(Q36200344)

12 August 2017

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment (English)

1 reference

12 August 2017

1 reference

Nele Hilgert

1

1 reference

12 August 2017

Kelly Monahan

2

1 reference

12 August 2017

Kiyoto Kurima

3

1 reference

12 August 2017

Cindy Li

4

1 reference

12 August 2017

Rick A Friedman

5

1 reference

12 August 2017

Andrew J Griffith

6

1 reference

12 August 2017

Guy Van Camp

7

1 reference

12 August 2017

30 January 2009

1 reference

Journal of Human Genetics

12 August 2017

1 reference

12 August 2017

54

1 reference

12 August 2017

3

1 reference

12 August 2017

188-190

1 reference

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

A simple salting out procedure for extracting DNA from human nucleated cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431155

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19180119

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2009.1

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

19180119

1 reference