Universal heteroplasmy of human mitochondrial DNA. (Q36477684)

14 August 2017

Universal heteroplasmy of human mitochondrial DNA. (English)

1 reference

14 August 2017

0 references

1 reference

Ian J Wilson

2

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David C. Samuels

David C Samuels

8

0 references

Rita Horvath

Rita Horvath

6

0 references

Mauro Santibanez-Korev

9

Mauro Santibanez-Koref

1 reference

14 August 2017

3

Patrick Yu-Wai-Man

1 reference

14 August 2017

10

Patrick F Chinnery

1 reference

PMCID

3526165

14 August 2017

Robert William Taylor

7

Robert W Taylor

1 reference

14 August 2017

1

Brendan A I Payne

1 reference

14 August 2017

4

Jonathan Coxhead

1 reference

14 August 2017

David Deehan

5

1 reference

14 August 2017

16 October 2012

1 reference

14 August 2017

Human Molecular Genetics

1 reference

14 August 2017

22

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14 August 2017

384-390

1 reference

14 August 2017

2

1 reference

Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

A viral discovery methodology for clinical biopsy samples utilising massively parallel next generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Next-generation sequencing of miRNAs with Roche 454 GS-FLX technology: steps for a successful application.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA mutations in disease and aging

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Multi-system neurological disease is common in patients with OPA1 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Accurate determination of microbial diversity from 454 pyrosequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Pathogenic mitochondrial DNA mutations are common in the general population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Strong purifying selection in transmission of mammalian mitochondrial DNA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Prevalence of mitochondrial DNA disease in adults

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Harvesting the fruit of the human mtDNA tree

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA mutations in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Premature ageing in mice expressing defective mitochondrial DNA polymerase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

A high observed substitution rate in the human mitochondrial DNA control region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA mutations and pathogenesis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mitochondrial DNA mutations in disease and aging.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

The use of mitochondrial DNA single nucleotide polymorphisms to assist in the resolution of three challenging forensic cases.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3526165

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

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23077218

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS435

1 reference

14 August 2017

1 reference

14 August 2017

1 reference

PMCID

3526165