(Q44020891)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12054632%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation (English)

1 reference

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9 November 2019

0 references

1 reference

1

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9 November 2019

Francesco Pallotti

2

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9 November 2019

Filippo Maria Santorelli

6

object named as

Filippo Santorelli

1 reference

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9 November 2019

author name string

Winsome F Walker

3

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9 November 2019

Nicoletta Checcarelli

4

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9 November 2019

Olimpia Musumeci

5

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9 November 2019

Giulia d'Amati

7

1 reference

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9 November 2019

Eric A Schon

8

1 reference

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9 November 2019

Michio Hirano

10

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9 November 2019

Mercy M Davidson

11

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9 November 2019

Salvatore DiMauro

9

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9 November 2019

language of work or name

English

0 references

publication date

1 April 2002

1 reference

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Biochemical and Biophysical Research Communications

9 November 2019

published in

1 reference

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9 November 2019

volume

293

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9 November 2019

issue

1

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9 November 2019

page(s)

521-529

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Mitochondrial defects and hearing loss

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Genetic causes of hearing loss

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Maternally inherited hearing impairment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Oxidative phosphorylation disease diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Candidate locus for a nuclear modifier gene for maternally inherited deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Interaction of antibiotics with functional sites in 16S ribosomal RNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Effects of mutagenesis of a conserved base-paired site near the decoding region of Escherichia coli 16 S ribosomal RNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Binding of neomycin-class aminoglycoside antibiotics to the A-site of 16 S rRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

7 January 2021

Mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Assay of mitochondrial ATP synthesis in animal cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rho 0 HeLa cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Modelling in Escherichia coli of mutations in mitoribosomal protein S12: novel mutant phenotypes of rpsL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Identification and functional characterization of the protein controlled by the streptomycin-resistant locus in E. coli

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Non-competitive inhibition of group I intron RNA self-splicing by aminoglycoside antibiotics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Inhibition of RNase P RNA cleavage by aminoglycosides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900256-5

10.1016/S0006-291X(02)00256-5

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12054632%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference