WFS1

Summary

Gene Symbol: WFS1
Description: wolframin ER transmembrane glycoprotein
Alias: CTRCT41, WFRS, WFS, WFSL, wolframin, Wolfram syndrome 1 (wolframin)
Species: human
Products:     WFS1

Top Publications

  1. Ueda K, Kawano J, Takeda K, Yujiri T, Tanabe K, Anno T, et al. Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur J Endocrinol. 2005;153:167-76 pubmed
    The WFS1 gene encodes an endoplasmic reticulum (ER) membrane-embedded protein. Homozygous WFS1 gene mutations cause Wolfram syndrome, characterized by insulin-deficient diabetes mellitus and optic atropy...
  2. Osman A, Saito M, Makepeace C, Permutt M, Schlesinger P, Mueckler M. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem. 2003;278:52755-62 pubmed
    ..Little is known concerning the function of the WFS1 protein (wolframin)...
  3. Colosimo A, Guida V, Rigoli L, di Bella C, De Luca A, Briuglia S, et al. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat. 2003;21:622-9 pubmed
    ..The causative gene for WS (WFS1) encoding wolframin maps to chromosome 4p16.1 and consists of eight exons, spanning 33.44 Kb of genomic DNA...
  4. Philbrook C, Fritz E, Weiher H. Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp Gerontol. 2005;40:671-8 pubmed
    ..Diabetes mellitus is its lead symptom. Patients show mutations in the wolframin (WFS1) gene coding for a hydrophobic transmembrane protein of 890 amino acids...
  5. Wasson J, Permutt M. Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes. Diabetologia. 2008;51:391-3 pubmed publisher
  6. Inukai K, Awata T, Inoue K, Kurihara S, Nakashima Y, Watanabe M, et al. Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Diabetes Res Clin Pract. 2005;69:136-41 pubmed
    ..Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS...
  7. Florez J, Jablonski K, McAteer J, Sandhu M, Wareham N, Barroso I, et al. Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Diabetologia. 2008;51:451-7 pubmed
    Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is caused by mutations in the WFS1 gene. Recently, single nucleotide polymorphisms (SNPs) in WFS1 have been reproducibly associated with type 2 diabetes...
  8. Takei D, Ishihara H, Yamaguchi S, Yamada T, Tamura A, Katagiri H, et al. WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett. 2006;580:5635-40 pubmed
    The WFS1 gene, encoding an endoplasmic reticulum (ER) membrane glycoprotein, is mutated in Wolfram syndrome characterized by diabetes mellitus and optic atrophy...
  9. Smith C, Crock P, King B, Meldrum C, Scott R. Phenotype-genotype correlations in a series of wolfram syndrome families. Diabetes Care. 2004;27:2003-9 pubmed
    ..The WFS1 gene encodes a novel transmembrane protein called wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic beta-..

More Information

Publications70

  1. Kawamoto T, Horikawa Y, Tanaka T, Kabe N, Takeda J, Mikuni M. Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder. Mol Genet Metab. 2004;82:238-45 pubmed
    Diabetic and psychiatric symptoms often appear in patients with Wolfram syndrome, and obligate carriers of WFS1 have increased prevalence of type 2 diabetes and are more likely to require hospitalization for psychiatric illness including ..
  2. Hildebrand M, Sorensen J, Jensen M, Kimberling W, Smith R. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. Am J Med Genet A. 2008;146A:2258-65 pubmed publisher
    ..of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attributable to mutations in the wolframin syndrome 1 (WFS1) gene at the DFNA6/14/38 locus...
  3. van Hoek M, Dehghan A, Witteman J, van Duijn C, Uitterlinden A, Oostra B, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008;57:3122-8 pubmed publisher
    ..Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, JAZF1, SLC30A8, TCF7L2, and WFS1 variants were associated with type 2 diabetes risk in our population. The AUC was 0.60 (95% CI 0.57-0...
