Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss
about
Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNAMutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsComparison of auditory brainstem response in HIV-1 exposed and unexposed newborns and correlation with the maternal viral load and CD4+ cell countsMolecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.Hearing loss in perinatally HIV-infected and HIV-exposed but uninfected children and adolescentsMitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossMitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinicsAminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy.Mitochondrial genome analysis of primary open angle glaucoma patientsAn MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?Language impairment in children perinatally infected with HIV compared to children who were HIV-exposed and uninfected.Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Mitochondrial deafness alleles confer misreading of the genetic codeMitochondrial rRNA and tRNA and hearing function.The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?Ototoxicity in preterm infants: effects of genetics, aminoglycosides, and loud environmental noise.The role of mitochondrial DNA mutations in hearing loss.Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.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.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR.A maternal hereditary deafness pedigree of the A1555G mitochondrial mutation, causing aminoglycoside ototoxicity predisposition.The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.
P2860
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P2860
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss
description
2005 nî lūn-bûn
@nan
2005 թուականին հրատարակուած գիտական յօդուած
@hyw
2005 թվականին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
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
Functional characterization of ...... and non-syndromic hearing loss
@ast
Functional characterization of ...... and non-syndromic hearing loss
@en
Functional characterization of ...... and non-syndromic hearing loss
@nl
type
label
Functional characterization of ...... and non-syndromic hearing loss
@ast
Functional characterization of ...... and non-syndromic hearing loss
@en
Functional characterization of ...... and non-syndromic hearing loss
@nl
prefLabel
Functional characterization of ...... and non-syndromic hearing loss
@ast
Functional characterization of ...... and non-syndromic hearing loss
@en
Functional characterization of ...... and non-syndromic hearing loss
@nl
P2093
P2860
P3181
P356
P1476
Functional characterization of ...... and non-syndromic hearing loss
@en
P2093
Dongyi Han
Jennifer L Peters
Juyang Cao
Min-Xin Guan
Qingfeng Yan
Qiuju Wang
Ronghua Li
Wie-Yen Young
Xiaoming Li
P2860
P304
P3181
P356
10.1093/NAR/GKI262
P407
P577
2005-01-01T00:00:00Z