Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals (Q33971959)

30 July 2017

Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals (English)

1 reference

30 July 2017

1 reference

Kaixiong Ye

1

1 reference

30 July 2017

Jian Lu

2

1 reference

30 July 2017

Fei Ma

3

1 reference

30 July 2017

Alon Keinan

4

1 reference

30 July 2017

Zhenglong Gu

5

1 reference

30 July 2017

language of work or name

English

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publication date

7 July 2014

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Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

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30 July 2017

111

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30 July 2017

29

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30 July 2017

10654-10659

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

5 July 2018

Mitochondrial genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Predicting functional effect of human missense mutations using PolyPhen-2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Human mitochondrial DNA: roles of inherited and somatic mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

An integrated map of genetic variation from 1,092 human genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Universal heteroplasmy of human mitochondrial DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Spectrum of somatic mitochondrial mutations in five cancers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

A new approach for detecting low-level mutations in next-generation sequence data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Detection of RNA editing events in human cells using high-throughput sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Neutral mitochondrial heteroplasmy and the influence of aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

A map of human genome variation from population-scale sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

A method and server for predicting damaging missense mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Fast and SNP-tolerant detection of complex variants and splicing in short reads

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Automated inference of molecular mechanisms of disease from amino acid substitutions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Correcting for purifying selection: an improved human mitochondrial molecular clock

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Pathogenic mitochondrial DNA mutations are common in the general population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Prevalence of mitochondrial DNA disease in adults

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

An enhanced MITOMAP with a global mtDNA mutational phylogeny

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Mitochondrial DNA mutations in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Mitochondrial threshold effects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

Hereditary mtDNA heteroplasmy: a baseline for aging?

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

No relationship found between point heteroplasmy in mitochondrial DNA control region and age range, sex and haplogroup in human hairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

Prediction of pathogenic mutations in mitochondrially encoded human tRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

Mitochondrial genomes gleaned from human whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

The timing of mitochondrial DNA mutations in aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1403521111

Mitochondrial DNA mutations in disease and aging.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115537

29 October 2018

Identifiers

DOI

10.1073/PNAS.1403521111

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30 July 2017

0 references

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30 July 2017

1 reference