(Q79249810)

English

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

scientific article published on 01 December 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

focal segmental glomerulosclerosis

1 reference

based on heuristic

inferred from title

mitochondrial myopathy

1 reference

based on heuristic

inferred from title

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Otto Hannes Vogel

2

object named as

Hannes Vogel

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598342

28 March 2024

author name string

Fernando Scaglia

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Ling-Ling Liu

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Edith P. Hawkins

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598342

28 March 2024

Georgirene D. Vladutiu

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598342

28 March 2024

Lee-Jun C. Wong

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598342

28 March 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14598342

28 March 2024

publication date

1 December 2003

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20315

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20315

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

123A

1 reference

Europe PubMed Central

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20 December 2019

2

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Europe PubMed Central

PubMed publication ID

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20 December 2019

172-178

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Sequence and organization of the human mitochondrial genome

1

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

2

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Renal failure from mitochondrial cytopathies

3

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.

5

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

6

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia

7

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

8

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Rat glomerular cells do not express podocytic markers when cultured in vitro

10

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

11

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

12

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene

13

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Serum and muscle tissue ubiquinone levels in healthy subjects

17

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Yield of mtDNA mutation analysis in 2,000 patients

18

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

20

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

21

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

22

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

24

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

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

25

1 reference

10.1002/AJMG.A.20315

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28 March 2024

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

26

1 reference

10.1002/AJMG.A.20315

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28 March 2024

CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene

27

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Neonatal presentation of coenzyme Q10 deficiency

28

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

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

29

1 reference

10.1002/AJMG.A.20315

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28 March 2024

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

30

1 reference

10.1002/AJMG.A.20315

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28 March 2024

Determination of ubiquinone-9 and 10 levels in rat tissues and blood by high-performance liquid chromatography with ultraviolet detection

31

1 reference

10.1002/AJMG.A.20315

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28 March 2024

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

33

1 reference

10.1002/AJMG.A.20315

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28 March 2024

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

35

1 reference

10.1002/AJMG.A.20315

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28 March 2024

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

36

1 reference

10.1002/AJMG.A.20315

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28 March 2024

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

37

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

38

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

40

1 reference

10.1002/AJMG.A.20315

https://api.crossref.org/works/10.1002/AJMG.A.20315

28 March 2024

Identifiers

10.1002/AJMG.A.20315

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598342%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

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