Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India (Q47142967)

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scientific article published in April 2017

Language	Label	Description	Also known as
English	Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India	scientific article published in April 2017

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India (English)

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

transmembrane protein

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

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based on heuristic

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author name string

Pawan Kumar Singh

1

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Manju Ghosh

2

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Shipra Sharma

3

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Shivaram Shastri

4

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Neerja Gupta

5

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Madhumita Roy Chowdhury

6

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Anuranjan Anand

7

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Madhulika Kabra

8

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

language of work or name

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publication date

1 April 2017

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

Indian Journal of Medical Research

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

145

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

4

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

492-497

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

1 reference

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23 May 2018

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

1 reference

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23 May 2018

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Genetics of deafness in India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

23 May 2018

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

16 June 2018

Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

15 August 2018

Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

15 August 2018

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

15 August 2018

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5663163

15 August 2018

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

1 reference

https://pubmed.ncbi.nlm.nih.gov/28862181

12 December 2020

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 January 2018

http://europepmc.org/abstract/PMC/5663163

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