(Q34057753)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Eberhard Schneider

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Guy Van Camp

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Richard J Smith

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

E Wilch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

H Azaiez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

R A Fisher

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

J Elfenbein

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

A Murgia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

R Birkenhäger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

H Bolz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

S M Da Silva-Costa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

T Haaf

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

L Hoefsloot

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

H Kremer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

C Kubisch

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

C Le Marechal

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

A Pandya

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

E L Sartorato

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

W Wuyts

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

K H Friderici

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

1 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

267-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Distinct and gradient distributions of connexin26 and connexin30 in the cochlear sensory epithelium of guinea pigs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

GJB2 mutations and degree of hearing loss: a multicenter study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Gap junctional hemichannel-mediated ATP release and hearing controls in the inner ear

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Allele-specific gene expression uncovered

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

5 July 2018

https://pubmed.ncbi.nlm.nih.gov/20236118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

K+ cycling and the endocochlear potential

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

rVista for comparative sequence-based discovery of functional transcription factor binding sites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Gap junction systems in the mammalian cochlea

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

Detection of regulatory variation in mouse genes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2919588

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

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20236118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2010.01387.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

release_gnqxr47i6vesthaxvp4uk2u5am

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gnqxr47i6vesthaxvp4uk2u5am

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236118%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference