(Q42667449)

4 November 2017

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified (English)

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4 November 2017

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Lars Hansen

1

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4 November 2017

Hans Eiberg

2

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4 November 2017

Timothy Barrett

3

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4 November 2017

Toke Bek

4

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4 November 2017

Per Kjaersgaard

5

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4 November 2017

Lisbeth Tranebjaerg

6

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4 November 2017

Thomas Rosenberg

7

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4 November 2017

1 December 2005

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European Journal of Human Genetics

4 November 2017

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4 November 2017

13

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4 November 2017

12

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4 November 2017

1275-1284

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201491

4 November 2017

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cites work

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): assignment to chromosome 2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Mutation screening of the Wolfram syndrome gene in psychiatric patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Is there a relationship between Wolfram syndrome carrier status and suicide?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

WFS1 mutations in Spanish patients with diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. Populations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Uncommon ophthalmologic findings associated with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

A DIDMOAD syndrome family with juvenile glaucoma and myopia findings

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Ophthalmologic findings in fifteen patients with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

BLAT—The BLAST-Like Alignment Tool

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

The human genome browser at UCSC

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201491

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201491

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Dimensions Publication ID

4 November 2017

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1 reference