Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
about
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyWolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calciumHolt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyHuman mtDNA haplogroups associated with high or reduced spermatozoa motilityClinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mappingThe genetics of major depressionAnnual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.Update on hereditary optic neuropathy.Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4qClinical spectrum and diagnosis of mitochondrial disorders.Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients.Molecular characterization of WFS1 in patients with Wolfram syndromeAutosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletionLinkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.Analysis of metabolic effects of menthol on WFS1-deficient mice.Molecular genetic findings in suicidal behavior: what is beyond the serotonergic system?Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populationsWolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to mood disorders.A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.Expression of the diabetes risk gene wolframin (WFS1) in the human retina.Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Syndromes of hearing loss associated with visual loss.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.Wolfram (DIDMOAD) syndrome.Wolfram syndrome: a clinicopathologic correlation.Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies.Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.WFS1 mutations in Spanish patients with diabetes mellitus and deafness
P2860
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P2860
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
description
1994 nî lūn-bûn
@nan
1994 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@ast
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@en
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@nl
type
label
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@ast
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@en
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@nl
prefLabel
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@ast
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@en
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@nl
P2093
P2860
P3181
P356
P1433
P1476
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
@en
P2093
M H Polymeropoulos
P2860
P2888
P3181
P356
10.1038/NG0994-95
P407
P577
1994-09-01T00:00:00Z