Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

(2016) Johanna H.K. Kauppila et al.   Cell Reports

Mitochondrial DNA Variation in Human Radiation and Disease

(2015) Douglas C. Wallace   CELL

Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing

(2015) Rebecca S. Just et al.   Forensic Science International-Genetics

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

(2014) Claudia Calabrese et al.   BIOINFORMATICS

Polar Body Genome Transfer for Preventing the Transmission of Inherited Mitochondrial Diseases

(2014) Tian Wang et al.   CELL

Germline Quality Control: eEF2K Stands Guard to Eliminate Defective Oocytes

(2014) Hsueh-Ping Chu et al.   DEVELOPMENTAL CELL

Mitochondrial DNA analysis and numerical chromosome condition in human oocytes and polar bodies

(2014) Luca Gianaroli et al.   MOLECULAR HUMAN REPRODUCTION

Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant

(2014) Jahda H Hill et al.   NATURE GENETICS

Transmission of mitochondrial mutations and action of purifying selection in Drosophila melanogaster

(2014) Hansong Ma et al.   NATURE GENETICS

A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck

(2014) Francesco Pallotti et al.   PLoS One

Mitogenomes of Polar Bodies and Corresponding Oocytes

(2014) Luca Gianoarli et al.   PLoS One

Genome Analyses of Single Human Oocytes

(2013) Yu Hou et al.   CELL

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

(2013) E. Hagstrom et al.   NUCLEIC ACIDS RESEARCH

Bioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases

(2013) D. C. Wallace   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Relevance of Mitochondrial Genetics and Metabolism in Cancer Development

(2013) G. Gasparre et al.   Cold Spring Harbor Perspectives in Biology

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

(2012) Doron M. Behar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans

(2011) Nadine Gigarel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Searching for a needle in the haystack: Comparing six methods to evaluate heteroplasmy in difficult sequence context

(2011) Ivana Kurelac et al.   BIOTECHNOLOGY ADVANCES

Evolutionary Patterns of the Mitochondrial Genome in Metazoa: Exploring the Role of Mutation and Selection in Mitochondrial Protein–Coding Genes

(2011) S. Castellana et al.   Genome Biology and Evolution

Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition

(2011) Robert W. Gilkerson et al.   HUMAN MOLECULAR GENETICS

HmtDB, a genomic resource for mitochondrion-based human variability studies

(2011) Francesco Rubino et al.   NUCLEIC ACIDS RESEARCH

The Role of Mitochondrial DNA Copy Number in Mammalian Fertility1

(2010) Timothy Wai et al.   BIOLOGY OF REPRODUCTION

Is the mitochondrial cloud the selection machinery for preferentially transmitting wild-type mtDNA between generations? Rewinding Müller’s ratchet efficiently

(2010) Rong Rong Zhou et al.   CURRENT GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

(2008) Harsha Karur Rajasimha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells

(2008) Giuseppe Gasparre et al.   HUMAN MUTATION

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Revealing the hidden complexities of mtDNA inheritance

(2008) DANIEL JAMES WHITE et al.   MOLECULAR ECOLOGY

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