  4. Zalloua P, Azar S, Delepine M, Makhoul N, Blanc H, Sanyoura M, et al. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Hum Mol Genet. 2008;17:4012-21 pubmed publisher
    ..evidence for a high prevalence of Wolfram syndrome (WFS) in Lebanon, the phenotypic variability associated with WFS1 mutations, and the high consanguinity rate in Lebanon, we aimed to evaluate the contribution of WFS1 mutations as ..
  5. Young T, Ives E, Lynch E, Person R, Snook S, MacLaren L, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet. 2001;10:2509-14 pubmed
    Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome...
  6. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008;359:2220-32 pubmed publisher
    ..Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes ..
  7. Schafer S, Müssig K, Staiger H, Machicao F, Stefan N, Gallwitz B, et al. A common genetic variant in WFS1 determines impaired glucagon-like peptide-1-induced insulin secretion. Diabetologia. 2009;52:1075-82 pubmed publisher
    b>WFS1 type 2 diabetes risk variants appear to be associated with impaired beta cell function, although it is unclear whether insulin secretion is affected directly or secondarily via alteration of insulin sensitivity...
  8. Tessa A, Carbone I, Matteoli M, Bruno C, Patrono C, Patera I, et al. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat. 2001;17:348-9 pubmed
    Six unrelated Italian children with Wolfram syndrome (WS) were analyzed for mutations in the WFS1. Four novel mutations (1387delCTCT, S443I, 1519del16, and IVS6+16g->a) were identified...
  9. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes. 2009;58:2129-36 pubmed publisher
    ..and genotyping of SNPs in or near PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, LOC387761, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, NOTCH2, KCNQ1, and MTNR1B were performed...
  10. Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE. 2009;4:e7643 pubmed publisher
    ..114 to 1.406 (P value range from 0.0335 to 1.37E-12). But no significant association was detected between SNPs from WFS1, FTO, JAZF1, TSPAN8-LGR5, THADA, ADAMTS9, NOTCH2-ADAM30 and type 2 diabetes...
  11. Fonseca S, Ishigaki S, Oslowski C, Lu S, Lipson K, Ghosh R, et al. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest. 2010;120:744-55 pubmed publisher
    ..We have previously shown that mutations in the Wolfram syndrome 1 (WFS1) gene cause Wolfram syndrome and that WFS1 has a protective function against ER stress...
  12. Cheurfa N, Brenner G, Reis A, Dubois Laforgue D, Roussel R, Tichet J, et al. Decreased insulin secretion and increased risk of type 2 diabetes associated with allelic variations of the WFS1 gene: the Data from Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study. Diabetologia. 2011;54:554-62 pubmed publisher
    We investigated associations of allelic variations in the WFS1 gene with insulin secretion and risk of type 2 diabetes in a general population prospective study...
  13. Hardy C, Khanim F, Torres R, Scott Brown M, Seller A, Poulton J, et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet. 1999;65:1279-90 pubmed
    ..mtDNA deletions have been described, and a gene (WFS1) recently has been identified, on chromosome 4p16, encoding a predicted 890 amino acid transmembrane protein...
  14. Strom T, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, et al. 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. 1998;7:2021-8 pubmed
    ..One of these genes, subsequently named wolframin, codes for a predicted transmembrane protein which was expressed in various tissues, including brain and ..
  15. Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A. 2007;143A:1605-12 pubmed
    Mutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy...
  16. Franks P, Rolandsson O, Debenham S, Fawcett K, Payne F, Dina C, et al. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia. 2008;51:458-63 pubmed
    Mutations at the gene encoding wolframin (WFS1) cause Wolfram syndrome, a rare neurological condition. Associations between single nucleotide polymorphisms (SNPs) at WFS1 and type 2 diabetes have recently been reported...
  17. Zenteno J, Ruiz G, Perez Cano H, Camargo M. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations. Mol Vis. 2008;14:1353-7 pubmed
    ..included linkage analysis using microsatellites markers located on the markers located on the Wofram syndrome 1 (WFS1) region at 4p16...
