|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Similar to patients with Wolfram syndrome and to heterozygous Wolframin1 (Wfs1) mutation carriers, Wfs1-deficient mice exhibit impaired glucose tolerance and lower plasma insulin levels.
|
30266217 |
2019 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In the current study, we investigated associations between these loci and WS via STR markers and homozygosity mapping in 13 Iranian families with WS.All families were linked to WFS1 locus.
|
31313226 |
2019 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in WFS1 are responsible for the majority of Wolfram syndrome cases.
|
31796109 |
2019 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Wfs1 mutations are responsible for the Wolfram syndrome, characterized by diabetic and neurological symptoms.
|
30930784 |
2019 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
WFS1 and CISD2 are two main causing genes of WFS.
|
31391115 |
2019 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome.
|
29529044 |
2018 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Wolfram Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Our study provides deeper insights into the pathophysiology of beta cell dysfunction caused by WFS1 deficiency and implies that activation of the GLP-1 receptor signal may alleviate insulin insufficiency and aid glycaemic control in Wolfram syndrome.
|
30054673 |
2018 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described.
|
29774890 |
2018 |
|
Wolfram Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, the transcriptomic profiles of WFS1-deficient hypothalamus and hippocampus do indicate the activation of degenerative molecular pathways causing the clinical occurrences typical to Wolfram syndrome.
|
29406269 |
2018 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WFS1 (Wolframin1) gene.
|
29976929 |
2018 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described.
|
30171196 |
2018 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2).
|
29277467 |
2018 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The frequent form of WFS type 1 (WFS1) harbors causative mutations in the WFS1 gene, whereas the rare form or WFS type 2 (WFS2) involves CISD2.
|
29239282 |
2018 |
|
Wolfram Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
As a notable result, the genes associated with many kinds of syndromic hearing loss (such as Clpp, Hars2, Hsd17b4, Lars2 for Perrault syndrome, Polr1c and Polr1d for Treacher Collins syndrome, Ndp for Norrie Disease, Kal for Kallmann syndrome, Edn3 and Snai2 for Waardenburg Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the spiral ganglion than in other parts of the cochlea.
|
28263850 |
2017 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).
|
27468121 |
2017 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene.
|
28974383 |
2017 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
|
28271591 |
2017 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.
|
28860598 |
2017 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome.
|
26773575 |
2016 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Our aim in this study was to sequence WFS1 coding region in Iranian Wolfram syndrome pedigrees.
|
27412528 |
2016 |
|
Wolfram Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Wolfram syndrome (WS, MIM 222300) is a rare autosomal, recessive neurodegenerative disorder associated with mutations in WFS1, a gene that has been associated with bipolar disorder (BD).
|
27045389 |
2016 |
|
Wolfram Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Elucidating the function of wolframin protein in the basal cells of primates would be essential for understanding the pathogenesis of hearing loss in patients with Wolfram syndrome, which may lead to the discovery of new therapeutics.
|
27341211 |
2016 |