×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
We established a humanized knock-in mouse model, Myo6-C442Y , to mimic the p.C442Y missense variant identified in human patients with autosomal dominant nonsyndromic hearing loss designated as DFNA22 .
31103816
2019
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
BEFREE
The MYO6 gene, if altered, can cause nonsyndromic hearing loss (NSHL) either in an autosomal dominant (AD) (DFNA22 ) or recessive form.
29607572
2018
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
A Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness.
27171474
2016
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.
25999546
2015
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
25227905
2014
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
25227905
2014
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
Germ-line mutations of the GIPC3 or MYO6 gene cause nonsyndromic hearing loss .
23743496
2013
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
19417007
2009
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
Seven different unconventional myosin genes are involved in ten different types of syndromic and nonsyndromic hearing loss with different patterns of inheritance: MYO7A in DFNA11/DFNB2/USH1B, MYH9 in DFNA17, MYH14 in DFNA4, MYO6 in DFNA22/DFNB37 , MYO3A in DFNB30, MYO1A in DFNA48, and MYO15A in DFNB3.
18348273
2008
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
18348273
2008
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
Myosin VI and VIIa distribution among inner ear epithelia in diverse fishes.
17204383
2007
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
GeneticVariation
disease
BEFREE
MYO6 , the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss .
11468689
2001
×
Entrez Id:
4646
Gene Symbol:
MYO6
MYO6
0.360
Biomarker
disease
CLINGEN
MYO6 , the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss .
11468689
2001