  18. Valero R, Bannwarth S, Roman S, Paquis Flucklinger V, Vialettes B. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Diabet Med. 2008;25:657-61 pubmed publisher
    Mutations of the WFS1 gene have been implicated in autosomal dominant diseases, such as low-frequency sensorineural hearing impairment (LFSNHI) and/or diabetes mellitus and/or optic atrophy...
  19. D Annunzio G, Minuto N, D Amato E, De Toni T, Lombardo F, Pasquali L, et al. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. Diabetes Care. 2008;31:1743-5 pubmed publisher
    ..The WFS1 gene is located on the short arm of chromosome 4...
  20. Sparsø T, Andersen G, Albrechtsen A, Jørgensen T, Borch Johnsen K, Sandbaek A, et al. Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation. Diabetologia. 2008;51:1646-52 pubmed publisher
    Recently, variants in WFS1 have been shown to be associated with type 2 diabetes. We aimed to examine metabolic risk phenotypes of WFS1 variants in glucose-tolerant people and in individuals with abnormal glucose regulation...
  21. Lango H, Palmer C, Morris A, Zeggini E, Hattersley A, McCarthy M, et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008;57:3129-35 pubmed publisher
    ..Further studies are needed to assess whether individuals with extreme numbers of risk alleles may benefit from genetic testing. ..
  22. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal Mizrachi E, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998;20:143-8 pubmed
    ..Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these ..
  23. Johansson S, Irgens H, Chudasama K, Molnes J, Aerts J, Roque F, et al. Exome sequencing and genetic testing for MODY. PLoS ONE. 2012;7:e38050 pubmed publisher
    ..Novel variants in the genes ARAP1, GLIS3, MADD, NOTCH2 and WFS1 need further investigation to reveal their possible role in diabetes...
  24. Sandhu M, Weedon M, Fawcett K, Wasson J, Debenham S, Daly A, et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007;39:951-3 pubmed
    We studied genes involved in pancreatic beta cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies...
  25. Minton J, Hattersley A, Owen K, McCarthy M, Walker M, Latif F, et al. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes. 2002;51:1287-90 pubmed
    Mutations in the WFS1 gene cause beta-cell death, resulting in a monogenic form of diabetes known as Wolfram syndrome. The role of variation in WFS1 in type 2 diabetes susceptibility is not known...
  26. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet. 2001;10:477-84 pubmed
    ..Recent positional cloning led to identification of the WFS1 (Wolfram syndrome 1) gene, a member of a novel gene family of unknown function...
  27. Hofmann S, Philbrook C, Gerbitz K, Bauer M. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet. 2003;12:2003-12 pubmed
    ..The WFS1 gene encodes wolframin, a putative multispanning membrane glycoprotein of the endoplasmic reticulum...
  28. Cryns K, Sivakumaran T, van den Ouweland J, Pennings R, Cremers C, Flothmann K, et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat. 2003;22:275-87 pubmed
    WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum...
  29. Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, et al. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat. 2005;25:99-100 pubmed
    ..syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene...
  30. Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Daniels R, et al. Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. J Mol Med (Berl). 2005;83:553-60 pubmed
    ..Mutations in one single gene, Wolfram syndrome 1 (WFS1), have been reported to account for most familial cases with this type of hearing impairment...
  31. Toth T, Pfister M, Zenner H, Sziklai I. Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. Int J Pediatr Otorhinolaryngol. 2006;70:201-6 pubmed
    ..The DFNA6 locus was previously mapped to chromosome 4p16.3. It was showed that WFS1 is located in this region...
  32. Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, et al. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet. 2005;13:1275-84 pubmed
    ..syndrome (WS) is a neuro-degenerative autosomal recessive (AR) disorder (OMIM #222300) caused by mutations in the WFS1 gene on 4p16.1...
  33. Awata T, Inoue K, Kurihara S, Ohkubo T, Inoue I, Abe T, et al. 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. 2000;268:612-6 pubmed
    Recently, a novel gene for a putative transmembrane protein (WFS1/wolframin) was found to be mutated in patients with Wolfram syndrome or DI-DM-OA-D (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome...
