Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease

(2021) Stephanie Y Yang et al.   GENOME RESEARCH

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

(2021) Na Cai et al.   NATURE MEDICINE

Comprehensive molecular characterization of mitochondrial genomes in human cancers

(2020) Yuan Yuan et al.   NATURE GENETICS

Evaluation of mitochondrial DNA copy number estimation techniques

(2020) Ryan J. Longchamps et al.   PLoS One

Mitochondrial DNA Copy Number and Incident Heart Failure

(2020) Yun Soo Hong et al.   CIRCULATION

Effect of ApoE isoforms on mitochondria in Alzheimer disease

(2020) Junxiang Yin et al.   NEUROLOGY

A simple new approach to variable selection in regression, with application to genetic fine mapping

(2020) Gao Wang et al.   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

Lifestyle and behavioral factors and mitochondrial DNA copy number in a diverse cohort of mid-life and older adults

(2020) Chirag M. Vyas et al.   PLoS One

Involvement of Lipids in Alzheimer’s Disease Pathology and Potential Therapies

(2020) Hannah Chew et al.   Frontiers in Physiology

Mitochondrial DNA copy number and incident atrial fibrillation

(2020) Di Zhao et al.   BMC Medicine

Myocardial metabolic remodelling in dyslipidaemia

(2020) Mariola Olkowicz et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Mitochondrial DNA copy number and diabetes: the Atherosclerosis Risk in Communities (ARIC) study

(2020) Bailey DeBarmore et al.   BMJ Open Diabetes Research & Care

Genotype imputation using the Positional Burrows Wheeler Transform

(2020) Simone Rubinacci et al.   PLoS Genetics

Integrating predicted transcriptome from multiple tissues improves association detection

(2019) Alvaro N. Barbeira et al.   PLoS Genetics

Mitochondrial DNA Depletion Syndromes

(2019) Donald Basel   CLINICS IN PERINATOLOGY

Accurate, scalable and integrative haplotype estimation

(2019) Olivier Delaneau et al.   Nature Communications

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

(2019) Fady Hannah-Shmouni et al.   Frontiers in Neurology

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion

(2018) Lishuang Shen et al.   HUMAN MUTATION

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

(2018) Joanna Rusecka et al.   JOURNAL OF APPLIED GENETICS

Mitochondrial levels determine variability in cell death by modulating apoptotic gene expression

(2018) Silvia Márquez-Jurado et al.   Nature Communications

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Mitochondrial DNA copy number is associated with psychosis severity and anti-psychotic treatment

(2018) Parvin Kumar et al.   Scientific Reports

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

SumHer better estimates the SNP heritability of complex traits from summary statistics

(2018) Doug Speed et al.   NATURE GENETICS

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank

(2017) Louise AC Millard et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genetic variations related to maternal whole blood mitochondrial DNA copy number: a genome-wide and candidate gene study

(2017) Tsegaselassie Workalemahu et al.   Journal of Maternal-Fetal & Neonatal Medicine

Functional Mitochondria in Health and Disease

(2017) Patries M. Herst et al.   Frontiers in Endocrinology

Association of Mitochondrial DNA Copy Number With Cardiovascular Disease

(2017) Foram N. Ashar et al.   JAMA Cardiology

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

(2017) Wei Wei et al.   Acta Neuropathologica Communications

MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association

(2017) Shani Marom et al.   Scientific Reports

Association between Mitochondrial DNA Copy Number in Peripheral Blood and Incident CKD in the Atherosclerosis Risk in Communities Study

(2016) A. Tin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mitofusins, from Mitochondria to Metabolism

(2016) Emilie Schrepfer et al.   MOLECULAR CELL

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

(2016) Angela Pyle et al.   NEUROBIOLOGY OF AGING

Adjusting MtDNA Quantification in Whole Blood for Peripheral Blood Platelet and Leukocyte Counts

