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MYO15A wt Allele

Known as: Myosin XV Gene, DFNB3, MYO15 
Human MYO15A wild-type allele is located in the vicinity of 17p11.2 and is approximately 71 kb in length. This allele, which encodes unconventional… 
National Institutes of Health

Related topics

Related topics

6 relations
17p11.2Cell MovementCytokinesisHearing

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of… 
Highly Cited
2012
Highly Cited
2012
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin‐XV, an unconventional myosin critical for the… 
2009
2009
Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus.
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse… 
2009
2009
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL… 
Review
2003
Review
2003
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be… 
Highly Cited
2000
Highly Cited
2000
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other… 
Highly Cited
1999
Highly Cited
1999
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders… 
1999
1999
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
We report the construction of a physical map of the region of mouse chromosome 11 that encompasses shaker-2 (sh2), a model for… 
Highly Cited
1998
Highly Cited
1998
IR-98-039 / April Continuity in Evolution : On the Nature of Transitions
To distinguish continuous from discontinuous evolutionary change, a relation of nearness between phenotypes is needed. Such a… 
Highly Cited
1998
Highly Cited
1998
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Bengkala, Bali, was mapped to a approximately 12… 
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