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WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
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title
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
(English)
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main subject
Wolfram syndrome
1 reference
based on heuristic
inferred from title
author name string
Farhat Khanim
series ordinal
1
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Jeremy Kirk
series ordinal
2
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Farida Latif
series ordinal
3
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Timothy G. Barrett
series ordinal
4
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publication date
2001
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published in
Human Mutation
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volume
17
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issue
5
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page(s)
357-367
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cites work
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mitochondrial genome in Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram syndrome: a mitochondrial-mediated disorder?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial abnormalities in the DIDMOAD syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Morbidity and mortality in the Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for linkage of postchallenge insulin levels with intestinal fatty acid-binding protein (FABP2) in Mexican-Americans.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of chromosomal markers on 4q with a putative gene determining maximal insulin action in Pima Indians
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of widespread axonal pathology in Wolfram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1110
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1110
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PubMed ID
11317350
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