Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
about
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesionsThe rise of mitochondria in medicineMitochondrial DNA variation in human radiation and diseaseMitochondrial DNA disease and developmental implications for reproductive strategiesBioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases.Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyMitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegansHeteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognitionMito-nuclear co-evolution: the positive and negative sides of functional ancient mutationsMitochondrial sequence variation in African-American primary open-angle glaucoma patientsMitochondrial genomes and exceptional longevity in a Chinese population: the Rugao longevity studyShared and unique signals of high-altitude adaptation in geographically distinct Tibetan populationsHigh altitude medicine in China in the 21st century: opportunities and challenges.Altitude Adaptation: A Glimpse Through Various Lenses.Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns.Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.Genetics of obesity and type 2 diabetes in African Americans.A mitochondrial bioenergetic etiology of disease.Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and diseaseAssociation of the mt-ND2 5178A/C polymorphism with Parkinson's disease.Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits.MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders.Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Point mutations associated with Leber hereditary optic neuropathy in a Latvian populationMT-CYB mutations in hypertrophic cardiomyopathy.Mitochondrial DNA response to high altitude: a new perspective on high-altitude adaptation.Measuring high-altitude adaptation.Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population.Mitochondrial DNA 10609T promotes hypoxia-induced increase of intracellular ROS and is a risk factor of high altitude polycythemia.MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population.Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.The Putative Drp1 Inhibitor mdivi-1 Is a Reversible Mitochondrial Complex I Inhibitor that Modulates Reactive Oxygen Species.The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.High-altitude adaptation in humans: from genomics to integrative physiology.The aetiology of cardiovascular disease: a role for mitochondrial DNA?Ancient Human Migrations to and through Jammu Kashmir- India were not of Males Exclusively.Human Genetic Adaptation to High Altitudes: Current Status and Future Prospects.Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
P2860
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P2860
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@ast
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@en
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@nl
type
label
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@ast
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@en
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@nl
prefLabel
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@ast
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@en
Mitochondrial DNA variant asso ...... hy and high-altitude Tibetans.
@nl
P2093
P2860
P50
P921
P356
P1476
Mitochondrial DNA variant asso ...... thy and high-altitude Tibetans
@en
P2093
Alessia Angelin
Antonio Davila
Douglas C Wallace
Guisheng Qian
Jiancheng Xu
Julia Platt
Leonardo Scherer Alves
Lorna G Moore
Maria Lvova
P2860
P304
P356
10.1073/PNAS.1202484109
P407
P577
2012-04-18T00:00:00Z