Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy - Wikidata - wikimedia - TriplyDB

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

http://www.wikidata.org/entity/Q57721130

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Leber hereditary optic neuropathy: current perspectives The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity Historical perspective on mitochondrial medicine Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier Treatment strategies for inherited optic neuropathies: past, present and future From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation 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 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 Mitochondrial-nuclear epistasis: implications for human aging and longevity.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 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.Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways Inherited mitochondrial optic neuropathies.Reversing mother's curse: selection on male mitochondrial fitness effects.Gene-environment interactions in Leber hereditary optic neuropathy.Leber hereditary optic neuropathy: bad habits, bad vision?Evidence for nuclear modifier gene in mitochondrial cardiomyopathy.Treatment of hereditary optic neuropathies.Mitochondrial optic neuropathies: our travels from bench to bedside and back again.Sex disparities in neuro-ophthalmologic disorders.The X-Linked Hypothesis of Brain Disorders: Can Gender Ratios Tell Us Anything About Cellular Etiology of Neurodegenerative and Psychiatric Diseases?Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic.Idebenone: A Review in Leber's Hereditary Optic Neuropathy.The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.Leber hereditary optic neuropathy: bridging the translational gap.Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.

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P2860

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

http://www.wikidata.org/entity/Q57721130

description

article

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в січні 2008

@uk

name

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@en

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@nl

type

label

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@en

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@nl

prefLabel

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@en

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

@nl

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13816810701867607

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Ophthalmic Genetics

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Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy

@en

P2093

Alfredo A Sadun

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

Solange R Salomao

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Stephen P Daiger

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Suma P Shankar

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Terri A Braun

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Terri M King

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P2860

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

Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse

Strategies for multilocus linkage analysis in humans

The UCSC Genome Browser Database

Leucine-zipper protein, LDOC1, inhibits NF-kappaB activation and sensitizes pancreatic cancer cells to apoptosis

Three autosomal dominant corneal dystrophies map to chromosome 5q

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

LDOC1, a novel MZF-1-interacting protein, induces apoptosis

Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy

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

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17-24

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scholarly article

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10.1080/13816810701867607

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1

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29

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John H. Fingert

Maria Lucia Valentino

Adriana Berezovsky

Valerio Carelli

Rubens Belfort, Jr

Val C Sheffield

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2008-03-01T00:00:00Z

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18363168

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