Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
نویسندگان
چکیده
منابع مشابه
A critical amino acid residue, asp446, in UDP-glucuronosyltransferase.
An amino acid residue, Asp446, was found to be essential for the enzymic activity of UDP-glucuronosyltransferase (UGT). We obtained a rat phenol UGT (UGT1*06) cDNA (named Ysh) from male rat liver by reverse-transcription (RT)-PCR using pfu polymerase. A mutant Ysh having two different bases, A1337G and G1384A (named Ysh A1337GC1384A), that result in two amino acid substitutions, D446G and V462M...
متن کاملNon-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMI...
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Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These finding...
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Background and Objective: Hearing impairment affects all aspects of a personchr('39')s life. This study aimed to compare executive functions, emotional intelligence, and motivated strategies for learning in adolescents with normal hearing and those with hearing impairment using either hearing aids or cochlear implantation in Tehran, Iran. Materials and Methods: This analytical-comparative stud...
متن کاملMissense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.
PURPOSE AND EXPERIMENTAL DESIGN The mutational spectrum of MADH4 (DPC4/SMAD4) opens valuable insights into the functions of this protein that confer its tumor-suppressive nature in human tumors. We present the MADH4 genetic status determined on a new set of pancreatic, biliary, and duodenal cancers with comparison to the mutational data reported for various tumor types. RESULTS Homozygous del...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2009
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2009.1