(2016) Yamilee Hurtado-Roca et al.   PLoS One

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

(2016) Christian Dölle et al.   Nature Communications

Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns

(2016) Tal Cohen et al.   PLoS Genetics

Mitochondrial DNA copy number variation across human cancers

(2016) Ed Reznik et al.   eLife

Genetic Control over mtDNA and Its Relationship to Major Depressive Disorder

(2015) Na Cai et al.   CURRENT BIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Biological interpretation of genome-wide association studies using predicted gene functions

(2015) Tune H. Pers et al.   Nature Communications

Direct interaction of actin filaments with F-BAR protein pacsin2

(2014) J. Kostan et al.   EMBO REPORTS

The importance of calcium in the regulation of megakaryocyte function

(2014) C. Andrea Di Buduo et al.   HAEMATOLOGICA

Defects of Mitochondrial DNA Replication

(2014) William C. Copeland   JOURNAL OF CHILD NEUROLOGY

Association of mitochondrial DNA levels with frailty and all-cause mortality

(2014) Foram N. Ashar et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Platelet production proceeds independently of the intrinsic and extrinsic apoptosis pathways

(2014) Emma C. Josefsson et al.   Nature Communications

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Mitochondrial genome changes and neurodegenerative diseases

(2013) Milena Pinto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Differential Roles of C-terminal Eps15 Homology Domain Proteins as Vesiculators and Tubulators of Recycling Endosomes

(2013) Bishuang Cai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigenetics

(2013) Manti Guha et al.   MITOCHONDRION

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

(2013) Ayman W. El-Hattab et al.   Neurotherapeutics

Mitochondria and Cardiovascular Aging

(2012) Dao-Fu Dai et al.   CIRCULATION RESEARCH

Is mitochondrial DNA content a potential biomarker of mitochondrial dysfunction?

(2012) Afshan N. Malik et al.   MITOCHONDRION

Functional prediction and physiological characterization of a novel short trans-membrane protein 1 as a subunit of mitochondrial respiratory complexes

(2012) Dapeng Zhang et al.   PHYSIOLOGICAL GENOMICS

Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies

(2011) Buhm Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Megakaryocytes possess a functional intrinsic apoptosis pathway that must be restrained to survive and produce platelets

(2011) Emma C. Josefsson et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The implications of mitochondrial DNA copy number regulation during embryogenesis

(2011) Phillippa J. Carling et al.   MITOCHONDRION

REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

(2011) Fran Supek et al.   PLoS One

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Epigenetic regulation of insulin resistance in nonalcoholic fatty liver disease: Impact of liver methylation of the peroxisome proliferator-activated receptor γ coactivator 1α promoter

(2010) Silvia Sookoian et al.   HEPATOLOGY

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS

Dynamic regulation of mitochondrial function in preimplantation embryos and embryonic stem cells

(2010) Alexandra Harvey et al.   MITOCHONDRION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Gene ontology analysis for RNA-seq: accounting for selection bias

(2010) Matthew D Young et al.   GENOME BIOLOGY

Number matters: control of mammalian mitochondrial DNA copy number

(2009) Laura L. Clay Montier et al.   Journal of Genetics and Genomics

Mitochondrial DNA Content: Its Genetic Heritability and Association With Renal Cell Carcinoma

(2008) J. Xing et al.   JNCI-Journal of the National Cancer Institute

Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study

(2008) Patrick Linsel-Nitschke et al.   PLoS One

Increased distributional variance of mitochondrial DNA content associated with prostate cancer cells as compared with normal prostate cells

(2008) Takatsugu Mizumachi et al.   PROSTATE

Platelet contamination causes large variation as well as overestimation of mitochondrial DNA content of peripheral blood mononuclear cells

(2008) M. Urata et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Genetic study evaluating LDLR polymorphisms and Alzheimer's disease

(2007) R. Lämsä et al.   NEUROBIOLOGY OF AGING

Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology

(2007) Debbie A. Lawlor et al.   STATISTICS IN MEDICINE