Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. - Wikidata - awgldk - TriplyDB

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

http://www.wikidata.org/entity/Q46157086

about

Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathy A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine Human mtDNA haplogroups associated with high or reduced spermatozoa motility A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia New developments in aminoglycoside therapy and ototoxicity Platinum-induced ototoxicity in children: a consensus review on mechanisms, predisposition, and protection, including a new International Society of Pediatric Oncology Boston ototoxicity scale.Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations Mitochondria An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds Mitochondrial DNA mutations in human disease Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background Nonsyndromic hearing impairment: unparalleled heterogeneity A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.Mitochondrial genetics Inner ear symptoms and disease: pathophysiological understanding and therapeutic options Mitochondrial genome changes and neurodegenerative diseases The bacterial and mitochondrial ribosomal A-site molecular switches possess different conformational substates Dissociation of antibacterial activity and aminoglycoside ototoxicity in the 4-monosubstituted 2-deoxystreptamine apramycin 4′-O-substitutions determine selectivity of aminoglycoside antibiotics Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome Dysregulated mitochondrial and chloroplast bioenergetics from a translational medical perspective (Review)A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA)Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies Technical knockout, a Drosophila model of mitochondrial deafness Irreversible sensorineural hearing loss as a result of azithromycin ototoxicity. A case report Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder Mechanisms of aminoglycoside ototoxicity and targets of hair cell protection.Identification of genetic and chemical modulators of zebrafish mechanosensory hair cell death Toward a mtDNA locus-specific mutation database using the LOVD platform

P2860

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P2860

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

http://www.wikidata.org/entity/Q46157086

description

1993 nî lūn-bûn

@nan

1993年の論文

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1993年学术文章

@wuu

1993年学术文章

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1993年学术文章

@zh-cn

1993年学术文章

@zh-hans

1993年学术文章

@zh-my

1993年学术文章

@zh-sg

1993年學術文章

@yue

1993年學術文章

@zh-hant

name

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@en

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@nl

type

label

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@en

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@nl

prefLabel

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@en

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@nl

P1433

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P1433

Nature Genetics

P1476

Mitochondrial ribosomal RNA mu ...... ed and non-syndromic deafness.

@en

P2093

Agapian JV

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Arnos KS

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Bohlman MC

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Bu X

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Cortopassi GA

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Jaber L

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Oztas S

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Prezant TR

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Qiu WQ

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Rotter JI

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P2888

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289-294

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scholarly article

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10.1038/NG0793-289

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3

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1993-07-01T00:00:00Z

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7689389

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P921