+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene

, : Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene. Genomics 17(2): 525-526

NM23 is a candidate tumor suppressor protein and has recently been identified as an NDP kinase. The expression of NM23 is inversely related to the metastatic potential of tumor cells. Two NM23 genes, NME1 and NME2, that code for the A and B chains of the kinase, respectively, have been cloned. To determine the human chromosomal location of the NME2 gene, we have analyzed DNA from rodent-human cell lines and hybrid cell lines containing portions of chromosome 17 by a combination of PCR amplification and Southern hybridization. The NME2 gene was mapped to the chromosome region 17q21-q22, the same region in which the NME1 gene has been localized. This region is linked to the early onset breast/ovarian locus (BRCA1) and allelic deletions of NME1 have been associated with metastatic potential of colorectal carcinomas.


PMID: 8406510

DOI: 10.1006/geno.1993.1363

Other references

Anonymous, 2011: 13C Solid state NMR study of the 13C-labeled peptide, E8GGLGGQGAGA6GGAGQGGYGG as a model for the local structure of Nephila clavipes dragline silk MaSp1 before and after spinning. We prepared the water soluble model peptide, (E)8GGLGGQGAG(A)6GGAGQGGYGG, to throw light on the local structure of spidroin 1 (MaSpl) protein in spider dragline silk of Nephila clavipes before and after spinning. Solution 13C NMR showed that the c...

Kobayashi, M.; Imai, K.; Nakai, K.; Kumasaki, F.; Suzuki, T.; Ito, Y.; Yamanaka, H.; Sugihara, S., 1986: Chemotherapy of renal cell carcinoma 2. combination of chemotherapy using nimustine and vinblastine. Nineteen patients with renal cell carcinoma who had undergone radical nephrectomy have been treated with a combination of chemotherapy and partly hormonal therapy using ACNU, vinblastine and chlormadinone acetate. The efficacy of the combination t...

Gakidou, E.; Lozano, R.; González-Pier, E.; Abbott-Klafter, J.; Barofsky, J.T.; Bryson-Cahn, C.; Feehan, D.M.; Lee, D.K.; Hernández-Llamas, Héctor.; Murray, C.J.L., 2007: Assessing the effect of the 2001-06 Mexican health reform: an interim report card. Since 2001, Mexico has been designing, legislating, and implementing a major health-system reform. A key component was the creation of Seguro Popular, which is intended to expand insurance coverage over seven years to uninsured people, nearly half...

Yokoyama, T.; Nozaki, K.; Nose, H.; Inoue, M.; Nishiyama, Y.; Kumon, H., 2005: Tolerability and morbidity of urodynamic testing: a questionnaire-based study. Objectives. To determine the tolerability and morbidity rate of multichannel urodynamics (UDS).Methods. A total of 154 consecutive patients were included in the present study; 87 men and 67 women underwent UDS and completed a questionnaire. All pa...

Fox, J., 2015: The Contribution of Experiential Wisdom to the Development of the Mental Health Professional Discourse. Schizophrenia Bulletin: -

Calhoun, D.A.; Christensen, R.D., 1998: Recent advances in the pathogenesis and treatment of nonimmune neutropenias in the neonate. Neutropenia in the neonate is defined as a significantly lower than normal concentration of neutrophils in the peripheral blood and can be broadly classified as immune or nonimmune. Nonimmune neutropenias are those that are not the direct or indir...

Bergmann U.; Wittmann Liebold B., 1990: Purification of ribosomal proteins from the extreme halophilic archaebacterium halobacterium marismortui by high performance liquid chromatography. High performance liquid chromatography was used for the purification of ribosomal proteins derived from the halophilic archaebacterium Halobacterium marismortui. Separation was performed using size exclusion chromatography, reversed phase and ion-...

Dea, S.; Roy, R.S.; Elazhary, M.A., 1981: Calf coronavirus neonatal diarrhea. A literature review. Calf coronavirus neonatal diarrhea. A literature reviewThe importance of the calf coronavirus in the etiology of neonatal diarrhea of calves has been reported many times from various countries. A literature review concerning this virus is presente...

Huang, X.L.; Catignani, G.L.; Swaisgood, H.E., 1996: Improved emulsifying properties of b-barrel domain peptides obtained by membrane-fractionation of a limited tryptic hydrolysate of b-lactoglobulin. Journal of Agricultural and Food Chemistry 44: 37-43

H.C., 1975: Congress strengthens freedom of information act. Science 187(4173): 242-242