(Q34658405)

3 August 2017

0 references

Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele (English)

1 reference

3 August 2017

Ellen Wilch

1

1 reference

3 August 2017

Mei Zhu

2

1 reference

3 August 2017

Kirk B Burkhart

3

1 reference

3 August 2017

Martha Regier

4

1 reference

3 August 2017

Jill L Elfenbein

5

1 reference

3 August 2017

Rachel A Fisher

6

1 reference

3 August 2017

Karen H Friderici

7

1 reference

3 August 2017

language of work or name

English

0 references

publication date

17 May 2006

1 reference

American Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

79

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

174-179

1 reference

GJB2 mutations and degree of hearing loss: a multicenter study

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

On a chromosome far, far away: LCRs and gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

K+ cycling and the endocochlear potential

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Gap junction systems in the mammalian cochlea

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Mapping and characterization of the basal promoter of the human connexin26 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Upstream genomic sequence of the human connexin26 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

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.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474119

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

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16773579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A simple PCR test to detect the common 35delG mutation in the connexin 26 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16773579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/505333

1 reference

3 August 2017

1 reference

3 August 2017

1 reference