Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder - Wikidata - awgldk - TriplyDB

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

http://www.wikidata.org/entity/Q24538459

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Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background Mitochondrial genetics Leber hereditary optic neuropathy: current perspectives A neurodegenerative perspective on mitochondrial optic neuropathies The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes.Treatment strategies for inherited optic neuropathies: past, present and future Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Profiling the mitochondrial proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: down-regulation of bioenergetics and mitochondrial protein quality control pathways in fibroblasts with the 11778G>A mutation The optic nerve: a "mito-window" on mitochondrial neurodegeneration The neuro-ophthalmology of mitochondrial disease Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutations Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.LHON: Mitochondrial Mutations and More.Epigenetics, epidemiology and mitochondrial DNA diseases.Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.Mitochondrion and its related disorders: making a comeback Mitochondrial Involvement in Vertebrate Speciation? The Case of Mito-nuclear Genetic Divergence in Chameleons.Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications.Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy.Inherited mitochondrial optic neuropathies.Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.Gene-environment interactions in Leber hereditary optic neuropathy.Leber hereditary optic neuropathy: bad habits, bad vision?The inheritance of pathogenic mitochondrial DNA mutations.The mitochondrial brain: From mitochondrial genome to neurodegeneration

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P2860

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

http://www.wikidata.org/entity/Q24538459

description

2005 nî lūn-bûn

@nan

2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2005年の論文

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2005年論文

@yue

2005年論文

@zh-hant

2005年論文

@zh-hk

2005年論文

@zh-mo

2005年論文

@zh-tw

2005年论文

@wuu

name

Identification of an X-chromos ...... f a mitochondrial DNA disorder

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Identification of an X-chromos ...... f a mitochondrial DNA disorder

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Identification of an X-chromos ...... f a mitochondrial DNA disorder

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type

label

Identification of an X-chromos ...... f a mitochondrial DNA disorder

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Identification of an X-chromos ...... f a mitochondrial DNA disorder

@en

Identification of an X-chromos ...... f a mitochondrial DNA disorder

@nl

prefLabel

Identification of an X-chromos ...... f a mitochondrial DNA disorder

@ast

Identification of an X-chromos ...... f a mitochondrial DNA disorder

@en

Identification of an X-chromos ...... f a mitochondrial DNA disorder

@nl

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American Journal of Human Genetics

P1476

Identification of an X-chromos ...... f a mitochondrial DNA disorder

@en

P2093

Eeva Nikoskelainen

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Franco Carrara

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Gavin Hudson

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Hubert J M Smeets

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I F M de Coo

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Kirsi Huoponen

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Liesbeth Spruijt

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Marja-Liisa Savontaus

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

Philip Griffiths

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Sharon Keers

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P2860

The epidemiology of Leber hereditary optic neuropathy in the North East of England

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

Genomic imprinting: implications for human disease.

Population choice in mapping genes for complex diseases.

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers.

Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.

Rett syndrome: the complex nature of a monogenic disease.

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

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1086-91

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scholarly article

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3248825

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P356

10.1086/498176

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P433

6

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P478

77

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P50

Massimo Zeviani

Patrick Yu-Wai-Man

Patrick F. Chinnery

P577

2005-12-01T00:00:00Z

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P5875

7390315

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P698

16380918

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P921

mitochondrial DNA

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1285165

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