Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q34269615

about

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions The rise of mitochondria in medicine Mitochondrial DNA variation in human radiation and disease Mitochondrial DNA disease and developmental implications for reproductive strategies Bioenergetics 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 neuropathy Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutations Mitochondrial sequence variation in African-American primary open-angle glaucoma patients Mitochondrial genomes and exceptional longevity in a Chinese population: the Rugao longevity study Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations High 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 disease Association 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 population MT-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.

http://www.wikidata.org/entity/Q34269615

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

P1433

Q34269615-0F5C1882-14DA-4697-9518-6457646A25CD

P1476

Q34269615-4893941E-7A63-412C-A682-AFD9AA60C069

P2093

Q34269615-00AF1471-B7DA-4528-9AD1-BDD00C0949E4

Q34269615-0535680E-8EA3-42DC-92CF-5B7539487D75

Q34269615-09E58CD9-21A0-4F7A-AD76-8017735454AD

Q34269615-1840A3E5-496D-475C-958D-E6BB60BB2BD1

Q34269615-2B6800DE-854C-4B76-830D-5DDDE8543821

Q34269615-2C0C5C5D-5DE9-4CB8-A338-0B5E3D3FDE18

Q34269615-308C69FC-3F86-4E09-A825-D66E162B41EE

Q34269615-3BD66444-D90E-42FF-83F7-39EFC4E87D1E

Q34269615-3C714F33-167F-4306-B9E3-F67EF5E55F9C

Q34269615-5A6B10B5-92EC-441F-9694-985417F260C4

P2860

Q34269615-08D61436-7A6F-4667-8A06-511D22F040C2

Q34269615-0D974167-AAAD-47D6-AEA5-DCBD96F03849

Q34269615-10A74407-C114-454E-AC19-375C5281D11E

Q34269615-18AA687D-B799-401A-8CCA-7BBC010F2267

Q34269615-1CE6A869-3C76-4914-8702-A957AF29AB46

Q34269615-22004EF3-A46D-4394-A985-9216E5E29D04

Q34269615-248AF67C-062E-4C92-A06B-8FBBCB1D5B32

Q34269615-255BCDD7-8FCF-451A-8B41-09C5DDF4BA1D

Q34269615-26A769AA-BB26-44FD-93B1-4348A81DD9DD

Q34269615-2894C704-EF7F-4378-A3C6-5BFC1156572C

P304

Q34269615-BB031406-864A-4D77-ACB6-C0495EB11633

P31

Q34269615-D9161C8D-4019-4476-85FF-1D728D0655B9

P356

Q34269615-DF3EDFD1-BBEF-451B-84DB-D6A335C4EB1A

P407

Q34269615-29506D92-B3A2-413C-8091-0B447E028228

P433

Q34269615-84E33B03-38F1-4318-8F7F-5F00F98E1769

P478

Q34269615-5BAB54A5-1A8E-4725-88C5-BB8C5A6D18CC

P50

Q34269615-125D4716-FC23-4D59-B6E4-E6A9235001EF

Q34269615-BF393452-14E5-4056-9BC9-1D2875BF6E7C

Q34269615-D98F7AEF-F873-4E81-BDBD-1E2191953550

Q34269615-DC6039AD-B62F-4066-84A7-BF97890DA100

P577

Q34269615-28173265-0E7E-47AC-BBE8-0E34A20351A7

P5875

Q34269615-21BB2BCF-AA1C-4658-970B-86D9D50A06CF

P698

Q34269615-18E7034D-09A9-497D-A4D4-52F8E78D9D71

P921

Q34269615-26402785-D85C-43AB-9D16-52574706CE2E

Q34269615-61ADEFF5-955D-4E8D-97A8-CEF6B6A12983

Q34269615-866237d9-44f4-a531-d885-80c2892dfbb3

P932

Q34269615-F0C7D440-F42E-47D7-99AB-82185A653279

P356

PNAS.1202484109

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Mitochondrial DNA variant asso ...... thy and high-altitude Tibetans

@en

P2093

Alessia Angelin

http://www.w3.org/2001/XMLSchema#string

Antonio Davila

http://www.w3.org/2001/XMLSchema#string

Douglas C Wallace

http://www.w3.org/2001/XMLSchema#string

Fuyun Ji

http://www.w3.org/2001/XMLSchema#string

Guisheng Qian

http://www.w3.org/2001/XMLSchema#string

Jiancheng Xu

http://www.w3.org/2001/XMLSchema#string

Julia Platt

http://www.w3.org/2001/XMLSchema#string

Leonardo Scherer Alves

http://www.w3.org/2001/XMLSchema#string

Lorna G Moore

http://www.w3.org/2001/XMLSchema#string

Maria Lvova

http://www.w3.org/2001/XMLSchema#string

P2860

Updating phylogeny of mitochondrial DNA macrohaplogroup m in India: dispersal of modern human in South Asian corridor

Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data

Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences

Natural selection shaped regional mtDNA variation in humans

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m

Sequencing of 50 human exomes reveals adaptation to high altitude

Phylogeographic differentiation of mitochondrial DNA in Han Chinese

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

Strong purifying selection in transmission of mammalian mitochondrial DNA

P304

7391-7396

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P31

scholarly article

P356

10.1073/PNAS.1202484109

http://www.w3.org/2001/XMLSchema#string

P407

P433

19

http://www.w3.org/2001/XMLSchema#string

P478

109

http://www.w3.org/2001/XMLSchema#string

P50

Lee-Ming Chuang

Dimitra Chalkia

P577

2012-04-18T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

224770162

http://www.w3.org/2001/XMLSchema#string

P698

22517755

http://www.w3.org/2001/XMLSchema#string

P921

mitochondrial DNA

P932

3358837

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