(Q50488844)

14 March 2018

title

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness (English)

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14 March 2018

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Olsson C

1

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14 March 2018

Johnsen E

2

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14 March 2018

Nilsson M

3

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14 March 2018

Wilander E

4

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14 March 2018

Syvänen AC

5

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14 March 2018

Lagerström-Fermér M

6

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14 March 2018

publication date

1 December 2001

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

9

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14 March 2018

issue

12

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14 March 2018

page(s)

917-921

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14 March 2018

Diseases of the mitochondrial DNA.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Maternally inherited diabetes and deafness: a new diabetes subtype

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Inheritance and expression of mitochondrial DNA point mutations

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

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7 January 2021

Detection and quantitation of human papillomavirus by using the fluorescent 5' exonuclease assay

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Noninvasive diagnosis of the MELAS syndrome from blood DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Heteroplasmy of the human mtDNA control region remains constant during life

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Relaxed replication of mtDNA: A model with implications for the expression of disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200742

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14 March 2018

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14 March 2018