Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
|
30171196 |
2018 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
BEFREE |
Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.
|
29357349 |
2018 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin.
|
28901522 |
2017 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
BEFREE |
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice.
|
29257731 |
2017 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
|
28468959 |
2017 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY).
|
27185633 |
2016 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.
|
26875006 |
2016 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
|
26435059 |
2015 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
CTD_human |
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.
|
24705017 |
2014 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
|
25211237 |
2014 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
MGD |
Energy metabolism and thyroid function of mice with deleted wolframin (Wfs1) gene.
|
24710642 |
2014 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic characteristics of early Wolfram syndrome.
|
23981289 |
2013 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Wolfram syndrome: new mutations, different phenotype.
|
22238590 |
2012 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
|
22226368 |
2012 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1.
|
22790102 |
2012 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
MGD |
Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.
|
21031341 |
2011 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
|
21538838 |
2011 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
|
21538838 |
2011 |
Wolfram Syndrome 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
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.
|
20160352 |
2010 |
Wolfram Syndrome 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Congenital cataracts in two siblings with Wolfram syndrome.
|
21067485 |
2010 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
MGD |
Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway.
|
19293327 |
2009 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
MGD |
Behavioral and gene expression analyses of Wfs1 knockout mice as a possible animal model of mood disorder.
|
18343518 |
2008 |
Wolfram Syndrome 1
|
0.980 |
Biomarker
|
disease |
BEFREE |
DNA analysis to examine single-nucleotide polymorphisms in 2 candidate modifier genes (ATP2B2 and Wolfram syndrome 1 [WFS1]) is summarized in this report.
|
18667942 |
2008 |