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Geography & Life Sciences: Chapter 54516

Chapter 54516 provides bibliographic information on scholary research in geography and in the life sciences.



Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. American Journal of Human Genetics 90(3): 540-549

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Human Mutation 29(9): 1147-1153

Mutations in CYP24A1 and idiopathic infantile hypercalcemia. New England Journal of Medicine 365(5): 410-421

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. Journal of Neurology 261(2): 373-381

Mutations in Caenorhabditis elegans eIF2beta permit translation initiation from non-AUG start codons. Genetics 185(1): 141-152

Mutations in Caenorhabditis elegans him-19 show meiotic defects that worsen with age. Molecular Biology of the Cell 21(6): 885-896

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Human Molecular Genetics 19(7): 1324-1334

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. Journal of Cell Science 127(Pt 8): 1751-1764

Mutations in DCC cause congenital mirror movements. Science 328(5978): 592-592

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. American Journal of Human Genetics 93(3): 555-560

Mutations in DHDPSL are responsible for primary hyperoxaluria type III. American Journal of Human Genetics 87(3): 392-399

Mutations in DNA binding and transactivation domains affect the dynamics of parvovirus NS1 protein. Journal of Virology 87(21): 11762-11774

Mutations in DNA methyltransferase (DNMT3A) observed in acute myeloid leukemia patients disrupt processive methylation. Journal of Biological Chemistry 287(37): 30941-30951

Mutations in DNA-binding loop of NFAT5 transcription factor produce unique outcomes on protein-DNA binding and dynamics. Journal of Physical Chemistry. B 117(42): 13226-13234

Mutations in DNA-polymerase-Beta occur in breast, prostate and colorectal tumors. International Journal of Oncology 6(2): 459-463

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. American Journal of Human Genetics 94(1): 95-104

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Journal of Medical Genetics 46(4): 281-286

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics 94(6): 891-897

Mutations in DSTYK and dominant urinary tract malformations. New England Journal of Medicine 369(7): 621-629

Mutations in Dalpha1 or Dbeta2 nicotinic acetylcholine receptor subunits can confer resistance to neonicotinoids in Drosophila melanogaster. Insect Biochemistry and Molecular Biology 38(5): 520-528

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. Bmc Medical Genetics 15(): 31-31

Mutations in Drosophila after chemical treatment of gonads in vitro. Nature 157: 162-162

Mutations in Drosophila induced by a carcinogen. Nature 159(4044): 604-604

Mutations in Drosophila myosin rod cause defects in myofibril assembly. Journal of Molecular Biology 419(1-2): 22-40

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. British Journal of Dermatology 162(5): 1044-1048

Mutations in EGFR signal pathway in correlation with response to treatment of head and neck cancers. Gulf Journal of Oncology: 7-10

Mutations in EGFR, BRAF and RAS are rare in triple-negative and basal-like breast cancers from Caucasian women. Breast Cancer Research and Treatment 143(2): 385-392

Mutations in EIF4G1 are not a common cause of Parkinson's disease. European Journal of Neurology 20(4): E59-E59

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood 112(5): 2081-2088

Mutations in EMP2 cause childhood-onset nephrotic syndrome. American Journal of Human Genetics 94(6): 884-890

Mutations in ERBB3 drive tumorigenesis. Cancer Discovery 3(7): Of26-Of26

Mutations in EXPH5 result in autosomal recessive inherited skin fragility. British Journal of Dermatology 170(1): 196-199

Mutations in EZH2 cause Weaver syndrome. American Journal of Human Genetics 90(1): 110-118

Mutations in Escherichia coli aceE and ribB genes allow survival of strains defective in the first step of the isoprenoid biosynthesis pathway. Plos One 7(8): E43775-E43775

Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas. Human Mutation 35(9): 1136-1141

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. American Journal of Human Genetics 93(6): 1100-1107

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clinical Genetics 75(3): 271-276

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. American Journal of Human Genetics 93(3): 471-481

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics 93(3): 482-495

Mutations in FEZF1 cause Kallmann syndrome. American Journal of Human Genetics 95(3): 326-331

Mutations in FGFR3 and PIK3CA, singly or combined with RAS and AKT1, are associated with AKT but not with MAPK pathway activation in urothelial bladder cancer. Human Pathology 43(10): 1573-1582

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. Bmc Medical Genetics 12(): 152-152

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. American Journal of Medical Genetics. Part A 155a(6): 1448-1452

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. Journal of Bone and Mineral Research 26(3): 666-672

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Human Molecular Genetics 22(1): 1-17

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American Journal of Human Genetics 90(2): 201-216

Mutations in FLS2 Ser-938 dissect signaling activation in FLS2-mediated Arabidopsis immunity. Plos Pathogens 9(4): E1003313-E1003313

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. American Journal of Human Genetics 87(5): 643-654

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). American Journal of Human Genetics 86(3): 471-478

Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency. Journal of Vascular Research 48(5): 397-407

Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 73(15): 1176-1179

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323(5918): 1208-1211

Mutations in FYCO1 cause autosomal-recessive congenital cataracts. American Journal of Human Genetics 88(6): 827-838

Mutations in Fanconi anemia genes and the risk of esophageal cancer. Human Genetics 129(5): 573-582

Mutations in Fbx4 inhibit dimerization of the SCF(Fbx4) ligase and contribute to cyclin D1 overexpression in human cancer. Cancer Cell 14(1): 68-78

Mutations in Fis1 disrupt orderly disposal of defective mitochondria. Molecular Biology of the Cell 25(1): 145-159

Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function. Molecular and Cellular Endocrinology 382(1): 411-423

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction. Diabetologia 52(5): 982-985

Mutations in GABAA receptor subunits associated with genetic epilepsies. Journal of Physiology 588(Pt 11): 1861-1869

Mutations in GATA2 are rare in juvenile myelomonocytic leukemia. Blood 123(9): 1426-1427

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. American Journal of Medical Genetics. Part A 146a(2): 251-253

Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies. Neurological Research 35(8): 873-878

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 73(17): 1424-5, Author Reply 1425-6

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clinical Endocrinology 67(4): 538-546

Mutations in GDF5 presenting as semidominant brachydactyly A1. Human Mutation 31(10): 1155-1162

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. Plos Genetics 5(11): E1000747-E1000747

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation 29(8): 1017-1027

Mutations in GDI1 and X-linked non-specific mental retardation. Annali di Igiene 23(1): 71-79

Mutations in GERANYLGERANYL DIPHOSPHATE SYNTHASE 1 affect chloroplast development in Arabidopsis thaliana (Brassicaceae). American Journal of Botany 100(10): 2074-2084

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. Human Molecular Genetics 22(14): 2905-2913

Mutations in GJB6 causing phenotype resembling pachyonychia congenita. British Journal of Dermatology 172(5): 1447-1449

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. American Journal of Human Genetics 93(4): 727-734

Mutations in GNA11 in uveal melanoma. New England Journal of Medicine 363(23): 2191-2199

Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurology 71(4): 490-494

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. American Journal of Human Genetics 95(3): 308-314

Mutations in GTP binding protein Obg of Mycoplasma synoviae vaccine strain MS-H: implications in temperature-sensitivity phenotype. Plos One 8(9): E73954-E73954

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. American Journal of Human Genetics 86(2): 148-160

Mutations in GyrA and ParC in fluoroquinolone-resistant Mannheimia haemolytica isolates from cattle in Japan. Journal of Veterinary Medical Science 71(4): 493-494

Mutations in H5N1 influenza virus hemagglutinin that confer binding to human tracheal airway epithelium. Plos One 4(11): E7836-E7836

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. American Journal of Medical Genetics. Part A 164a(5): 1180-1187

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Annals of Hematology 88(10): 951-955

Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria. Journal of Medical Genetics 51(8): 526-529

Mutations in HBV DNA polymerase associated with nucleos(t)ide resistance are rare in treatment-naive patients. Clinical Gastroenterology and Hepatology 12(8): 1363-1370

Mutations in HCV non-structural genes do not contribute to resistance to nitazoxanide in replicon-containing cells. Antiviral Research 91(3): 233-240

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis. Revista Espanola de Enfermedades Digestivas 103(7): 379-382

Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. Journal of Clinical Endocrinology and Metabolism 94(11): 4391-4397

Mutations in HFM1 in recessive primary ovarian insufficiency. New England Journal of Medicine 370(10): 972-974

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. Neurogenetics 16(1): 43-54

Mutations in HISTONE ACETYLTRANSFERASE1 affect sugar response and gene expression in Arabidopsis. Frontiers in Plant Science 4: 245-245

Mutations in HIV-1 envelope that enhance entry with the macaque CD4 receptor alter antibody recognition by disrupting quaternary interactions within the trimer. Journal of Virology 89(2): 894-907

Mutations in HIV-1 reverse transcriptase affect the errors made in a single cycle of viral replication. Journal of Virology 88(13): 7589-7601

Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes 62(4): 1329-1337

Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients. Reproductive Biomedicine Online 28(6): 739-742

Mutations in HPSE2 cause urofacial syndrome. American Journal of Human Genetics 86(6): 963-969

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects. Plos Genetics 8(10): E1002927-E1002927

Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes. Diabetic Medicine 26(6): 660-661

Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord-stromal tumours. Histopathology 66(6): 897-898

Mutations in IDH1, IDH2, and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas. Oncotarget 5(6): 1515-1525

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Human Molecular Genetics 24(1): 230-242

Mutations in IMPG1 cause vitelliform macular dystrophies. American Journal of Human Genetics 93(3): 571-578

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics 87(2): 199-208

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. Journal of the American Society of Nephrology 22(2): 239-245

Mutations in IRGM are associated with more frequent need for surgery in patients with ileocolonic Crohn's disease. Diseases of the Colon and Rectum 55(2): 115-121

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. Journal of Medical Genetics 45(12): 787-793

Mutations in K-ras and epidermal growth factor receptor expression in Korean patients with stages III and IV colorectal cancer. International Journal of Surgical Pathology 19(2): 145-151

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics 90(2): 282-289

Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes. Diabetologia 56(12): 2609-2618

Mutations in KCNJ5 determines presentation and likelihood of cure in primary hyperaldosteronism. Anz Journal of Surgery 85(4): 279-283

Mutations in KCNJ5 gene cause hyperaldosteronism. Circulation Research 108(12): 1417-1418

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. American Journal of Human Genetics 90(2): 356-362

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus. Ophthalmic Genetics 30(4): 206-207

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation 121(7): 2662-2667

Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure. Pigment Cell & Melanoma Research 23(2): 210-215

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. American Journal of Human Genetics 94(1): 87-94

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. British Journal of Dermatology 164(3): 637-644

Mutations in Keap1 are a potential prognostic factor in resected non-small cell lung cancer. Journal of Surgical Oncology 101(6): 500-506

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 123(10): 1586-1595

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics 95(2): 227-234

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. Bioscience Reports 31(2): 125-135

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. Journal of Medical Genetics 46(3): 203-208

Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. Epilepsia 51(4): 690-693

Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations. Plos One 8(8): E71850-E71850

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. American Journal of Human Genetics 90(3): 533-539

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. American Journal of Human Genetics 85(3): 328-337

Mutations in LRRC50 predispose zebrafish and humans to seminomas. Plos Genetics 9(4): E1003384-E1003384

Mutations in LRRK2 as a cause of Parkinson's disease. Neuro-Signals 16(1): 99-105

Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death. Human Mutation 32(12): 1390-1397

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. American Journal of Human Genetics 85(5): 593-605

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics 22(22): 4460-4473

Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. Journal of Biological Chemistry 285(10): 7697-7711

Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. Diabetic Medicine 26(7): 746-748

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. American Journal of Human Genetics 87(6): 898-904

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. Human Molecular Genetics 23(4): 1073-1083

Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome. Journal of Alzheimer's Disease 33(4): 969-982

Mutations in MAPT give rise to aneuploidy in animal models of tauopathy. Neurogenetics 15(1): 31-40

Mutations in MC1R gene determine black coat color phenotype in Chinese sheep. Thescientificworldjournal 2013: 675382-675382

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 159b(2): 210-216

Mutations in MED12 cause X-linked Ohdo syndrome. American Journal of Human Genetics 92(3): 401-406

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation 31(6): 722-733

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology 122(1): 170-179

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. Plos Genetics 8(4): E1002653-E1002653

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. American Journal of Human Genetics 85(2): 168-178

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism 14(3): 428-434

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Human Molecular Genetics 19(12): 2370-2379

Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. Genetic Testing and Molecular Biomarkers 13(5): 705-707

Mutations in MicroRNA Genes and Their Binding Sites are Infrequently Associated with Human Colorectal Cancer in the Kashmiri Population. Microrna 2(3): 219-224

Mutations in Mll2, an H3K4 methyltransferase, result in insulin resistance and impaired glucose tolerance in mice. Plos One 8(6): E61870-E61870

Mutations in N-cadherin and a Stardust homolog, Nagie oko, affect cell-cycle exit in zebrafish retina. Mechanisms of Development 127(5-6): 247-264

Mutations in N-terminal flanking region of blue light-sensing light-oxygen and voltage 2 (LOV2) domain disrupt its repressive activity on kinase domain in the Chlamydomonas phototropin. Journal of Biological Chemistry 287(13): 9901-9909

Mutations in NA that induced low pH-stability and enhanced the replication of pandemic (H1N1) 2009 influenza A virus at an early stage of the pandemic. Plos One 8(5): E64439-E64439

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. American Journal of Human Genetics 93(4): 721-726

Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. Journal of Child Neurology 24(7): 828-832

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. American Journal of Human Genetics 84(6): 718-727

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Human Molecular Genetics 22(11): 2177-2185

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. American Journal of Human Genetics 87(5): 687-693

Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery. American Journal of Medical Genetics. Part A 164a(7): Viii-Viix

Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. Human Mutation 34(2): 301-308

Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability. Clinical Genetics 79(3): 219-220

Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy. Medecine Sciences 29(1): 26-27

Mutations in NOTCH1 cause Adams-Oliver syndrome. American Journal of Human Genetics 95(3): 275-284

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Human Mutation 32(10): 1114-1117

Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporosis International 24(8): 2275-2281

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation. Human Molecular Genetics 19(1): 79-89

Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome. Genetics and Molecular Research 11(2): 1460-1464

Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. Genetics and Molecular Research 12(2): 2102-2107

Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group. Zhonghua Er Ke Za Zhi 46(8): 591-596

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. Genetics and Molecular Research 11(4): 4575-4584

Mutations in NR5A1 associated with ovarian insufficiency. New England Journal of Medicine 360(12): 1200-1210

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 159b(3): 354-358

Mutations in NSCLC and their link with lung cancer-associated thrombosis: a case-control study. Thrombosis Research 133(1): 48-51

Mutations in NSUN2 cause autosomal-recessive intellectual disability. American Journal of Human Genetics 90(5): 847-855

Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. Human Mutation 35(12): 1459-1468

Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease. Medical Hypotheses 83(5): 559-562

Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clinical and Experimental Nephrology 12(5): 358-362

Mutations in Oenothera hookeri after prolonged influence of radiowaves during one vegetationperiod. Tag. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik 43(1): 6-12

Mutations in Orai1 transmembrane segment 1 cause STIM1-independent activation of Orai1 channels at glycine 98 and channel closure at arginine 91. Proceedings of the National Academy of Sciences of the United States of America 108(43): 17838-17843

Mutations in Ovis aries TMEM154 are associated with lower small ruminant lentivirus proviral concentration in one sheep flock. Animal Genetics 45(4): 565-571

Mutations in PA, NP, and HA of a pandemic (H1N1) 2009 influenza virus contribute to its adaptation to mice. Virus Research 158(1-2): 124-129

Mutations in PAX2 associate with adult-onset FSGS. Journal of the American Society of Nephrology 25(9): 1942-1953

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. Journal of the American Society of Nephrology 25(3): 574-586

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. Journal of Medical Genetics 47(10): 665-669

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics 94(1): 113-119

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics 94(1): 105-112

Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis. Clinical Genetics 84(4): 340-341

Mutations in PDYN are not responsible for multiple system atrophy. Journal of Neurology 260(3): 927-928

Mutations in PEX10 are a cause of autosomal recessive ataxia. Annals of Neurology 68(2): 259-263

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. American Journal of Human Genetics 94(2): 278-287

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics 94(5): 734-744

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91(1): 146-151

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. Journal of Clinical Immunology 34(3): 272-276

Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. Plos One 6(3): E16746-E16746

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Human Mutation 33(10): 1444-1449

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. American Journal of Human Genetics 94(1): 135-143

Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment. Cancer Medicine 3(6): 1527-1538

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. American Journal of Human Genetics 89(5): 644-651

Mutations in POT1 predispose to familial cutaneous malignant melanoma. Clinical Genetics 86(3): 217-218

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Human Molecular Genetics 20(8): 1595-1609

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease. Current Genomics 14(8): 502-517

Mutations in PRSS1 put into perspective. International Journal of Medical Sciences 11(4): 389-390

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. American Journal of Human Genetics 86(4): 604-610

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics 87(2): 265-273

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. European Journal of Medical Genetics 56(6): 336-339

Mutations in Pdd1 reveal distinct requirements for its chromodomain and chromoshadow domain in directing histone methylation and heterochromatin elimination. Eukaryotic Cell 13(2): 190-201

Mutations in Plasmodium falciparum K13 propeller gene from Bangladesh (2009-2013). Malaria Journal 13(): 431-431

Mutations in Pol gene of hepatitis B virus in patients with chronic hepatitis B before and after therapy with nucleoside/nucleotide analogues. Acta Virologica 58(2): 185-189

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. American Journal of Human Genetics 94(4): 547-558

Mutations in RARS cause hypomyelination. Annals of Neurology 76(1): 134-139

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Investigative Ophthalmology & Visual Science 53(7): 3463-3472

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. American Journal of Human Genetics 90(1): 76-85

Mutations in RNA splicing machinery in human cancers. New England Journal of Medicine 365(26): 2534-2535

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. American Journal of Human Genetics 90(4): 701-707

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative Ophthalmology & Visual Science 53(13): 8232-8237

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Current Eye Research 35(1): 73-79

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine 189(6): 707-717

Mutations in Ralstonia solanacearum loci involved in lipopolysaccharide biogenesis, phospholipid trafficking and peptidoglycan recycling render bacteriophage infection. Archives of Microbiology 196(9): 667-674

Mutations in SACPD-C result in a range of elevated stearic acid concentration in soybean seed. Plos One 9(5): E97891-E97891

Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 75(13): 1181-1188

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. American Journal of Human Genetics 87(4): 553-559

Mutations in SCG10 are not involved in Hirschsprung disease. Plos One 5(12): E15144-E15144

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. Journal of the American College of Cardiology 64(1): 66-79

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm. Pediatrics 134(5): E1447-E1450

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Molecular Syndromology 1(6): 273-281

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics 51(3): 170-175

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. American Journal of Human Genetics 93(5): 945-956

Mutations in SETD2 cause a novel overgrowth condition. Journal of Medical Genetics 51(8): 512-517

Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw. British Journal of Oral & Maxillofacial Surgery 46(3): 229-230

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. American Journal of Human Genetics 95(1): 113-120

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. Plos Genetics 6(2): E1000833-E1000833

Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development. Journal of Biological Chemistry 288(43): 31080-31092

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. American Journal of Human Genetics 90(3): 467-477

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. American Journal of Human Genetics 90(1): 61-68

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal of the American Society of Nephrology 25(10): 2366-2375

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. Journal of Medical Genetics 50(11): 733-739

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. British Journal of Dermatology 171(6): 1521-1524

Mutations in SNF1 complex genes affect yeast cell wall strength. European Journal of Cell Biology 92(12): 383-395

Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Human Mutation 31(7): 788-793

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Human Mutation 31(12): 1352-1359

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics 93(4): 711-720

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Journal of Medical Genetics 52(2): 104-110

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. American Journal of Human Genetics 90(2): 308-313

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circulation Research 115(6): 552-555

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. Journal of Experimental Medicine 205(7): 1543-1550

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Journal of Allergy and Clinical Immunology 125(2): 424-432.E8

Mutations in STK11 gene in Czech Peutz-Jeghers patients. Bmc Medical Genetics 10(): 69-69

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Human Molecular Genetics 22(22): 4638-4645

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. New England Journal of Medicine 360(6): 599-605

Mutations in Sensor 1 and Walker B in the bovine papillomavirus E1 initiator protein mimic the nucleotide-bound state. Journal of Virology 84(4): 1912-1919

Mutations in Soviet public health science: post-Lysenko medical genetics, 1969-1991. Studies in History and Philosophy of Biological and Biomedical Sciences 47 Pt A: 163-172

Mutations in Streptococcus pneumoniae penicillin-binding protein 2x: importance of the C-terminal penicillin-binding protein and serine/threonine kinase-associated domains for beta-lactam binding. Microbial Drug Resistance 18(3): 314-321

Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. Journal of Endocrinological Investigation 32(3): 238-241

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics 94(1): 144-152

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Human Molecular Genetics 18(R2): R156-R162

Mutations in TET2 in myeloid cancers. Medecine Sciences 25(10): 785-788

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing. Human Molecular Genetics 22(14): 2881-2893

Mutations in TGFbeta-RII and BAX mediate tumor progression in the later stages of colorectal cancer with microsatellite instability. Bmc Cancer 10(): 303-303

Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. International Journal of Dermatology 53(4): E312-E313

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet. Neurology 8(5): 447-452

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet. Neurology 8(5): 441-446

Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome. Blood 123(24): 3790-3796

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Annals of Otology, Rhinology, and Laryngology 119(12): 830-835

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. International Journal of Pediatric Otorhinolaryngology 73(5): 699-705

Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma. Haematologica 95(11): 1973-1976

Mutations in TP53 tumor suppressor gene in wood dust-related sinonasal cancer. International Journal of Cancer 127(3): 578-588

Mutations in TP53, CTNNB1 and PIK3CA genes in hepatocellular carcinoma associated with hepatitis B and hepatitis C virus infections. Genomics 102(2): 74-83

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. American Journal of Human Genetics 86(3): 479-484

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124(18): 2867-2871

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. American Journal of Human Genetics 85(5): 730-736

Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. British Journal of Dermatology 163(2): 416-419

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. American Journal of Human Genetics 86(2): 248-253

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138(7): 2388-98, 2398.E1-2

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Molecular Vision 18(): 1165-1174

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?. Journal of Molecular and Cellular Cardiology 48(5): 882-892

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology 83(22): 2054-2061

Mutations in Tyr808 reveal a potential auto-inhibitory mechanism of guanylate cyclase-B regulation. Bioscience Reports 33(3): -

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332(6026): 238-240

Mutations in UBA3 confer resistance to the NEDD8-activating enzyme inhibitor MLN4924 in human leukemic cells. Plos One 9(4): E93530-E93530

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis. Neurobiology of Aging 35(8): 1957.E7-8

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiology of Aging 33(4): 839.E1-3

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. Plos One 3(12): E3850-E3850

Mutations in UDP-Glucose:sterol glucosyltransferase in Arabidopsis cause transparent testa phenotype and suberization defect in seeds. Plant Physiology 151(1): 78-87

Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality. Zhongguo Dang Dai Er Ke Za Zhi 16(5): 483-488

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. American Journal of Human Genetics 94(3): 470-478

Mutations in VAPB are not associated with sporadic ALS. Neurology 68(22): 1951-1953

Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction. Biochemical and Biophysical Research Communications 396(2): 483-488

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). Journal of Child Neurology 24(10): 1310-1315

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency. Movement Disorders 28(13): 1904-1905

Mutations in VPS26A are not a frequent cause of Parkinson's disease. Neurobiology of Aging 35(6): 1512.E1-2

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurology 70(12): 1491-1498

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatric Nephrology 29(8): 1451-1456

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. Bmc Neurology 11(): 119-119

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American Journal of Medical Genetics. Part A 161a(4): 671-678

Mutations in WNT10A are present in more than half of isolated hypodontia cases. Journal of Medical Genetics 49(5): 327-331

Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women. Reproductive Biomedicine Online 24(6): 630-633

Mutations in Wnt2 alter presynaptic motor neuron morphology and presynaptic protein localization at the Drosophila neuromuscular junction. Plos One 5(9): E12778-E12778

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Journal of Medical Genetics 47(8): 513-524

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiology in the Young 22(2): 194-201

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics 84(6): 792-800

Mutations in a P-type ATPase gene cause axonal degeneration. Plos Genetics 8(8): E1002853-E1002853

Mutations in a beta-tubulin confer resistance of Gibberella zeae to benzimidazole fungicides. Phytopathology 99(12): 1403-1411

Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. Proceedings of the National Academy of Sciences of the United States of America 106(35): 14920-5

Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma. Cell Cycle 9(4): 670-675

Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. Plos Genetics 7(10): E1002335-E1002335

Mutations in a helix-1 motif of the ATP synthase c-subunit of Bacillus pseudofirmus OF4 cause functional deficits and changes in the c-ring stability and mobility on sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Biochemistry 50(24): 5497-5506

Mutations in a molecule: the virtues of antagonism. Mayo Clinic Proceedings 83(10): 1083-1086

Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. Clinical Genetics 79(3): 222-224

Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Molecular Vision 17(): 1850-1861

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. New England Journal of Medicine 360(17): 1792-1794

Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219. Anticancer Research 33(5): 1899-1912

Mutations in agr do not persist in natural populations of methicillin-resistant Staphylococcus aureus. Journal of Infectious Diseases 202(10): 1593-1599

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. Journal of the American College of Cardiology 55(11): 1127-1135

Mutations in alpha-tubulin confer dinitroaniline resistance at a cost to microtubule function. Molecular Biology of the Cell 18(12): 4711-4720

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Human Mutation 31(6): E1445-E1460

Mutations in ampG and lytic transglycosylase genes affect the net release of peptidoglycan monomers from Vibrio fischeri. Journal of Bacteriology 191(7): 2012-2022

Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy. Medecine Sciences 23(12): 1080-1082

Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase. Molecular and Cellular Neurosciences 41(2): 166-174

Mutations in an AP2 transcription factor-like gene affect internode length and leaf shape in maize. Plos One 7(5): E37040-E37040

Mutations in an Arabidopsis mitochondrial transcription termination factor-related protein enhance thermotolerance in the absence of the major molecular chaperone HSP101. Plant Cell 24(8): 3349-3365

Mutations in an Atypical TIR-NB-LRR-LIM Resistance Protein Confer Autoimmunity. Frontiers in Plant Science 2: 71-71

