Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
about
Autosomal recessive nonsyndromic deafness genes: a reviewGenetics of hearing and deafnessNovel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese familyTMC function in hair cell transductionGenomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese familyGenetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Copy number variants are a common cause of non-syndromic hearing lossA novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsMutations of TMC1 cause deafness by disrupting mechanoelectrical transductionMutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.Deafness gene expression patterns in the mouse cochlea found by microarray analysisA patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case reportRecessive mutations of TMC1 associated with moderate to severe hearing loss.Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Emerging Gene Therapies for Genetic Hearing Loss.Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
P2860
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P2860
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
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2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
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2008年论文
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2008年论文
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name
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@ast
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@en
type
label
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@ast
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@en
prefLabel
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@ast
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@en
P2093
P2860
P50
P1433
P1476
Mutation analysis of TMC1 iden ...... ne at loci DFNA36 and DFNB7/11
@en
P2093
D Goossens
E Pandelia
J D Favero
M B Petersen
N Dieltjens
P2860
P304
P356
10.1111/J.1399-0004.2008.01053.X
P577
2008-07-09T00:00:00Z