Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
about
Genetics of Nonsyndromic Congenital Hearing LossCharacterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.DNA Methylation Patterns Can Estimate Nonequivalent Outcomes of Breast Cancer with the Same Receptor Subtypes.SHIELD: an integrative gene expression database for inner ear research.Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation MachineriesFirst independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindredA deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.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.Navigating genetic diagnostics in patients with hearing loss.PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.The role of tRNA synthetases in neurological and neuromuscular disorders.Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Expanding the genotypic spectrum of Perrault syndrome.Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
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P2860
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@ast
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en-gb
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@nl
type
label
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@ast
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en-gb
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@nl
prefLabel
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@ast
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en-gb
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@nl
P2093
P2860
P50
P3181
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P1476
Mutations of human NARS2, enco ...... ic deafness and Leigh syndrome
@en
P2093
Adrian Flierl
Anke Busch
Antonio Davila
Arnold Starr
Catherine Florentz
Doris K Wu
Douglas C Wallace
Eddie Park
Elodie M Richard
Hagen Schwenzer
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1005097
P407
P577
2015-03-25T00:00:00Z