WFS1
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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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): NM_001145853  
| ع ن جينات الكروموسوم 4 | ع ن جينات الكروموسوم 4 |
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جينات الكروموسوم 4:  CSN2  NKX3-2  ZFYVE28  TLR10  TBC1D9  MOBKL1A  CENTD1  STATH  LDB2  RASL11B  MEPE  OTUD4  YTHDC1  DCUN1D4  TNIP2  MRPL1  KCTD8  PDS5A  RBM47  SLC9B2  COPS4  GYPE  PGDS  IRF2  UTP3  ING2  DCHS2  HMGB2  NEIL3  WDFY3  CENPC1  SFRP2  EMCN  HAUS3  ANKRD17  SEC24D  أميلوبلاستين  TMPRSS11B  WDR1  USO1  SMARCAD1  ARFIP1  TMPRSS11F  PSAPL1  METTL14  SLIT2  CLDN22  INTS12  ENAM  FAT4  H2AFZ  CYP4V2  ANTXR2  HSPA4L  PGRMC2  POU4F2  LGI2  BBS12  STAP1  LYAR  TLR6  APBB2  LETM1  CC2D2A  PABPC4L  INPP4B  MAB21L2  WFS1  NCAPG  MMAA  CRMP1  DMP1  سينابتوبودين 2  CEP135  S100P  MFSD8  SEC31A  SHROOM3  AFAP1  FBXW7  TLL1  FABP2  Epiregulin  ADD1  CXCL13  LRIT3  LCORL  SMIM20  NUDT6  CXCL10  CCNG2  UBE1L2  GPM6A  KIAA1530  SPRY1  LSM6  FAM198B  MRFAP1  DAPP1  LIMCH1  FGFBP1  ZNF330  SEPT11  SPINK2  NKX6-1  LRBA  HOPX  DKK2  PPP3CA  CLCN3  SMARCA5  DUX4  CSN1S1  MLF1IP  FBXL5  PCDH10  AP1AR  SDAD1  THAP6  HNRPDL  KCNIP4  HGFAC  ATOH1  PCDH18  SGCB  SPATA5  PLRG1  CYTL1  MXD4  RAB33B  FAM47E-STBD1  UNC5C  RCHY1  GUF1  TBC1D1  RGS12  HIP2  PHOX2B  PCDH7  NOA1  EXOC1  ELF2  Nephronectin  MSMO1  BBS7  Calmegin  HHIP  TACC3  MFSD7  GRXCR1  Afamin  MIR1269A  Neurogenin-2  CISD2 
بوابة الكيمياء الحيوية
بوابة طب
بوابة علم الأحياء الخلوي والجزيئي
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 606201  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000683395  نظام اللغة الطبية الموحدة (UMLS CUI): C1421501