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。Comprehensive molecular characterization of mitochondrial genomes in human cancers
Yuan Yuan et al.
NATURE GENETICS (2020)
Formylation of Eukaryotic Cytoplasmic Proteins: Linking Stress to Degradation
Mohamed A. Eldeeb et al.
TRENDS IN BIOCHEMICAL SCIENCES (2019)
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos
Vasileios I. Floros et al.
NATURE CELL BIOLOGY (2018)
Mitochondrial methionyl N-formylation affects steady-state levels of oxidative phosphorylation complexes and their organization into supercomplexes
Tania Arguello et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Genomic atlas of the human plasma proteome
Benjamin B. Sun et al.
NATURE (2018)
Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease
Chen Yao et al.
NATURE COMMUNICATIONS (2018)
Regulating Apoptosis by Degradation: The N-End Rule-Mediated Regulation of Apoptotic Proteolytic Fragments in Mammalian Cells
Mohamed A. Eldeeb et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Formyl-methionine as an N-degron of a eukaryotic N-end rule pathway
Jeong-Mok Kim et al.
SCIENCE (2018)
Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases
Patrick F. Chinnery et al.
FRONTIERS IN NEUROSCIENCE (2018)
Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals
Pedro M. Quiros et al.
JOURNAL OF CELL BIOLOGY (2017)
Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors
Emanuele Di Angelantonio et al.
LANCET (2017)
Enhancing mitochondrial proteostasis reduces amyloid-β proteotoxicity
Vincenzo Sorrentino et al.
NATURE (2017)
Genetic effects on gene expression across human tissues
Francois Aguet et al.
NATURE (2017)
Covariate selection for association screening in multiphenotype genetic studies
Hugues Aschard et al.
NATURE GENETICS (2017)
Reevaluation of SNP heritability in complex human traits
Doug Speed et al.
NATURE GENETICS (2017)
Connecting genetic risk to disease end points through the human blood plasma proteome
Karsten Suhre et al.
NATURE COMMUNICATIONS (2017)
MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association
Shani Marom et al.
SCIENTIFIC REPORTS (2017)
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
William J. Astle et al.
CELL (2016)
Mitochondria and Cancer
Wei-Xing Zong et al.
MOLECULAR CELL (2016)
Synchronized mitochondrial and cytosolic translation programs
Mary T. Couvillion et al.
NATURE (2016)
mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud
Hansi Weissensteiner et al.
NUCLEIC ACIDS RESEARCH (2016)
HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
Hansi Weissensteiner et al.
NUCLEIC ACIDS RESEARCH (2016)
Prevalence of Nuclear and Mitochondrial DNA Mutations Related to Adult Mitochondrial Disease
Grainne S. Gorman et al.
ANNALS OF NEUROLOGY (2015)
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Reetta Hinttala et al.
HUMAN MOLECULAR GENETICS (2015)
Mistargeted mitochondrial proteins activate a proteostatic response in the cytosol
Lidia Wrobel et al.
NATURE (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
James B. Stewart et al.
NATURE REVIEWS GENETICS (2015)
Mitochondrial DNA haplogroup B5 confers genetic susceptibility to Alzheimer's disease in Han Chinese
Rui Bi et al.
NEUROBIOLOGY OF AGING (2015)
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
Claudia Calabrese et al.
BIOINFORMATICS (2014)
Western Eurasian ancestry in modern Siberians based on mitogenomic data
Miroslava Derenko et al.
BMC EVOLUTIONARY BIOLOGY (2014)
An atlas of genetic influences on human blood metabolites
So-Youn Shin et al.
NATURE GENETICS (2014)
Characterizing mild cognitive impairment in incident Parkinson disease The ICICLE-PD Study
Alison J. Yarnall et al.
NEUROLOGY (2014)
Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming
Martin Picard et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial
Carmel Moore et al.
TRIALS (2014)
Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases
Gavin Hudson et al.
PLOS GENETICS (2014)
Functional Recurrent Mutations in the Human Mitochondrial Phylogeny: Dual Roles in Evolution and Disease
Liron Levin et al.
