WFS1
WFS1 (Wolframin ER transmembrane glycoprotein) هوَ بروتين يُشَفر بواسطة جين WFS1 في الإنسان.[1][2][3]
المراجع
- "Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4"، Nat Genet، 8 (1): 95–7، يناير 1995، doi:10.1038/ng0994-95، PMID 7987399.
- "Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)"، مؤرشف من الأصل في 05 ديسمبر 2010.
- "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)"، Nat Genet، 20 (2): 143–8، أكتوبر 1998، doi:10.1038/2441، PMID 9771706.
قراءة متعمقة
- "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases."، Hum. Mutat.، 17 (5): 357–67، 2001، doi:10.1002/humu.1110، PMID 11317350.
- "Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease."، Hum. Mutat.، 22 (4): 275–87، 2004، doi:10.1002/humu.10258، PMID 12955714.
- "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum."، The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology، 288 (4): 370–81، 2006، doi:10.1002/ar.a.20297، PMID 16550584.
- "A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3."، Hum. Mol. Genet.، 4 (10): 1967–72، 1996، doi:10.1093/hmg/4.10.1967، PMID 8595423.
- "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein."، Hum. Mol. Genet.، 7 (13): 2021–8، 1999، doi:10.1093/hmg/7.13.2021، PMID 9817917.
- "A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus."، J. Med. Genet.، 36 (7): 532–6، 1999، doi:10.1136/jmg.36.7.532، PMC 1734405، PMID 10424813.
- "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1."، Am. J. Hum. Genet.، 65 (5): 1279–90، 1999، doi:10.1086/302609، PMC 1288280، PMID 10521293.
- "A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases."، Neurosci. Lett.، 277 (2): 123–6، 2000، doi:10.1016/S0304-3940(99)00865-4، PMID 10624825.
- "Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis."، Biochem. Biophys. Res. Commun.، 268 (2): 612–6، 2000، doi:10.1006/bbrc.2000.2169، PMID 10679252.
- "WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder."، Journal of Affective Disorders، 58 (1): 11–7، 2000، doi:10.1016/S0165-0327(99)00099-3، PMID 10760554.
- "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees."، Mol. Genet. Metab.، 72 (1): 72–81، 2001، doi:10.1006/mgme.2000.3107، PMID 11161832.
- "Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene."، Endocrinology، 142 (3): 1041–9، 2001، doi:10.1210/en.142.3.1041، PMID 11181517.
- "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain."، Hum. Mol. Genet.، 10 (5): 477–84، 2001، doi:10.1093/hmg/10.5.477، PMID 11181571.
- "Identification of novel WFS1 mutations in Italian children with Wolfram syndrome."، Hum. Mutat.، 17 (4): 348–9، 2001، doi:10.1002/humu.32، PMID 11295831.
- "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss."، Hum. Mol. Genet.، 10 (22): 2501–8، 2002، doi:10.1093/hmg/10.22.2501، PMID 11709537.
- "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1."، Hum. Mol. Genet.، 10 (22): 2509–14، 2002، doi:10.1093/hmg/10.22.2509، PMID 11709538.
- "Is there a relationship between Wolfram syndrome carrier status and suicide?"، Am. J. Med. Genet.، 114 (3): 343–6، 2002، doi:10.1002/ajmg.10256، PMID 11920861.
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