Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. - Wikidata - wikimedia - TriplyDB

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

http://www.wikidata.org/entity/Q43232491

about

Multi-system neurological disease is common in patients with OPA1 mutations Gimap3 regulates tissue-specific mitochondrial DNA segregation Transmission of mitochondrial DNA diseases and ways to prevent them.Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.Universal heteroplasmy of human mitochondrial DNA.Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood Pathogenic mitochondrial DNA mutations are common in the general population Evolution of Cell-to-Cell Variability in Stochastic, Controlled, Heteroplasmic mtDNA Populations.The inheritance of pathogenic mitochondrial DNA mutations.Evaluation for secondary causes of headache: the role of blood and urine testing.Insight into mammalian mitochondrial DNA segregation.Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality

P2860

Q24619312-8F58D6B2-5278-490B-A4CB-5F1B097966D4 Q28585352-CCABB99D-87F4-45F1-9D36-CDC9611AECE3 Q33658696-88843D0F-595F-416A-8A00-EBCB8B66A629 Q33666825-79C0B445-4EA0-496F-B3E4-23F0F6CC5A22 Q33994112-3BB8002E-5707-4D16-8326-F6C0CC9E2F3D Q34368460-3AA55167-4B3C-4F88-8C91-83A9754EDC58 Q35208474-00BCAFA2-75D1-496F-9F7F-A2EBEEB46968 Q35946532-F5CF61AC-7EC0-40FD-AEB6-FF9B6F476FD2 Q36069669-33F9F3F4-8FBF-4FF6-AFD3-6CD15A53D7B5 Q36181516-CFF5FB2C-E98F-4E94-A2BC-8FF5005657D7 Q36477684-5B2CAF6B-A285-43CF-B89E-2C27B2F3C862 Q36719116-AD97CB89-0F9B-449F-AFA2-4E24193F1669 Q36808847-D2F177EA-BE40-4681-9027-1B8380C477B9 Q37396906-1154EED7-1EB8-4301-BBFC-9B3F09EB40DF Q37419954-6FEFEB95-AE02-437B-B5CB-3EC3658460C2 Q37834038-1ED623B8-1A95-4532-A4E3-16BE4F33C192 Q38024833-40C684C6-69EF-47D8-8034-15CA5D3A7235 Q43166552-2AABD598-CB4C-4459-B34E-EFFC239F2857 Q55482857-AC8C2385-CF45-4419-B251-D1C6652B5078 Q58795970-EE8320AF-0466-4258-89FD-1060AE7A0AF0

P2860

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

http://www.wikidata.org/entity/Q43232491

description

2006 nî lūn-bûn

@nan

2006年の論文

@ja

2006年学术文章

@wuu

2006年学术文章

@zh

2006年学术文章

@zh-cn

2006年学术文章

@zh-hans

2006年学术文章

@zh-my

2006年学术文章

@zh-sg

2006年學術文章

@yue

2006年學術文章

@zh-hant

name

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@en

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@nl

type

label

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@en

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@nl

prefLabel

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@en

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@nl

P1433

Q43232491-6A83B135-01DC-41EC-9440-BA58D04AF525

P1476

Q43232491-99C8AB48-9495-4407-8862-1F47B102FE29

P2093

Q43232491-18B4FAB5-7F5B-41A9-AEB5-3F1BFED2FC73

Q43232491-4566E9D0-4FF1-456D-A646-FF451921D4EE

Q43232491-598DA282-8DAF-4249-AA06-94F14ADD11DA

Q43232491-9B0DEE8C-8F15-419E-A4C0-E7334620AB0C

P2860

Q43232491-2D828560-9D6B-41B2-913C-07FDAC19C331

Q43232491-42BDB2AC-4298-4BE6-B962-369446639C54

Q43232491-56854AF5-BB16-4EA2-A3CE-3CB2A49C0646

Q43232491-56AB0920-7011-4DEC-8CE8-78EA17A4B1A3

Q43232491-5F45E143-3D78-4C49-915A-C781F85E12EE

Q43232491-66699675-65C1-4FD1-A612-A3814053C8ED

Q43232491-6FDA33BF-5560-4E1D-A56A-C9660C27F86E

Q43232491-82ADE5FF-BDFD-4FD3-BBB9-EF33741A95AC

Q43232491-831B12A9-E704-4674-839A-1CF848A9E447

Q43232491-854A8CA5-D30F-434C-A8BD-03E7977E38D6

P304

Q43232491-DD2E0D8A-AF42-4B96-B6CE-071DE64F8DB0

P31

Q43232491-0b5ecba6-0da7-40e8-a01f-e51bcbe9e832

Q43232491-3033811E-EC3E-471F-A7B1-D6357A525A4B

P356

Q43232491-8FE0206E-9EA2-46DC-84DD-F7A22DA11726

P407

Q43232491-4A30C65A-1574-4190-B297-61105E96AFA6

P433

Q43232491-F1C56ED5-1C40-40D6-A4FB-8F80D4AAB96F

P478

Q43232491-6587026B-2D65-4AFC-997D-8775D575FE00

P50

Q43232491-5C1E4AD1-E4DA-4110-9B5D-A879F7683F08

Q43232491-D8FA9B0B-64EA-4138-BE61-333B3EDF9A8D

Q43232491-FCF7106D-958C-4CDC-A1AF-EE2070421D1E

P577

Q43232491-C8BACC80-113B-4429-B2C0-2FD56B055450

P5875

Q43232491-F4039F01-C3F0-4333-BE56-EC839830D9A8

P698

Q43232491-70E1B05E-BA01-4EA4-857C-6421DD85329C

P921

Q43232491-C1A455A6-8A7B-4DB5-9889-2C3AE53B5DC9

P932

Q43232491-446D2BF2-C041-4DC8-AC08-A94D4DF1E0C7

P356

JMG.2006.043109

P1433

Journal of Medical Genetics

P1476

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

@en

P2093

Andrew M Schaefer

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

Marcus Deschauer

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

Robert W Taylor

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

Steve E Durham

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

P2860

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids.

mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number.

Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein.

MELAS: clinical features, biochemistry, and molecular genetics.

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

P304

69-74

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

P31

scholarly article

P356

10.1136/JMG.2006.043109

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

P407

P433

1

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

P478

44

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

P50

David C. Samuels

Patrick F. Chinnery

P577

2006-09-01T00:00:00Z

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

P5875

6838789

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

P698

16950816

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

P921

mitochondrial DNA

P932

2597915

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