Property Summary

NCBI Gene PubMed Count 158
PubMed Score 250.21
PubTator Score 243.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 192 0.0 2.0

Expression

  Differential Expression (15)

Disease log2 FC p
psoriasis -2.400 1.7e-05
osteosarcoma -2.452 1.1e-04
group 3 medulloblastoma -1.700 9.2e-07
astrocytoma 1.800 1.8e-02
atypical teratoid/rhabdoid tumor -1.300 1.1e-09
medulloblastoma, large-cell -1.700 1.8e-04
primitive neuroectodermal tumor -1.100 1.3e-02
non-small cell lung cancer -1.373 1.2e-15
intraductal papillary-mucinous neoplasm ... 1.600 1.3e-02
lung cancer -1.300 3.6e-04
lung adenocarcinoma -1.600 4.8e-16
pediatric high grade glioma -1.100 9.9e-05
pilocytic astrocytoma -1.100 1.3e-07
posterior fossa group B ependymoma 1.100 2.1e-06
aldosterone-producing adenoma 1.299 1.4e-02

 GWAS Trait (1)

Gene RIF (144)

PMID Text
26773575 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.
26426397 Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
26169481 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]
25764693 Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.[review]
25740874 Early-onset Central diabetes insipidus is associated with de novo mutations of the AVP gene and with hereditary WFS1 gene changes.
25274773 Results reveal a role for WFS1 in the negative regulation of SERCA and provide further insights into the function of WFS1 in calcium homeostasis.
25255707 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.
25250959 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.
25211237 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.
25074416 No association was found between wolframin gene H611R polymorphism and mood disorders.
24909696 WFS1 gene mutations are a rare cause of hearing impairment among Finnish children.
24588001 The decrease in wolframin expression in diabetic placenta suggests that this protein may participate in maintaining the physiologic glucose homeostasis in this organ.
24117146 Two familial cases of Wolfram syndrome caused by a novel homozygous WFS1 missense mutation, are reported.
23903355 This represents the first compelling report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.
23845777 A homozygous insertion mutation in WFS1 may be associated with early onset of disease symptoms in Wolfram syndrome.
23650218 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
23595122 The results support previous findings that genetic variation of WFS1 contributes to the risk of diabetes mellitus and sensorineural hearing impairment.
23531866 Identified a DNA substitution (c.1385A-to-G) in WFS1 exon.
23499253 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.
23373429 The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.
23257691 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]
23144361 In African Americans, seven of the 29 SNPs examined were found to be associated with T2D risk at P </= 0.05, including 2 SNPs in the WFS1 gene (rs4689388 and rs1801214).
23103830 Description of a novel missense mutation of the WFS1 gene in exon 4 of WFS1 gene in two Italian siblings with Wolfram syndrome.
23035048 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.
22781099 report of male Wolfram patients with WFS1 mutations who have successfully fathered children
22662265 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.
22498363 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.
22240535 genetic variation of Wolfram syndrome type 1 gene was a more crucial factor than other genes in causing hearing loss.
21968327 A new homozygous WFS1 mutation causing causing Wolfram syndrome is identified in a large inbred Turkish family.
21823543 report a consanguineous family with three siblings affected by Wolfram syndrome. A homozygous single base pair deletion (c.877delC, L293fsX303) was found in the WFS1 gene in all three affected siblings
21713316 A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients
21632151 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.
21623591 Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation.
21564155 Nine different mutations in WFS1 (five of them novel) were identified in nine Wolfram syndrome patients.
21538838 The p.A684V missense mutation in the WFS1 gene is a frequent cause of autosomal dominant optic atrophy and hearing impairment.
21454619 ER stress induces Smurf1 degradation and WFS1 up-regulation
21356526 WFS1 is the gene responsible for autosomal dominant low-frequency sensorineural hearing loss in a Chinese family, as well as in a sporadic case. These WFS1 mutations are not present in unaffected control subjects.
21143470 Novel mutations in the wolframin gene are identified that are associated with non-immunogenic diabetes mellitus and a progressive atrophy of the optic nerve.
21127832 The most frequent haplotype at the haplotype block containing the WFS1 gene modulated insulin secretion and was associated with an increased risk of type 2 diabetes.
20889853 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20879858 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20802253 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20580033 Observational study of gene-disease association. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20509872 Observational study of gene-disease association. (HuGE Navigator)
