(Q36937197)

17 August 2017

Clue to a new deafness gene: a large Chinese nonsyndromic hearing loss family linked to DFNA4. (English)

1 reference

17 August 2017

1 reference

1 reference

Liang Zong

1

1 reference

17 August 2017

Chunye Lu

2

1 reference

17 August 2017

Yali Zhao

3

1 reference

17 August 2017

Qian Li

4

1 reference

17 August 2017

Dongyi Han

5

1 reference

17 August 2017

Weiyan Yang

6

1 reference

17 August 2017

Yan Shen

7

1 reference

17 August 2017

Qingyin Zheng

8

1 reference

17 August 2017

Qiuju Wang

9

1 reference

17 August 2017

16 November 2012

1 reference

Journal of Genetics and Genomics

17 August 2017

1 reference

17 August 2017

39

1 reference

17 August 2017

12

1 reference

17 August 2017

653-657

1 reference

Hereditary hearing loss: from human mutation to mechanism

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

The impact of next-generation sequencing on genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

A chloride conductance in VGLUT1 underlies maximal glutamate loading into synaptic vesicles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Orphan glutamate receptor delta1 subunit required for high-frequency hearing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

An overview of hereditary hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Deafness linked to DFNA2: one locus but how many genes?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Further evidence for a third deafness gene within the DFNA2 locus

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685490

Genetic heterogeneity of deafness phenotypes linked to DFNA4

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23273769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nonsyndromic hereditary hearing loss

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23273769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23273769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JGG.2012.11.002

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23273769

1 reference