Recombinant Human Wolframin (WFS1), partial

1. Altered expression of WFS1 and NOTCH2 genes may play a role in pathogenesis and development of DN in patients with T2DM. PMID: 29626590
2. A nonsynonymous mutation in the WFS1 gene causing late-onset sensorineural hearing impairment with audiogram configurations typical for age-related hearing impairment. PMID: 28974383
3. Protective role of wfs1 against stress and age-associated neurodegeneration. PMID: 29357349
4. Study successfully identified eight previously reported mutations and five novel variants, and estimated the incidence of WFS1 variants to be 2.5% in Japanese families with presumably autosomal dominant or mitochondrial HL. Also, results found that some variants can occur as de novo change at the mutational hot spots in WFS1, resulting in an audiovestibular phenotype. PMID: 29529044
5. We show for the first time the role of WFS1 in CAO and document a statistically significant interaction between increasing cumulative cisplatin dose and rs62283056 genotype. Our clinical translational results demonstrate that pretherapy patient genotyping to minimize ototoxicity could be useful when deciding between cisplatin-based chemotherapy regimens of comparable efficacy with different cumulative doses PMID: 28039263
6. findings strongly suggest that the c.2389G>A mutation in WFS1 is associated with all-frequency hearing loss, rather than low- or high-frequency loss PMID: 29447883
7. a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1-gene was identified in a family with autosomal-dominant hereditary hearing impairment PMID: 28419064
8. WFS1 is a highly polymorphic gene and determining the mode of inheritance or the pathological significance of a specific WFS1 variant is not always straightforward, especially in singleton cases with no access to other family members. Our study has revealed an interesting association between dominant missense WFS1 mutations and distinct OPL lamination on spectral domain OCT, which was not observed in patients with recessi PMID: 26875006
9. This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL. PMID: 29258540
10. data extend the mutation spectrum of the WFS1 gene in Chinese individuals and may contribute to establishing a better genotype-phenotype correlation for LFSNHL. PMID: 28802351
11. WFS1 and GJB2 mutations were identified in eight of 74 cases of Low-Frequency Sensorineural Hearing Loss. Four cases had heterozygous WFS1 mutations; one had a heterozygous WFS1 mutation and a heterozygous GJB2 mutation; and three cases had biallelic GJB2 mutations. Three cases with WFS1 mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents. PMID: 28271504
12. Specific dominant WFS1 mutations are a cause of a novel syndrome including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness. PMID: 28468959
13. Data show that mutations in Wolfram syndrome 1 (wolframin) protein (WFS1) gene were identified in three children with Wolfram syndrome. PMID: 27468121
14. provides genotyping protocols readily applicable in any multiplex SNP and VNTR analyses, moreover confirms and extends previous results about the role of WFS1 polymorphisms in the genetic risk of diabetes mellitus PMID: 27377286
15. In this study, we found that patients with isolated, autosomal recessive nonsyndromic optic atropy have biallelic mutations in WFS1. We found that a high percentage (15%) of autosomal recessive non-syndromic optic atropy in families is caused by WFS1 mutations PMID: 27395765
16. Nonsense mutation in the WFS1 gene is associated with Wolfram syndrome. PMID: 26943604
17. Four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees identified. PMID: 27412528
18. Data show that Wolfram syndrome 1 (WFS1; wolframin) promoter activity was highest with the most frequent haplotype (H1; ATCGT) and lowest with second most frequent haplotype (H2; GATCG). PMID: 25800097
19. A mutation (c.376G>A, p.A126T) was found in all 5 family members affected with Wolfram syndrome in homozygous state and in both parents in heterozygous state. PMID: 26773575
20. Data suggest that a novel mutation in WFS1 [c.13481350 del ins TAG (p.His450*)] causes Wolfram-like syndrome in homozygous daughter with maternal uniparental disomy of chromosome 4; heterozygous mother is unaffected. [CASE REPORT] PMID: 26169481
21. Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. PMID: 26426397
22. The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period. PMID: 25255707
