A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss (Q33952479)

30 July 2017

title

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss (English)

1 reference

30 July 2017

A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss (English)

1 reference

10.1371/JOURNAL.PONE.0021473

DOI

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

6 December 2024

1 reference

6

Jiann-Jou Yang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21731760

6 December 2024

author name string

Wen-Hung Wang

1

1 reference

30 July 2017

Yu-Fan Liu

2

1 reference

30 July 2017

Ching-Chyuan Su

3

1 reference

30 July 2017

Mao-Chang Su

4

1 reference

30 July 2017

Shuan-Yow Li

5

1 reference

30 July 2017

language of work or name

English

0 references

publication date

24 June 2011

1 reference

full work available at URL

30 July 2017

https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0021473&type=printable

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21731760

https://europepmc.org/articles/PMC3123352

6 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21731760

https://europepmc.org/articles/PMC3123352?pdf=render

6 December 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21731760

http://dx.plos.org/10.1371/journal.pone.0021473

6 December 2024

1 reference

10.1371/JOURNAL.PONE.0021473

DOI

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

6 December 2024

1 reference

30 July 2017

volume

6

1 reference

30 July 2017

issue

6

1 reference

30 July 2017

page(s)

e21473

1 reference

Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

24 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

About the use of protein models

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

Gap Junction Systems in the Rat Vestibular Labyrinth: Immunohistochemical and Ultrastructural Analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0021473

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21731760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0021473

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference