(Q54946696)

English

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

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1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. (English)

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

autosomal dominant optic atrophy

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author name string

Nanna D Rendtorff

1

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Marianne Lodahl

2

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Houda Boulahbel

3

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Ida R Johansen

4

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Arti Pandya

5

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Katherine O Welch

6

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Virginia W Norris

7

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Kathleen S Arnos

8

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Maria Bitner-Glindzicz

9

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Sarah B Emery

10

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Marilyn B Mets

11

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Toril Fagerheim

12

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Kristina Eriksson

13

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Lars Hansen

14

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Helene Bruhn

15

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Claes Möller

16

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Sture Lindholm

17

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Stefan Ensgaard

18

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Marci M Lesperance

19

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Lisbeth Tranebjaerg

20

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Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

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publication date

28 April 2011

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Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

American Journal of Medical Genetics

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Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

155A

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Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

6

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Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

1298-1313

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

Multi-system neurological disease is common in patients with OPA1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

RSK is a principal effector of the RAS-ERK pathway for eliciting a coordinate promotile/invasive gene program and phenotype in epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

OPA1-associated disorders: phenotypes and pathophysiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

14 June 2018

Congenital cataracts in two siblings with Wolfram syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3100366

13 August 2018

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538838

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33970

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

1 reference

Europe PubMed Central

13 June 2018

http://europepmc.org/abstract/PMC/3100366

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