Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. (Q36105214)

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24 January 2020

title

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (English)

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24 January 2020

1 reference

1 reference

6

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24 January 2020

Robert McFarland

series ordinal

13

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24 January 2020

Robert William Taylor

series ordinal

12

object named as

Robert W Taylor

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24 January 2020

11

Emma L Blakely

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24 January 2020

1

Helen A L Tuppen

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24 January 2020

4

Mazhor Al-Dosary

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24 January 2020

2

Karin Naess

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24 January 2020

3

Nancy G Kennaway

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24 January 2020

5

Nicole Lesko

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8

Rolf Wibom

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24 January 2020

9

Inger Nennesmo

1 reference

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10

Richard G Weleber

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24 January 2020

author name string

Helene Bruhn

series ordinal

7

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24 January 2020

publication date

29 February 2012

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European Journal of Human Genetics

24 January 2020

published in

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24 January 2020

volume

20

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issue

8

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24 January 2020

page(s)

897-904

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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

24 January 2020

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Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

2 October 2017

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

2 October 2017

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Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

2 October 2017

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Electrophoresis techniques to investigate defects in oxidative phosphorylation

2 October 2017

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Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

2 October 2017

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Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

2 October 2017

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Prevalence of mitochondrial DNA disease in adults

2 October 2017

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Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

2 October 2017

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

2 October 2017

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Molecular pathogenetic mechanism of maternally inherited deafness

2 October 2017

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A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts

2 October 2017

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Mitochondrial DNA mutations in human disease.

2 October 2017

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The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

2 October 2017

1 reference

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Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

2 October 2017

1 reference

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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

2 October 2017

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Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

2 October 2017

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34 Preparation and properties of complex V

2 October 2017

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A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

2 October 2017

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Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle

2 July 2018

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Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

2 July 2018

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

21 January 2018

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Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

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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Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples

21 January 2018

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A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

21 January 2018

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Secondary metabolic effects in complex I deficiency

21 January 2018

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A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition.

21 January 2018

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Towards understanding human mitochondrial leucine aminoacylation identity.

21 January 2018

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Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

21 January 2018

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Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

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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Mitochondrial dysfunction in hearing loss

21 January 2018

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21 January 2018

Mitochondrial deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial diabetes: investigation and identification of a novel mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proving pathogenicity: when evolution is not enough

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.44

1 reference

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24 January 2020

1 reference

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24 January 2020

PubMed publication ID

22378285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json