WFS1
WFS1 (Wolframin ER transmembrane glycoprotein) هوَ بروتين يُشَفر بواسطة جين WFS1 في الإنسان.[1][2][3]
الوظيفة
المراجع
- Polymeropoulos MH، Swift RG، Swift M (يناير 1995). "Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4". Nat Genet. ج. 8 ع. 1: 95–7. DOI:10.1038/ng0994-95. PMID:7987399.
- "Entrez Gene: WFS1 Wolfram syndrome 1 (wolframin)". مؤرشف من الأصل في 2010-12-05.
- Inoue H، Tanizawa Y، Wasson J، Behn P، Kalidas K، Bernal-Mizrachi E، Mueckler M، Marshall H، Donis-Keller H، Crock P، Rogers D، Mikuni M، Kumashiro H، Higashi K، Sobue G، Oka Y، Permutt MA (أكتوبر 1998). "A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)". Nat Genet. ج. 20 ع. 2: 143–8. DOI:10.1038/2441. PMID:9771706.
قراءة متعمقة
- Khanim F، Kirk J، Latif F، Barrett TG (2001). "WFS1/wolframin mutations, Wolfram syndrome, and associated diseases". Hum. Mutat. ج. 17 ع. 5: 357–67. DOI:10.1002/humu.1110. PMID:11317350.
- Cryns K، Sivakumaran TA، Van den Ouweland JM، وآخرون (2004). "Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease". Hum. Mutat. ج. 22 ع. 4: 275–87. DOI:10.1002/humu.10258. PMID:12955714.
- McHugh RK، Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology. ج. 288 ع. 4: 370–81. DOI:10.1002/ar.a.20297. PMID:16550584.
- Lesperance MM، Hall JW، Bess FH، وآخرون (1996). "A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3". Hum. Mol. Genet. ج. 4 ع. 10: 1967–72. DOI:10.1093/hmg/4.10.1967. PMID:8595423.
- Strom TM، Hörtnagel K، Hofmann S، وآخرون (1999). "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. ج. 7 ع. 13: 2021–8. DOI:10.1093/hmg/7.13.2021. PMID:9817917.
- Van Camp G، Kunst H، Flothmann K، وآخرون (1999). "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. ج. 36 ع. 7: 532–6. DOI:10.1136/jmg.36.7.532. PMC:1734405. PMID:10424813.
- Hardy C، Khanim F، Torres R، وآخرون (1999). "Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1". Am. J. Hum. Genet. ج. 65 ع. 5: 1279–90. DOI:10.1086/302609. PMC:1288280. PMID:10521293.
- Furlong RA، Ho LW، Rubinsztein JS، وآخرون (2000). "A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases". Neurosci. Lett. ج. 277 ع. 2: 123–6. DOI:10.1016/S0304-3940(99)00865-4. PMID:10624825.
- Awata T، Inoue K، Kurihara S، وآخرون (2000). "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. ج. 268 ع. 2: 612–6. DOI:10.1006/bbrc.2000.2169. PMID:10679252.
- Ohtsuki T، Ishiguro H، Yoshikawa T، Arinami T (2000). "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. ج. 58 ع. 1: 11–7. DOI:10.1016/S0165-0327(99)00099-3. PMID:10760554.
- Gómez-Zaera M، Strom TM، Rodríguez B، وآخرون (2001). "Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees". Mol. Genet. Metab. ج. 72 ع. 1: 72–81. DOI:10.1006/mgme.2000.3107. PMID:11161832.
- Kaytor EN، Zhu JL، Pao CI، Phillips LS (2001). "Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene". Endocrinology. ج. 142 ع. 3: 1041–9. DOI:10.1210/en.142.3.1041. PMID:11181517.
- Takeda K، Inoue H، Tanizawa Y، وآخرون (2001). "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain". Hum. Mol. Genet. ج. 10 ع. 5: 477–84. DOI:10.1093/hmg/10.5.477. PMID:11181571.
- Tessa A، Carbone I، Matteoli MC، وآخرون (2001). "Identification of novel WFS1 mutations in Italian children with Wolfram syndrome". Hum. Mutat. ج. 17 ع. 4: 348–9. DOI:10.1002/humu.32. PMID:11295831.
- Bespalova IN، Van Camp G، Bom SJ، وآخرون (2002). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss". Hum. Mol. Genet. ج. 10 ع. 22: 2501–8. DOI:10.1093/hmg/10.22.2501. PMID:11709537.
- Young TL، Ives E، Lynch E، وآخرون (2002). "Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1". Hum. Mol. Genet. ج. 10 ع. 22: 2509–14. DOI:10.1093/hmg/10.22.2509. PMID:11709538.
- Crawford J، Zielinski MA، Fisher LJ، وآخرون (2002). "Is there a relationship between Wolfram syndrome carrier status and suicide?". Am. J. Med. Genet. ج. 114 ع. 3: 343–6. DOI:10.1002/ajmg.10256. PMID:11920861.
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