Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
BEFREE |
A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China.
|
30589569 |
2019 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to nonsyndromic hearing loss (NSHL), deafness nonsyndromic autosomal dominant 2 (DFNA2).
|
30556268 |
2019 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
BEFREE |
Once the <i>KCNQ4</i> pathogenic variant has been identified in a family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DFNA2 nonsyndromic hearing loss are possible.
|
29739174 |
2018 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene have been shown to cause a type of deafness referred to as large vestibular aqueduct syndrome (LVAS), whereas mutations in the GJB3 gene have been associated with nonsyndromic deafness.
|
27176802 |
2016 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.
|
25214170 |
2015 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss.
|
24913888 |
2014 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
|
22617145 |
2013 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
|
22617145 |
2013 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GJB2 and SLC26A4 are two major genetic causes, whereas mutations of GJB3 and 12s rRNA result in the development of hearing loss in a small percentage of sporadic nonsyndromic hearing loss cases.
|
22154049 |
2012 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results suggest the variants of GJC3, GJB4, and GJB3 may be the common genetic risk factor, after variants of GJB2, for the development of nonsyndromic HL in Taiwan.
|
20593197 |
2010 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
|
19744334 |
2009 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.
|
18607988 |
2008 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One novel mutation of Cx31 was identified in 3 patients with nonsyndromic deafness (3/62; 4.84%).
|
17259707 |
2007 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
One novel mutation of Cx31 was identified in 3 patients with nonsyndromic deafness (3/62; 4.84%).
|
17259707 |
2007 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.
|
15131355 |
2004 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.
|
15131355 |
2004 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
|
12791041 |
2003 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
|
12630965 |
2003 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
|
11309368 |
2001 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4.
|
10925378 |
2000 |
Nonsyndromic Deafness
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
9843210 |
1998 |
Nonsyndromic Deafness
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|