20490451 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20384434 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20361036 the HNF4A and WFS1 risk alleles predispose to development of type 2 diabetes in an Ashkenazi Jewish population
20361036 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20215779 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20203524 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20160352 a role for WFS1 in the negative regulation of ER stress signaling and in the pathogenesis of diseases involving chronic, unresolvable ER stress, such as pancreatic beta cell death in diabetes.
20069065 This study describes the phenotype of a family with autosomal dominant optic neuropathy and hearing impairment associated with a novel missense mutation in WFS1.
20028947 six highly correlated single nucleotide polymorphisms that show strong and comparable associations with risk of type 2 diabetes
20028947 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19877185 The family described with autosomal dominant inheritance of K836T of the WFS1 gene demonstrates a progressive hearing loss in the lower frequencies.
19862325 Observational study of gene-disease association. (HuGE Navigator)
19833888 Observational study of gene-disease association. (HuGE Navigator)
19814620 Observational study of gene-disease association. (HuGE Navigator)
19794065 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19741467 Observational study of gene-disease association. (HuGE Navigator)
19734900 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19720844 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19602701 Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
19598235 WFS1 gene is associated with autistic traits, empathy and Asperger syndrome.
19598235 Observational study of gene-disease association. (HuGE Navigator)
19502414 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19380854 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19330314 A common genetic variant in WFS1 specifically impairs GLP-1-induced insulin secretion independently of insulin sensitivity
19330314 Observational study of gene-disease association. (HuGE Navigator)
19328217 The H611R polymorphism of Wolframin gene was associated with mood disorders but not suicidal behavior, aggressive/impulsive traits or suicidality in first-degree relatives.
19328217 Observational study of gene-disease association. (HuGE Navigator)
19324937 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19279076 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19258739 found no evidence for a substantial effect of WFS1 polymorphisms on risk of type 2 diabetes or clinical characteristics of diabetic subjects in Japanese population
19258404 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19139842 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19115052 Observational study of gene-disease association. (HuGE Navigator)
19082521 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19042979 WFS1 is the major gene involved in Wolfram syndrome in Brazilian patients and most mutations are concentrated in exon 8
19020324 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18991055 Observational study of gene-disease association. (HuGE Navigator)
18984664 Observational study of gene-disease association. (HuGE Navigator)
18853134 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18806274 The WFS1 locus strongly contributes to juvenile-onset diabetes in Lebanon in Wolfram syndrome and non-syndromic non-autoimmune diabetes mellitus detected by linkage analysis; effect varies by allele.
18694974 Study show that polymorphisms in WFS1 were associated with type 2 diabetes risk in the studied population.
18688868 A novel missense mutation in WFS1 was identified which caused Wolfram syndrome and may also be linked to autoimmune diseases.
18660851 This report of two novel WFS1 mutations expands the molecular spectrum of Wolfram syndrome.
18597214 Observational study of gene-disease association. (HuGE Navigator)
18591388 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18568334 Type 2 diabetes-associated risk alleles of WFS1 are associated with estimates of a decreased pancreatic beta cell function among middle-aged individuals with abnormal glucose regulation
18568334 Observational study of gene-disease association. (HuGE Navigator)
18566338 The WFS1 gene is located on the short arm of chromosome 4 in Wolfram syndrome.
18544103 maternally inherited combination of diabetes mellitus and hearing impairment in three members of a family was found to be associated with autosomal dominant transmission of the E864K mutation of the WFS1 gene
18518985 a novel heterozygous missense mutation in exon 8 of WFS1 predicting a p.R685P amino acid substitution that is likely to underlie the low frequency sensorineural hearing loss phenotype in the American family
18426861 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18197395 May be a candidate gene for type 2 diabetes.
18060660 Genome-wide association datase revealed that a strong linkage disequilibrium with the three WFS1 single nucleotide polymorphisms was associated with type 2 diabetes.
18060660 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18040659 Replication of the previously reported associations between SNPs at this locus and the risk of type 2 diabetes.
