|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Activation of the muscarinic pathway to potentiate insulin secretion may present a target to manage diabetes resulting from Wfs1 deficiency.
|
30266217 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.
|
29549887 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We have identified a low-frequency coding variant in the WFS1 gene that is enriched in Ashkenazi Jewish individuals and causes a mild form of Wolfram syndrome characterised by young-onset diabetes and reduced penetrance for optic atrophy.
|
30014265 |
2018 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
These Wfs1-ex5-KO232 rats show progressive glucose intolerance, which culminates in the development of diabetes mellitus, glycosuria, hyperglycaemia and severe body weight loss by 12 months of age.
|
28860598 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The presence of minor loss-of-function variants in WFS1 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%-100%]; specificity 78% [73%-82%]).
|
28432734 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
One individual with early onset diabetes was homozygous for a rare pathogenic missense variant in the WFS1 gene but did not have the additional phenotypes associated with Wolfram syndrome.
|
29207974 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Biallelic WFS1 mutations were found in 3 of 24 unrelated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associated with diabetes mellitus and OA.
|
27395765 |
2016 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance of wolframin in the pathogenesis, exact role of WFS1 polymorphic variants in the development of type 1 and type 2 diabetes has not been discovered yet.
|
26426397 |
2015 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The rs734312 from WFS1 gene was associated with diabetes at genotype level (P<0.01).
|
24477584 |
2014 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The WFS1 gene, encoding a transmembrane glycoprotein of the endoplasmic reticulum called wolframin, is mutated in Wolfram syndrome, an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ abnormalities.
|
24588001 |
2014 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy.The disease gene for WFS2 is CISD2.
|
25056293 |
2014 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
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.
|
23650218 |
2013 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
By conducting gene expression studies using the islets of Wfs1(-/-) A(y)/a mice that develop severe diabetes due to β-cell apoptosis, we demonstrated clock-related gene expressions to be altered in the diabetic mice.
|
23567972 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
(i) 15% of published patients do not fulfill the current -inclusion criterion; (ii) genotypic prevalence differences may exist among countries; (iii) diabetes mellitus and optic atrophy might not be the first two clinical features in some patients; (iv) mutations are nonuniformly distributed in WFS1; (v) age at onset of diabetes mellitus, hearing defects, and diabetes insipidus may depend on the patient's genotypic class; and (vi) disease progression rate might depend on genotypic class.
|
23429432 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study stresses the necessity of considering the molecular analysis of WFS1 in childhood diabetes with some symptoms of WS.
|
23845777 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The results support previous findings that genetic variation of WFS1 contributes to the risk of DM and SNHI.
|
23595122 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
At least three variants (in WFS1, TSPAN8 and THADA) were nominally associated with diabetes progression in age- and sex-adjusted analyses with estimates showing the same direction of effects as reported in the discovery European ancestry studies.
|
23851660 |
2013 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Novel variants in the genes ARAP1, GLIS3, MADD, NOTCH2 and WFS1 need further investigation to reveal their possible role in diabetes.
|
22662265 |
2012 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
The Wfs1-null mouse exhibits progressive insulin deficiency causing diabetes.
|
21199859 |
2011 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
WFS1 genotypes were examined for correlation with age at onset of diabetes.
|
21602428 |
2011 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
However, Wfs1 ( -/- ) A ( y ) /a mice developed selective beta cell loss and severe insulin-deficient diabetes as early as 8 weeks.
|
19190890 |
2009 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the light of this confirmatory study, we recommend the systematic analysis of WFS1 gene sequences in patients with parentally inherited diabetes mellitus and deafness (+/- optic atrophy), in particular when diabetogenic mtDNA mutations have been excluded.
|
18544103 |
2008 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We genotyped the WFS1 SNPs rs10010131, rs752854 and rs734312 (H611R) in 3,548 DPP participants and performed Cox regression analysis using genotype, intervention and their interactions as predictors of diabetes incidence.
|
18060660 |
2008 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Of the 38 patients identified with homozygous or compound heterozygous WFS1 mutations, 11 (29%) had non-syndromic DM, all of whom carried a particular WFS1 mutation, WFS1(LIB), encoding a protein with an extended C-terminal domain.
|
18806274 |
2008 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
LHGDN |
In the light of this confirmatory study, we recommend the systematic analysis of WFS1 gene sequences in patients with parentally inherited diabetes mellitus and deafness (+/- optic atrophy), in particular when diabetogenic mtDNA mutations have been excluded.
|
18544103 |
2008 |