Mutations in an alternatively spliced exon of h-ras are not associated with loss of heterozygosity on chromosome 11p15.5 in ovarian tumorigenesis. International Journal of Oncology 1(2): 215-219

Mutations in an amino acid transporter gene are responsible for sex-linked translucent larval skin of the silkworm, Bombyx mori. Insect Biochemistry and Molecular Biology 41(9): 680-687

Mutations in ap1b1 cause mistargeting of the Na(+)/K(+)-ATPase pump in sensory hair cells. Plos One 8(4): E60866-E60866

Mutations in arrestin-3 differentially affect binding to neuropeptide Y receptor subtypes. Cellular Signalling 26(7): 1523-1531

Mutations in bone marrow-derived stromal stem cells unmask latent malignancy. Stem Cells and Development 19(8): 1153-1166

Mutations in bone morphogenetic protein 15 and growth differentiation factor 9 genes are associated with increased litter size in fat-tailed sheep breeds. Veterinary Research Communications 35(3): 157-167

Mutations in bone morphogenetic protein receptor genes in pulmonary arterial hypertension patients. Possible involvement of BMPRIB. Circulation Journal 76(6): 1329-1330

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. American Journal of Human Genetics 92(3): 415-421

Mutations in calpastatin and μ-calpain are associated with meat tenderness, flavor and juiciness in Hanwoo (Korean cattle): molecular modeling of the effects of substitutions in the calpastatin/μ-calpain complex. Meat Science 96(4): 1501-1508

Mutations in cardiovascular connexin genes. Biology of the Cell 106(9): 269-293

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. American Journal of Human Genetics 87(1): 40-51

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of Medical Genetics 47(7): 453-463

Mutations in chicory FEH genes are statistically associated with enhanced resistance to post-harvest inulin depolymerization. Tag. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik 127(1): 125-135

Mutations in circulating mitochondrial DNA: Cassandra of oral cancer?. Oncotarget 3(7): 664-665

Mutations in classical swine fever virus NS4B affect virulence in swine. Journal of Virology 84(3): 1536-1549

Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. Haemophilia 17(5): E843-E845

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112(13): 4948-4952

Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. European Journal of Immunology 40(1): 172-185

Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort. Plos Medicine 8(3): E1001013-E1001013

Mutations in components of antiviral or microbial defense as a basis for breast cancer. Functional & Integrative Genomics 13(4): 411-424

Mutations in components of the Wnt signaling pathway in gastric cancer. World Journal of Gastroenterology 14(10): 1570-1574

Mutations in connexin genes and disease. European Journal of Clinical Investigation 41(1): 103-116

Mutations in conserved helix 69 of 23S rRNA of Thermus thermophilus that affect capreomycin resistance but not posttranscriptional modifications. Journal of Bacteriology 190(23): 7754-7761

Mutations in conserved residues of the C. elegans microRNA Argonaute ALG-1 identify separable functions in ALG-1 miRISC loading and target repression. Plos Genetics 10(4): E1004286-E1004286

Mutations in critical domains confer the human mTOR gene strong tumorigenicity. Journal of Biological Chemistry 288(9): 6511-6521

Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1beta secretion and disease activity. Arthritis and Rheumatism 56(9): 2817-2822

Mutations in cyclodextrin glycosyltransferase from Bacillus circulans enhance β-cyclization activity and β-cyclodextrin production. Journal of Agricultural and Food Chemistry 62(46): 11209-11214

Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. Faseb Journal 22(12): 4071-4076

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases. Biochemical Society Transactions 41(6): 1605-1612

Mutations in cytoplasmic dynein lead to a Huntington's disease-like defect in energy metabolism of brown and white adipose tissues. Biochimica et Biophysica Acta 1812(1): 59-69

Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation 125(16): 1988-1996

Mutations in deoxyribonucleotide biosynthesis pathway cause spreading of silencing across heterochromatic barriers at the mating-type region of the fission yeast. Yeast 25(2): 117-128

Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics. Journal of Molecular Biology 397(5): 1188-1198

Mutations in desmosomal protein genes and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Heart Rhythm 7(1): 30-32

Mutations in different regions of the genome of hepatitis C virus genotype 1b and association with response to interferon therapy. International Journal of Molecular Medicine 30(6): 1438-1442

Mutations in disguise. Journal of Thrombosis and Haemostasis 9(10): 1973-1976

Mutations in domain I interhelical loops affect the rate of pore formation by the Bacillus thuringiensis Cry1Aa toxin in insect midgut brush border membrane vesicles. Applied and Environmental Microbiology 75(12): 3842-3850

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics 93(6): 1118-1125

Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer. Bmc Medical Genetics 11(): 34-34

Mutations in epidermal growth factor receptor gene in esophageal squamous cell carcinoma patients in kashmir- a high incidence area of India. International Journal of Health Sciences 2(2): 17-25

Mutations in epigenetic modifiers in myeloid malignancies and the prospect of novel epigenetic-targeted therapy. Advances in Hematology 2012: 469592-469592

Mutations in exon 2 of TBX3 are rare in common human tumors. Apmis 122(2): 161-163

Mutations in exon 3 of the CTNNB1 gene (beta-catenin gene) in cutaneous adnexal tumors. American Journal of Dermatopathology 31(3): 248-255

Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients. Journal of Biomolecular Structure & Dynamics 33(4): 820-833

Mutations in extensively drug-resistant Mycobacterium tuberculosis that do not code for known drug-resistance mechanisms. Journal of Infectious Diseases 201(6): 881-888

Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation. Plos Genetics 7(8): E1002246-E1002246

Mutations in familial thrombocythemias. Deutsches Arzteblatt International 105(4): 71; Author Reply 72-71; Author Reply 72

Mutations in fd phage major coat protein modulate affinity of the displayed peptide. Protein Engineering, Design & Selection 22(10): 631-639

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Science Translational Medicine 2(23): 23ra20-23ra20

Mutations in flk, flgG, flhA, and flhE that affect the flagellar type III secretion specificity switch in Salmonella enterica. Journal of Bacteriology 191(12): 3938-3949

Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster. Plos Genetics 10(5): E1004349-E1004349

Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms. Pathology Oncology Research 21(2): 439-447

Mutations in gastrointestinal stromal tumors diagnosed by endoscopic ultrasound-guided fine needle aspiration. Minerva Medica 98(4): 385-388

Mutations in gastrointestinal stromal tumors--a population-based study from Northern Norway. Apmis 115(4): 289-298

Mutations in gene PVRL4 encoding for cell adhesion molecule Nectin-4 in ectodermal dysplasia-syndactyly syndrome. Annales de Dermatologie et de Venereologie 138(2): 159-160

Mutations in genes controlling the biosynthesis and accumulation of inositol phosphates in seeds. Biochemical Society Transactions 38(2): 689-694

Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus. Arthritis Research & Therapy 13(6): R206-R206

Mutations in genes encoding sorting nexins alter production of intracellular and extracellular proteases in Aspergillus nidulans. Genetics 181(4): 1239-1247

Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of sel-12 mutants with amber stop mutations in Caenorhabditis elegans. Bmc Genetics 10(): 14-14

Mutations in genes involved in oestrous cycle associated expression of oestrus. Animal Reproduction Science 142(3-4): 106-112

Mutations in genes involved in splicing in human malignancies. Medecine Sciences 28(5): 449-453

Mutations in genes patA and patL of Anabaena sp. strain PCC 7120 result in similar phenotypes, and the proteins encoded by those genes may interact. Journal of Bacteriology 193(21): 6070-6074

Mutations in glioblastoma oncosuppressive pathways pave the way for oncomodulatory activity of cytomegalovirus. Oncoimmunology 2(9): E25620-E25620

Mutations in gp120 contribute to the resistance of human immunodeficiency virus type 1 to membrane-anchored C-peptide maC46. Journal of Virology 83(10): 4844-4853

Mutations in gp41 are correlated with coreceptor tropism but do not improve prediction methods substantially. Antiviral Therapy 16(3): 319-328

Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1. Immunity 28(3): 370-380

Mutations in gyrA and gyrB genes among strains of Gram-negative bacilli isolated from Chilean hospitals and their relation with resistance to fluoroquinolones. Revista Medica de Chile 135(9): 1103-1110

Mutations in haemagglutinin that affect receptor binding and pH stability increase replication of a PR8 influenza virus with H5 HA in the upper respiratory tract of ferrets and may contribute to transmissibility. Journal of General Virology 94(Pt 6): 1220-1229

Mutations in hemG mediate resistance to salicylidene acylhydrazides, demonstrating a novel link between protoporphyrinogen oxidase (HemG) and Chlamydia trachomatis infectivity. Journal of Bacteriology 195(18): 4221-4230

Mutations in hepatitis C virus E2 located outside the CD81 binding sites lead to escape from broadly neutralizing antibodies but compromise virus infectivity. Journal of Virology 83(12): 6149-6160

Mutations in hepatitis C virus NS3 protease domain associated with resistance to specific protease inhibitors in antiviral therapy naïve patients. Archives of Virology 155(5): 807-811

Mutations in hepatitis C virus genotype 1b and the sensitivity of interferon-ribavirin therapy after liver transplantation. Journal of Hepatology 52(5): 672-680

Mutations in hepatitis C virus p7 reduce both the egress and infectivity of assembled particles via impaired proton channel function. Journal of General Virology 94(Pt 10): 2236-2248

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function. Journal of Inherited Metabolic Disease 38(2): 243-256

Mutations in herpes simplex virus gD protein affect receptor binding by different molecular mechanisms. Journal of Molecular Modeling 20(4): 2192-2192

Mutations in histone H3.3 and chromatin remodeling genes drive pediatric and young adult glioblastomas. Medecine Sciences 28(10): 809-812

Mutations in hpyAVIBM, C⁵ cytosine DNA methyltransferase from Helicobacter pylori result in relaxed specificity. Febs Journal 279(6): 1080-1092

Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. Human Molecular Genetics 22(6): 1074-1085

Mutations in human GLUD2 glutamate dehydrogenase affecting basal activity and regulation. Journal of Neurochemistry 109 Suppl 1: 167-173

Mutations in human immunodeficiency virus type 1 nucleocapsid protein zinc fingers cause premature reverse transcription. Journal of Virology 82(19): 9318-9328

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet Journal of Rare Diseases 8(): 192-192

Mutations in human monoamine-related neurotransmitter pathway genes. Human Mutation 29(7): 891-902

Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin. Plos One 7(2): E31421-E31421

Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis. Japanese Journal of Clinical Hematology 50(10): 1589-1594

Mutations in influenza a virus-encoded proteins and pathogenic mechanisms. Bing du Xue Bao 29(4): 442-451

Mutations in influenza virus replication and transcription: detection of amino acid substitutions in hemagglutinin of an avian influenza virus (H1N1). Faseb Journal 23(10): 3377-3382

Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation. Arquivos Brasileiros de Endocrinologia E Metabologia 55(8): 541-549

Mutations in interaction surfaces differentially impact E. coli Hfq association with small RNAs and their mRNA targets. Journal of Molecular Biology 425(19): 3678-3697

Mutations in intracellular loops 1 and 3 lead to misfolding of human P-glycoprotein (ABCB1) that can be rescued by cyclosporine A, which reduces its association with chaperone Hsp70. Journal of Biological Chemistry 288(45): 32622-32636

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India. Plos One 9(5): E97337-E97337

Mutations in intron 8 and intron 9 of Wilms' tumor genes in members of family with ureteropelvic junction obstruction. Urology 74(1): 116-118

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. American Journal of Human Genetics 89(4): 486-495

Mutations in leaf starch metabolism modulate the diurnal root growth profiles of Arabidopsis thaliana. Plant Signaling & Behavior 6(7): 995-998

Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma. Blood 123(10): 1487-1498

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. Journal of the American Academy of Dermatology 61(5): 813-818

Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. Acta Dermato-Venereologica 90(1): 93-94

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1. Proceedings of the National Academy of Sciences of the United States of America 108(19): 7980-7984

Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition. Pediatric and Developmental Pathology 15(5): 368-374

Mutations in loop six of the large subunit of ribulose-1,5-bisphosphate carboxylase affect substrate specificity. Planta 187(1): 109-112

Mutations in maltose-binding protein that alter affinity and solubility properties. Applied Microbiology and Biotechnology 88(1): 187-197

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology 75(5): 782-787

Mutations in many genes affect aggressive behavior in Drosophila melanogaster. Bmc Biology 7(): 29-29

Mutations in matrix and SP1 repair the packaging specificity of a Human Immunodeficiency Virus Type 1 mutant by reducing the association of Gag with spliced viral RNA. Retrovirology 7(): 73-73

Mutations in melanocortin-4 receptor and human obesity. Progress in Molecular Biology and Translational Science 88: 173-204

Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?. Molecular Biology Reports 38(5): 3361-3366

Mutations in microRNA binding sites of CEP genes involved in cancer. Cell Biochemistry and Biophysics 70(3): 1933-1942

Mutations in mitochondrial DNA associated with hypertension. Yi Chuan 33(9): 911-918

Mutations in mitochondrial DNA in ocular diseases--Leher's hereditary optic neuropathy and Kearns' syndrome. Klinika Oczna 110(7-9): 321-324

Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma. Malaysian Journal of Pathology 32(2): 103-110

Mutations in mitochondrial complex III uniquely affect complex I in Caenorhabditis elegans. Journal of Biological Chemistry 285(52): 40724-40731

Mutations in mmpL and in the cell wall stress stimulon contribute to resistance to oxadiazole antibiotics in methicillin-resistant Staphylococcus aureus. Antimicrobial Agents and ChemoTherapy 58(10): 5841-5847

Mutations in modified virus Ankara protein 183 render it a non-functional counterpart of B14, an inhibitor of nuclear factor kappaB activation. Journal of General Virology 91(Pt 9): 2216-2220

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline. Proceedings of the National Academy of Sciences of the United States of America 107(38): 16595-16600

Mutations in multiple XXT genes of Arabidopsis reveal the complexity of xyloglucan biosynthesis. Plant Physiology 159(4): 1367-1384

Mutations in multiple domains of Gag drive the emergence of in vitro resistance to the phosphonate-containing HIV-1 protease inhibitor GS-8374. Journal of Virology 87(1): 454-463

Mutations in multiple domains of c-Myb disrupt interaction with CBP/p300 and abrogate myeloid transforming ability. Molecular Cancer Research 7(9): 1477-1486

Mutations in myeloid neoplasms. Diagnostic Molecular Pathology 17(4): 191-199

Mutations in myosin light chain kinase cause familial aortic dissections. American Journal of Human Genetics 87(5): 701-707

Mutations in nicastrin protein differentially affect amyloid beta-peptide production and Notch protein processing. Journal of Biological Chemistry 286(36): 31153-8

Mutations in non-acid patch residues disrupt H2A.Z's association with chromatin through multiple mechanisms. Plos One 8(10): E76394-E76394

Mutations in non-structural 5A and rapid viral response to pegylated interferon-α-2b plus ribavirin therapy are associated with therapeutic efficacy in patients with genotype 1b chronic hepatitis C. International Journal of Molecular Medicine 30(5): 1048-1052

Mutations in nsP1 and PE2 are critical determinants of Ross River virus-induced musculoskeletal inflammatory disease in a mouse model. Virology 410(1): 216-227

Mutations in oncogenes: context matters. Gynecologic Oncology 134(1): 1-2

Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic. Plos Genetics 7(9): E1002286-E1002286

Mutations in p53, p53 protein overexpression and breast cancer survival. Journal of Cellular and Molecular Medicine 13(9b): 3847-3857

Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. Fly 7(4): 267-279

Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. Reviews in Endocrine & Metabolic Disorders 11(3): 179-183

Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology 24: 8-16

Mutations in planar cell polarity gene SCRIB are associated with spina bifida. Plos One 8(7): E69262-E69262

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. Clinical Nephrology 78(1): 47-53

Mutations in polymerase genes enhanced the virulence of 2009 pandemic H1N1 influenza virus in mice. Plos One 7(3): E33383-E33383

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 140(1): 88-98

Mutations in pre-core and basal-core promoter regions of hepatitis B virus in chronic HBV patients from Golestan, Iran. Iranian Journal of Basic Medical Sciences 17(5): 370-377

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. American Journal of Pathology 184(10): 2641-2652

Mutations in precore/basal core promoter regions and viral polymerase in patients with chronic hepatitis B. Enfermedades Infecciosas Y Microbiologia Clinica 30(2): 70-74

Mutations in prickle orthologs cause seizures in flies, mice, and humans. American Journal of Human Genetics 88(2): 138-149

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet. Neurology 7(10): 965-974

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. Journal of Clinical Endocrinology and Metabolism 93(9): 3551-3559

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis and Rheumatism 64(3): 895-907

Mutations in protein-binding hot-spots on the hub protein Smad3 differentially affect its protein interactions and Smad3-regulated gene expression. Plos One 6(9): E25021-E25021

Mutations in proteins of the Conserved Oligomeric Golgi Complex affect polarity, cell wall structure, and glycosylation in the filamentous fungus Aspergillus nidulans. Fungal Genetics and Biology 73: 69-82

Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome. American Journal of Kidney Diseases 52(1): 171-180

Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. Plos One 6(4): E19183-E19183

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. Plos One 9(3): E90640-E90640

Mutations in rDNA : 3. Modulatory action of α-amanitin on aberration induction in nucleolus organizer regions. Tag. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik 70(2): 178-184

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. Plos One 7(3): E33667-E33667

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. Journal of Clinical Endocrinology and Metabolism 94(6): 2085-2091

Mutations in renin-angiotensin system genes and kidney developmental anomalies. Journal de la Societe de Biologie 203(4): 311-318

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. Human Molecular Genetics 22(24): 4978-4987

Mutations in retrotransposon AtCOPIA4 compromises resistance to Hyaloperonospora parasitica in Arabidopsis thaliana. Genetics and Molecular Biology 33(1): 135-140

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle & Nerve 50(5): 775-779

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. Journal of the American College of Cardiology 54(10): 930-941

Mutations in ribosomal protein L3 are associated with oxazolidinone resistance in staphylococci of clinical origin. Antimicrobial Agents and ChemoTherapy 53(12): 5275-5278

Mutations in ribosomal proteins and ribosomal RNA confer macrolide resistance in human Ureaplasma spp. International Journal of Antimicrobial Agents 37(4): 377-379

Mutations in rpoB and fusA cause resistance to rifampicin and fusidic acid in methicillin-resistant Staphylococcus aureus strains from a tertiary hospital in Malaysia. Transactions of the Royal Society of Tropical Medicine and Hygiene 108(2): 112-118

Mutations in rpoB and katG genes in Mycobacterium isolates from the Southeast of Mexico. Memorias do Instituto Oswaldo Cruz 104(3): 468-472

Mutations in rpsL that confer streptomycin resistance show pleiotropic effects on virulence and the production of a carbapenem antibiotic in Erwinia carotovora. Microbiology 156(Pt 4): 1030-1039

Mutations in salt-bridging residues at the interface of the core and lid domains of epoxide hydrolase StEH1 affect regioselectivity, protein stability and hysteresis. Archives of Biochemistry and Biophysics 495(2): 165-173

Mutations in sarcomere protein genes as a cause of heart failure. Nihon Rinsho. Japanese Journal of Clinical Medicine 65 Suppl 4: 267-272

Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy. Revista Espanola de Cardiologia 62(1): 48-56

Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations. Clinical Genetics 74(1): 16-19

Mutations in single FT- and TFL1-paralogs of rapeseed (Brassica napus L.) and their impact on flowering time and yield components. Frontiers in Plant Science 5: 282-282

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. American Journal of Human Genetics 84(5): 617-627

Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovascular Research 89(4): 786-793

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circulation. Arrhythmia and Electrophysiology 2(3): 268-275

Mutations in specific structural regions of immunoglobulin light chains are associated with free light chain levels in patients with AL amyloidosis. Plos One 4(4): E5169-E5169

Mutations in subdomain B of the minichromosome maintenance (MCM) helicase affect DNA binding and modulate conformational transitions. Journal of Biological Chemistry 284(9): 5654-5661

Mutations in subunit interface and B-cell epitopes improve antileukemic activities of Escherichia coli asparaginase-II: evaluation of immunogenicity in mice. Journal of Biological Chemistry 289(6): 3555-3570

Mutations in succinate dehydrogenase and DNA methylation. Medecine Sciences 29(12): 1092-1094

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 146(4): 1028-1039

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis. Human Molecular Genetics 22(23): 4748-4755

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD). Bmc Medical Genetics 8(): 38-38

Mutations in the 3c and 7b genes of feline coronavirus in spontaneously affected FIP cats. Research in Veterinary Science 97(2): 333-340

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. American Journal of Human Genetics 88(1): 115-120

Mutations in the 50S ribosomal subunit of Brachyspira hyodysenteriae associated with altered minimum inhibitory concentrations of pleuromutilins. Veterinary Microbiology 172(1-2): 223-229

Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. Investigative Ophthalmology & Visual Science 55(12): 8031-8043

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clinical Endocrinology 71(3): 358-362

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes. Diabetes & Metabolism 35(3): 233-235

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. Genetics and Molecular Research 12(3): 2794-2799

Mutations in the AF-2 region abolish ligand-induced intranuclear immobilization of the liver X receptor alpha. Experimental Cell Research 314(14): 2652-2660

Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures. Arquivos de Neuro-Psiquiatria 66(2a): 288; Author Reply 288-9

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. European Heart Journal 30(17): 2128-2136

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review. Biomed Research International 2014: 371256-371256

Mutations in the AXIN1 gene in advanced prostate cancer. European Urology 56(3): 486-494

Mutations in the Aeromonas salmonicida subsp. salmonicida type III secretion system affect Atlantic salmon leucocyte activation and downstream immune responses. Fish & Shellfish Immunology 27(6): 721-728

Mutations in the Arabidopsis RPK1 gene uncouple cotyledon anlagen and primordia by modulating epidermal cell shape and polarity. Biology Open 2(11): 1093-1102

Mutations in the Arabidopsis homolog of LST8/GβL, a partner of the target of Rapamycin kinase, impair plant growth, flowering, and metabolic adaptation to long days. Plant Cell 24(2): 463-481

Mutations in the Arabidopsis nuclear-encoded mitochondrial phage-type RNA polymerase gene RPOTm led to defects in pollen tube growth, female gametogenesis and embryogenesis. Plant & Cell Physiology 51(4): 635-649

Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series. Molecular Biology of the Cell 20(1): 530-543

Mutations in the ArsA ATPase that restore interaction with the ArsD metallochaperone. Biometals 27(6): 1263-1275

Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study. Immunology Letters 162(1 Pt A): 49-52

Mutations in the BC-loop of the BKV VP1 region do not influence viral load in renal transplant patients. Journal of Medical Virology 81(1): 75-81

Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes. Journal of Biological Chemistry 289(20): 14291-14300

Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia. Biomedica 29(1): 61-72

Mutations in the BRCT binding site of BRCA1 result in hyper-recombination. Aging 3(5): 515-532

Mutations in the Bacillus subtilis beta clamp that separate its roles in DNA replication from mismatch repair. Journal of Bacteriology 192(13): 3452-3463

Mutations in the C-terminal loop of the nucleocapsid protein affect vesicular stomatitis virus RNA replication and transcription differentially. Journal of Virology 83(22): 11429-11439

Mutations in the C-terminal region of the HIV-1 reverse transcriptase and their correlation with drug resistance associated mutations and antiviral treatment. European Journal of Medical Research 15(10): 415-421

Mutations in the C-terminus of the X protein of hepatitis B virus regulate Wnt-5a expression in hepatoma Huh7 cells: cDNA microarray and proteomic analyses. Carcinogenesis 29(6): 1207-1214

Mutations in the C-terminus of the conserved NDR kinase, Cbk1p of Saccharomyces cerevisiae, make the protein independent of upstream activators. Molecular Genetics and Genomics 283(2): 111-122

Mutations in the CCD4 carotenoid cleavage dioxygenase gene of yellow-flesh peaches. Bioscience, Biotechnology, and Biochemistry 77(12): 2514-2516

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 137(Pt 12): E311-E311

Mutations in the CHD7 gene: the experience of a commercial laboratory. Genetic Testing and Molecular Biomarkers 14(6): 881-891

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clinical Genetics 72(2): 164-166

Mutations in the CYP51 gene correlated with changes in sensitivity to sterol 14 alpha-demethylation inhibitors in field isolates of Mycosphaerella graminicola. Pest Management Science 63(7): 688-698

Mutations in the Caenorhabditis elegans U2AF large subunit UAF-1 alter the choice of a 3' splice site in vivo. Plos Genetics 5(11): E1000708-E1000708

Mutations in the Cc.rmt1 gene encoding a putative protein arginine methyltransferase alter developmental programs in the basidiomycete Coprinopsis cinerea. Current Genetics 56(4): 361-367

Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis. Gene 429(1-2): 23-30

Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome. Jimd Reports 14: 43-45

Mutations in the Cyp51A gene and susceptibility to itraconazole in Aspergillus fumigatus isolated from avian farms in France and China. Poultry Science 93(1): 12-15

Mutations in the D-channel of cytochrome c oxidase causes leakage of the proton pump. Febs Letters 588(4): 545-548

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. American Journal of Human Genetics 87(2): 282-288

Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. Cancer Discovery 1(1): 78-89

Mutations in the DNA-binding codons of TP53, which are associated with decreased expression of TRAILreceptor-2, predict for poor survival in diffuse large B-cell lymphoma. Blood 110(13): 4396-4405

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. Plos One 4(10): E7379-E7379

Mutations in the Drosophila alphaPS2 integrin subunit uncover new features of adhesion site assembly. Developmental Biology 308(2): 294-308

Mutations in the Drosophila insulin receptor substrate, CHICO, impair olfactory associative learning. Neuroscience Research 73(1): 49-55

Mutations in the Drosophila ortholog of the vertebrate Golgi pH regulator (GPHR) protein disturb endoplasmic reticulum and Golgi organization and affect systemic growth. Biology Open 3(1): 72-80

Mutations in the E2 and NS5A regions in patients infected with hepatitis C virus genotype 1a and their correlation with response to treatment. Journal of Medical Virology 83(8): 1332-1337

Mutations in the E2-PePHD region of hepatitis C virus genotype-3a and correlation with response to interferon and ribavirin combination therapy in Pakistani patients. Virology Journal 7: 377-377

Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia. Zhonghua Kou Qiang Yi Xue Za Zhi 42(5): 272-275

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. European Journal of Oral Sciences 116(5): 412-417

Mutations in the EDR1 Gene Alter the Response of Arabidopsis thaliana to Phytophthora infestans and the Bacterial PAMPs flg22 and elf18. Molecular Plant-Microbe Interactions 28(2): 122-133

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. Plos One 8(8): E72518-E72518

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. Journal of Clinical Investigation 122(2): 538-544

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology 117(10): 2026-33, 2033.E1-7

Mutations in the F-box gene LARGER PANICLE improve the panicle architecture and enhance the grain yield in rice. Plant Biotechnology Journal 9(9): 1002-1013

Mutations in the F-box gene SNEEZY result in decreased Arabidopsis GA signaling. Plant Signaling & Behavior 6(6): 831-833

Mutations in the FHA-domain of ectopically expressed NBS1 lead to radiosensitization and to no increase in somatic mutation rates via a partial suppression of homologous recombination. Journal of Radiation Research 55(4): 690-698

Mutations in the FMN domain modulate MCD spectra of the heme site in the oxygenase domain of inducible nitric oxide synthase. Journal of the American Chemical Society 131(20): 6940-6941

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Human Molecular Genetics 23(14): 3657-3665

Mutations in the FPIV motif of Newcastle disease virus matrix protein attenuate virus replication and reduce virus budding. Archives of Virology 159(7): 1813-1819

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918): 1205-1208

Mutations in the Filaggrin are Predisposing Factor in Korean Children With Atopic Dermatitis. Allergy, Asthma & Immunology Research 5(4): 211-215

Mutations in the G6PC3 gene cause Dursun syndrome. American Journal of Medical Genetics. Part A 152a(10): 2609-2611

Mutations in the GABAA receptor that mimic the allosteric ligand etomidate. Methods in Molecular Biology 796: 317-333

Mutations in the GATA4 gen in patients with non-syndromic congenital heart disease. Investigacion Clinica 55(3): 207-216

Mutations in the GM1 binding site of simian virus 40 VP1 alter receptor usage and cell tropism. Journal of Virology 86(13): 7028-7042

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Human Mutation 30(8): E782-E796

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. Journal of Biological Chemistry 287(34): 28975-28985

Mutations in the H, F, or M Proteins Can Facilitate Resistance of Measles Virus to Neutralizing Human Anti-MV Sera. Advances in Virology 2014: 205617-205617

Mutations in the HD and PEST domain of Notch-1 receptor in T-cell acute lymphoblastic leukemia: report of novel mutations from Indian population. Oncology Research 19(2): 99-104

Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects. Circulation. Cardiovascular Genetics 1(1): 43-50

Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies. Brazilian Journal of Medical and Biological Research 47(3): 215-222

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. Gene 508(1): 15-20

Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. Medecine Sciences 25(3): 235-238

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 71(21): 1660-1668

Mutations in the JAK2 and MPL genes and their correlation to clinical parameters in patients with chronic myeloproliferative disease. Onkologie 32(4): 191-195

Mutations in the K(+)-channel KcsA toward Kir channels alter salt-induced clusterization and blockade by quaternary alkylammonium ions. Journal of Membrane Biology 233(1-3): 43-50

Mutations in the KRAS gene in ovarian tumors. Folia Histochemica et Cytobiologica 47(2): 221-224

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients. Nutrition, Metabolism, and Cardiovascular Diseases 19(6): 391-400

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Molecular Vision 16(): 2847-2849

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. Journal of Dermatological Science 56(3): 205-207

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clinical and Experimental Dermatology 36(6): 652-654

Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways. Human Molecular Genetics 18(20): 3955-3968

Mutations in the Lipopolysaccharide biosynthesis pathway interfere with crescentin-mediated cell curvature in Caulobacter crescentus. Journal of Bacteriology 192(13): 3368-3378

Mutations in the M112/M113-coding region facilitate murine cytomegalovirus replication in human cells. Journal of Virology 84(16): 7994-8006

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India. Haemophilia 13(4): 413-419

Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients. Journal of Child Neurology 24(1): 49-55

Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation. Clinical Genetics 81(5): 430-430

Mutations in the N terminus of the oX174 DNA pilot protein H confer defects in both assembly and host cell attachment. Journal of Virology 88(3): 1787-1794

Mutations in the N-terminal region of the Schizosaccharomyces pombe glutathione transporter pgt1⁺ allows functional expression in Saccharomyces cerevisiae. Yeast 30(2): 45-54

Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale. Clinical Neurology and Neurosurgery 111(7): 574-578

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure. Clinical Endocrinology 66(6): 900-900

Mutations in the NS1 C-terminal tail do not enhance replication or virulence of the 2009 pandemic H1N1 influenza A virus. Journal of General Virology 91(Pt 7): 1737-1742

Mutations in the NS5A gene are associated with response to interferon+ribavirin combination therapy in patients with chronic hepatitis C virus 3a infection. European Journal of Gastroenterology & Hepatology 25(10): 1146-1151

Mutations in the NS5A gene of hepatitis C virus subtype 1b and response to peg-IFNα-2a/RBV combination therapy in Azerbaijani patients. Archives of Virology 159(11): 2893-2899

Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. Clinical Cancer Research 14(13): 4053-4058

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. Audiology & Neuro-Otology 15(6): 364-374

Mutations in the P-type cation-transporter ATPase 4, PfATP4, mediate resistance to both aminopyrazole and spiroindolone antimalarials. Acs Chemical Biology 10(2): 413-420

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. British Journal of Dermatology 160(5): 1006-1010

Mutations in the P3 protein of Soybean mosaic virus G2 isolates determine virulence on Rsv4-genotype soybean. Molecular Plant-Microbe Interactions 24(1): 37-43

Mutations in the PAX9 gene in sporadic oligodontia. Orthodontics & Craniofacial Research 13(3): 142-152

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. Clinical Genetics 80(5): 503-504

Mutations in the PTEN tumor gene and risk of endometriosis: a case-control study. Human Reproduction 29(2): 324-336

Mutations in the PX-SH3A linker of p47phox decouple PI(3,4)P2 binding from NADPH oxidase activation. Biochemistry 47(34): 8855-8865

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. Parkinsonism & Related Disorders 16(2): 132-135

Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia. Journal of Clinical Endocrinology and Metabolism 99(1): 67-69

Mutations in the Predicted Active Site of Xanthomonas oryzae pv. oryzae XopQ Differentially Affect Virulence, Suppression of Host Innate Immunity, and Induction of the HR in a Nonhost Plant. Molecular Plant-Microbe Interactions 28(2): 195-206

Mutations in the Pseudomonas aeruginosa needle protein gene pscF confer resistance to phenoxyacetamide inhibitors of the type III secretion system. Antimicrobial Agents and ChemoTherapy 58(4): 2211-2220

Mutations in the RAS/RAF/MAP kinase pathway commonly occur in gallbladder adenomas but are uncommon in gallbladder adenocarcinomas. Applied Immunohistochemistry & Molecular Morphology 19(2): 133-140

Mutations in the RET proto-oncogene in medullary thyroid carcinoma. Clinical Laboratory 53(5-6): 283-284

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science 331(6024): 1571-1576

Mutations in the RNA splicing machinery genes in myelofibrotic transformation of essential thrombocythaemia and polycythaemia vera. British Journal of Haematology 164(4): 605-607

Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux. Pediatric Nephrology 24(8): 1501-1508

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. Intractable & Rare Diseases Research 1(1): 30-34

Mutations in the Ras-Raf Axis underlie the prognostic value of CD133 in colorectal cancer. Clinical Cancer Research 18(11): 3132-3141

Mutations in the S gene region of hepatitis B virus genotype D in Turkish patients. Journal of Genetics 86(3): 195-201

Mutations in the S6 gate isolate a late step in the activation pathway and reduce 4-AP sensitivity in shaker K(v) channel. Biophysical Journal 106(1): 134-144

Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?. Forensic Science International. Genetics 1(2): 170-174

Mutations in the SLAC1 anion channel slow stomatal opening and severely reduce K+ uptake channel activity via enhanced cytosolic [Ca2+] and increased Ca2+ sensitivity of K+ uptake channels. New Phytologist 197(1): 88-98

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. Jop 10(4): 457-458

Mutations in the SLC2A10 gene cause arterial abnormalities in mice. Cardiovascular Research 81(2): 381-388

Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. Plos Genetics 4(11): E1000246-E1000246

Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. Journal of Dermatological Science 56(1): 27-32

Mutations in the SOD2 promoter reveal a molecular basis for an activating protein 2-dependent dysregulation of manganese superoxide dismutase expression in cancer cells. Molecular Cancer Research 6(12): 1881-1893

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia. Atherosclerosis 225(2): 370-375

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. American Journal of Human Genetics 88(1): 92-98

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 137(Pt 5): 1323-1336

Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts. Dna and Cell Biology 33(7): 399-407

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics 87(4): 513-522

Mutations in the STAT1‑interacting domain of the hepatitis C virus core protein modulate the response to antiviral therapy. Molecular Medicine Reports 8(2): 487-492

Mutations in the Saccharomyces cerevisiae kinase Cbk1p lead to a fertility defect that can be suppressed by the absence of Brr1p or Mpt5p (Puf5p), proteins involved in RNA metabolism. Genetics 183(1): 161-173

Mutations in the Saccharomyces cerevisiae succinate dehydrogenase result in distinct metabolic phenotypes revealed through (1)H NMR-based metabolic footprinting. Journal of Proteome Research 9(12): 6729-6739

Mutations in the Saccharomyces cerevisiae vacuolar fusion proteins Ccz1, Mon1 and Ypt7 cause defects in cell cycle progression in a num1Delta background. European Journal of Cell Biology 88(11): 639-652

Mutations in the Sup35 gene impairs degradation of mRNA containing premature stop codons. Molekuliarnaia Biologiia 44(1): 51-59

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. Journal of Medical Genetics 51(2): 90-97

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. Archives of Neurology 69(6): 790-791

Mutations in the TSGA14 gene in families with autism spectrum disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 156b(3): 303-311

Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy. American Journal of Ophthalmology 151(6): 1095-1100.E1

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertility and Sterility 92(4): 1347-1350

Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8. Rna 15(7): 1292-1304

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. Plos One 2(8): E685-E685

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. Plos Genetics 9(12): E1004034-E1004034

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina 31(8): 1708-1716

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. Molecular Syndromology 4(6): 257-266

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics 127(1): 55-64

Mutations in the WTX-gene are found in some high-grade microsatellite instable (MSI-H) colorectal cancers. Bmc Cancer 10(): 413-413

Mutations in the X-linked intellectual disability gene, zDHHC9, alter autopalmitoylation activity by distinct mechanisms. Journal of Biological Chemistry 289(26): 18582-18592

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science 54(2): 1411-1416

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. Japanese Journal of Ophthalmology 54(1): 89-93

Mutations in the alpha-helical region of the amino terminus of the Maize rayado fino virus capsid protein and CP:RNA ratios affect virus-like particle encapsidation of RNAs. Virus Research 196: 70-78

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Human Mutation 30(7): 1093-1103

Mutations in the amino terminus of herpes simplex virus type 1 gL can reduce cell-cell fusion without affecting gH/gL trafficking. Journal of Virology 88(1): 739-744

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. Journal of Clinical Endocrinology and Metabolism 93(11): 4494-4499

Mutations in the antifolate-resistance-associated genes dihydrofolate reductase and dihydropteroate synthase in Plasmodium vivax isolates from malaria-endemic countries. American Journal of Tropical Medicine and Hygiene 83(3): 474-479

Mutations in the antiviral RNAi defense pathway modify Brome mosaic virus RNA recombinant profiles. Molecular Plant-Microbe Interactions 25(1): 97-106

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. European Heart Journal 34(3): 201-210

Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients. Revista de Investigacion Clinica; Organo del Hospital de Enfermedades de la Nutricion 60(3): 255-262

Mutations in the ataxia telangiectasia and rad3-related-checkpoint kinase 1 DNA damage response axis in colon cancers. Genes, Chromosomes & Cancer 46(12): 1061-1068

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the Rheumatic Diseases 70(3): 495-499

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. American Journal of Human Genetics 85(5): 699-705

Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. Journal of International Medical Research 38(3): 810-820

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proceedings of the National Academy of Sciences of the United States of America 106(15): 6291-6296

Mutations in the beta1 adrenergic receptor gene and massive obesity in Japanese. Diabetes Research and Clinical Practice 80(2): 213-217

Mutations in the bovine ABCG2 and the ovine MSTN gene added to the few quantitative trait nucleotides identified in farm animals: a mini-review. Journal of Applied Genetics 51(3): 289-297

Mutations in the c-Kit gene disrupt mitogen-activated protein kinase signaling during tumor development in adenoid cystic carcinoma of the salivary glands. Neoplasia 12(9): 708-717

Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics 17(24): 3965-3974

Mutations in the capsid protein of Brome mosaic virus affecting encapsidation eliminate vesicle induction in planta: implications for virus cell-to-cell spread. Journal of Virology 87(16): 8982-8992

Mutations in the carboxyl-terminal SEC24 binding motif of the serotonin transporter impair folding of the transporter. Journal of Biological Chemistry 285(50): 39201-39210

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 7(12): 1872-1882

Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood. Cardiology in the Young 17(6): 675-677

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation. European Journal of Medical Genetics 53(4): 201-203

Mutations in the catalytic domain of human matrix metalloproteinase-1 (MMP-1) that allow for regulated activity through the use of Ca2+. Journal of Biological Chemistry 288(9): 6629-6639

Mutations in the catalytic loop HRD motif alter the activity and function of Drosophila Src64. Plos One 6(11): E28100-E28100

Mutations in the chikungunya virus non-structural proteins cause resistance to favipiravir (T-705), a broad-spectrum antiviral. Journal of Antimicrobial ChemoTherapy 69(10): 2770-2784

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. Plos Genetics 10(5): E1004333-E1004333

Mutations in the chromodomain-like insertion of translation elongation factor 3 compromise protein synthesis through reduced ATPase activity. Journal of Biological Chemistry 289(8): 4853-4860

Mutations in the chromosomal passenger complex and the condensin complex differentially affect synaptonemal complex disassembly and metaphase I configuration in Drosophila female meiosis. Genetics 181(3): 875-887

Mutations in the cinnamate 4-hydroxylase gene impact metabolism, growth and development in Arabidopsis. Plant Journal 60(5): 771-782

Mutations in the circadian gene CLOCK in colorectal cancer. Molecular Cancer Research 8(7): 952-960

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young. Cardiovascular Diabetology 8: 63-63

Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications. Blood 123(6): 914-920

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Human Molecular Genetics 23(9): 2353-2363

Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. Genetic Testing and Molecular Biomarkers 14(4): 539-541

Mutations in the conserved glycine and serine of the MutS ABC signature motif affect nucleotide exchange, kinetics of sliding clamp release of mismatch and mismatch repair. Mutation Research 684(1-2): 56-65

Mutations in the control of virulence sensor gene from Streptococcus pyogenes after infection in mice lead to clonal bacterial variants with altered gene regulatory activity and virulence. Plos One 9(6): E100698-E100698

Mutations in the core and NS5A region of hepatitis C virus genotype 1b and correlation with response to pegylated-interferon-alpha 2b and ribavirin combination therapy. Journal of Viral Hepatitis 18(4): 280-286

Mutations in the cytoplasmic domain of the Newcastle disease virus fusion protein confer hyperfusogenic phenotypes modulating viral replication and pathogenicity. Journal of Virology 87(18): 10083-10093

Mutations in the cytoplasmic tail of herpes simplex virus 1 gH reduce the fusogenicity of gB in transfected cells. Journal of Virology 87(18): 10139-10147

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. Journal of Dermatological Science 53(3): 192-197

Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. Journal of Biological Chemistry 286(46): 40232-40245

Mutations in the ectodomain of newcastle disease virus fusion protein confer a hemagglutinin-neuraminidase-independent phenotype. Journal of Virology 84(2): 1066-1075

Mutations in the embB gene and their association with ethambutol resistance in multidrug-resistant Mycobacterium tuberculosis clinical isolates from Poland. Biomed Research International 2013: 167954-167954

Mutations in the embC-embA intergenic region contribute to Mycobacterium tuberculosis resistance to ethambutol. Antimicrobial Agents and ChemoTherapy 58(11): 6837-6843

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Journal of Medical Genetics 51(7): 470-474

Mutations in the epidermal growth factor receptor (EGFR) gene in triple negative breast cancer: possible implications for targeted therapy. Breast Cancer Research 13(2): R35-R35

Mutations in the epidermal growth factor receptor gene and effects of EGFR-tyrosine kinase inhibitors on lung cancers. General Thoracic and Cardiovascular Surgery 56(3): 97-103

Mutations in the epidermal growth factor receptor gene in non-small cell lung cancer: Impact on treatment beyond gefitinib and erlotinib. Advances in Therapy 28(2): 126-133

Mutations in the essential Escherichia coli gene, yqgF, and their effects on transcription. Journal of Molecular Microbiology and Biotechnology 22(1): 17-23

Mutations in the essential arabinosyltransferase EmbC lead to alterations in Mycobacterium tuberculosis lipoarabinomannan. Journal of Biological Chemistry 289(51): 35172-35181

Mutations in the exon 10 of prolactin receptor gene change the egg production performance in Wanjiang white goose. Molecular Biology Reports 39(1): 475-483

Mutations in the exon 7 of Trp53 gene and the level of p53 protein in double transgenic mouse model of Alzheimer's disease. Folia Neuropathologica 52(1): 30-40

Mutations in the external loops of BK virus VP1 and urine viral load in renal transplant recipients. Journal of Cellular Physiology 222(1): 195-199

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. American Journal of Human Genetics 85(2): 248-253

Mutations in the feline immunodeficiency virus envelope glycoprotein confer resistance to a dominant-negative fragment of Tsg101 by enhancing infectivity and cell-to-cell virus transmission. Biochimica et Biophysica Acta 1838(4): 1143-1152

Mutations in the filaggrin gene and food allergy. Przeglad Gastroenterologiczny 9(4): 200-207

Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. Allergy 66(3): 420-427

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope 119(4): 727-733

Mutations in the fks1 gene in Candida albicans, C. tropicalis, and C. krusei correlate with elevated caspofungin MICs uncovered in AM3 medium using the method of the European Committee on Antibiotic Susceptibility Testing. Antimicrobial Agents and ChemoTherapy 52(9): 3092-3098

Mutations in the flhD gene of Escherichia coli K-12 do not cause the reported effect on cell division. Fems Microbiology Letters 309(1): 94-99

Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function. Cancer Research 68(19): 7718-7722

Mutations in the fourth EGF-like domain affect thrombomodulin-induced changes in the active site of thrombin. Biochemistry 47(41): 10933-9

Mutations in the fusion protein cleavage site of avian paramyxovirus serotype 4 confer increased replication and syncytium formation in vitro but not increased replication and pathogenicity in chickens and ducks. Plos One 8(1): E50598-E50598

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. Plos One 7(1): E29729-E29729

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 1(1): 2-12

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. Journal of Molecular Biology 414(3): 413-426

Mutations in the gene encoding DMT1: clinical presentation and treatment. Seminars in Hematology 46(4): 358-370

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics 93(5): 932-944

Mutations in the gene encoding bone morphogenetic protein receptor 2 in patients with idiopathic pulmonary arterial hypertension. Archivos de Bronconeumologia 44(1): 29-34

Mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Ugeskrift for Laeger 173(7): 507-508

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology 80(5): 458-463

Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. Arquivos Brasileiros de Endocrinologia E Metabologia 54(6): 555-559

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics 86(4): 551-559

Mutations in the gene encoding the ancillary pilin subunit of the Streptococcus suis srtF cluster result in pili formed by the major subunit only. Plos One 5(1): E8426-E8426

Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia. European Journal of Dermatology 22(6): 736-739

Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. Journal of the American Society of Nephrology 25(9): 1991-2002

Mutations in the genes coding for the NF-κB regulating factors IκBα and A20 are uncommon in nodular lymphocyte-predominant Hodgkin's lymphoma. Haematologica 95(1): 153-157

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Human Mutation 34(5): 669-685

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Neurology 76(3): 301-303

Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care 31(4): 753-757

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Human Mutation 29(7): 921-930

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics 90(4): 685-688

Mutations in the gyrB, parC, and parE genes of quinolone-resistant isolates and mutants of Edwardsiella tarda. Journal of Microbiology and Biotechnology 20(12): 1735-1743

Mutations in the heart's pacemaker channels--a new cause of sick sinus node syndrome and long-QT syndrome. Ugeskrift for Laeger 170(11): 929-933

Mutations in the hedgehog pathway genes SMO and PTCH1 in human gastric tumors. Plos One 8(1): E54415-E54415

Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis. Journal of Neuroimmunology 203(1): 104-107

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. American Journal of Human Genetics 84(6): 760-770

Mutations in the hepatitis B virus and treatment of hepatitis. Nihon Shokakibyo Gakkai Zasshi 105(2): 199-205

Mutations in the hepatitis C virus core gene are associated with advanced liver disease and hepatocellular carcinoma. Clinical Cancer Research 15(9): 3205-3213

Mutations in the hepatitis C virus polymerase that increase RNA binding can confer resistance to cyclosporine A. Hepatology 50(1): 25-33

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. American Journal of Obstetrics and Gynecology 203(4): 364.E1-5

Mutations in the highly conserved SLQYLA motif of Vif in a simian-human immunodeficiency virus result in a less pathogenic virus and are associated with G-to-A mutations in the viral genome. Virology 383(2): 362-372

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. Plos One 9(5): E96192-E96192

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. Journal of Clinical Investigation 121(3): 976-984

Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Human Molecular Genetics 17(24): 3919-3928

Mutations in the human UBR1 gene and the associated phenotypic spectrum. Human Mutation 35(5): 521-531

Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. Seminars in Reproductive Medicine 25(5): 368-378

Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. Tohoku Journal of Experimental Medicine 217(4): 307-312

Mutations in the human kinesin Eg5 that confer resistance to monastrol and S-trityl-L-cysteine in tumor derived cell lines. Biochemical Pharmacology 79(6): 864-872

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Human Mutation 31(9): 992-1002

Mutations in the human naked cuticle homolog NKD1 found in colorectal cancer alter Wnt/Dvl/beta-catenin signaling. Plos One 4(11): E7982-E7982

Mutations in the hyperosmotic stress-responsive mitochondrial BASIC AMINO ACID CARRIER2 enhance proline accumulation in Arabidopsis. Plant Physiology 152(4): 1851-1862

Mutations in the interferon sensitivity determining region and virological response to combination therapy with pegylated-interferon alpha 2b plus ribavirin in patients with chronic hepatitis C-1b infection. Journal of Gastroenterology 45(6): 656-665

Mutations in the interferon sensitivity-determining region of hepatitis C virus genotype 2a correlate with response to pegylated-interferon-alpha 2a monotherapy. Journal of Medical Virology 81(3): 459-466

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis. Molecular Genetics & Genomic Medicine 1(4): 223-237

Mutations in the intersubunit bridge regions of 16S rRNA affect decoding and subunit-subunit interactions on the 70S ribosome. Nucleic Acids Research 39(8): 3321-3330

Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia. Biomarker Research 2(): 18-18

Mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 in tumors. Advances in Anatomic Pathology 20(1): 32-38

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clinical and Experimental Dermatology 35(7): 759-764

Mutations in the let-7 binding site - a mechanism of RAS activation in juvenile myelomonocytic leukemia?. Haematologica 95(9): 1616-1616

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. Australasian Journal of Dermatology 56(3): E66-E70

Mutations in the lipid A deacylase PagL which release the enzyme from its latency affect the ability of PagL to interact with lipopolysaccharide in Salmonella enterica serovar Typhimurium. Biochemical and Biophysical Research Communications 396(4): 812-816

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. Human Molecular Genetics 23(7): 1907-1915

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. New England Journal of Medicine 362(8): 677-685

Mutations in the main cytoplasmic loop of the GABA(A) receptor α4 and δ subunits have opposite effects on surface expression. Molecular Pharmacology 86(1): 20-27

Mutations in the major outer membrane protein gene from Histophilus somni by an allelic exchange method. Journal of Microbiological Methods 106: 83-92

Mutations in the melanocortin 1 receptor, β-defensin103 and agouti signaling protein genes, and their association with coat color phenotypes in Akita-inu dogs. Journal of Veterinary Medical Science 73(7): 853-858

Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. Experimental and Clinical Endocrinology & Diabetes 117(6): 266-273

Mutations in the melanocortin-3 receptor (MC3R) gene: Impact on human obesity or adiposity. Current Opinion in Investigational Drugs 11(10): 1092-1096

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 120(12): 2697-2705

Mutations in the mitochondrial 12S rRNA gene in elderly Chinese people. Acta Oto-Laryngologica 135(1): 26-34

Mutations in the mitochondrial DNA D-loop region and breast cancer risk. Breast Cancer Research and Treatment 119(2): 431-436

Mutations in the mitochondrial cytochrome b of Tetranychus urticae Koch (Acari: Tetranychidae) confer cross-resistance between bifenazate and acequinocyl. Pest Management Science 65(4): 404-412

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. European Journal of Medical Genetics 56(11): 599-602

Mutations in the mitochondrial genome confer resistance of cancer cells to anticancer drugs. Cancer Science 100(9): 1680-1687

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clinical Genetics 76(2): 188-194

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. Plos Biology 10(3): E1001288-E1001288

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. American Journal of Human Genetics 88(2): 193-200

Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease. Neurologia i Neurochirurgia Polska 41(4): 350-354

Mutations in the myostatin gene leading to hypermuscularity in mammals: indications for a similar mechanism in fish?. Animal Genetics 42(3): 229-234

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. Journal of Clinical Investigation 118(7): 2496-2505

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Human Molecular Genetics 19(22): 4462-4473

Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. Genetic Testing and Molecular Biomarkers 13(3): 289-290

Mutations in the non-structural protein region contribute to intra-genotypic evolution of enterovirus 71. Journal of Biomedical Science 21(): 33-33

Mutations in the nonstructural protein 3A confer resistance to the novel enterovirus replication inhibitor TTP-8307. Antimicrobial Agents and ChemoTherapy 53(5): 1850-1857

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. Pathogenetics 3(): 1-1

Mutations in the nucleolar phosphoprotein, nucleophosmin, promote the expression of the oncogenic transcription factor MEF/ELF4 in leukemia cells and potentiates transformation. Journal of Biological Chemistry 288(13): 9457-9467

Mutations in the p53 gene at codon 249 are rare in squamous-cell carcinoma of the head and neck. International Journal of Oncology 1(3): 253-256

