(Q24305234)

GOA release 2020-03-11

hearing

1 reference

Journal of Human Genetics

GOA release 2020-03-11

1 reference

Hisakuni Fukuoka

1

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Yukihiko Kanda

series ordinal

2

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Shuji Ohta

series ordinal

3

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Shin-ichi Usami

series ordinal

4

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language of work or name

English

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publication date

2007

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published in

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volume

52

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issue

6

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page(s)

510-5

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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%2FS10038-007-0144-3

WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells

21 January 2018

1 reference

12 December 2020

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

1 reference

12 December 2020

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

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

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

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

1 reference

12 December 2020

Genetic epidemiology of hearing impairment

1 reference

12 December 2020

Endoplasmic reticulum stress and N-glycosylation modulate expression of WFS1 protein

1 reference

12 December 2020

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

1 reference

12 December 2020

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

1 reference

12 December 2020

[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].

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

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

1 reference

12 December 2020

Making sense of nonsyndromic deafness

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0144-3

7 January 2021