A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs
暂无分享,去创建一个
[1] Marcella Attimonelli,et al. A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest , 2015, Human Genetics.
[2] Shamsudheen Karuthedath Vellarikkal,et al. mit‐o‐matic: A Comprehensive Computational Pipeline for Clinical Evaluation of Mitochondrial Variations from Next‐Generation Sequencing Datasets , 2015, Human mutation.
[3] Michal Minczuk,et al. Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease , 2015, Front. Genet..
[4] Marcella Attimonelli,et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. , 2015, Molecular genetics and metabolism.
[5] Tommaso Mazza,et al. MitImpact: an Exhaustive Collection of Pre‐computed Pathogenicity Predictions of Human Mitochondrial Non‐synonymous Variants , 2015, Human mutation.
[6] Ernesto Picardi,et al. MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing , 2014, Bioinform..
[7] Tsutomu Suzuki,et al. A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs , 2014, Nucleic acids research.
[8] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[9] Laura C. Greaves,et al. The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential , 2013, Human molecular genetics.
[10] E. Boerwinkle,et al. dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations , 2013, Human mutation.
[11] Joanna Poulton,et al. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease , 2013, Human mutation.
[12] Rongzhong Li,et al. Sequence-dependent base-stacking stabilities guide tRNA folding energy landscapes. , 2013, The journal of physical chemistry. B.
[13] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[14] Francesco Rubino,et al. HmtDB, a genomic resource for mitochondrion-based human variability studies , 2011, Nucleic Acids Res..
[15] Takeo Suzuki,et al. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. , 2011, Annual review of genetics.
[16] Tal Nagar,et al. MitoBamAnnotator: A web-based tool for detecting and annotating heteroplasmy in human mitochondrial DNA sequences. , 2011, Mitochondrion.
[17] Robert W. Taylor,et al. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations , 2011, Human mutation.
[18] Suzuki Tsutomu,et al. Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs , 2011 .
[19] Robert W Taylor,et al. Mitochondrial tRNA mutations and disease , 2010, Wiley interdisciplinary reviews. RNA.
[20] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[21] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[22] Kimitsuna Watanabe. Unique features of animal mitochondrial translation systems , 2010, Proceedings of the Japan Academy. Series B, Physical and biological sciences.
[23] Predrag Radivojac,et al. Automated inference of molecular mechanisms of disease from amino acid substitutions , 2009, Bioinform..
[24] E. Capriotti,et al. Functional annotations improve the predictive score of human disease‐related mutations in proteins , 2009, Human mutation.
[25] Ricardo Rocha,et al. The diversity present in 5140 human mitochondrial genomes. , 2009, American journal of human genetics.
[26] Peter F. Stadler,et al. tRNAdb 2009: compilation of tRNA sequences and tRNA genes , 2008, Nucleic Acids Res..
[27] Joern Pütz,et al. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. , 2007, RNA.
[28] Pierre Baldi,et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny , 2006, Nucleic Acids Res..
[29] Marcin Feder,et al. MODOMICS: a database of RNA modification pathways , 2005, Nucleic Acids Res..
[30] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[31] Masayuki Sakurai,et al. Modification at position 9 with 1-methyladenosine is crucial for structure and function of nematode mitochondrial tRNAs lacking the entire T-arm , 2005, Nucleic acids research.
[32] Shamkant B. Navathe,et al. MITOMAP: a human mitochondrial genome database—2004 update , 2004, Nucleic Acids Res..
[33] Graziano Pesole,et al. The estimation of relative site variability among aligned homologous protein sequences , 2003, Bioinform..
[34] Jean-Pierre Mazat,et al. Mitochondrial threshold effects. , 2003, The Biochemical journal.
[35] S. Antonarakis,et al. Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2002, Human mutation.
[36] Nan Yu,et al. The Comparative RNA Web (CRW) Site: an online database of comparative sequence and structure information for ribosomal, intron, and other RNAs , 2002, BMC Bioinformatics.
[37] T Yasukawa,et al. Wobble modification defect in tRNA disturbs codon–anticodon interaction in a mitochondrial disease , 2001, The EMBO journal.
[38] G. Pesole,et al. A novel method for estimating substitution rate variation among sites in a large dataset of homologous DNA sequences. , 2001, Genetics.
[39] R Giegé,et al. A Watson-Crick base-pair-disrupting methyl group (m1A9) is sufficient for cloverleaf folding of human mitochondrial tRNALys. , 1999, Biochemistry.
[40] Tsutomu Suzuki,et al. Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs , 2011, Wiley interdisciplinary reviews. RNA.
[41] K. Pollard,et al. Detection of nonneutral substitution rates on mammalian phylogenies. , 2010, Genome research.