A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 28185569)

Published in BMC Bioinformatics on November 08, 2016

Authors

Maria Angela Diroma1, Paolo Lubisco1, Marcella Attimonelli2

Author Affiliations

1: Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, 70126, Italy.
2: Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, 70126, Italy. marcella.attimonelli@uniba.it.

Articles cited by this

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51

The comparative RNA web (CRW) site: an online database of comparative sequence and structure information for ribosomal, intron, and other RNAs. BMC Bioinformatics (2002) 29.41

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) (2012) 20.08

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25

Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res (2009) 12.58

ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res (2013) 9.31

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat (2013) 5.11

tRNAdb 2009: compilation of tRNA sequences and tRNA genes. Nucleic Acids Res (2008) 4.88

An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51

Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (2009) 4.31

MITOMAP: a human mitochondrial genome database--2004 update. Nucleic Acids Res (2005) 3.35

Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat (2009) 3.14

Mitochondrial threshold effects. Biochem J (2003) 2.45

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. Annu Rev Genet (2011) 2.11

MODOMICS: a database of RNA modification pathways. Nucleic Acids Res (2006) 1.95

The diversity present in 5140 human mitochondrial genomes. Am J Hum Genet (2009) 1.90

A Watson-Crick base-pair-disrupting methyl group (m1A9) is sufficient for cloverleaf folding of human mitochondrial tRNALys. Biochemistry (1999) 1.79

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease. EMBO J (2001) 1.77

Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. RNA (2007) 1.72

Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA (2010) 1.40

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs. Nucleic Acids Res (2014) 1.38

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat (2011) 1.33

HmtDB, a genomic resource for mitochondrion-based human variability studies. Nucleic Acids Res (2011) 1.26

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing. Bioinformatics (2014) 1.16

Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases. Proc Jpn Acad Ser B Phys Biol Sci (2010) 1.14

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat (2013) 1.12

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. Mol Genet Metab (2014) 1.10

MitoBamAnnotator: A web-based tool for detecting and annotating heteroplasmy in human mitochondrial DNA sequences. Mitochondrion (2011) 1.08

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs. Wiley Interdiscip Rev RNA (2011) 1.06

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease. Front Genet (2015) 1.05

Modification at position 9 with 1-methyladenosine is crucial for structure and function of nematode mitochondrial tRNAs lacking the entire T-arm. Nucleic Acids Res (2005) 1.05

A novel method for estimating substitution rate variation among sites in a large dataset of homologous DNA sequences. Genetics (2001) 0.96

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest. Hum Genet (2015) 0.89

The estimation of relative site variability among aligned homologous protein sequences. Bioinformatics (2003) 0.87

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants. Hum Mutat (2014) 0.84

Sequence-dependent base-stacking stabilities guide tRNA folding energy landscapes. J Phys Chem B (2013) 0.81

mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets. Hum Mutat (2015) 0.81

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential. Hum Mol Genet (2013) 0.79