Functional Recurrent Mutations in the Human Mitochondrial Phylogeny: Dual Roles in Evolution and Disease

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

(2012) Doron M. Behar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

(2012) F. Ji et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Co-Evolution of Mitochondrial tRNA Import and Codon Usage Determines Translational Efficiency in the Green Alga Chlamydomonas

(2012) Thalia Salinas et al.   PLoS Genetics

Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity

(2011) Luísa Pereira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial-nuclear co-evolution and its effects on OXPHOS activity and regulation

(2011) Dan Bar-Yaacov et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

The Human Mitochondrial Transcriptome

(2011) Tim R. Mercer et al.   CELL

Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude

(2011) Mingliang Gu et al.   GENE

Evolutionary Patterns of the Mitochondrial Genome in Metazoa: Exploring the Role of Mutation and Selection in Mitochondrial Protein–Coding Genes

(2011) S. Castellana et al.   Genome Biology and Evolution

Mitochondrial Haplogroup X is associated with successful aging in the Amish

(2011) Monique D. Courtenay et al.   HUMAN GENETICS

‘Progress’ renders detrimental an ancient mitochondrial DNA genetic variant

(2011) David Pacheu-Grau et al.   HUMAN MOLECULAR GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

(2011) K. Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Evolution and disease converge in the mitochondrion

(2010) D. Mishmar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Coevolution Predicts Direct Interactions between mtDNA-Encoded and nDNA-Encoded Subunits of Oxidative Phosphorylation Complex I

(2010) Moran Gershoni et al.   JOURNAL OF MOLECULAR BIOLOGY

Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation

(2010) Minglian Zhang et al.   MOLECULAR GENETICS AND METABOLISM

Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

(2009) Min Liang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mitochondrial bioenergetics as a major motive force of speciation

(2009) Moran Gershoni et al.   BIOESSAYS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

(2009) Barbara Kofler et al.   BMC Medical Genetics

NOVEL MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH CHINESE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

(2009) Yan-Ling Wei et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

mtDNA mutation pattern in tumors and human evolution are shaped by similar selective constraints

(2009) I. Zhidkov et al.   GENOME RESEARCH

Mitochondrial haplogroups associated with Japanese centenarians, Alzheimer's patients, Parkinson's patients, type 2 diabetic patients and healthy non-obese young males

(2009) Shigeru Takasaki   Journal of Genetics and Genomics

Mitochondrial tRNAGlu A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family

(2009) Yu Ding et al.   Journal of Genetics and Genomics

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation

(2009) Jianxin Lu et al.   MITOCHONDRION

FastTree: Computing Large Minimum Evolution Trees with Profiles instead of a Distance Matrix

(2009) M. N. Price et al.   MOLECULAR BIOLOGY AND EVOLUTION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

(2009) A. W. Briggs et al.   SCIENCE

Ancient mtDNA Genetic Variants Modulate mtDNA Transcription and Replication

(2009) Sarit Suissa et al.   PLoS Genetics

Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees

(2008) Bobei Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations

(2008) Elena Domínguez-Garrido et al.   BIOGERONTOLOGY

Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications

(2008) Jeanette Feder et al.   BMC GENOMICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families

(2008) Xinjian Wang et al.   Pharmacogenetics and Genomics

Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration

(2008) Jeffrey A. Canter et al.   PLoS One