Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations

(2020) Jing Lin et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

(2020) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The subcortical maternal complex protein Nlrp4f is involved in cytoplasmic lattice formation and organelle distribution

(2019) Dandan Qin et al.   DEVELOPMENT

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

(2019) Wei Zheng et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility

(2018) Qing Sang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

(2018) Marie Christou‐Kent et al.   EMBO Molecular Medicine

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

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

Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation

(2018) An-Cong Wang et al.   GYNECOLOGICAL ENDOCRINOLOGY

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest

(2018) Lingli Huang et al.   HUMAN REPRODUCTION

Human oocyte maturation arrest caused by a novel missense mutation in TUBB8

(2018) Jingjing Xiang et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

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

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest

(2017) Lingli Huang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

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

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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

The human knockout phenotype ofPADI6is female sterility caused by cleavage failure of their fertilized eggs

(2016) S. Maddirevula et al.   CLINICAL GENETICS

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

Zygotic Genome Activation During the Maternal-to-Zygotic Transition

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

Identification of a human subcortical maternal complex

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

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

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

Regulation of mouse oocyte microtubule and organelle dynamics by PADI6 and the cytoplasmic lattices

(2010) Rui Kan et al.   DEVELOPMENTAL BIOLOGY

Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

(2008) P. Yurttas et al.   DEVELOPMENT