DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting

Decoding dynamic epigenetic landscapes in human oocytes using single-cell multi-omics sequencing

(2021) Rui Yan et al.   Cell Stem Cell

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

(2021) Masayo Kagami et al.   Clinical Epigenetics

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

(2020) Miriam Elbracht et al.   HUMAN REPRODUCTION UPDATE

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family

(2020) Yao Xu et al.   CLINICAL GENETICS

Placental imprinting: Emerging mechanisms and functions

(2020) Courtney W. Hanna   PLoS Genetics

Maternal H3K27me3-dependent autosomal and X chromosome imprinting

(2020) Zhiyuan Chen et al.   NATURE REVIEWS GENETICS

Genome-wide analysis in the mouse embryo reveals the importance of DNA methylation for transcription integrity

(2020) Thomas Dahlet et al.   Nature Communications

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

(2020) Ana Monteagudo-Sánchez et al.   NUCLEIC ACIDS RESEARCH

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

(2020) Maria Vittoria Cubellis et al.   Clinical Epigenetics

ZNF445 is a primary regulator of genomic imprinting

(2019) Nozomi Takahashi et al.   GENES & DEVELOPMENT

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

(2019) David Monk et al.   NATURE REVIEWS GENETICS

DNA Methylation Reprogramming during Mammalian Development

(2019) Yang Zeng et al.   Genes

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

(2019) Jian Mu et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms of early placental development in mouse and humans

(2019) Myriam Hemberger et al.   NATURE REVIEWS GENETICS

Morphogenesis of extra-embryonic tissues directs the remodelling of the mouse embryo at implantation

(2019) Neophytos Christodoulou et al.   Nature Communications

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

(2019) Hannah Demond et al.   Genome Medicine

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

(2018) JianHua Qian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epigenetic regulation in development: is the mouse a good model for the human?

(2018) Courtney W Hanna et al.   HUMAN REPRODUCTION UPDATE

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Structural basis for DNMT3A-mediated de novo DNA methylation

(2018) Zhi-Min Zhang et al.   NATURE

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Clinical and genetic-epigenetic aspects of recurrent hydatidiform mole: A review of literature

(2018) Najmeh Moein-Vaziri et al.   Taiwanese Journal of Obstetrics & Gynecology

LTR retrotransposons transcribed in oocytes drive species-specific and heritable changes in DNA methylation

(2018) Julie Brind’Amour et al.   Nature Communications

Integrative single-cell analysis of transcriptome, DNA methylome and chromatin accessibility in mouse oocytes

(2018) Chan Gu et al.   CELL RESEARCH

Generation of Bimaternal and Bipaternal Mice from Hypomethylated Haploid ESCs with Imprinting Region Deletions

(2018) Zhi-Kun Li et al.   Cell Stem Cell

Maternal H3K27me3 controls DNA methylation-independent imprinting

(2017) Azusa Inoue et al.   NATURE

Single-cell DNA methylome sequencing of human preimplantation embryos

(2017) Ping Zhu et al.   NATURE GENETICS

A Maternal Functional Module in the Mammalian Oocyte-To-Embryo Transition

(2017) Xukun Lu et al.   TRENDS IN MOLECULAR MEDICINE

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

(2017) Sangeetha Mahadevan et al.   Scientific Reports

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allele-Specific Methylome and Transcriptome Analysis Reveals Widespread Imprinting in the Human Placenta

(2016) Hirotaka Hamada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gametogenesis from Pluripotent Stem Cells

(2016) Mitinori Saitou et al.   Cell Stem Cell

Recent Advances in Imprinting Disorders

(2016) L. Soellner et al.   CLINICAL GENETICS

Pervasive polymorphic imprinted methylation in the human placenta

(2016) Courtney W. Hanna et al.   GENOME RESEARCH

The subcortical maternal complex: multiple functions for one biological structure?

(2016) D. Bebbere et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Dynamic integrated analysis of DNA methylation and gene expression profiles inin vivoandin vitrofertilized mouse post-implantation extraembryonic and placental tissues

(2016) Kun Tan et al.   MOLECULAR HUMAN REPRODUCTION

De novo DNA methylation drives 5hmC accumulation in mouse zygotes

(2016) Rachel Amouroux et al.   NATURE CELL BIOLOGY

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

(2016) Susanne Bens et al.   Epigenomics

Establishment and functions of DNA methylation in the germline

(2016) Kathleen R Stewart et al.   Epigenomics

Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting

(2016) Marta Sanchez-Delgado et al.   PLoS Genetics

The Transcriptome and DNA Methylome Landscapes of Human Primordial Germ Cells

(2015) Fan Guo et al.   CELL

A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development

(2015) Walfred W.C. Tang et al.   CELL

SOX17 Is a Critical Specifier of Human Primordial Germ Cell Fate

(2015) Naoko Irie et al.   CELL

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

(2015) Marta Sanchez-Delgado et al.   PLoS Genetics

DNA methylation dynamics during epigenetic reprogramming in the germline and preimplantation embryos