  34. Lesperance M, Hall J, Bess F, Fukushima K, Jain P, Ploplis B, et al. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet. 1995;4:1967-72 pubmed
    ..Further studies with the goals of cloning a gene for autosomal nonsyndromic hearing impairment and identifying the murine homologue may explain the role of this gene in the development and function of the cochlea. ..
  35. Fukuoka H, Kanda Y, Ohta S, Usami S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet. 2007;52:510-5 pubmed
    Mutations in WFS1 are reported to be responsible for two conditions with distinct phenotypes; DFNA6/14/38 and autosomal recessive Wolfram syndrome...
  36. Gomez Zaera M, Strom T, Rodriguez B, Estivill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab. 2001;72:72-81 pubmed
    ..A gene responsible for Wolfram Syndrome (WFS1) has been recently identified on chromosome 4p16.1...
  37. Gharanei S, Zatyka M, Astuti D, Fenton J, Sik A, Nagy Z, et al. Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. Hum Mol Genet. 2013;22:203-17 pubmed publisher
    ..The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER)-resident transmembrane protein that also localizes to secretory granules in ..
  38. Zatyka M, Ricketts C, Da Silva Xavier G, Minton J, Fenton S, Hofmann Thiel S, et al. Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum Mol Genet. 2008;17:190-200 pubmed
    ..optic atrophy, is caused by mutations in the WFS1 gene encoding an endoplasmic reticulum (ER) membrane protein, Wolframin. Although its precise functions are unknown, Wolframin deficiency increases ER stress, impairs cell cycle ..
  39. Cornelis M, Qi L, Zhang C, Kraft P, Manson J, Cai T, et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009;150:541-50 pubmed
    ..National Institutes of Health. ..
  40. Khanim F, Kirk J, Latif F, Barrett T. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat. 2001;17:357-67 pubmed
    ..A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance...
  41. Bespalova I, Van Camp G, Bom S, Brown D, Cryns K, DeWan A, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001;10:2501-8 pubmed
    ..The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syndrome, an autosomal recessive disorder characterized by diabetes mellitus and ..
  42. Fonseca S, Fukuma M, Lipson K, Nguyen L, Allen J, Oka Y, et al. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem. 2005;280:39609-15 pubmed
    ..Although it has been reported that mutations in the WFS1 gene are responsible for the development of this syndrome, the precise molecular mechanisms underlying beta-cell ..
  43. Herder C, Rathmann W, Strassburger K, Finner H, Grallert H, Huth C, et al. Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies. Horm Metab Res. 2008;40:722-6 pubmed publisher
    ..05), but not for WFS1, CDKN2A/B, KCNJ11, or EXT2...
  44. Akturk Md H, Yasa MSc S. Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatr Endocrinol Diabetes Metab. 2017;23:107-110 pubmed publisher
    ..WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus...
  45. Qu H, Grant S, Bradfield J, Kim C, Frackelton E, Hakonarson H, et al. Association analysis of type 2 diabetes Loci in type 1 diabetes. Diabetes. 2008;57:1983-6 pubmed publisher
    To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L...
  46. Conart J, Maalouf T, Jonveaux P, Guerci B, Angioi K. [Wolfram syndrome: clinical and genetic analysis in two sisters]. J Fr Ophtalmol. 2011;34:543-6 pubmed publisher
    ..It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father...
  47. Serretti A, Cusin C, Cristina S, Lorenzi C, Lilli R, Lattuada E, et al. Multicentre Italian family-based association study on tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders. Psychiatr Genet. 2003;13:121-6 pubmed
    ..The study could not support the involvement of tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders. ..
  48. Kytövuori L, Hannula S, Maki Torkko E, Sorri M, Majamaa K. A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment. Hear Res. 2017;355:97-101 pubmed publisher
    Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene...
  49. Ohta Y, Taguchi A, Matsumura T, Nakabayashi H, Akiyama M, Yamamoto K, et al. Clock Gene Dysregulation Induced by Chronic ER Stress Disrupts β-cell Function. EBioMedicine. 2017;18:146-156 pubmed publisher
    In Wfs1-/-Ay/a islets, in association with endoplasmic reticulum (ER) stress, D-site-binding protein (Dbp) expression decreased and Nuclear Factor IL-3 (Nfil3)/E4 Promoter-binding protein 4 (E4bp4) expression ..