23. A novel missense mutation c.2389G > A (GAC -AAC) in WFS1 gene causes non-syndromic hearing loss in all, rather than in low or high, frequencies. PMID: 25250959
24. Results reveal a role for WFS1 in the negative regulation of SERCA and provide further insights into the function of WFS1 in calcium homeostasis. PMID: 25274773
25. No association was found between wolframin gene H611R polymorphism and mood disorders. PMID: 25074416
26. This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset. PMID: 25211237
27. Early-onset Central diabetes insipidus is associated with de novo mutations of the AVP gene and with hereditary WFS1 gene changes. PMID: 25740874
28. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.[review] PMID: 25764693
29. Two familial cases of Wolfram syndrome caused by a novel homozygous WFS1 missense mutation, are reported. PMID: 24117146
30. WFS1 gene mutations are a rare cause of hearing impairment among Finnish children. PMID: 24909696
31. The decrease in wolframin expression in diabetic placenta suggests that this protein may participate in maintaining the physiologic glucose homeostasis in this organ. PMID: 24588001
32. Identified a DNA substitution (c.1385A-to-G) in WFS1 exon. PMID: 23531866
33. The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome. PMID: 23373429
34. The results support previous findings that genetic variation of WFS1 contributes to the risk of diabetes mellitus and sensorineural hearing impairment. PMID: 23595122
35. This represents the first compelling report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes. PMID: 23903355
36. Description of a novel missense mutation of the WFS1 gene in exon 4 of WFS1 gene in two Italian siblings with Wolfram syndrome. PMID: 23103830
37. A homozygous insertion mutation in WFS1 may be associated with early onset of disease symptoms in Wolfram syndrome. PMID: 23845777
38. Data from case-control genome-wide association studies suggest that 2 SNPs in WFS1 (rs734312; rs10010131) are associated with type 2 diabetes; G allele of rs734312 and A allele of rs10010131 appear to have protective effects. [META-ANALYSIS] PMID: 23257691
39. this is the first report describing a microRNA binding site polymorphism of the WFS1 gene and its association with human aggression based on a large, non-clinical sample PMID: 23650218
40. report of male Wolfram patients with WFS1 mutations who have successfully fathered children PMID: 22781099
41. Report on an efficient double-tube allele-specific amplification method in conjunction with ultrafast capillary gel electrophoresis for direct haplotyping analysis of the SNPs in two important miRNA-binding sites (rs1046322 and rs9457) in the WFS1 gene. PMID: 23499253
42. In a family with MODY diabetes, three affected subjects had the mutation c.2107C-T/p.R703C. The affected amino acid is strongly conserved and the variant suggested to be probably damaging by prediction programs. The proband developed diabetes 14 years old with no type 1 auto-antibodies and required insulin. There was no familial hearing impairment. PMID: 22662265
43. WFS1 has a specific interaction with the V1A subunit of H(+) ATPase; this interaction may be important both for pump assembly in the ER and for granular acidification. PMID: 23035048
44. In African Americans, seven of the 29 SNPs examined were found to be associated with T2D risk at P PMID: 23144361
45. Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation. PMID: 21623591
46. Two individuals who had heterozygosity of GJB2 mutations and heterozygosity of WFS1 mutations showed low-frequency hearing loss. One individual who had homozygosity of GJB2 mutation without WFS1 mutation had moderate, gradual high tone hearing loss. PMID: 22498363
47. A new homozygous WFS1 mutation causing causing Wolfram syndrome is identified in a large inbred Turkish family. PMID: 21968327
48. genetic variation of Wolfram syndrome type 1 gene was a more crucial factor than other genes in causing hearing loss. PMID: 22240535
49. Nine different mutations in WFS1 (five of them novel) were identified in nine Wolfram syndrome patients. PMID: 21564155
50. Their past medical history revealed diabetes mellitus and deafness since childhood. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. PMID: 21632151

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HGNC: 12762

OMIM: 116400

KEGG: hsa:7466

STRING: 9606.ENSP00000226760

UniGene: Hs.518602