A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family
出版年份 2014 全文链接
标题
A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family
作者
关键词
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出版物
PLoS One
Volume 9, Issue 5, Pages e97064
出版商
Public Library of Science (PLoS)
发表日期
2014-05-15
DOI
10.1371/journal.pone.0097064
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population
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- TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear
- (2013) Bifeng Pan et al. NEURON
- Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes
- (2011) Yoshiyuki Kawashima et al. JOURNAL OF CLINICAL INVESTIGATION
- Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
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- Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1
- (2010) Anne-Martine R. de Heer et al. AUDIOLOGY AND NEURO-OTOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- A novel mutation adjacent to theBthmouse mutation in theTMC1gene makes this mouse an excellent model of human deafness at the DFNA36 locus
- (2010) T Yang et al. CLINICAL GENETICS
- High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
- (2010) Mariem Ben Saïd et al. Genetic Testing and Molecular Biomarkers
- Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey
- (2010) Duygu Duman et al. Genetic Testing and Molecular Biomarkers
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
- (2009) N Hilgert et al. CLINICAL GENETICS
- Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
- (2009) Aslı Sırmacı et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
- (2009) Nele Hilgert et al. JOURNAL OF HUMAN GENETICS
- SOAP: short oligonucleotide alignment program
- (2008) R. Li et al. BIOINFORMATICS
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