A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
暂无分享,去创建一个
[1] B. Kerem,et al. The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells , 2007, European Journal of Human Genetics.
[2] G. Mortier,et al. qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data , 2007, Genome Biology.
[3] Xinbin Chen,et al. Myosin VI Is a Mediator of the p53-Dependent Cell Survival Pathway , 2006, Molecular and Cellular Biology.
[4] P. Selvin,et al. Full-length myosin VI dimerizes and moves processively along actin filaments upon monomer clustering. , 2006, Molecular cell.
[5] Thangavel Alphonse Thanaraj,et al. ASD: a bioinformatics resource on alternative splicing , 2005, Nucleic Acids Res..
[6] Tom H. Lindner,et al. easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses , 2005, Bioinform..
[7] M. Bownes,et al. Myosin VI plays a role in cell–cell adhesion during epithelial morphogenesis , 2004, Mechanisms of Development.
[8] Piero Fariselli,et al. ConSeq: the identification of functionally and structurally important residues in protein sequences , 2004, Bioinform..
[9] L. Fananapazir,et al. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6) , 2004, Journal of Medical Genetics.
[10] L. Fananapazir,et al. Mutations of MYO6 are associated with recessive deafness, DFNB37. , 2003, American journal of human genetics.
[11] F. Speleman,et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes , 2002, Genome Biology.
[12] Michael Q. Zhang,et al. Computational identification of promoters and first exons in the human genome , 2001, Nature Genetics.
[13] X. Estivill,et al. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. , 2001, American journal of human genetics.
[14] Heinrich Niemann,et al. Joint modeling of DNA sequence and physical properties to improve eukaryotic promoter recognition , 2001, ISMB.
[15] Steen Knudsen,et al. Promoter2.0: for the recognition of PolII promoter sequences , 1999, Bioinform..
[16] V. Thomson. The Colorado Newborn Hearing Screening Project , 1997 .
[17] N. Copeland,et al. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. , 1997, Human molecular genetics.
[18] E. Lander,et al. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.
[19] D. S. Prestridge. Predicting Pol II promoter sequences using transcription factor binding sites. , 1995, Journal of molecular biology.
[20] D. Cooper,et al. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences , 1992, Human Genetics.
[21] Frank Speleman,et al. Real-time quantitative PCR as an alternative to Southern blot or fluorescence in situ hybridization for detection of gene copy number changes. , 2007, Methods in molecular biology.
[22] Vladimir B. Bajic,et al. Dragon Promoter Finder: recognition of vertebrate RNA polymerase II promoters , 2002, Bioinform..
[23] Kenta Nakai,et al. DBTSS: DataBase of human Transcriptional Start Sites and full-length cDNAs , 2002, Nucleic Acids Res..
[24] S Rozen,et al. Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.
[25] Karen P. Steel,et al. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells , 1995, Nature Genetics.