Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in Human single oocytes, blastoids, and pluripotent stem cells

Human naive epiblast cells possess unrestricted lineage potential

(2021) Ge Guo et al.   Cell Stem Cell

Naive stem cell blastocyst model captures human embryo lineage segregation

(2021) Ayaka Yanagida et al.   Cell Stem Cell

Modelling human blastocysts by reprogramming fibroblasts into iBlastoids

(2021) Xiaodong Liu et al.   NATURE

Blastocyst-like structures generated from human pluripotent stem cells

(2021) Leqian Yu et al.   NATURE

Reconstructing aspects of human embryogenesis with pluripotent stem cells

(2021) Berna Sozen et al.   Nature Communications

Generation of human blastocyst-like structures from pluripotent stem cells

(2021) Yong Fan et al.   Cell Discovery

Human blastoids model blastocyst development and implantation

(2021) Harunobu Kagawa et al.   NATURE

Comprehensive molecular characterization of mitochondrial genomes in human cancers

(2020) Yuan Yuan et al.   NATURE GENETICS

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

(2020) James B. Stewart et al.   NATURE REVIEWS GENETICS

Mechanisms of Mitochondrial DNA Deletion Formation

(2019) Nadee Nissanka et al.   TRENDS IN GENETICS

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

(2019) Leif S. Ludwig et al.   CELL

Germline selection shapes human mitochondrial DNA diversity

(2019) Wei Wei et al.   SCIENCE

Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees

(2019) Arslan A. Zaidi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mitochondrial DNA genetic bottleneck: inheritance and beyond

(2018) Haixin Zhang et al.   Essays in Biochemistry

Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations

(2018) et al.   MOLECULES

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

(2018) Vasileios I. Floros et al.   NATURE CELL BIOLOGY

Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs

(2018) Yi Yang et al.   Protein & Cell

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

(2018) Mauro Santibanez-Koref et al.   MITOCHONDRION

Pervasive within-Mitochondrion Single-Nucleotide Variant Heteroplasmy as Revealed by Single-Mitochondrion Sequencing

(2017) Jacqueline Morris et al.   Cell Reports

SomaticSignatures: inferring mutational signatures from single-nucleotide variants: Fig. 1.

(2015) Julian S. Gehring et al.   BIOINFORMATICS

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations

(2015) Mingkun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unique features of DNA replication in mitochondria: A functional and evolutionary perspective

(2014) Ian J. Holt et al.   BIOESSAYS

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA

(2014) B. Rebolledo-Jaramillo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

(2014) Laura C. Greaves et al.   PLoS Genetics

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

(2014) Young Seok Ju et al.   eLife

Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

(2013) D. C. Wallace et al.   Cold Spring Harbor Perspectives in Biology

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

(2012) Nathan R. Treff et al.   FERTILITY AND STERILITY

Effects of combined epidermal growth factor, brain-derived neurotrophic factor and insulin-like growth factor-1 on human oocyte maturation and early fertilized and cloned embryo development

(2012) Y. Yu et al.   HUMAN REPRODUCTION

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

(2010) Sophie Monnot et al.   HUMAN MUTATION

Detection of Heteroplasmic Mitochondrial DNA in Single Mitochondria

(2010) Joseph E. Reiner et al.   PLoS One

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS