(Q33772977)

English

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans (English)

1 reference

Europe PubMed Central

29 July 2017

mitochondrial DNA

0 references

Patrick F. Chinnery

2

object named as

Patrick F Chinnery

1 reference

Europe PubMed Central

29 July 2017

Passorn Wonnapinij

1

object named as

Passorn Wonnapinij

1 reference

Europe PubMed Central

29 July 2017

author name string

David C Samuels

3

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

1 April 2010

1 reference

Europe PubMed Central

29 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

29 July 2017

86

1 reference

Europe PubMed Central

29 July 2017

4

1 reference

Europe PubMed Central

29 July 2017

540-550

1 reference

Europe PubMed Central

29 July 2017

New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Fundamental concepts in genetics: Effective population size and patterns of molecular evolution and variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

The distribution of mitochondrial DNA heteroplasmy due to random genetic drift

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

SOLUTION OF A PROCESS OF RANDOM GENETIC DRIFT WITH A CONTINUOUS MODEL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Mitochondrial DNA diseases: histological and cellular studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Variable genotype of Leber's hereditary optic neuropathy patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Evolution in Mendelian populations. 1931.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

4 July 2018

Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Tissue specific distribution of the 3243A->G mtDNA mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Transmission of the mitochondrial t8993c mutation in a new family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850432

30 October 2018

Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonrandom tissue distribution of mutant mtDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20362273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.02.023

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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0 references

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