(2014) D. M. Messerschmidt et al.   GENES & DEVELOPMENT

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

The specification of imprints in mammals

(2014) C W Hanna et al.   HEREDITY

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton

(2014) Elie Akoury et al.   HUMAN REPRODUCTION

Identification of a human subcortical maternal complex

(2014) K. Zhu et al.   MOLECULAR HUMAN REPRODUCTION

Dynamic regulation of DNA methyltransferases in human oocytes and preimplantation embryos after assisted reproductive technologies

(2014) Laetitia Petrussa et al.   MOLECULAR HUMAN REPRODUCTION

DNA methylation dynamics of the human preimplantation embryo

(2014) Zachary D. Smith et al.   NATURE

The DNA methylation landscape of human early embryos

(2014) Hongshan Guo et al.   NATURE

The role of genomic imprinting in biology and disease: an expanding view

(2014) Jo Peters   NATURE REVIEWS GENETICS

Genomic Imprinting in Mammals

(2014) D. P. Barlow et al.   Cold Spring Harbor Perspectives in Biology

The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics

(2014) Xing-Jiang Yu et al.   Nature Communications

Genome-Wide Analysis of DNA Methylation Dynamics during Early Human Development

(2014) Hiroaki Okae et al.   PLoS Genetics

Stability of Genomic Imprinting and Gestational-Age Dynamic Methylation in Complicated Pregnancies Conceived Following Assisted Reproductive Technologies1

(2013) Cristina Camprubí et al.   BIOLOGY OF REPRODUCTION

Single-cell methylome landscapes of mouse embryonic stem cells and early embryos analyzed using reduced representation bisulfite sequencing

(2013) H. Guo et al.   GENOME RESEARCH

DNA methylation: roles in mammalian development

(2013) Zachary D. Smith et al.   NATURE REVIEWS GENETICS

Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells

(2013) Liying Yan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Defining the Genomic Signature of Totipotency and Pluripotency during Early Human Development

(2013) Amparo Galan et al.   PLoS One

The human placenta methylome

(2013) D. I. Schroeder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse Oocyte Methylomes at Base Resolution Reveal Genome-Wide Accumulation of Non-CpG Methylation and Role of DNA Methyltransferases

(2013) Kenjiro Shirane et al.   PLoS Genetics

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

(2012) Sandrine Barbaux et al.   Epigenetics

Should I stay or should I go: Protection and maintenance of DNA methylation at imprinted genes

(2012) Daniel Messerschmidt   Epigenetics

Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers

(2012) S. Seisenberger et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Contribution of Intragenic DNA Methylation in Mouse Gametic DNA Methylomes to Establish Oocyte-Specific Heritable Marks

(2012) Hisato Kobayashi et al.   PLoS Genetics

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic imprinting: recognition and marking of imprinted loci

(2011) Lara K Abramowitz et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Transcription and histone methylation changes correlate with imprint acquisition in male germ cells

(2011) Amandine Henckel et al.   EMBO JOURNAL

In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions

(2011) Simon Quenneville et al.   MOLECULAR CELL

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

(2011) JianHua Qian et al.   MOLECULAR HUMAN REPRODUCTION

The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes

(2011) Tian-Peng Gu et al.   NATURE

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

(2011) Sébastien A Smallwood et al.   NATURE GENETICS

De novo DNA methylation: a germ cell perspective

(2011) Sébastien A. Smallwood et al.   TRENDS IN GENETICS

Mammalian Genomic Imprinting

(2011) M. S. Bartolomei et al.   Cold Spring Harbor Perspectives in Biology

Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies

(2011) Ryan KC Yuen et al.   Epigenetics & Chromatin

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

(2010) M Begemann et al.   CLINICAL GENETICS

Genetic evidence for Dnmt3a-dependent imprinting during oocyte growth obtained by conditional knockout withZp3-Cre and complete exclusion of Dnmt3b by chimera formation

(2010) Masahiro Kaneda et al.   GENES TO CELLS

Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition

(2010) Fumi Tashiro et al.   GENES TO CELLS

Evolution and functional divergence of NLRP genes in mammalian reproductive systems

(2009) Xin Tian et al.   BMC EVOLUTIONARY BIOLOGY

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

(2009) Bruce E. Hayward et al.   HUMAN MUTATION

Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis

(2009) P. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL

A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints

(2008) Xiajun Li et al.   DEVELOPMENTAL CELL

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2008) Catherine Deveault et al.   HUMAN MOLECULAR GENETICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS