Deafness, Autosomal Recessive 28

Known as: DFNB28 
An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

2006-2017
01220062017

Papers overview

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2018
2018
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit… (More)
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2017
2017
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations… (More)
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2013
2013
TRIOBP is an actin-bundling protein. Mutations of TRIOBP are associated with human deafness DFNB28. In vitro, TRIOBP isoform 4… (More)
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Highly Cited
2010
Highly Cited
2010
Inner ear hair cells detect sound through deflection of mechanosensory stereocilia. Each stereocilium is supported by a… (More)
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2006
2006
In a large consanguineous Palestinian kindred, we previously mapped DFNB28--a locus associated with recessively inherited… (More)
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2006
2006
In seven families, six different mutant alleles of TRIOBP on chromosome 22q13 cosegregate with autosomal recessive nonsyndromic… (More)
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