Mutations in the p53 suppressor gene do not correlate with C-k-ras oncogene mutations in colorectal-cancer. International Journal of Oncology 2(2): 123-134

Mutations in the palm subdomain of Twa DNA polymerase to enhance PCR efficiency and its function analysis. Journal of Biotechnology 184: 39-46

Mutations in the parainfluenza virus 5 fusion protein reveal domains important for fusion triggering and metastability. Journal of Virology 87(24): 13520-13531

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Annals of Hematology 88(6): 535-543

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. Parkinsonism & Related Disorders 18(1): 89-92

Mutations in the passenger polypeptide can affect its partitioning between mitochondria and cytoplasm: mutations can impair the mitochondrial import of DsRed. Molecular Biology Reports 35(2): 215-223

Mutations in the paxillin-binding site of integrin-linked kinase (ILK) destabilize the pseudokinase domain and cause embryonic lethality in mice. Journal of Biological Chemistry 288(26): 18863-18871

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. Rheumatology 49(3): 441-449

Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. Chinese Medical Journal 122(23): 2851-2855

Mutations in the periplasmic chaperone leading to loss of surface expression of the colonization factor CS6 in enterotoxigenic Escherichia coli (ETEC) clinical isolates. Microbial Pathogenesis 44(3): 246-254

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Molecular Genetics and Metabolism 91(3): 218-227

Mutations in the phosphatidylinositol 3-kinase pathway: role in tumor progression and therapeutic implications in breast cancer. Breast Cancer Research 13(6): 224-224

Mutations in the phosphatidylinositol-3-kinase pathway predict for antitumor activity of the inhibitor PX-866 whereas oncogenic Ras is a dominant predictor for resistance. Cancer Research 69(1): 143-150

Mutations in the phospholipid remodeling gene SERAC1 cause MEGDEL syndrome. Movement Disorders 27(14): 1738-1738

Mutations in the plant-conserved MTERF9 alter chloroplast gene expression, development and tolerance to abiotic stress in Arabidopsis thaliana. Physiologia Plantarum 154(2): 297-313

Mutations in the polybasic juxtamembrane sequence of both plasma membrane- and endoplasmic reticulum-localized epidermal growth factor receptors confer ligand-independent cell transformation. Journal of Biological Chemistry 288(48): 34930-34942

Mutations in the polycomb group gene polyhomeotic lead to epithelial instability in both the ovary and wing imaginal disc in Drosophila. Plos One 5(11): E13946-E13946

Mutations in the pqe-1 gene enhance transgene expression in Caenorhabditis elegans. G3 2(7): 741-751

Mutations in the primary sigma factor σA and termination factor rho that reduce susceptibility to cell wall antibiotics. Journal of Bacteriology 196(21): 3700-3711

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. Journal of Inherited Metabolic Disease 33(6): 715-725

Mutations in the protamine locus: association with spermatogenic failure?. Molecular Human Reproduction 15(11): 733-738

Mutations in the proteolipid subunits of the vacuolar H+-ATPase provide resistance to indolotryptoline natural products. Biochemistry 53(45): 7123-7131

Mutations in the putative dimer-dimer interfaces of the measles virus hemagglutinin head domain affect membrane fusion triggering. Journal of Biological Chemistry 288(12): 8085-8091

Mutations in the quinolone resistance-determining regions of gyrA and parC in Enterobacteriaceae isolates from Brazil. Brazilian Journal of Microbiology 43(4): 1309-1314

Mutations in the regulatory network underlie the recent clonal expansion of a dominant subclone of the Mycobacterium tuberculosis Beijing genotype. Infection, Genetics and Evolution 11(3): 587-597

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. Haematologica 95(8): 1293-1299

Mutations in the rpoB gene of rifampin-resistant Mycobacterium tuberculosis isolates from Eastern Poland. New Microbiologica 32(2): 147-152

Mutations in the rpsL gene are involved in streptomycin resistance in Campylobacter coli. Microbial Drug Resistance 16(2): 105-110

Mutations in the rrs A1401G gene and phenotypic resistance to amikacin and capreomycin in Mycobacterium tuberculosis. Microbial Drug Resistance 18(2): 193-197

Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circulation. Cardiovascular Genetics 4(1): 43-50

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 13(2): 115-124

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. Journal of Clinical Investigation 120(12): 4220-4235

Mutations in the sensitive giant titin result in a broken heart. Circulation Research 111(2): 158-161

Mutations in the signature motif in MutS affect ATP-induced clamp formation and mismatch repair. Molecular Microbiology 69(6): 1544-1559

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. American Journal of Human Genetics 86(2): 185-195

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Molecular Vision 19(): 2407-2417

Mutations in the sodium channel associated with pyrethroid resistance in the greenhouse whitefly, Trialeurodes vaporariorum. Pest Management Science 68(6): 834-838

Mutations in the spike glycoprotein of human coronavirus OC43 modulate disease in BALB/c mice from encephalitis to flaccid paralysis and demyelination. Journal of Neurovirology 16(4): 279-293

Mutations in the stalk region of the measles virus hemagglutinin inhibit syncytium formation but not virus entry. Journal of Virology 84(20): 10913-7

Mutations in the substrate binding site of human heat-shock protein 70 indicate specific interaction with HLA-DR outside the peptide binding groove. Immunology 142(2): 237-247

Mutations in the substrate entrance region of β-glucosidase from Trichoderma reesei improve enzyme activity and thermostability. Protein Engineering, Design & Selection 25(11): 733-740

Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. Neuromolecular Medicine 13(1): 77-87

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clinical Genetics 75(5): 427-428

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78(22): 1714-1720

Mutations in the testis-specific enhancer of SOX9 in the SRY independent sex-determining mechanism in the genus Tokudaia. Plos One 9(9): E108779-E108779

Mutations in the tetramerization domain of p53: more than just keeping monomers apart. Cell Cycle 8(20): 3259-3260

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction. Diabetic Medicine 26(1): 113-114

Mutations in the thumb allow human immunodeficiency virus type 1 reverse transcriptase to be cleaved by protease in virions. Journal of Virology 83(23): 12336-12344

Mutations in the thumb-connection and RNase H domain of HIV type-1 reverse transcriptase of antiretroviral treatment-experienced patients. Antiviral Therapy 14(2): 231-239

Mutations in the transcription elongation factor SPT5 disrupt a reporter for dosage compensation in Drosophila. Plos Genetics 8(11): E1003073-E1003073

Mutations in the transmembrane and juxtamembrane domains enhance IL27R transforming activity. Biochemical Journal 438(1): 155-164

Mutations in the transmembrane domain M3 generate spontaneously open orphan glutamate δ1 receptor. Brain Research 1382: 1-8

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. Journal of Medical Genetics 51(12): 834-838

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. Journal of Medical Genetics 46(6): 407-411

Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Arquivos Brasileiros de Endocrinologia E Metabologia 52(8): 1244-1251

Mutations in the voltage-gated sodium channel gene of anophelines and their association with resistance to pyrethroids - a review. Parasites & Vectors 7: 450-450

Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas. Hereditary Cancer in Clinical Practice 2(2): 93-97

Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. Investigative Ophthalmology & Visual Science 55(9): 5629-5635

Mutations in the β subunit of RNA polymerase alter intrinsic cephalosporin resistance in Enterococci. Antimicrobial Agents and ChemoTherapy 56(4): 2022-2027

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Molecular Vision 17(): 1373-1380

Mutations in the β-tubulin binding site for peloruside A confer resistance by targeting a cleft significant in side chain binding. Cell Cycle 10(19): 3387-3396

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Reports 2(6): 1554-1562

Mutations in three distinct loci cause resistance to peptide deformylase inhibitors in Bacillus subtilis. Antimicrobial Agents and ChemoTherapy 53(4): 1673-1678

Mutations in toll-like receptor 3 are associated with elevated levels of rotavirus-specific IgG antibodies in IgA-deficient but not IgA-sufficient individuals. Clinical and Vaccine Immunology 21(3): 298-301

Mutations in transcriptional regulators allow selective engineering of signal integration logic. Mbio 5(3): E01171-14

Mutations in transhydrogenase change the fluorescence emission state of TRP72 from 1La to 1Lb. Biophysical Journal 95(7): 3419-3428

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathologica Communications 2: 69-69

Mutations in two PKR-binding domains in chronic hepatitis C of genotype 3a and correlation with viral loads and interferon responsiveness. Journal of Medical Virology 83(10): 1727-1732

Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. British Journal of Dermatology 164(5): 1113-1116

Mutations in two independent pathways are sufficient to create hermaphroditic nematodes. Science 326(5955): 1002-1005

Mutations in two non-canonical Arabidopsis SWI2/SNF2 chromatin remodeling ATPases cause embryogenesis and stem cell maintenance defects. Plant Journal 72(6): 1000-1014

Mutations in two putative phosphorylation motifs in the tomato pollen receptor kinase LePRK2 show antagonistic effects on pollen tube length. Journal of Biological Chemistry 286(6): 4882-4891

Mutations in two zinc-cluster proteins activate alternative respiratory and gluconeogenic pathways and restore senescence in long-lived respiratory mutants of Podospora anserina. Genetics 182(1): 69-78

Mutations in vacuolar H+ -ATPase subunits lead to biliary developmental defects in zebrafish. Developmental Biology 365(2): 434-444

Mutations in various functional domains of HPV2 E2 protein inhibit the transcriptional depression activities. Zhonghua Shi Yan He Lin Chuang Bing du Xue Za Zhi 25(3): 164-166

Mutations in wild populations in Drosophila. Advances in Genetics 1: 359-402

Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning. Development 136(10): 1621-1631

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. Plos Genetics 7(2): E1001310-E1001310

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet Journal of Rare Diseases 9(): 80-80

Mutations in α- and β-tubulin encoding genes: implications in brain malformations. Brain & Development 37(3): 273-280

Mutations in β' subunit of Escherichia coli RNA polymerase perturb the activator polymerase functional interaction required for promoter clearance. Molecular Microbiology 80(5): 1169-1185

Mutations in γ adducin are associated with inherited cerebral palsy. Annals of Neurology 74(6): 805-814

Mutations in γ-aminobutyric acid (GABA) transaminase genes in plants or Pseudomonas syringae reduce bacterial virulence. Plant Journal 64(2): 318-330

Mutations inDNMT3A and loss of RKIP are independent events in acute monocytic leukemia. Haematologica 97(12): 1936-1937

Mutations induced by X-rays and some chemical reagents changing Drosophila melanogaster life span. Tsitologiia i Genetika 42(1): 37-44

Mutations induced by benzo[a]pyrene and dibenzo[a,l]pyrene in lacI transgenic B6C3F1 mouse lung result from stable DNA adducts. Mutagenesis 23(6): 445-450

Mutations induced by damaged DNA precursors and their prevention by nucleotide pool sanitization and DNA repair enzymes. Seikagaku. Journal of Japanese Biochemical Society 80(5): 413-416

Mutations inducing an active-site aperture in Rhizobium sp. sucrose isomerase confer hydrolytic activity. Acta Crystallographica. Section D, Biological Crystallography 69(Pt 2): 298-307

Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C. Biochemical Journal 416(2): 201-209

Mutations of 3c and spike protein genes correlate with the occurrence of feline infectious peritonitis. Veterinary Microbiology 173(3-4): 177-188

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Human Genetics 133(10): 1255-1271

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. Annals of Clinical and Laboratory Science 41(1): 84-88

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation 33(12): 1635-1638

Mutations of Asp540 and the domain-connecting residues synergistically enhance Pyrococcus furiosus DNA ligase activity. Febs Letters 588(2): 230-235

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia. Brazilian Journal of Medical and Biological Research 43(9): 910-913

Mutations of C-reactive protein (CRP) -286 SNP, APC and p53 in colorectal cancer: implication for a CRP-Wnt crosstalk. Plos One 9(7): E102418-E102418

Mutations of C16orf57 gene have been identified in the poikiloderma-neutropenia syndrome and in a specific subset of congenital dyskeratosis with normal-length telomeres. Annales de Dermatologie et de Venereologie 138(4): 362-363

Mutations of CARD11 but not TNFAIP3 may activate the NF-kappaB pathway in primary CNS lymphoma. Acta Neuropathologica 120(4): 529-535

Mutations of CD79A, CD79B and EZH2 genes in immunodeficiency-related non-Hodgkin lymphomas. British Journal of Haematology 152(6): 777-780

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. American Journal of Human Genetics 94(6): 905-914

Mutations of CXorf6 are associated with a range of severities of hypospadias. European Journal of Endocrinology 159(4): 453-458

Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants. Yi Chuan 31(7): 705-712

Mutations of Cx43 that affect B cell spreading in response to BCR signaling. Biology Open 3(3): 185-194

Mutations of DMYPT cause over constriction of contractile rings and ring canals during Drosophila germline cyst formation. Developmental Biology 346(2): 161-169

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Human Molecular Genetics 21(23): 5106-5117

Mutations of EGFR in lung cancers and their implications for targeted therapy. Discovery Medicine 4(24): 444-447

Mutations of EGFR or KRAS and expression of chemotherapy-related genes based on small biopsy samples in stage IIIB and IV inoperable non-small cell lung cancer. Journal of Cancer Research and Clinical Oncology 140(12): 2097-2105

Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. Genes, Chromosomes & Cancer 47(1): 26-33

Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. Blood Cells, Molecules & Diseases 49(1): 60-66

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. Journal of Medical Genetics 47(3): 190-194

