FAQ

DEAFNESS, AUTOSOMAL RECESSIVE 31

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

Topic mentions per year

Topic mentions per year

2002-2017
02420022017

Related topics

Related topics

3 relations
Autosomal recessive inheritanceDFNB31 gene

Broader (1)

Sensorineural Hearing Loss (disorder)

Related mentions per year

Related mentions per year

1940-2018
19401960198020002020
DEAFNESS, AUTOSOMAL RECESSIVE 31
Autosomal recessive inheritance
Sensorineural Hearing Loss (disorder)
DFNB31 gene

Papers overview

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2015
2015
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study… (More)
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2013
2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease… (More)
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2012
2012
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.
Whirlin mutations cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31… (More)
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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… (More)
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2012
2012
Audiological findings in 100 USH2 patients.
Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric… (More)
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2010
2010
Bovine pretransfer endometrium and embryo transcriptome fingerprints as predictors of pregnancy success after embryo transfer.
Aberrant gene expression in the uterine endometrium and embryo has been the major causes of pregnancy failure in cattle. However… (More)
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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… (More)
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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… (More)
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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… (More)
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2003
2003
Stereocilia: the long and the short of it.
Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell… (More)
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