Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. (Q37219051)

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11 November 2019

case report

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title

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

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11 November 2019

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11 November 2019

Robert J. Morell

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11 November 2019

Richard J Smith

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Thomas B Friedman

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Saima Riazuddin

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Sheikh Riazuddin

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Dilip Deshmukh

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11 November 2019

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Arabandi Ramesh

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11 November 2019

Srikumari Srisailpathy

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object named as

Srikumari Srisailpathy

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11 November 2019

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David C Kohrman

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11 November 2019

author name string

Chantal M Giguere

2

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11 November 2019

Kristina L Mitchem

4

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11 November 2019

Andrew J Griffith

11

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Edward R Wilcox

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language of work or name

English

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publication date

24 July 2002

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American Journal of Human Genetics

11 November 2019

published in

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volume

71

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11 November 2019

issue

3

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11 November 2019

page(s)

632-636

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Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

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

6 September 2017

1 reference

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Molecular genetics of hearing loss

6 September 2017

1 reference

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Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

The genome sequence of Drosophila melanogaster

6 September 2017

1 reference

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Interpreting cDNA sequences: some insights from studies on translation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Inherited hearing defects in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

Early diagnosis of Usher syndrome in infants and children.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379198

3 September 2018

Identifiers

DOI

10.1086/342193

1 reference

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11 November 2019

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11 November 2019

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