(Q28202754)

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Tomasz Szul

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Takako Sasaki

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Rupert Timpl

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Richard Mayne

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Barrett Hicks

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects

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language of work or name

English

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publication date

October 2003

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published in

Human Genetics

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volume

113

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issue

5

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page(s)

406-16

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cites work

1 reference

12 December 2020

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12 December 2020

ER-associated degradation in protein quality control and cellular regulation

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12 December 2020

The membrane transport factor TAP/p115 cycles between the Golgi and earlier secretory compartments and contains distinct domains required for its localization and function.

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12 December 2020

Non-syndromic autosomal-dominant deafness

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12 December 2020

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9

1 reference

12 December 2020

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.

1 reference

12 December 2020

Histopathology of the inner ear in DFNA9.

1 reference

12 December 2020

Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9

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12 December 2020

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).

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12 December 2020

Nomenclature for the description of human sequence variations

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12 December 2020

Molecular cloning, characterization, and dynamics of rat formiminotransferase cyclodeaminase, a Golgi-associated 58-kDa protein

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12 December 2020

Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.

1 reference

12 December 2020

NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

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12 December 2020

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

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12 December 2020

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

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12 December 2020

Formation, isomerisation and reduction of disulphide bonds during protein quality control in the endoplasmic reticulum

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12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

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12 December 2020

VIT-1: the second member of a new branch of the von Willebrand factor A domain superfamily

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12 December 2020

DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.

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12 December 2020

Transcytosis-associated protein (TAP)/p115 is a general fusion factor required for binding of vesicles to acceptor membranes

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12 December 2020

Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein.

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12 December 2020

Proposed guidelines for papers describing DNA polymorphism-disease associations.

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12 December 2020

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

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12 December 2020