Mutations of Francisella novicida that alter the mechanism of its phagocytosis by murine macrophages. Plos One 5(7): E11857-E11857

Mutations of GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 genes are not found in a 7-year-old Down syndrome patient with acute myeloid leukemia (FAB-M2) having a good prognosis. Cancer Genetics and Cytogenetics 180(1): 74-78

Mutations of GNAS and TSHR genes in subclinical toxic multinodular goiter. Annals of Otology, Rhinology, and Laryngology 119(2): 118-124

Mutations of Gln64 in the HIV-1 gp41 N-terminal heptad repeat render viruses resistant to peptide HIV fusion inhibitors targeting the gp41 pocket. Journal of Virology 86(1): 589-593

Mutations of HBV polymerase gene sequence in lamivudine-resistant chronic hepatitis B patients. Nan Fang Yi Ke Da Xue Xue Bao 28(5): 729-730

Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3. Proceedings of the National Academy of Sciences of the United States of America 104(51): 20386-20391

Mutations of Helicobacter pylori associated with fluoroquinolone resistance in Korea. Helicobacter 16(4): 301-310

Mutations of IDH1 and 2 genes: a molecular diagnosis of low-grade gliomas. Bulletin du Cancer 96(6): 641-642

Mutations of IDH1 and IDH2 are not detected in brain metastases of colorectal cancer. Journal of Neuro-Oncology 94(2): 297-297

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. Haematologica 95(3): 518-519

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 372(9648): 1484-1492

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. American Journal of Human Genetics 84(5): 651-657

Mutations of KRAS and BRAF in Chinese patients with colorectal carcinoma: analyses of 966 cases. Zhonghua Bing Li Xue Za Zhi 41(9): 579-583

Mutations of KRAS and BRAF in primary and matched metastatic sites of colorectal cancer. Journal of Clinical Oncology 26(25): 4217-4219

Mutations of KRAS and PIK3CA as independent predictors of distant metastases in colorectal cancer. Medical Oncology 31(7): 16-16

Mutations of KRAS and TP53 in a minor proportion of Opisthorchis viverrini-associated cholangiocarcinomas in a hamster model. Asian Pacific Journal of Cancer Prevention 9(1): 101-106

Mutations of LKB1 gene in pancreatic ductal adenocarcinomas induced by N-nitrosobis(2-oxopropyl)amine in hamsters. Anticancer Research 29(10): 4047-4050

Mutations of Lysine 47 in cyclodextrin glycosyltransferase from Paenibacillus macerans enhance beta-cyclodextrin specificity. Journal of Agricultural and Food Chemistry 57(18): 8386-8391

Mutations of NFKBIA in biopsy specimens from Hodgkin lymphoma. Cancer Genetics and Cytogenetics 197(2): 152-157

Mutations of NFKBIA, encoding IkappaB alpha, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated cases. International Journal of Cancer 125(6): 1334-1342

Mutations of NOTCH1, FBXW7, and prognosis in T-lineage acute lymphoblastic leukemia. Haematologica 94(10): 1338-1340

Mutations of NOTCH3 in childhood pulmonary arterial hypertension. Molecular Genetics & Genomic Medicine 2(3): 229-239

Mutations of NPM1 gene in de novo acute myeloid leukaemia: determination of incidence, distribution pattern and identification of two novel mutations in Indian population. Hematological Oncology 27(2): 90-97

Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma. Pediatric Blood & Cancer 58(6): 1006-1007

Mutations of PTEN gene in gliomas correlate to tumor differentiation and short-term survival rate. Anticancer Research 30(3): 981-985

Mutations of RAS gene family in specimens of bladder cancer. Urology Journal 5(4): 237-242

Mutations of SMAD4 account for both LAPS and Myhre syndromes. American Journal of Medical Genetics. Part A 158a(6): 1520-1521

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. Journal of Bone and Mineral Research 25(11): 2368-2373

Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest. Fertility and Sterility 88(4): 988-989

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India. Indian Journal of Medical Research 134(5): 621-626

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. Auris, Nasus, Larynx 41(5): 399-408

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain 135(Pt 1): E199; Author Reply E200-E199; Author Reply E200

Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese. Asian-Australasian Journal of Animal Sciences 27(6): 778-783

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Human Mutation 31(5): 505-520

Mutations of amino acids in the DNA-recognition domain of Epstein-Barr virus ZEBRA protein alter its sub-nuclear localization and affect formation of replication compartments. Virology 382(2): 145-162

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood 115(10): 1969-1975

Mutations of an NAD(P)H-dependent flavoprotein monooxygenase that influence cofactor promiscuity and enantioselectivity. Febs Open Bio 3: 473-478

Mutations of an alpha1,6 mannosyltransferase inhibit endoplasmic reticulum-associated degradation of defective brassinosteroid receptors in Arabidopsis. Plant Cell 21(12): 3792-3802

Mutations of an antibody binding energy hot spot on domain III of the dengue 2 envelope glycoprotein exploited for neutralization escape. Virology 407(2): 237-246

Mutations of an arylalkylamine-N-acetyltransferase, Bm-iAANAT, are responsible for silkworm melanism mutant. Journal of Biological Chemistry 285(25): 19553-19560

Mutations of beta-arrestin 2 that limit self-association also interfere with interactions with the beta2-adrenoceptor and the ERK1/2 MAPKs: implications for beta2-adrenoceptor signalling via the ERK1/2 MAPKs. Biochemical Journal 413(1): 51-60

Mutations of cellulose synthase (CESA1) phosphorylation sites modulate anisotropic cell expansion and bidirectional mobility of cellulose synthase. Proceedings of the National Academy of Sciences of the United States of America 107(40): 17188-17193

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. Clinical Genetics 86(5): 502-503

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochimica et Biophysica Acta 1842(2): 269-274

Mutations of cytosolic loop residues impair assembly and maturation of alpha7 nicotinic acetylcholine receptors. Journal of Neurochemistry 110(6): 1885-1894

Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation. Plos Computational Biology 4(2): E1000015-E1000015

Mutations of drug target molecules in Pneumocystis jirovecii isolates and future investigations. Nihon Ishinkin Gakkai Zasshi 50(2): 67-73

Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. Journal of Clinical Oncology 27(36): 6109-6116

Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome. Journal of Biological Chemistry 284(23): 15650-8

Mutations of ferric uptake regulator (fur) impair iron homeostasis, growth, oxidative stress survival, and virulence of Xanthomonas campestris pv. campestris. Archives of Microbiology 192(5): 331-339

Mutations of fibroblast growth factor receptor 3 gene (FGFR3) in transitional cell carcinoma of urinary bladder in Thai patients [Revision-2a. Journal of the Medical Association of Thailand 96(8): 976-983

Mutations of flagellar genes fliC12, fliA and flhDC of Edwardsiella tarda attenuated bacterial motility, biofilm formation and virulence to fish. Journal of Applied Microbiology 116(2): 236-244

Mutations of human DNA topoisomerase I at poly(ADP-ribose) binding sites: modulation of camptothecin activity by ADP-ribose polymers. Journal of Experimental & Clinical Cancer Research 33(): 71-71

Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization. Archives of Biochemistry and Biophysics 513(1): 42-50

Mutations of isocitrate dehydrogenase 1 and 2 in intrahepatic cholangiocarcinoma. Current Opinion in Gastroenterology 30(3): 295-302

Mutations of key hydrophobic surface residues of 11 beta-hydroxysteroid dehydrogenase type 1 increase solubility and monodispersity in a bacterial expression system. Protein Science 18(7): 1552-1563

Mutations of lysophosphatidic acid receptor genes in human osteosarcoma cells. Pathobiology 77(5): 278-282

Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. Clinical Endocrinology 70(6): 847-853

Mutations of microsatellite autosomal loci in paternity investigations of the Southern Poland population. Forensic Science International. Genetics 7(3): 389-391

Mutations of mitochondrial DNA - cause or consequence of the ageing process?. Zeitschrift für Gerontologie und Geriatrie 40(5): 325-333

Mutations of mitochondrial DNA as potential biomarkers in breast cancer. Anticancer Research 31(12): 4267-4271

Mutations of mitochondrial DNA in atherosclerosis and atherosclerosis-related diseases. Current Pharmaceutical Design 21(9): 1158-1163

Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease. Postepy Higieny i Medycyny Doswiadczalnej 66: 359-371

Mutations of nonconserved residues within the calcium channel alpha1-interaction domain inhibit beta-subunit potentiation. Journal of General Physiology 132(3): 383-395

Mutations of novel influenza A(H10N8) virus in chicken eggs and MDCK cells. Emerging Infectious Diseases 20(9): 1541-1543

Mutations of p53 and K-ras correlate TF expression in human colorectal carcinomas: TF downregulation as a marker of poor prognosis. International Journal of Colorectal Disease 26(5): 593-601

Mutations of p53 gene in 41 cases of human brain gliomas. Ai Zheng 27(1): 8-11

Mutations of p53 gene in hepatocellular-carcinoma (hcc) correlate with tumor progression and patient prognosis - a study of 138 patients with unifocal hcc. International Journal of Oncology 4(6): 1341-1347

Mutations of perforin gene in Chinese patients with acute lymphoblastic leukemia. Leukemia Research 35(2): 196-199

Mutations of photosystem II D1 protein that empower efficient phenotypes of Chlamydomonas reinhardtii under extreme environment in space. Plos One 8(5): E64352-E64352

Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. American Journal of Cardiology 103(10): 1439-1444

Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. British Journal of Haematology 145(6): 788-800

Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan. Movement Disorders 28(10): 1459-1460

Mutations of ras genes in human tumors (review). International Journal of Oncology 7(3): 413-421

Mutations of rat surfactant protein A have distinct effects on its glycosylation, secretion, aggregation and degradation. Life Sciences 117(2): 47-55

Mutations of residues 249 and 256 in VP2 are involved in the replication and virulence of infectious Bursal disease virus. Plos One 8(7): E70982-E70982

Mutations of short tandem repeat loci in Identifiler system. Fa Yi Xue Za Zhi 23(4): 290-1, 294

Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. Cellular and Molecular Neurobiology 28(5): 653-661

Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation. Hormone Research in Paediatrics 77(5): 291-297

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. Archives of Neurology 65(10): 1333-1336

Mutations of the BRAF gene in human cancer, by Davies et al. (Nature 2002; 417: 949-54). Clinical and Experimental Dermatology 38(2): 222-223

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. Journal of Medical Genetics 44(9): 588-593

Mutations of the CYP1B1 gene in congenital anterior staphylomas. Clinical Ophthalmology 8(): 445-448

Mutations of the Ca2+-sensing stromal interaction molecule STIM1 regulate Ca2+ influx by altered oligomerization of STIM1 and by destabilization of the Ca2+ channel Orai1. Journal of Biological Chemistry 288(3): 1653-1664

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss. Molecular Medicine Reports 4(2): 331-335

Mutations of the Drosophila myosin regulatory light chain affect courtship song and reduce reproductive success. Plos One 9(2): E90077-E90077

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Molecular Genetics and Metabolism 93(4): 371-380

Mutations of the EGFR and K-ras genes in resected stage I lung adenocarcinoma and their clinical significance. Surgery Today 44(3): 478-486

Mutations of the EPHB6 receptor tyrosine kinase induce a pro-metastatic phenotype in non-small cell lung cancer. Plos One 7(12): E44591-E44591

Mutations of the ER to plastid lipid transporters TGD1, 2, 3 and 4 and the ER oleate desaturase FAD2 suppress the low temperature-induced phenotype of Arabidopsis tocopherol-deficient mutant vte2. Plant Journal 62(6): 1004-1018

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. American Journal of Human Genetics 85(3): 338-353

Mutations of the GABA-A receptor alpha1 subunit M1 domain reveal unexpected complexity for modulation by neuroactive steroids. Molecular Pharmacology 74(3): 614-627

Mutations of the GATA2 and CEBPA genes in paediatric acute myeloid leukaemia. British Journal of Haematology 164(1): 142-145

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 138(11-12): 1231-1240

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. Stroke 41(3): 431-436

Mutations of the Huntington's disease protein impact on the ATM-dependent signaling and repair pathways of the radiation-induced DNA double-strand breaks: corrective effect of statins and bisphosphonates. Molecular Neurobiology 49(3): 1200-1211

Mutations of the Igbeta gene cause agammaglobulinemia in man. Journal of Experimental Medicine 204(9): 2047-2051

Mutations of the KISS1 gene in disorders of puberty. Journal of Clinical Endocrinology and Metabolism 95(5): 2276-2280

Mutations of the KRAS oncogene in endometrial hyperplasia and carcinoma. Folia Histochemica et Cytobiologica 47(1): 65-68

Mutations of the Listeria monocytogenes peptidoglycan N-deacetylase and O-acetylase result in enhanced lysozyme sensitivity, bacteriolysis, and hyperinduction of innate immune pathways. Infection and Immunity 79(9): 3596-3606

Mutations of the MYH gene do not substantially contribute to the risk of breast cancer. Breast Cancer Research and Treatment 114(3): 575-578

Mutations of the PIK3CA gene in diffuse large B cell lymphoma. Diagnostic Molecular Pathology 17(3): 159-165

Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation. International Journal of Molecular Medicine 32(1): 144-150

Mutations of the SH3BP2 gene in 2 families of cherubism. Pediatric Dentistry 34(3): 198-202

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. Sexual Development 4(6): 321-325