相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Mitochondrial genetics
Patrick Francis Chinnery et al.
BRITISH MEDICAL BULLETIN (2013)
Hereditary mtDNA Heteroplasmy: A Baseline for Aging?
Michael Keogh et al.
CELL METABOLISM (2013)
Universal heteroplasmy of human mitochondrial DNA
Brendan A. I. Payne et al.
HUMAN MOLECULAR GENETICS (2013)
Germline mitochondrial DNA mutations aggravate ageing and can impair brain development
Jaime M. Ross et al.
NATURE (2013)
Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage
Scott R. Kennedy et al.
PLOS GENETICS (2013)
Heteroplasmy of Mouse mtDNA Is Genetically Unstable and Results in Altered Behavior and Cognition
Mark S. Sharpley et al.
CELL (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Mitochondrial genomes gleaned from human whole-exome sequencing
Ernesto Picardi et al.
NATURE METHODS (2012)
Human mitochondrial DNA: roles of inherited and somatic mutations
Eric A. Schon et al.
NATURE REVIEWS GENETICS (2012)
Spectrum of somatic mitochondrial mutations in five cancers
Tatianna C. Larman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency
Maria Ximena Sosa et al.
PLOS COMPUTATIONAL BIOLOGY (2012)
A new approach for detecting low-level mutations in next-generation sequence data
Mingkun Li et al.
GENOME BIOLOGY (2012)
Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity
Luisa Pereira et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
Domenico Simone et al.
BMC GENOMICS (2011)
Neutral mitochondrial heteroplasmy and the influence of aging
Neal Sondheimer et al.
HUMAN MOLECULAR GENETICS (2011)
No relationship found between point heteroplasmy in mitochondrial DNA control region and age range, sex and haplogroup in human hairs
Maria Angelica de Camargo et al.
MOLECULAR BIOLOGY REPORTS (2011)
The timing of mitochondrial DNA mutations in aging
Konstantin Khrapko
NATURE GENETICS (2011)
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
Brendan A. I. Payne et al.
NATURE GENETICS (2011)
Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study
Hiroki Goto et al.
GENOME BIOLOGY (2011)
Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes
Mingkun Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Fast and SNP-tolerant detection of complex variants and splicing in short reads
Thomas D. Wu et al.
BIOINFORMATICS (2010)
Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
Yiping He et al.
NATURE (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock
Pedro Soares et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons
Hirokazu Fukui et al.
HUMAN MOLECULAR GENETICS (2009)
Investigation of Heteroplasmy in the Human Mitochondrial DNA Control Region: A Synthesis of Observations from More Than 5000 Global Population Samples
Jodi A. Irwin et al.
JOURNAL OF MOLECULAR EVOLUTION (2009)
Pathogenic mitochondrial DNA mutations are common in the general population
Hannah R. Elliott et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Prevalence of mitochondrial DNA disease in adults
Andrew M. Schaefer et al.
ANNALS OF NEUROLOGY (2008)
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Eduardo Ruiz-Pesini et al.
NUCLEIC ACIDS RESEARCH (2007)
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
Y Kraytsberg et al.
NATURE GENETICS (2006)
Prediction of pathogenic mutations in mitochondrially encoded human tRNAs
FA Kondrashov
HUMAN MOLECULAR GENETICS (2005)
Mitochondrial DNA mutations in human disease
RW Taylor et al.
NATURE REVIEWS GENETICS (2005)
Mitochondrial threshold effects
R Rossignol et al.
BIOCHEMICAL JOURNAL (2003)
Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control
F Diaz et al.
NUCLEIC ACIDS RESEARCH (2002)
Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues
E Nekhaeva et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection
HA Coller et al.
NATURE GENETICS (2001)
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age
JL Elson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age
CD Calloway et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)