Genetic causes of preimplantation embryo developmental failure

Loss of RBBP4 results in defective inner cell mass, severe apoptosis, hyperacetylated histones and preimplantation lethality in mice

(2020) Xiaosu Miao et al.   BIOLOGY OF REPRODUCTION

TEAD4 ensures postimplantation development by promoting trophoblast self-renewal: An implication in early human pregnancy loss

(2020) Biswarup Saha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of POLR1D results in embryonic lethality prior to blastocyst formation in mice

(2020) Xiaosu Miao et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

ZC3H4—a novel Cys-Cys-Cys-His-type zinc finger protein—is essential for early embryogenesis in mice†

(2020) Jianmin Su et al.   BIOLOGY OF REPRODUCTION

The enigmatic morula: mechanisms of development, cell fate determination, self-correction and implications for ART

(2019) Giovanni Coticchio et al.   HUMAN REPRODUCTION UPDATE

Dppa2 and Dppa4 directly regulate the Dux-driven zygotic transcriptional program

(2019) Mélanie Eckersley-Maslin et al.   GENES & DEVELOPMENT

A story of birth and death: mRNA translation and clearance at the onset of maternal-to-zygotic transition in mammals†

(2019) Qian-Qian Sha et al.   BIOLOGY OF REPRODUCTION

Essential roles of HDAC1 and 2 in lineage development and genome-wide DNA methylation during mouse preimplantation development

(2019) Panpan Zhao et al.   Epigenetics

MCRS1 is essential for epiblast development during early mouse embryogenesis

(2019) Wei Cui et al.   REPRODUCTION

The nucleolar protein NOP2 is required for nucleolar maturation and ribosome biogenesis during preimplantation development in mammals

(2019) Huanan Wang et al.   FASEB JOURNAL

A New Role for SMCHD1 in Life’s Master Switch and Beyond

(2019) Peter Z. Schall et al.   TRENDS IN GENETICS

Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos

(2018) Rajiv C McCoy et al.   HUMAN MOLECULAR GENETICS

Novel key roles for Structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development

(2018) Uros Midic et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

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

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mechanisms regulating zygotic genome activation

(2018) Katharine N. Schulz et al.   NATURE REVIEWS GENETICS

Med20 is essential for early embryogenesis and regulates Nanog expression

(2018) Wei Cui et al.   REPRODUCTION

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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

Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos

(2016) Sophie Petropoulos et al.   CELL

Spatiotemporal Reconstruction of the Human Blastocyst by Single-Cell Gene-Expression Analysis Informs Induction of Naive Pluripotency

(2016) Jens Durruthy-Durruthy et al.   DEVELOPMENTAL CELL

Novel mutations and structural deletions in TUBB8 : expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development

(2016) Biaobang Chen et al.   HUMAN REPRODUCTION

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

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

Mutations inTUBB8cause a multiplicity of phenotypes in human oocytes and early embryos

(2016) Ruizhi Feng et al.   JOURNAL OF MEDICAL GENETICS

Cell fate in animal and human blastocysts and the determination of viability

(2016) Anna Piliszek et al.   MOLECULAR HUMAN REPRODUCTION

Mutations in TUBB8 and Human Oocyte Meiotic Arrest

(2016) Ruizhi Feng et al.   NEW ENGLAND JOURNAL OF MEDICINE

H3K4 Methyltransferase Set1a Is A Key Oct4 Coactivator Essential for Generation of Oct4 Positive Inner Cell Mass

(2016) Lan Fang et al.   STEM CELLS

Targeted disruption of Noc4l leads to preimplantation embryonic lethality in mice

(2016) Yongli Qin et al.   Protein & Cell

Mapping the journey from totipotency to lineage specification in the mouse embryo

(2015) Chuen Yan Leung et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Maternal-zygotic knockout reveals a critical role of Cdx2 in the morula to blastocyst transition

(2015) Agnieszka Jedrusik et al.   DEVELOPMENTAL BIOLOGY

Cortical Tension Allocates the First Inner Cells of the Mammalian Embryo

(2015) Chaminda R. Samarage et al.   DEVELOPMENTAL CELL

WNT3 and membrane-associated β-catenin regulate trophectoderm lineage differentiation in human blastocysts

(2015) M. Krivega et al.   MOLECULAR HUMAN REPRODUCTION

Cell signaling and transcription factors regulating cell fate during formation of the mouse blastocyst

