Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. (Q50451078)

14 March 2018

title

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. (English)

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14 March 2018

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10

Cor W R J Cremers

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Hannie Kremer

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Hannie Kremer

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Ronald J Admiraal

7

Ronald Admiraal

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Rob W J Collin

1

Rob W J Collin

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Jaap Oostrik

3

Jaap Oostrik

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Tim M Strom

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Tim M Strom

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14 March 2018

Patrick L M Huygen

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Patrick L Huygen

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Arjan P M de Brouwer

8

Arjan P M de Brouwer

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14 March 2018

Robert-Jan Pauw

4

Robert-Jan Pauw

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Rutger F Plantinga

5

Rutger F Plantinga

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Anne-Martine R de Heer

2

Anne-Martine R de Heer

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14 March 2018

publication date

25 June 2008

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European Journal of Human Genetics

published in

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14 March 2018

volume

16

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issue

12

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14 March 2018

page(s)

1430-1436

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14 March 2018

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss

cites work

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A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

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The regulation of splice-site selection, and its role in human disease

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Common themes in the function of transcription and splicing enhancers

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https://api.crossref.org/works/10.1038%2FEJHG.2008.110

The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system

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Polypeptide composition of the mammalian tectorial membrane

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A deafness mutation isolates a second role for the tectorial membrane in hearing

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A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback.

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Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

21 January 2018

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An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

21 January 2018

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Distinctive audiometric profile associated with DFNB21 alleles of TECTA

21 January 2018

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

21 January 2018

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Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss

21 January 2018

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Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

21 January 2018

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Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

21 January 2018

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Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes

21 January 2018

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A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.110

Chick alpha-tectorin: molecular cloning and expression during embryogenesis

21 January 2018

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Clinical aspects of hereditary hearing loss.

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.110

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.110

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14 March 2018

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14 March 2018