Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss - Wikidata - awgldk - TriplyDB

Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

http://www.wikidata.org/entity/Q33869557

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Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.A novel role of cytosolic protein synthesis inhibition in aminoglycoside ototoxicity.The mitochondrion: a perpetrator of acquired hearing loss.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.Mitochondrial genome analysis of primary open angle glaucoma patients Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.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?The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.Drugs and mitochondrial diseases: 40 queries and answers.Rational use of aminoglycosides--review and recommendations by the Swedish Reference Group for Antibiotics (SRGA).Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.The clinical and audiologic features of hearing loss due to mitochondrial mutations.The role of mitochondrial DNA mutations in hearing loss.The role of mitochondria in age-related hearing loss.Genetic hearing impairment.Deafness gene mutations in newborns in Beijing.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.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.High-frequency sensorineural hearing loss in children.Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis.Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation.PharmGKB summary: very important pharmacogene information for MT-RNR1.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Pharmacogenetics of drug-induced ototoxicity caused by aminoglycosides and cisplatin.Hearing-loss-associated gene detection in neonatal intensive care unit.GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss.Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population.Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

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Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss

http://www.wikidata.org/entity/Q33869557

description

2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2010 թվականի հունվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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type

label

Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Mitochondrial 12S rRNA variant ...... and nonsyndromic hearing loss

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Aifen Yang

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Bobei Chen

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Dongmei Sun

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Guanghua Peng

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Hong Yu

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Jianfu Chen

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Jianxin Lu

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Jianyue Zhao

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Jindan Wang

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Jing Zheng

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Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

Mitochondrial genome variation in eastern Asia and the peopling of Japan

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

MITOMAP: a human mitochondrial genome database--2004 update

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Secondary structure and patterns of evolution among mammalian mitochondrial 12S rRNA molecules

Molecular 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.

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

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