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
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 mutationsFunctional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss4′-O-substitutions determine selectivity of aminoglycoside antibioticsA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulationWhole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese FamilyMechanisms of aminoglycoside ototoxicity and targets of hair cell protection.Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningOverexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Assessment of nutrient supplement to reduce gentamicin-induced ototoxicity.Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platformIntracellular mechanisms of aminoglycoside-induced cytotoxicity.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.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity.MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration.Mitochondrial biogenesis dysfunction and metabolic dysfunction from a novel mitochondrial tRNAMet 4467 C>A mutation in a Han Chinese family with maternally inherited hypertensionA deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossNew trends in aminoglycosides use.Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationCommon molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.Identification and evaluation of improved 4'-O-(alkyl) 4,5-disubstituted 2-deoxystreptamines as next-generation aminoglycoside antibiotics.Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinicsMolecular basis for the selectivity of antituberculosis compounds capreomycin and viomycin.Aminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy.Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative studyMTO1 worked as a modifier in the aminoglycosides sensitivity of yeast carrying a mitochondrial 15S rRNA C1477G mutationPharmacogenetics of antiretroviral therapy: genetic variation of response and toxicity.Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigreesMaternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
P2860
Q24607834-6BE55CAF-40A8-4F72-9977-453200E73015Q24669653-39EB53B7-9E3A-4979-BD9E-B69FA1477F55Q24791654-9349D1EB-ACA2-41EA-AC7B-512A4744EBFDQ27681495-A13794BA-6055-468E-A2EF-9CF65421AC40Q28082057-4D4BF6CB-EB0F-4966-8D77-2E00FE2BA004Q28117356-B832C358-5840-44C6-8640-FB364A5C83CFQ28393038-0874D825-F007-4C90-B454-05B9BB01137DQ28660527-B23158E8-7840-4249-B788-A53C39B4C1D6Q30397225-439ED894-806E-4907-A357-9C9CE1DC4ED2Q30403140-58B418CC-3C4C-4999-9040-F75221A006EDQ30410332-69FFD66E-9870-4A77-9084-6C20CC905626Q30438646-CE04D329-3F85-4CB7-9EA3-E597477C6059Q30454411-A9B1D2BC-8853-451E-A0AD-9E4AA6A73004Q30485662-C33F1773-A447-42FB-A010-105AA76149A6Q30486353-729B68E2-9ABF-4D1E-BD34-79E9A5283490Q30488706-F52E5B83-EE68-4C17-8614-C321119B1969Q33312080-1928D290-3CD1-4AAF-AC83-0B696A726DFFQ33600227-E0A82334-81F9-47AE-91E7-CBFCC47F1914Q33638916-5E9463CD-6F50-44C6-8B7B-791772949D29Q33780440-36377181-8303-4B4E-8773-92DB5D0674DFQ33843127-CF60314C-D46D-4A69-89DE-1A3CA7B335DBQ33869557-A4AE2016-4170-4F97-A0FB-5B7AEE7F86C6Q33951177-B438DAB4-2183-4CF3-AF20-6F1820B87F4BQ34000668-58A64354-6E35-4229-8FB7-A364FBB9F568Q34046457-35921A8B-0D82-46B3-86DE-9E0918BC0A77Q34184437-4EB60C06-970C-4C1D-8B55-6C74404C2710Q34334742-DD9C06FE-A407-4100-BF1F-C09E9FA943F0Q34531549-990E4BB1-E19C-42EF-9FF5-939497F4C9EEQ34631045-E215F941-70FB-433D-87B2-CDC6781B41EAQ34634692-0B5740A8-E239-4CAF-AB5A-7CFC51F87BCDQ34703553-BBC44094-5CE8-49AB-AD4D-D8E1AF471A31Q34779797-0225BC8C-4CBE-4912-AC80-AD11E63B66A1Q34955098-9890FE54-CD24-4EBD-B24C-A1D6EE740BC6Q35067535-11BFC693-2A11-475B-95FA-7DC68BB536D9Q35289974-10B896C8-B9E0-41F9-A354-31CBAA51208BQ35610774-090A777A-1EFE-4B86-9051-678732CDE53DQ35873680-99437F11-905F-4219-B033-9EEC46AF678EQ35910650-90890E5B-3AD9-4803-9602-4E2937443350Q35969059-952938B4-5C8F-4EBF-BF7A-CFA8B18D1793Q36054556-7B8D0638-3A97-43B6-B7D3-299FA54C3254
P2860
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
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Maternally inherited aminoglyc ...... gene in a large Chinese family
@ast
Maternally inherited aminoglyc ...... gene in a large Chinese family
@en
type
label
Maternally inherited aminoglyc ...... gene in a large Chinese family
@ast
Maternally inherited aminoglyc ...... gene in a large Chinese family
@en
prefLabel
Maternally inherited aminoglyc ...... gene in a large Chinese family
@ast
Maternally inherited aminoglyc ...... gene in a large Chinese family
@en
P2093
P2860
P356
P1476
Maternally inherited aminoglyc ...... gene in a large Chinese family
@en
P2093
Dongyi Han
Jian-Hong Deng
Min-Xin Guan
Qingfeng Yan
Qiuju Wang
Ronghua Li
Wie-Yen Young
Yidong Bai
P2860
P304
P356
10.1086/381133
P407
P577
2003-12-12T00:00:00Z