Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci.
|
31016883 |
2019 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
|
28695016 |
2017 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
|
26036852 |
2016 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
|
26036852 |
2016 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
BEFREE |
Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosomal recessive nonsyndromic hearing loss (arNSHL) phenotypes, DFNB8 and DFNB10, in terms of residual hearing that may mandate different rehabilitation.
|
24526180 |
2014 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
|
25474651 |
2014 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
|
23958653 |
2013 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
|
23255163 |
2013 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
|
21454591 |
2011 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well.
|
19170735 |
2009 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Of the over 30 reported autosomal recessive nonsyndromic hearing loss (NSHL) loci, the typical phenotype is prelingual non-progressive severe to profound hearing loss with the exception of DFNB8, which displays postlingual onset and DFNB13, which is progressive.
|
12529709 |
2003 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
|
11137999 |
2001 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
|
10950923 |
2000 |