(2015) Tristan Frum et al.   TRENDS IN GENETICS

Zygotic Genome Activation During the Maternal-to-Zygotic Transition

(2014) Miler T. Lee et al.   Annual Review of Cell and Developmental Biology

Totipotency and lineage segregation in the human embryo

(2014) C. De Paepe et al.   MOLECULAR HUMAN REPRODUCTION

Parallels between embryo and cancer cell metabolism

(2013) Danielle G. Smith et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Polarity-Dependent Distribution of Angiomotin Localizes Hippo Signaling in Preimplantation Embryos

(2013) Yoshikazu Hirate et al.   CURRENT BIOLOGY

TEAD4 establishes the energy homeostasis essential for blastocoel formation

(2013) K. J. Kaneko et al.   DEVELOPMENT

Oct4 Cell-Autonomously Promotes Primitive Endoderm Development in the Mouse Blastocyst

(2013) Tristan Frum et al.   DEVELOPMENTAL CELL

Establishment of totipotency does not depend on Oct4A

(2013) Guangming Wu et al.   NATURE CELL BIOLOGY

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

(2013) Amparo Galan et al.   PLoS One

Angiomotin prevents pluripotent lineage differentiation in mouse embryos via Hippo pathway-dependent and -independent mechanisms

(2013) Chuen Yan Leung et al.   Nature Communications

The differential response to Fgf signalling in cells internalized at different times influences lineage segregation in preimplantation mouse embryos

(2013) S. A. Morris et al.   Open Biology

The roles of FGF and MAP kinase signaling in the segregation of the epiblast and hypoblast cell lineages in bovine and human embryos

(2012) E. W. Kuijk et al.   DEVELOPMENT

Maternal Cdx2 is dispensable for mouse development

(2012) S. Blij et al.   DEVELOPMENT

Analysis of human embryos from zygote to blastocyst reveals distinct gene expression patterns relative to the mouse

(2012) Kathy K. Niakan et al.   DEVELOPMENTAL BIOLOGY

A role for the Warburg effect in preimplantation embryo development: Metabolic modification to support rapid cell proliferation

(2012) Rebecca L. Krisher et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Altered subcellular localization of transcription factor TEAD4 regulates first mammalian cell lineage commitment

(2012) P. Home et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Metabolism of the preimplantation embryo: 40 years on

(2012) Henry J Leese   REPRODUCTION

Oct4 links multiple epigenetic pathways to the pluripotency network

(2011) Junjun Ding et al.   CELL RESEARCH

Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development

(2011) R. Vassena et al.   DEVELOPMENT

Human hypoblast formation is not dependent on FGF signalling

(2011) Mila Roode et al.   DEVELOPMENTAL BIOLOGY

Trophectoderm Lineage Determination in Cattle

(2011) Debra K. Berg et al.   DEVELOPMENTAL CELL

Initiation of trophectoderm lineage specification in mouse embryos is independent of Cdx2

(2010) G. Wu et al.   DEVELOPMENT

Gata3 regulates trophoblast development downstream of Tead4 and in parallel to Cdx2

(2010) A. Ralston et al.   DEVELOPMENT

Dynamic changes in gene expression during human early embryo development: from fundamental aspects to clinical applications

(2010) S. Assou et al.   HUMAN REPRODUCTION UPDATE

Making the blastocyst: lessons from the mouse

(2010) Katie Cockburn et al.   JOURNAL OF CLINICAL INVESTIGATION

Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage

(2010) Connie C Wong et al.   NATURE BIOTECHNOLOGY

Optimal Timing of Inner Cell Mass Isolation Increases the Efficiency of Human Embryonic Stem Cell Derivation and Allows Generation of Sibling Cell Lines

(2009) Alice E. Chen et al.   Cell Stem Cell

Does severe teratozoospermia affect blastocyst formation, live birth rate, and other clinical outcome parameters in ICSI cycles?

(2009) Dan B. French et al.   FERTILITY AND STERILITY

GATA3 Is Selectively Expressed in the Trophectoderm of Peri-implantation Embryo and Directly RegulatesCdx2Gene Expression

(2009) Pratik Home et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcriptome Profiling of Human Pre-Implantation Development

(2009) Pu Zhang et al.   PLoS One

Integration of External Signaling Pathways with the Core Transcriptional Network in Embryonic Stem Cells

(2008) Xi Chen et al.   CELL

Role of Cdx2 and cell polarity in cell allocation and specification of trophectoderm and inner cell mass in the mouse embryo

(2008) A. Jedrusik et al.   GENES & DEVELOPMENT

Cdx2 acts downstream of cell polarization to cell-autonomously promote trophectoderm fate in the early mouse embryo

(2007) Amy Ralston et al.   DEVELOPMENTAL BIOLOGY

Tead4 is required for specification of trophectoderm in pre-implantation mouse embryos

(2007) Noriyuki Nishioka et al.   MECHANISMS OF DEVELOPMENT