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DEAFNESS, AUTOSOMAL RECESSIVE 31
Known as:
DFNB31
, Whirler, Mouse, Homolog Of
National Institutes of Health
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Related topics
Related topics
3 relations
Autosomal recessive inheritance
DFNB31 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
C. Morgan
,
J. F. Krey
,
+7 authors
P. Barr-Gillespie
eLife
2016
Corpus ID: 25107900
While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear…
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2016
2016
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia
Seham Ebrahim
,
N. Ingham
,
+5 authors
K. Steel
Cell Reports
2016
Corpus ID: 9214662
2015
2015
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
P. Mathur
,
J. Zou
,
+8 authors
Jun Yang
Human Molecular Genetics
2015
Corpus ID: 17831443
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in…
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2013
2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
G. García-García
,
T. Besnard
,
+6 authors
A. Roux
Molecular Vision
2013
Corpus ID: 17122057
Background Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and…
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2012
2012
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
R. Wright
,
D. Hong
,
B. Perkins
Investigative Ophthalmology and Visual Science
2012
Corpus ID: 45352221
PURPOSE Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa…
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Highly Cited
2012
Highly Cited
2012
Non‐USH2A mutations in USH2 patients
T. Besnard
,
C. Vaché
,
+17 authors
A. Roux
Human Mutation
2012
Corpus ID: 24397780
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a…
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Highly Cited
2007
Highly Cited
2007
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
I. Ebermann
,
H. Scholl
,
+7 authors
H. Bolz
Human Genetics
2007
Corpus ID: 22632047
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction…
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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
A. Tlili
,
I. Charfedine
,
+7 authors
H. Ayadi
Human Mutation
2005
Corpus ID: 28092113
Approximately 80% of hereditary hearing loss is non‐syndromic. Non‐syndromic deafness is the most genetically heterogeneous trait…
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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
P. Mburu
,
M. Mustapha
,
+21 authors
Steve D. M. Brown
Nature Genetics
2003
Corpus ID: 39603776
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in…
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2002
2002
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
M. Mustapha
,
E. Chouery
,
+8 authors
C. Petit
European Journal of Human Genetics
2002
Corpus ID: 7740628
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a…
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