(Q58250990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

review article

1 reference

title

Mitochondrial deafness (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Howard T. Jacobs

series ordinal

1

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language of work or name

English

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publication date

1 December 1997

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

483-491

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Inherited hearing defects in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Sequence and transmembrane topology of MEC-4, an ion channel subunit required for mechanotransduction in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Animal mitochondrial DNA: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The endosymbiont hypothesis revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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/10.3109%2F07853899709007472

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/10.3109%2F07853899709007472

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Mitochondrial mutation associated with nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Mitochondrial DNA and RNA processing in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

An accuracy center in the ribosome conserved over 2 billion years

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The tko locus, site of a behavioral mutation in D. melanogaster, codes for a protein homologous to prokaryotic ribosomal protein S12.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Mutant sequences in the rpsL gene of Escherichia coli B/r: mechanistic implications for spontaneous and ultraviolet light mutagenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Antibiotic resistance mechanisms of mutant EF-Tu species in Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The complete sequence of a 6794 bp segment located on the right arm of chromosome II of Saccharomyces cerevisiae. Finding of a putative dUTPase in a yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

A mitochondrial elongation factor-like protein is over-expressed in tumours and differentially expressed in normal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Human mitochondrial tRNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Additional copies of the mitochondrial Ef-Tu and aspartyl-tRNA synthetase genes can compensate for a mutation affecting the maturation of the mitochondrial tRNAAsp

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The role of protein degradation in mitochondrial function and biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

The Saccharomyces cerevisiae OXA1 gene is required for the correct assembly of cytochrome c oxidase and oligomycin-sensitive ATP synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007472

10.3109/07853899709007472

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562514%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference