Recurrent tissue-specific mtDNA mutations are common in humans (Q37288998)

19 August 2017

Recurrent tissue-specific mtDNA mutations are common in humans (English)

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19 August 2017

9

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19 August 2017

Antonis Rokas

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David C. Samuels

object named as

David C Samuels

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Jonathan L Haines

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object named as

Jonathan L Haines

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19 August 2017

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Eric Torstenson

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19 August 2017

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Deborah G Murdock

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19 August 2017

Chun Li

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19 August 2017

Bingshan Li

3

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19 August 2017

Zhuo Song

4

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19 August 2017

Hayley Boyd Clay

6

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19 August 2017

Tricia A Thornton-Wells

8

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19 August 2017

Tia M Hughes

10

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19 August 2017

Robert D Hoffman

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19 August 2017

Douglas P Mortlock

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19 August 2017

Scott M Williams

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19 August 2017

7 November 2013

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19 August 2017

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19 August 2017

9

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19 August 2017

e1003929

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19 August 2017

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Creative Commons Attribution 4.0 International

19 August 2017

start time

7 November 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition

6 September 2017

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Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.

6 September 2017

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Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation

6 September 2017

1 reference

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A twin study of mitochondrial DNA polymorphisms shows that heteroplasmy at multiple sites is associated with mtDNA variant 16093 but not with zygosity

6 September 2017

1 reference

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Somatic hypermutation of human mitochondrial and nuclear DNA by APOBEC3 cytidine deaminases, a pathway for DNA catabolism

6 September 2017

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The ploidy conveyor of mature hepatocytes as a source of genetic variation.

6 September 2017

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6 September 2017

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Somatic mitochondrial DNA mutations in mammalian aging

6 September 2017

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Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

6 September 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

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The inheritance of pathogenic mitochondrial DNA mutations

6 September 2017

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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

6 September 2017

1 reference

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Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region

6 September 2017

1 reference

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What causes mitochondrial DNA deletions in human cells?

6 September 2017

1 reference

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Strong purifying selection in transmission of mammalian mitochondrial DNA

6 September 2017

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Mitochondrial DNA sequence variation in Jewish populations

6 September 2017

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Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness

6 September 2017

1 reference

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Evaluation of variation in control region sequences for Hispanic individuals in the SWGDAM mtDNA data set.

6 September 2017

1 reference

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Mitochondrial DNA and disease

6 September 2017

1 reference

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Characterization of human control region sequences of the African American SWGDAM forensic mtDNA data set.

6 September 2017

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Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis

6 September 2017

1 reference

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Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication

6 September 2017

1 reference

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Precise determination of mitochondrial DNA copy number in human skeletal and cardiac muscle by a PCR-based assay: lack of change of copy number with age.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

6 September 2017

1 reference

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A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

The diversity present in 5140 human mitochondrial genomes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Preparing T cell growth factor from rat splenocytes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Mitochondrial DNA mutations in RRF of healthy subjects of different age.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003929

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003929

Nuclear genetic control of mitochondrial DNA segregation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

[Variation of human mitochondrial DNA: distribution of hot spots in hypervariable segment I of the major noncoding region]

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3820769

Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003929

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

21 January 2018

1 reference

12 December 2020

Mitochondrial DNA sequence alterations observed between blood and buccal cells within the same individuals having betel quid (BQ)-chewing habit

1 reference

12 December 2020

1 reference

12 December 2020

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003929

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

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