18040659 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17947299 Study identifies an interaction between Wolframin and Na+/K+ ATPase beta1 subunit in transfected Cos7 cells, and between endogenous proteins in placental, neuroblastoma and MIN6 pancreatic beta-cell lines.
17719176 Observational study of gene-disease association. (HuGE Navigator)
17719176 The wolframin His611Arg polymorphism influences medication overuse headache.
17603484 Observational study of gene-disease association. (HuGE Navigator)
17603484 In a pooled analysis comprising 9,533 cases and 11,389 controls, SNPs in WFS1 were strongly associated with common type 2 diabetes risk.
17568405 Results reported eight novel WFS1 mutations in Wolfram syndrome.
17517145 a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the low-frequency sensorineural hearing loss (LFSNHL) phenotype in a Taiwanese family was discovered
17492394 one-third (3 out of 9) autosomal dominant low frequency sensorineural hearing loss(LFSNHL) families had mutations in WFS1, indicating that in non-syndromic hearing loss WFS1 is restrictively & commonly found within autosomal dominant LFSNHL families
16989814 WFS1 protein participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the ER Ca(2+) store
16965966 WFS1 minimal promoter contains two DNA binding motifs (GC boxes) for the transcription factors Sp1/3/4 and binding of both Sp1 and Sp3 was demonstrated at both motifs in vitro and in vivo.
16876316 Observational study of gene-disease association. (HuGE Navigator)
16806192 WFS1 mutations lead to drastically reduced steady-state levels of wolframin.
16550584 Missense mutations within a defined region are associated with dominant low-frequency hearing loss (DFNA6/14/38), while more severe mutations spanning WFS1 are found in Wolfram syndrome patients.
16408729 Mutations in WFS1 are one cause of non-syndromic low frequency sensorineural hearing loss.
16195229 the pathogenesis of Wolfram syndrome involves chronic ER stress in pancreatic beta-cells caused by the loss of function of WFS1
16151413 Molecular analysis of WFS1 in seven families with Wolfram syndrome identified eight different mutations; one was a de novo mutation occurring independently in 2 families, whereas the remaining ones were inherited.
16043233 This study presents a six-generation family from Hungary with nonsyndromic, post-lingual, bilateral, symmetric, progressive LFSNHI, that discloses positive linkage to the DFNA6 region.
16005363 A nine nucleotide insertional mutation in two members of a family with Wolfram syndrome.
15912360 Mutations in one single gene, Wolfram syndrome 1 (WFS1), have been reported to account for most familial cases with low-frequency hearing loss.
15852062 The relative risk of psychiatric hospitalization for depression was estimated to be 7.1 (95% CI 1.9-26.6) for carriers of a single wolframin mutation compared to noncarriers.
15473915 Observational study of gene-disease association. (HuGE Navigator)
15473915 These results support the hypothesis that the WFS1 gene is involved in the genetic predisposition for mood disorders.
15277431 most causative changes identified in the WFS1 gene occurred in exon 8, and only one was identified outside this region in exon 4 in patients with Wolfram syndrome
15234338 Observational study of gene-disease association. (HuGE Navigator)
14968315 In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons.
14527944 Wolframin has a role in the regulation of intracellular Ca2+ homeostasis
12955714 Overview of the spectrum of WFS1 mutations in Wolfram syndrome, nonsyndromic low frequency sensorineural hearing impairment,diabetes mellitus, and psychiatric disease.
12913071 Here we investigate, for the first time, the molecular mechanisms that cause loss-of-function of wolframin in affected individuals.
12782971 This study does not support the involvement of tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders.
12754709 mutational analysis of the WFS1 coding region in 19 Italian Wolfram syndrome patients and 25 relatives, using a DHPLC-based protocol
12707947 found a significantly higher frequency of the 611R/611R genotype in suicide completers. Scores of impulsivity and novelty seeking were higher in subjects with the associated genotype, suggesting a role for WFS1 in the pathophysiology of impulsive suicide
12650912 In all affected family members analysed, we detected a missense mutation in WFS1 (K705N) and therefore confirm the finding that the majority of mutations responsible for LFSNHI are missense mutations which localise to the C-terminal domain of the protein.
12605098 WFS1 is not a major susceptibility gene for the development of psychiatric disorders in subjects with Wolfram syndrome.
12107816 Four new polymorphisms associated with Wolfram syndrome. Not all patients have full syndrome.
12073007 Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
11920861 Did not find evidence of an increased incidence of WFS carriers in the suicide panel and concluded that WFS1 carrier status is not a significant contributor to suicide in the general population.
11916957 Observational study of gene-disease association. (HuGE Navigator)
11709538 The causal relationship between WFS1 missense mutation and deafness was supported by two observations based on haplotype and mutation analysis of the kindred.
11709537 Five different heterozygous missense mutations (T699M, A716T, V779M, L829P, G831D) in the WFS1 gene found in six low frequency sensorineural hearing loss (LFSNHL) families.

