Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot.
|
30599039 |
2018 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
|
29620237 |
2018 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
|
29986705 |
2018 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
|
25792668 |
2015 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
|
24875298 |
2014 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Of the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal dominant nonsyndromic hearing loss.
|
25388789 |
2014 |
Nonsyndromic Deafness
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
|
23506231 |
2013 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.
|
24130743 |
2013 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
|
23506231 |
2013 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
|
24164807 |
2013 |
Nonsyndromic Deafness
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Currently, ten point mutations in nonmuscle γ-actin have been identified as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting these ten residues as functionally important to actin structure and/or regulation.
|
22718764 |
2012 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
|
22938506 |
2012 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance.
|
20976199 |
2010 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
|
19548389 |
2009 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Gamma-actin is required for cytoskeletal maintenance but not development.
|
19497859 |
2009 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
|
19477959 |
2009 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
|
18804074 |
2008 |
Nonsyndromic Deafness
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Six point mutations in non-muscle gamma-actin at the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss.
|
16690605 |
2006 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
|
16773128 |
2006 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
|
14684684 |
2003 |
Nonsyndromic Deafness
|
0.330 |
Biomarker
|
disease |
CLINGEN |
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
|
13680526 |
2003 |