KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells

Female-biased embryonic death from inflammation induced by genomic instability

(2019) Adrian J. McNairn et al.   NATURE

Overlooked roles of DNA damage and maternal age in generating human germline mutations

(2019) Ziyue Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Preserving Genome Integrity During the Early Embryonic DNA Replication Cycles

(2019) Kermi et al.   Genes

Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss

(2018) Luis Alejandro Arias-Sosa et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review

(2018) Ioannis Kalogiannidis et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Synthetic lethal therapies for cancer: what’s next after PARP inhibitors?

(2018) Alan Ashworth et al.   Nature Reviews Clinical Oncology

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

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Single-cell RNA-sequencing reveals the existence of naive and primed pluripotency in pre-implantation rhesus monkey embryos

(2018) Denghui Liu et al.   GENOME RESEARCH

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

(2018) Siyang Liu et al.   CELL

Nuclear cGAS suppresses DNA repair and promotes tumorigenesis

(2018) Haipeng Liu et al.   NATURE

Transcriptome analyses of rhesus monkey preimplantation embryos reveal a reduced capacity for DNA double-strand break repair in primate oocytes and early embryos

(2017) Xinyi Wang et al.   GENOME RESEARCH

The essential kinase ATR: ensuring faithful duplication of a challenging genome

(2017) Joshua C. Saldivar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

PARP inhibitors: Synthetic lethality in the clinic

(2017) Christopher J. Lord et al.   SCIENCE

Single-Cell Landscape of Transcriptional Heterogeneity and Cell Fate Decisions during Mouse Early Gastrulation

(2017) Hisham Mohammed et al.   Cell Reports

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

(2016) Sophie Petropoulos et al.   CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A developmental coordinate of pluripotency among mice, monkeys and humans

(2016) Tomonori Nakamura et al.   NATURE

A short G1 phase imposes constitutive replication stress and fork remodelling in mouse embryonic stem cells

(2016) Akshay K. Ahuja et al.   Nature Communications

ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos

(2016) Changyu Liu et al.   Scientific Reports

Wuho Is a New Member in Maintaining Genome Stability through its Interaction with Flap Endonuclease 1

(2016) I-Cheng Cheng et al.   PLOS BIOLOGY

Filia Is an ESC-Specific Regulator of DNA Damage Response and Safeguards Genomic Stability

(2015) Bo Zhao et al.   Cell Stem Cell

Genetic Considerations in Recurrent Pregnancy Loss

(2015) K. J. Hyde et al.   Cold Spring Harbor Perspectives in Medicine

No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility

(2014) L. Aghajanova et al.   HUMAN REPRODUCTION

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

Amorphous alumina nanowire array efficiently delivers Ac-DEVD-CHO to inhibit apoptosis of dendritic cells

(2013) Lester Lampert et al.   CHEMICAL COMMUNICATIONS

DNA repair mechanisms in dividing and non-dividing cells

(2013) Teruaki Iyama et al.   DNA REPAIR

Replication Dynamics: Biases and Robustness of DNA Fiber Analysis

(2013) Hervé Técher et al.   JOURNAL OF MOLECULAR BIOLOGY

Stereospecific PARP Trapping by BMN 673 and Comparison with Olaparib and Rucaparib

(2013) J. Murai et al.   MOLECULAR CANCER THERAPEUTICS

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage

(2013) I. Manokhina et al.   MOLECULAR HUMAN REPRODUCTION

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage

(2013) L. Andreasen et al.   MOLECULAR HUMAN REPRODUCTION

Causes and consequences of replication stress

(2013) Michelle K. Zeman et al.   NATURE CELL BIOLOGY

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

(2012) Ramesh Reddy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evaluation and treatment of recurrent pregnancy loss: a committee opinion

(2012)   FERTILITY AND STERILITY

Pluripotency in the Embryo and in Culture

(2012) J. Nichols et al.   Cold Spring Harbor Perspectives in Biology

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

Double-Strand Break Repair-Independent Role for BRCA2 in Blocking Stalled Replication Fork Degradation by MRE11

(2011) Katharina Schlacher et al.   CELL

Study of DNA damage via the comet assay and base excision repair activities in rat brain neurons and astrocytes during aging

(2011) Umakanta Swain et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Selective killing of ATM- or p53-deficient cancer cells through inhibition of ATR

(2011) Philip M Reaper et al.   Nature Chemical Biology

The PARP Side of the Nucleus: Molecular Actions, Physiological Outcomes, and Clinical Targets

(2010) Raga Krishnakumar et al.   MOLECULAR CELL

PARP1 suppresses homologous recombination events in mice in vivo

(2010) A. Claybon et al.   NUCLEIC ACIDS RESEARCH

Incremental Genetic Perturbations to MCM2-7 Expression and Subcellular Distribution Reveal Exquisite Sensitivity of Mice to DNA Replication Stress

(2010) Chen-Hua Chuang et al.   PLoS Genetics

The DNA-damage response in human biology and disease

(2009) Stephen P. Jackson et al.   NATURE

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

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

Teratoma formation by human embryonic stem cells: Evaluation of essential parameters for future safety studies

(2009) Hannes Hentze et al.   Stem Cell Research

DNA repair: easy to visualize, difficult to elucidate

(2009) Zita Nagy et al.   TRENDS IN CELL BIOLOGY