AA Sequence

MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRS      1 - 70
RERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRRE     71 - 140
AVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEH    141 - 210
DGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPE    211 - 280
DLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIF    281 - 350
YLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP    351 - 420
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFIT    421 - 490
VPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRAS    491 - 560
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRS    561 - 630
SMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTW    631 - 700
TGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKF    701 - 770
DRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF    771 - 840
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA                        841 - 890
//

Text Mined References (166)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26773575 2016 c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
26426397 2015 Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
26169481 2015 Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25764693 2015 [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
25740874 2015 Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
25274773 2015 Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.
25255707 2014 Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
25250959 2014 Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
25211237 2014 Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
25074416 2015 No association between wolframin gene H611R polymorphism and mood disorders: evidence from 2,570 subjects.
24909696 2014 WFS1 mutations in hearing-impaired children.
24588001 2014 Modulation of wolframin expression in human placenta during pregnancy: comparison among physiological and pathological states.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24462758 2014 WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.
24117146 2014 Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.
23903355 2013 Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
23845777 2013 Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.
23710284 2013 Endoplasmic reticulum stress and Parkinson's disease: the role of HRD1 in averting apoptosis in neurodegenerative disease.
23650218 2013 Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene.
23595122 2013 WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
23531866 2013 Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
23499253 2013 Ultrafast haplotyping of putative microRNA-binding sites in the WFS1 gene by multiplex polymerase chain reaction and capillary gel electrophoresis.
23373429 2013 Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.
23257691 2013 Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a meta-analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23144361 2012 Evaluation of genome-wide association study-identified type 2 diabetes loci in African Americans.
23103830 2013 Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.
23035048 2013 Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22781099 2013 Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
22662265 2012 Exome sequencing and genetic testing for MODY.
22498363 2012 Comorbidity of GJB2 and WFS1 mutations in one family.
22240535 2012 A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise.
22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
21968327 2012 Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
21823543 2011 A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
21713316 2010 A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients.
21632151 2011 [Wolfram syndrome: clinical and genetic analysis in two sisters].
21623591 Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
21564155 2011 Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.
21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
21454619 2011 The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.
21356526 2011 Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.
21269460 2011 Initial characterization of the human central proteome.
21143470 2011 Novel mutations of wolframin: a report with a look at the protein structure.
21127832 2011 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.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20889853 2011 Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
20879858 2010 Impact of single nucleotide polymorphisms and of clinical risk factors on new?onset diabetes mellitus in HIV?infected individuals.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20802253 2010 Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20581827 2010 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
20580033 2010 Replication of recently described type 2 diabetes gene variants in a South Indian population.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20509872 2010 Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
20490451 2010 Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.
20384434 2010 Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism.
20361036 2010 Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population.
20215779 2009 Evidence of interaction between type 2 diabetes susceptibility genes and dietary fat intake for adiposity and glucose homeostasis-related phenotypes.
20203524 2010 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
20160352 2010 Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.
20069065 2010 Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
20028947 2010 Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19877185 2010 Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.
19862325 2009 PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
19833888 2010 Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function.
19814620 2009 GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
19794065 2010 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
19741467 2009 Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
