New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis

The aetiology of cardiovascular disease: a role for mitochondrial DNA?

(2018) Marianne Venter et al.   Cardiovascular Journal of Africa

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations

(2018) Hannah O’Keefe et al.   JOURNAL OF MOLECULAR EVOLUTION

Investigation of whole mitochondrial genome variation in normal tension glaucoma

(2018) Agnieszka Piotrowska-Nowak et al.   EXPERIMENTAL EYE RESEARCH

Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study

(2017) Marianne Venter et al.   Journal of Genetics and Genomics

MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals

(2017) Ilse S. Pienaar et al.   MITOCHONDRION

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

(2017) Rachel A. Queen et al.   PLoS One

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

(2017) Wei Wei et al.   PLoS Genetics

Wieloośrodkowe Ogólnopolskie Badanie Stanu Zdrowia Ludności (badanie WOBASZ II): założenia, metody i realizacja

(2016) Wojciech Drygas et al.   Kardiologia Polska

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud

(2016) Hansi Weissensteiner et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies

(2015) Antonio Salas et al.   Journal of Genetics and Genomics

Prediction of the Damage-Associated Non-Synonymous Single Nucleotide Polymorphisms in the Human MC1R Gene

(2015) Diego Hepp et al.   PLoS One

Mitochondrial DNA Variants in Obesity

(2014) Nadja Knoll et al.   PLoS One

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

(2014) Gavin Hudson et al.   PLoS Genetics

A mitochondrial bioenergetic etiology of disease

(2013) Douglas C. Wallace   JOURNAL OF CLINICAL INVESTIGATION

Increased oxidative stress in obesity: Implications for metabolic syndrome, diabetes, hypertension, dyslipidemia, atherosclerosis, and cancer

(2013) Morihiro Matsuda et al.   Obesity Research & Clinical Practice

Evaluating Purifying Selection in the Mitochondrial DNA of Various Mammalian Species

(2013) Pedro Soares et al.   PLoS One

Somatic mitochondrial DNA mutations in cancer escape purifying selection and high pathogenicity mutations lead to the oncocytic phenotype: pathogenicity analysis of reported somatic mtDNA mutations in tumors

(2012) Luísa Pereira et al.   BMC CANCER

Mitochondria in vascular disease

(2012) E. Yu et al.   CARDIOVASCULAR RESEARCH

Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity

(2011) Luísa Pereira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bioenergetics and the epigenome: Interface between the environment and genes in common diseases

(2010) Douglas C. Wallace   Developmental Disabilities Research Reviews

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Screening of the General Polish Population for Deafness-Associated Mutations in Mitochondrial 12S rRNA and tRNASer(UCN) Genes

(2009) Małgorzata Rydzanicz et al.   Genetic Testing and Molecular Biomarkers