(Q38100717)

28 August 2017

title

The role of mitochondrial DNA mutations in hearing loss (English)

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28 August 2017

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1 reference

Yu Ding

1

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28 August 2017

Jianhang Leng

2

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28 August 2017

Fan Fan

3

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28 August 2017

Bohou Xia

4

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28 August 2017

Pan Xu

5

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28 August 2017

publication date

21 April 2013

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28 August 2017

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28 August 2017

volume

51

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28 August 2017

issue

7-8

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28 August 2017

page(s)

588-602

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Sequence and organization of the human mitochondrial genome

28 August 2017

cites work

1 reference

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A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss.

21 January 2018

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Quiet as a mouse: dissecting the molecular and genetic basis of hearing

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Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

21 January 2018

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Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees

21 January 2018

1 reference

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Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.

21 January 2018

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The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer.

21 January 2018

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The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

21 January 2018

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Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene

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Role of the 1-72 base pair in tRNAs for the activity of Escherichia coli peptidyl-tRNA hydrolase.

21 January 2018

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Mitochondrial deafness mutations reviewed

21 January 2018

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Mitochondrial mutation associated with nonsyndromic deafness

21 January 2018

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Mitochondrial dysfunction in hearing loss.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity

21 January 2018

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The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

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Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

21 January 2018

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Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

21 January 2018

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A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

21 January 2018

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Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation.

21 January 2018

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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

21 January 2018

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

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Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

21 January 2018

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Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

21 January 2018

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21 January 2018

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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 diabetes

21 January 2018

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Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

21 January 2018

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Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

21 January 2018

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Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.

21 January 2018

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

21 January 2018

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Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation

21 January 2018

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Mitochondrial diabetes: molecular mechanisms and clinical presentation

21 January 2018

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Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation

21 January 2018

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Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

21 January 2018

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Mitochondrial disease: mutations and mechanisms.

21 January 2018

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21 January 2018

The genetics of deafness

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Structural insights into translational fidelity

21 January 2018

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Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

21 January 2018

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

21 January 2018

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RNA sequence determinants for aminoglycoside binding to an A-site rRNA model oligonucleotide

21 January 2018

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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

1 reference

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Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

21 January 2018

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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.

21 January 2018

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Human mitochondrial tRNA processing

21 January 2018

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Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.

21 January 2018

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Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

21 January 2018

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Mitochondrial DNA mutations and pathogenesis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Maternally inherited deafness associated with a T1095C mutation in the mDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

The 7472insC mtDNA mutation impairs 5' and 3' processing of tRNA(Ser(UCN)).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Characterization of a collection of deletion mutants at the 3'-end of 16S ribosomal RNA of Escherichia coli.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-013-9589-6

10.1007/S10528-013-9589-6

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1017442339

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1 reference