(Q55404336)

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

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scholarly article

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

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

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

1 reference

based on heuristic

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author name string

Qiuju Wang

1

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Roughua Li

2

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Hui Zhao

3

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Jennifer L Peters

4

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Qiong Liu

5

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Li Yang

6

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Dongyi Han

7

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

John H Greinwald

8

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Wie-Yen Young

9

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Min-Xin Guan

10

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

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publication date

1 February 2005

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

American Journal of Medical Genetics

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Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

133A

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

1

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

27-30

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

Molecular pathogenetic mechanism of maternally inherited deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Mitochondrial deafness mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

MITOMAP: a human mitochondrial genome database--1998 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Sequence and gene organization of mouse mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

The complete nucleotide sequence of the Xenopus laevis mitochondrial genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

9 July 2018

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

12 August 2018

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

12 August 2018

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

12 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1371058

12 August 2018

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637703

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compilation of small ribosomal subunit RNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637703

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/15637703

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.30424

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

1 reference

Europe PubMed Central

6 July 2018

http://europepmc.org/abstract/PMC/1371058

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