  50. Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord. 2000;58:11-7 pubmed
    Wolfram syndrome (WFS) is an autosomal recessive neurodegenerative disorder. Recently, the WFS1 gene was isolated, and approximately 80% of the mutations responsible for WFS were found in exon 8 of WFS1...
  51. Ghahraman M, Abbaszadegan M, Vakili R, Hosseini S, Fardi Golyan F, Ghaemi N, et al. Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. Acta Diabetol. 2016;53:899-904 pubmed publisher
    ..The related gene, WFS1, encodes a transmembrane glycoprotein, named wolframin. Genetic analyses demonstrated that mutations in this gene are associated with WS type 1...
  52. Harris F, Green R, Joy E, Kayatz B, Haines A, Dangour A. The water use of Indian diets and socio-demographic factors related to dietary blue water footprint. Sci Total Environ. 2017;587-588:128-136 pubmed publisher
    ..The socio-demographic associations of dietary WFs were explored using mixed effects regression models with a particular focus on blue (irrigation) WF given the ..
  53. Kovacs Nagy R, Elek Z, Szekely A, Nánási T, Sasvari Szekely M, Ronai Z. Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:404-12 pubmed publisher
    Rare mutations in the WFS1 gene lead to Wolfram syndrome, a severe multisystem disorder with progressive neurodegeneration and diabetes mellitus causing life-threatening complications and premature death...
  54. Must A, Koks S, Vasar E, Tasa G, Lang A, Maron E, et al. Common variations in 4p locus are related to male completed suicide. Neuromolecular Med. 2009;11:13-9 pubmed publisher
    ..The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide...
  55. Ligi D, Croce L, Mosti G, Raffetto J, Mannello F. Chronic Venous Insufficiency: Transforming Growth Factor-β Isoforms and Soluble Endoglin Concentration in Different States of Wound Healing. Int J Mol Sci. 2017;18: pubmed publisher
    ..Patients with inflammatory (Infl) and granulating (Gran) VLU were recruited. WFs and THP-1 monocytes exposed to Infl and Gran WF (treated/untreated with sulodexide) were analyzed for TGF-β ..
  56. Rouzier C, Moore D, Delorme C, Lacas Gervais S, Ait El Mkadem S, Fragaki K, et al. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. Hum Mol Genet. 2017;26:1599-1611 pubmed publisher
    ..The majority of patients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been described in a small number of families with ..
  57. Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, et al. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. Ophthalmology. 2016;123:1989-98 pubmed publisher
    To search for WFS1 mutations in patients with optic atrophy (OA) and assess visual impairment. Retrospective molecular genetic and clinical study...
  58. Rigoli L, Lombardo F, Salzano G, di Bella C, Messina M, De Luca F, et al. Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype. Gene. 2013;526:487-9 pubmed publisher
    The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only ..
  59. Hofmann S, Bauer M. Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin. FEBS Lett. 2006;580:4000-4 pubmed
    Wolfram syndrome is caused by mutations in WFS1 encoding wolframin, a polytopic membrane protein of the endoplasmic reticulum. Here, we investigated the molecular pathomechanisms of four missense and two truncating mutations in WFS1...
  60. Yuan B, Su F, Wu W, Liu W, Chiu K. A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise. J Chin Med Assoc. 2012;75:36-9 pubmed publisher
    ..There was a significant difference (p=0.027) in WFS1 (T2500C) polymorphism between NIHL subjects and controls...
  61. Chidambaram M, Radha V, Mohan V. Replication of recently described type 2 diabetes gene variants in a South Indian population. Metabolism. 2010;59:1760-6 pubmed publisher
    ..003) of the CDKN2A/B gene, rs7923837 (P = .038) of the HHEX gene, and rs12056034 (P = .033) of the BAZ1B gene were associated with T2D in our population. Large-scale studies are needed in our population to validate our findings. ..