Random genetic drift determines the level of mutant mtDNA in human primary oocytes (Q34044264)

30 July 2017

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Random genetic drift determines the level of mutant mtDNA in human primary oocytes (English)

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30 July 2017

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5

Chinnery PF

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30 July 2017

Brown DT

1

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30 July 2017

Samuels DC

series ordinal

2

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30 July 2017

Michael EM

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3

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30 July 2017

Turnbull DM

series ordinal

4

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30 July 2017

language of work or name

English

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publication date

29 December 2000

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American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

68

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30 July 2017

issue

2

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30 July 2017

page(s)

533-536

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Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

30 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Mitochondrial genetics '98 is the bottleneck cracked?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Heteroplasmic point mutations in the human mtDNA control region.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

MELAS: clinical features, biochemistry, and molecular genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

Molecular genetic aspects of human mitochondrial disorders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235288

A mouse model of mtDNA disease

28 October 2018

1 reference

12 December 2020

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

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12 December 2020

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

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12 December 2020

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

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12 December 2020

Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

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12 December 2020

The epidemiology of pathogenic mitochondrial DNA mutations

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12 December 2020

A quantitative and cytological study of germ cells in human ovaries

1 reference

12 December 2020

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

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12 December 2020

Identifiers

DOI

10.1086/318190

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30 July 2017

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30 July 2017

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