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Deafness, Autosomal Dominant 9

Known as: DFNA9 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal dominant inheritanceCOCH, CYS542PHESuperior semicircular canal dehiscence (SCCD)Vertigo

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
Mutations in COCH (coagulation factor C homology) are etiologic for the late-onset, progressive, sensorineural hearing loss and… 
Highly Cited
2006
Highly Cited
2006
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene… 
Highly Cited
2005
Highly Cited
2005
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site‐specific vestibular and…
Mutations within the COCH gene (encoding the cochlin protein) lead to auditory and vestibular impairment in the DFNA9 disorder… 
Review
2002
Review
2002
Hereditary deafness and phenotyping in humans.
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non… 
Highly Cited
2001
Highly Cited
2001
Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein.
Highly Cited
1999
Highly Cited
1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying… 
Highly Cited
1999
Highly Cited
1999
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
We report the genetic analysis of one large Belgian and two small Dutch families with autosomal dominant non-syndromic… 
Highly Cited
1998
Highly Cited
1998
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
DFNA9 is an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology. Here we report… 
Highly Cited
1997
Highly Cited
1997
Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.
Previously we identified a partial human cDNA for a novel cochlear transcript, hCoch-5B2 (HGMW-approved symbol D14S564E), using… 
Highly Cited
1996
Highly Cited
1996
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to… 
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