(Q50472999)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912360%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1 (English)

1 reference

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12 January 2020

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2

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12 January 2020

author name string

Nicolas Gürtler

1

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12 January 2020

Anand Mhatre

3

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12 January 2020

Christoph Schlegel

4

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12 January 2020

Adolf Mathis

5

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12 January 2020

Robert Daniels

6

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12 January 2020

Clough Shelton

7

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12 January 2020

Anil K Lalwani

8

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12 January 2020

publication date

24 May 2005

1 reference

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Journal of Molecular Medicine

12 January 2020

published in

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12 January 2020

volume

83

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12 January 2020

issue

7

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12 January 2020

page(s)

553-560

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https://scigraph.springernature.com/pub.10.1007/s00109-005-0665-1

12 January 2020

exact match

0 references

cites work

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-005-0665-1

Molecular characterization of WFS1 in patients with Wolfram syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-005-0665-1

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss

1 reference

12 December 2020

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

1 reference

12 December 2020

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

12 December 2020

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Audiograms of five species of rodents: implications for the evolution of hearing and the perception of pitch.

1 reference

12 December 2020

DFNA54, a third locus for low-frequency hearing loss

1 reference

12 December 2020

Structure and innervation of the cochlea

1 reference

12 December 2020

Mutation screening of the Wolfram syndrome gene in psychiatric patients

1 reference

12 December 2020

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

12 December 2020

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

1 reference

12 December 2020

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00109-005-0665-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15912360%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

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