(Q51995942)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

title

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

main subject

nonsyndromic deafness

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

author name string

Jiann-Jou Yang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Kvei-Hsiu Chou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Pei-Ju Liao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Ching-Chyuan Su

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Shuan-Yow Li

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

publication date

25 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

Audiology and Neuro-Otology

24 December 2019

published in

1 reference

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24 December 2019

volume

12

1 reference

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24 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

page(s)

198-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17259707%20AND%20SRC:MED&resulttype=core&format=json

Prevalent connexin 26 gene (GJB2) mutations in Japanese

24 December 2019

cites work

1 reference

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 January 2018

1 reference

Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

Heteromeric connexons formed by the lens connexins, connexin43 and connexin56.

21 January 2018

1 reference

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

21 January 2018

1 reference

Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear.

21 January 2018

1 reference

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

21 January 2018

1 reference

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

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

21 January 2018

1 reference

Gap junctions: structure and function (Review).

21 January 2018

1 reference

Functional analysis of human cardiac gap junction channel mutants

21 January 2018

1 reference

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

21 January 2018

1 reference

The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein

21 January 2018

1 reference

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

21 January 2018

1 reference

Formation of heteromeric gap junction channels by connexins 40 and 43 in vascular smooth muscle cells

21 January 2018

1 reference

Heteromeric connexons in lens gap junction channels

21 January 2018

1 reference

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

Connexin43 pseudogene is expressed in tumor cells and inhibits growth

21 January 2018

1 reference

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

21 January 2018

1 reference

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

21 January 2018

1 reference

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

21 January 2018

1 reference

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

21 January 2018

1 reference

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

21 January 2018

1 reference

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

21 January 2018

1 reference

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

21 January 2018

1 reference

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

21 January 2018

1 reference

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

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

21 January 2018

1 reference

Genetics, genomics and gene discovery in the auditory system

21 January 2018

1 reference

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

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

21 January 2018

1 reference

Connexin26 mutations associated with nonsyndromic hearing loss.

21 January 2018

1 reference

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

21 January 2018

1 reference

Connexin mutations in hearing loss, dermatological and neurological disorders.

21 January 2018

1 reference

Cardiac malformation in neonatal mice lacking connexin43.

21 January 2018

1 reference

The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

21 January 2018

1 reference

Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

21 January 2018

1 reference

Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes

21 January 2018

1 reference

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.

21 January 2018

1 reference

High frequency hearing loss correlated with mutations in the GJB2 gene.

21 January 2018

1 reference

Expression of connexin 31 in the developing mouse cochlea.

21 January 2018

1 reference

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea.

21 January 2018

1 reference

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

21 January 2018

1 reference