Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesWhen should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Genetic susceptibility to cerebrovascular diseaseMitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusisPostlingual hearing loss as a mitochondrial 3243A>G mutation phenotypeNon-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.Platelet mitochondrial DNA methylation: a potential new marker of cardiovascular disease.Somatic alterations in mitochondrial DNA produce changes in cell growth and metabolism supporting a tumorigenic phenotype.Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the diseaseCharles Darwin's mitochondria.Audiologic and genetic features of the A3243G mtDNA mutationMitochondrial dysfunction in metabolic syndrome and asthma.Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.Twins, quadruplexes, and more: functional aspects of native and engineered RNA self-assembly in vivoMouse models of mitochondrial DNA defects and their relevance for human disease.Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNAMitochondrial DNA variant interactions modify breast cancer risk.Identification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation.Cardiological manifestations of mitochondrial respiratory chain disorders.Role of taurine in the pathologies of MELAS and MERRF.The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier.Hepatic encephalopathy: An approach to its multiple pathophysiological features.Length variation in the mouse mitochondrial tRNA(Arg) DHU loop size promotes oxidative phosphorylation functional differences.MELAS: clinical features, muscle biopsy and molecular genetics.Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.Functional Mitochondria in Health and Disease.Darwinian dyspepsia, a more definitive diagnosis.Ptosis as an associated finding in maternally inherited diabetes and deafness.Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association.Farther than Fahr-reply.
P2860
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P2860
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
description
2007 nî lūn-bûn
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2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@ast
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@en
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@nl
type
label
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@ast
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@en
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@nl
prefLabel
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@ast
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@en
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@nl
P2860
P1476
Genetic, pathogenetic, and phe ...... l A3243G tRNALeu(UUR) mutation
@en
P2093
J Finsterer
P2860
P356
10.1111/J.1600-0404.2007.00836.X
P407
P577
2007-07-01T00:00:00Z