(Q28478877)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Nancy Yaneth Gelvez

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Juan Rodriguez-Paris

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Iris Schrijver

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

language of work or name

English

0 references

publication date

29 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

e21665

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

7 February 2020

copyright license

start time

29 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

Gap junctions and cochlear homeostasis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

Epigenetic regulation of gap junctional intercellular communication: more than a way to keep cells quiet?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021665

Design and testing of beta-actin primers for RT-PCR that do not co-amplify processed pseudogenes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3126855

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

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21738759

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/21738759

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0021665

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

ADS bibcode

2011PLoSO...621665R

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21738759%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

21738759

2 references