Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionHuman mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsMitonuclear interactions: evolutionary consequences over multiple biological scalesA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulationModify or die?--RNA modification defects in metazoansReduced TRMU expression increases the sensitivity of hair-cell-like HEI-OC-1 cells to neomycin damage in vitroOverexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.1,000 structures and more from the MCSG.Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Response of mechanosensory hair cells of the zebrafish lateral line to aminoglycosides reveals distinct cell death pathways.Modifiers of hearing impairment in humans and mice.A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing LossThe role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration.Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetesMitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossA compendium of human mitochondrial gene expression machinery with links to disease.Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinicsAn Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.Mitochondrial DNA: impacting central and peripheral nervous systems.Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.Mechanistic study on the nuclear modifier gene MSS1 mutation suppressing neomycin sensitivity of the mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiaeAudio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigreesAnalysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseMaternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Effects of mitochondrial haplogroup N9a on type 2 diabetes mellitus and its associated complications.Mitochondrial deafness alleles confer misreading of the genetic codeMitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Expression and maintenance of mitochondrial DNA: new insights into human disease pathologyNeuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELASNuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
P2860
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P2860
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
description
2006 nî lūn-bûn
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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@ast
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@en
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@nl
type
label
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@ast
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@en
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@nl
prefLabel
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@ast
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@en
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutation in TRMU related to tr ...... al 12S ribosomal RNA mutations
@en
P2093
Emebet Mengesha
Gema Garrido
Jaime Gallo-Teran
Jennifer Lynne Peters
Jianxin Lu
Kimitsuna Watanabe
Min-Xin Guan
Mordechai Shohat
Nathan Fischel-Ghodsian
P2860
P304
P3181
P356
10.1086/506389
P407
P577
2006-08-01T00:00:00Z