Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

(2012) Hue-Tran Hornig-Do et al.   EMBO JOURNAL

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

On the Programmed/Non-Programmed Nature of Ageing within the Life History

(2011) Thomas B.L. Kirkwood et al.   CURRENT BIOLOGY

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

(2011) John W. Yarham et al.   HUMAN MUTATION

Mitochondrial DNA and disease

(2011) Laura C Greaves et al.   JOURNAL OF PATHOLOGY

The human urothelium consists of multiple clonal units, each maintained by a stem cell

(2011) Nadine T Gaisa et al.   JOURNAL OF PATHOLOGY

In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells

(2011) John K Blackwood et al.   JOURNAL OF PATHOLOGY

The timing of mitochondrial DNA mutations in aging

(2011) Konstantin Khrapko   NATURE GENETICS

Somatic mutations of mitochondrial DNA in aging and cancer progression

(2010) Hsin-Chen Lee et al.   AGEING RESEARCH REVIEWS

Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts

(2010) Laura C. Greaves et al.   EXPERIMENTAL GERONTOLOGY

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

(2010) Rosetta Marotta et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells

(2010) D.-F. Suen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Human liver stem cells originate from the canals of hering

(2009) Nimantha De Alwis et al.   HEPATOLOGY

Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

(2009) Joanna L. Elson et al.   HUMAN MUTATION

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

(2009) Konstantina Fragaki et al.   MITOCHONDRION

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

(2009) Charlotte L. Alston et al.   NEUROMUSCULAR DISORDERS

A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues

(2009) Tariq G. Fellous et al.   STEM CELLS

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

(2008) Amy K. Reeve et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Locating the stem cell niche and tracing hepatocyte lineages in human liver

(2008) Tariq G. Fellous et al.   HEPATOLOGY

Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations

(2008) Lydia Gutierrez-Gonzalez et al.   JOURNAL OF PATHOLOGY

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice

(2008) Marc Vermulst et al.   NATURE GENETICS

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

(2008) Esther Downham et al.   NEUROMUSCULAR DISORDERS

Sidestepping Mutational Meltdown

(2008) Eric A. Shoubridge et al.   SCIENCE

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE

Mitigating Mutational Meltdown in Mammalian Mitochondria

(2008) David M Rand   PLOS BIOLOGY

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY

Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells

(2007) Stuart A.C. McDonald et al.   GASTROENTEROLOGY