Published in Hum Mutat on February 01, 2004
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet (2005) 16.79
mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A (2005) 4.66
An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Numt-mediated double-strand break repair mitigates deletions during primate genome evolution. PLoS Genet (2008) 1.25
The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation. BMC Genomics (2006) 1.17
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
Evolutionary analysis of a large mtDNA translocation (numt) into the nuclear genome of the Panthera genus species. Gene (2005) 1.09
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med (2012) 1.06
Chloroplast DNA insertions into the nuclear genome of rice: the genes, sites and ages of insertion involved. Funct Integr Genomics (2007) 1.05
Complete sequences of mitochondria genomes of Aedes aegypti and Culex quinquefasciatus and comparative analysis of mitochondrial DNA fragments inserted in the nuclear genomes. Insect Biochem Mol Biol (2011) 1.02
Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East. BMC Evol Biol (2008) 1.00
The genomic landscape of polymorphic human nuclear mitochondrial insertions. Nucleic Acids Res (2014) 0.97
Cytochrome c oxidase: evolution of control via nuclear subunit addition. Biochim Biophys Acta (2011) 0.97
Mammalian NUMT insertion is non-random. Nucleic Acids Res (2012) 0.97
A comparative approach shows differences in patterns of numt insertion during hominoid evolution. J Mol Evol (2009) 0.96
The RHNumtS compilation: features and bioinformatics approaches to locate and quantify Human NumtS. BMC Genomics (2008) 0.93
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells. Genome Res (2015) 0.87
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants. Biol Chem (2010) 0.86
HvrBase++: a phylogenetic database for primate species. Nucleic Acids Res (2006) 0.83
Specificity of mtDNA-directed PCR-influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques. Int J Legal Med (2007) 0.83
Transcription factors bind negatively selected sites within human mtDNA genes. Genome Biol Evol (2014) 0.82
Polymorphic NumtS trace human population relationships. Hum Genet (2011) 0.81
Mitochondrial pseudogenes in the nuclear genomes of Drosophila. PLoS One (2012) 0.81
Exceptionally high cumulative percentage of NUMTs originating from linear mitochondrial DNA molecules in the Hydra magnipapillata genome. BMC Genomics (2013) 0.80
Retrohoming of a Mobile Group II Intron in Human Cells Suggests How Eukaryotes Limit Group II Intron Proliferation. PLoS Genet (2015) 0.79
Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns. PLoS Genet (2016) 0.76
Initiation of mtDNA transcription is followed by pausing, and diverge across human cell types and during evolution. Genome Res (2017) 0.75
Interference of Co-amplified nuclear mitochondrial DNA sequences on the determination of human mtDNA heteroplasmy by Using the SURVEYOR nuclease and the WAVE HS system. PLoS One (2014) 0.75
Humanin skeletal muscle protein levels increase after resistance training in men with impaired glucose metabolism. Physiol Rep (2016) 0.75
Numtogenesis as a Mechanism for Development of Cancer. Semin Cancer Biol (2017) 0.75
Recent insertion of a 52-kb mitochondrial DNA segment in the wheat lineage. Funct Integr Genomics (2011) 0.75
Extension of murine life span by overexpression of catalase targeted to mitochondria. Science (2005) 10.11
Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A (2002) 6.95
Effects of purifying and adaptive selection on regional variation in human mtDNA. Science (2004) 5.87
The ADP/ATP translocator is not essential for the mitochondrial permeability transition pore. Nature (2004) 5.85
mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A (2005) 4.66
An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51
A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science (2008) 3.95
A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet (2002) 3.71
MITOMAP: a human mitochondrial genome database--2004 update. Nucleic Acids Res (2005) 3.35
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet (2011) 3.16
Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A (2004) 2.77
Platelet cytochrome c oxidase activity and quantity in septic patients. Crit Care Med (2011) 2.23
The basal proton conductance of mitochondria depends on adenine nucleotide translocase content. Biochem J (2005) 2.05
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum Mutat (2006) 1.98
Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster. Nat Genet (2007) 1.98
Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet (2006) 1.97
Data structures and compression algorithms for genomic sequence data. Bioinformatics (2009) 1.96
The mitochondrial theory of aging and its relationship to reactive oxygen species damage and somatic mtDNA mutations. Proc Natl Acad Sci U S A (2005) 1.88
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet (2010) 1.79
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity. PLoS One (2011) 1.73
Functional estrogen receptors in the mitochondria of breast cancer cells. Mol Biol Cell (2006) 1.72
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet (2002) 1.65
The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet (2001) 1.65
Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis. JACC Cardiovasc Imaging (2011) 1.60
Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet (2009) 1.58
Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum. Proc Natl Acad Sci U S A (2003) 1.57
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet (2008) 1.56
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet (2005) 1.54
A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta (2011) 1.52
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab (2009) 1.47
Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS One (2009) 1.36
Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A (2012) 1.35
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One (2010) 1.34
Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene (2006) 1.31
Landscape of the mitochondrial Hsp90 metabolome in tumours. Nat Commun (2013) 1.29
Mitochondrial DNA haplogroups influence AIDS progression. AIDS (2008) 1.29
Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia. Am J Hum Genet (2002) 1.29
Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis. Am J Hum Genet (2002) 1.27
Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci (2009) 1.26
Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2009) 1.24
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. PLoS Genet (2008) 1.24
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord (2009) 1.23
A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci (2008) 1.22
Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene (2005) 1.21
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. Proc Natl Acad Sci U S A (2012) 1.21
Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimers Dis (2010) 1.19
Human mitochondrial haplogroup H: the highest VO2max consumer--is it a paradox? Mitochondrion (2009) 1.18
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. Eur J Hum Genet (2010) 1.15
Association of mitochondrial SOD deficiency with salt-sensitive hypertension and accelerated renal senescence. J Appl Physiol (1985) (2006) 1.15
Text mining functional keywords associated with genes. Stud Health Technol Inform (2004) 1.12
ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter. Mol Biol Cell (2002) 1.11
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy. Biochim Biophys Acta (2012) 1.11
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
Mitochondrial genome diversity in arctic Siberians, with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americas. Am J Hum Genet (2008) 1.10
Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle. J Appl Physiol (1985) (2013) 1.10
Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. PLoS One (2009) 1.07
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med (2012) 1.06
Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci (2005) 1.06
Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging (2010) 1.05
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
Human mitochondrial variants influence on oxygen consumption. Mitochondrion (2008) 1.01
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology (2004) 0.99
Mitochondrial DNA transcription and diseases: past, present and future. Biochim Biophys Acta (2006) 0.99
20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. Biochim Biophys Acta (2008) 0.98
Mitochondrial mutations and polymorphisms in psychiatric disorders. Front Genet (2012) 0.98
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A (2013) 0.97
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion (2010) 0.97
Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration. PLoS One (2013) 0.96
Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations. Biogerontology (2008) 0.95
Mitochondrial DNA diversity in Southeast Asian populations. Hum Biol (2002) 0.94
Adenine nucleotide translocator 1 deficiency increases resistance of mouse brain and neurons to excitotoxic insults. Biochim Biophys Acta (2009) 0.93
MITOCHIP assessment of differential gene expression in the skeletal muscle of Ant1 knockout mice: coordinate regulation of OXPHOS, antioxidant, and apoptotic genes. Biochim Biophys Acta (2008) 0.93
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination. Genes Dev (2012) 0.92
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett (2009) 0.91
CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion (2009) 0.90
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. Ann Neurol (2002) 0.89
Assessment of mitochondrial membrane potential using an on-chip microelectrode in a microfluidic device. Lab Chip (2010) 0.89
Molecular research technologies in mitochondrial diseases: the microarray approach. IUBMB Life (2005) 0.89
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta (2012) 0.89
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain. Invest Clin (2010) 0.88
Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility. Invest Ophthalmol Vis Sci (2005) 0.87
Increased adenine nucleotide translocator 1 in reactive astrocytes facilitates glutamate transport. Exp Neurol (2003) 0.87
Mitochondrial DNA content of human spermatozoa. Biol Reprod (2003) 0.86
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants. Biol Chem (2010) 0.86
Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients. Invest Ophthalmol Vis Sci (2010) 0.86