19720844 2009 Use of multiple metabolic and genetic markers to improve the prediction of type 2 diabetes: the EPIC-Potsdam Study.
19602701 2009 Underlying genetic models of inheritance in established type 2 diabetes associations.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
19502414 2009 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.
19380854 2009 Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.
19330314 2009 A common genetic variant in WFS1 determines impaired glucagon-like peptide-1-induced insulin secretion.
19328217 2009 Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to mood disorders.
19324937 2009 Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
19279076 2009 Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
19258739 2008 Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population.
19258404 2009 The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity.
19139842 2009 Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.
19115052 2009 Common variations in 4p locus are related to male completed suicide.
19082521 2009 Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies.
19042979 2009 Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
19020324 2008 Clinical risk factors, DNA variants, and the development of type 2 diabetes.
18991055 2008 Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
18984664 2009 Common type 2 diabetes risk gene variants associate with gestational diabetes.
18853134 2008 The search for putative unifying genetic factors for components of the metabolic syndrome.
18806274 2008 WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
18694974 2008 Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
18688868 2008 Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
18660851 2008 Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
18597214 2008 Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies.
18591388 2008 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
18568334 2008 Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation.
18566338 2008 Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
18544103 2008 Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.
18518985 2008 A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.
18426861 2008 Association analysis of type 2 diabetes Loci in type 1 diabetes.
18212765 2008 Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
18197395 2008 Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes.
18060660 2008 Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
18040659 2008 Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.
17947299 2008 Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.
17719176 2007 The wolframin His611Arg polymorphism influences medication overuse headache.
17603484 2007 Common variants in WFS1 confer risk of type 2 diabetes.
17568405 2007 Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
17517145 2007 A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
17492394 2007 Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
16989814 2006 WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum.
16965966 2006 The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors.
16876316 2006 Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.
16806192 2006 Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
16648378 2006 Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
16550584 2006 Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum.
16408729 2005 [Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].
16195229 2005 WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.
16151413 2005 Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
16087305 Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.
16043233 2006 Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.
16005363 2005 Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
15994758 2005 Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation.
15912360 2005 Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
15852062 2005 Wolframin mutations and hospitalization for psychiatric illness.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15473915 2005 Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.
15277431 2004 Phenotype-genotype correlations in a series of wolfram syndrome families.
15234338 2004 Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
14968315 2004 [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14527944 2003 Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.
12955714 2003 Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
12913071 2003 Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
12782971 2003 Multicentre Italian family-based association study on tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders.
12754709 2003 Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
12707947 2003 Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior.
12650912 2003 Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
12605098 2003 The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12181639 2002 Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
12107816 2002 WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
11916957 2002 Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
11709538 2001 Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
11709537 2001 Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
11317350 2001 WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.
11181571 2001 WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain.
11181517 2001 Physiological concentrations of insulin promote binding of nuclear proteins to the insulin-like growth factor I gene.
11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
10760554 2000 WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
10679252 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.
10624825 1999 A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.
10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.
10424813 1999 A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.
9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
8595423 1995 A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.
7987399 1994 Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.