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DEAFNESS, AUTOSOMAL RECESSIVE 31

Known as: DFNB31, Whirler, Mouse, Homolog Of 
 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceDFNB31 gene

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
PDZD7-MYO7A complex identified in enriched stereocilia membranes
While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear… Expand
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2016
2016
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia
Summary WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher… Expand
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2015
2015
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in… Expand
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2013
2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Background Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and… Expand
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2012
2012
Non‐USH2A mutations in USH2 patients
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a… Expand
2012
2012
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
PURPOSE Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa… Expand
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Highly Cited
2006
Highly Cited
2006
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… Expand
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2005
2005
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non‐syndromic recessive hearing loss
Approximately 80% of hereditary hearing loss is non‐syndromic. Non‐syndromic deafness is the most genetically heterogeneous trait… Expand
Highly Cited
2003
Highly Cited
2003
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in… Expand
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2002
2002
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a… Expand
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