(Q50994607)

26 March 2018

title

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. (English)

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26 March 2018

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26 March 2018

Patrick F. Chinnery

series ordinal

2

object named as

Patrick F Chinnery

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26 March 2018

publication date

1 August 2015

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26 March 2018

published in

Nature Reviews Genetics

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26 March 2018

volume

16

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26 March 2018

issue

9

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26 March 2018

page(s)

530-542

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26 March 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 January 2018

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21 January 2018

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Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA.

21 January 2018

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Analysis of European mtDNAs for recombination

21 January 2018

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Human mitochondrial DNA: roles of inherited and somatic mutations

21 January 2018

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Risk of developing a mitochondrial DNA deletion disorder

21 January 2018

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

21 January 2018

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Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome

21 January 2018

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Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

21 January 2018

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Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

21 January 2018

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Pathogenic mitochondrial DNA mutations are common in the general population

21 January 2018

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Detection of a specific mitochondrial DNA deletion in tissues of older humans

21 January 2018

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Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

21 January 2018

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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

21 January 2018

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Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons

21 January 2018

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 January 2018

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

21 January 2018

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Somatic mutations of the mitochondrial genome in human colorectal tumours

21 January 2018

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Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

21 January 2018

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Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

21 January 2018

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Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

21 January 2018

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Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes

21 January 2018

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The genomic landscape of polymorphic human nuclear mitochondrial insertions

21 January 2018

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

21 January 2018

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Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins

21 January 2018

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Universal heteroplasmy of human mitochondrial DNA.

21 January 2018

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

21 January 2018

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Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells

21 January 2018

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

21 January 2018

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

21 January 2018

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Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control

21 January 2018

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Selfish little circles: transmission bias and evolution of large deletion-bearing mitochondrial DNA in Caenorhabditis briggsae nematodes.

21 January 2018

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Recurrent tissue-specific mtDNA mutations are common in humans

21 January 2018

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MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage

21 January 2018

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In vivo mutagenesis reveals that OriL is essential for mitochondrial DNA replication

21 January 2018

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Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

21 January 2018

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Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

21 January 2018

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

21 January 2018

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Gimap3 regulates tissue-specific mitochondrial DNA segregation

21 January 2018

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Mapping of mitochondrial DNA of individual sheep and goats: rapid evolution in the D loop region

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

21 January 2018

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The inheritance of pathogenic mitochondrial DNA mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Strong purifying selection in transmission of mammalian mitochondrial DNA

21 January 2018

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A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

21 January 2018

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Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

21 January 2018

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Transmission of mitochondrial mutations and action of purifying selection in Drosophila melanogaster

21 January 2018

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Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant

21 January 2018

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Importing mitochondrial proteins: machineries and mechanisms

21 January 2018

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Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos

21 January 2018

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Keeping mtDNA in shape between generations

21 January 2018

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The Genographic Project public participation mitochondrial DNA database

21 January 2018

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Correcting for purifying selection: an improved human mitochondrial molecular clock

21 January 2018

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High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.

21 January 2018

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Natural selection and the evolution of mtDNA-encoded peptides: evidence for intergenomic co-adaptation

21 January 2018

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Effects of purifying and adaptive selection on regional variation in human mtDNA.

21 January 2018

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Natural selection shaped regional mtDNA variation in humans

21 January 2018

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The power to detect disease associations with mitochondrial DNA haplogroups

21 January 2018

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Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

21 January 2018

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Mitochondrial DNA haplogroups are associated with severe sepsis and mortality in patients who underwent major surgery

21 January 2018

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Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

21 January 2018

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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

21 January 2018

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Medicine. Mitochondrial replacement, evolution, and the clinic.

21 January 2018

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The challenges of mitochondrial replacement.

21 January 2018

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Mitochondrial DNA maintenance in vertebrates

21 January 2018

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Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

21 January 2018

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Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

21 January 2018

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A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA.

21 January 2018

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MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene transcription regulation

21 January 2018

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POLRMT does not transcribe nuclear genes.

21 January 2018

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Gene-environment interactions in Leber hereditary optic neuropathy

21 January 2018

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Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

21 January 2018

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Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

21 January 2018

1 reference

Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage

21 January 2018

1 reference

Sequencing and comparing whole mitochondrial genomes of animals

21 January 2018

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High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing

21 January 2018

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

21 January 2018

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The implications of mitochondrial DNA copy number regulation during embryogenesis

21 January 2018

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Mitochondrial DNA variation in human evolution and disease

21 January 2018

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mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

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Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides

21 January 2018

1 reference

A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop

21 January 2018

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Mitochondria and germ-cell death

21 January 2018

1 reference

The epidemiology of pathogenic mitochondrial DNA mutations

21 January 2018

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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

31 March 2020

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Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

31 March 2020

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Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

31 March 2020

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Deep resequencing of mitochondrial DNA

31 March 2020

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Progressive depletion of mtDNA in mitochondrial myopathy

31 March 2020

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Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

31 March 2020

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

31 March 2020

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Do mitochondrial mutations cause recurrent miscarriage?

31 March 2020

1 reference

Mitochondrial DNA and survival after sepsis: a prospective study

31 March 2020

1 reference

UK becomes first country to allow mitochondrial donation

31 March 2020

1 reference

Replicative advantage and tissue-specific segregation of RR mitochondrial DNA between C57BL/6 and RR heteroplasmic mice

31 March 2020

1 reference

12 December 2020

Mitochondrial DNA transmission genetics in crickets

1 reference

12 December 2020

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

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12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

12 December 2020

Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.

1 reference

12 December 2020

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

1 reference

12 December 2020

Classification of European mtDNAs from an analysis of three European populations

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG3966

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26 March 2018

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26 March 2018