GENOME BIOLOGY AND EVOLUTION (2013)
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
Vivienne C. M. Neeve et al.
MITOCHONDRION (2013)
Control of Protein Quality and Stoichiometries by N-Terminal Acetylation and the N-End Rule Pathway
Anna Shemorry et al.
MOLECULAR CELL (2013)
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease
Gavin Hudson et al.
NEUROLOGY (2013)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt et al.
GENOME RESEARCH (2012)
Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses
Oliver Stegle et al.
NATURE PROTOCOLS (2012)
LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets
Andreas Wilm et al.
NUCLEIC ACIDS RESEARCH (2012)
Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation
Davis J. McCarthy et al.
NUCLEIC ACIDS RESEARCH (2012)
FastUniq: A Fast De Novo Duplicates Removal Tool for Paired Short Reads
Haibin Xu et al.
PLOS ONE (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)
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans
Fuyun Ji et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
Elena J. Tucker et al.
CELL METABOLISM (2011)
Adaptive seeds tame genomic sequence comparison
Szymon M. Kielbasa et al.
GENOME RESEARCH (2011)
Mitochondrial DNA variation in human metabolic rate and energy expenditure
Gregory J. Tranah et al.
MITOCHONDRION (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
Peter Walter et al.
SCIENCE (2011)
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
Mark D. Robinson et al.
BIOINFORMATICS (2010)
Robust relationship inference in genome-wide association studies
Ani Manichaikul et al.
BIOINFORMATICS (2010)
Mitochondrial pharmacogenomics: barcode for antibiotic therapy
David Pacheu-Grau et al.
DRUG DISCOVERY TODAY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups
Aurora Gomez-Duran et al.
HUMAN MOLECULAR GENETICS (2010)
Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study
Patrick F. Chinnery et al.
LANCET NEUROLOGY (2010)
The energetics of genome complexity
Nick Lane et al.
NATURE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
VarScan: variant detection in massively parallel sequencing of individual and pooled samples
Daniel C. Koboldt et al.
BIOINFORMATICS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study
Barbara Kofler et al.
BMC MEDICAL GENETICS (2009)
The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
Stephen A. Bustin et al.
CLINICAL CHEMISTRY (2009)
Updated Comprehensive Phylogenetic Tree of Global Human Mitochondrial DNA Variation
Mannis van Oven et al.
HUMAN MUTATION (2009)
Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
Matthew G. Vander Heiden et al.
SCIENCE (2009)
Ancient mtDNA Genetic Variants Modulate mtDNA Transcription and Replication
Sarit Suissa et al.
PLOS GENETICS (2009)
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Rosa Pello et al.
HUMAN MOLECULAR GENETICS (2008)
Activating transcription factor 4
Kurosh Ameri et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2008)
C/EBP Homology Protein (CHOP) Interacts with Activating Transcription Factor 4 (ATF4) and Negatively Regulates the Stress-dependent Induction of the Asparagine Synthetase Gene
Nan Su et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls
P. F. Chinnery et al.
JOURNAL OF MEDICAL GENETICS (2007)
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Eduardo Ruiz-Pesini et al.
NUCLEIC ACIDS RESEARCH (2007)
Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males
Yutaka Nishigaki et al.
HUMAN GENETICS (2007)
Coping with stress: eIF2 kinases and translational control
RC Wek et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2006)
Population-based study of event-rate, incidence, case fatality, and mortality for all acute vascular events in all arterial territories (Oxford Vascular Study)
PM Rothwell et al.
LANCET (2005)
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
A Subramanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
M Mattiazzi et al.
HUMAN MOLECULAR GENETICS (2004)
Effects of purifying and adaptive selection on regional variation in human mtDNA
E Ruiz-Pesini et al.
SCIENCE (2004)
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
VK Mootha et al.
NATURE GENETICS (2003)
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study
J Poulton et al.
HUMAN MOLECULAR GENETICS (2002)
Blue Native electrophoresis to study mitochondrial and other protein complexes
LGJ Nijtmans et al.
METHODS (2002)
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
MD Brown et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
分享论文
