Mutations in
            <i>OOEP</i>
            and
            <i>NLRP5</i>
            identified in infertile patients with early embryonic arrest

Jin, Jiamin; Hu, Zhanhong; Fan, Heng‐Yu; Zhang, Yinli

doi:10.1002/humu.24448

Cited by 17 publications

(3 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Second, PADI6 is one of the genes encoding the subcortical maternal complex (SCMC), which is necessary for oocyte maturation and early embryonic development. Therefore, the loss and mutation of PADI6 destabilizes SCMC, resulting in abnormal oocyte maturation, fertilization failure, early embryonic developmental arrest, multilocus imprinting disorder, molar pregnancy, miscarriage, and female infertility (32,(190)(191)(192)(193)(194)(195)(196)(197)(198)(199)(200)(201)(202)(203)(204)(205)(206)(207).…”

Section: The Padi Family and Reproductive Development-related Diseasesmentioning

confidence: 99%

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

2023

View full text Add to dashboard Cite

The peptidyl arginine deiminase (PADI) family is a calcium ion-dependent group of isozymes with sequence similarity that catalyze the citrullination of proteins. Histones can serve as the target substrate of PADI family isozymes, and therefore, the PADI family is involved in NETosis and the secretion of inflammatory cytokines. Thus, the PADI family is associated with the development of inflammatory autoimmune diseases and cancer, reproductive development, and other related diseases. In this review, we systematically discuss the role of the PADI family in the pathogenesis of various diseases based on studies from the past decade to provide a reference for future research.

show abstract

Section: The Padi Family and Reproductive Development-related Diseasesmentioning

confidence: 99%

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

2023

View full text Add to dashboard Cite

show abstract

“…The OOEP gene, similar to other genes of the complex SCMC, contributes to the symmetrical division of the zygote and is involved in the activation of the zygotic genome and also in the process of reparation DNA double-strand breaks (DSBs) [ 70 ]. Biallelic variants in OOEP lead to different phenotypes, including early embryonic developmental arrest, MLID [ 17 , 71 ].…”

Section: Genes Of Scmc Componentsmentioning

confidence: 99%

Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest

Соловова

Chernykh

2022

Genes

View full text Add to dashboard Cite

Various pathogenic factors can lead to oogenesis failure and seriously affect both female reproductive health and fertility. Genetic factors play an important role in folliculogenesis and oocyte maturation but still need to be clarified. Oocyte maturation is a well-organized complex process, regulated by a large number of genes. Pathogenic variants in these genes as well as aneuploidy, defects in mitochondrial genome, and other genetic and epigenetic factors can result in unexplained infertility, early pregnancy loss, and recurrent failures of IVF/ICSI programs due to poor ovarian response to stimulation, oocyte maturation arrest, poor gamete quality, fertilization failure, or early embryonic developmental arrest. In this paper, we review the main genes, as well as provide a description of the defects in the mitochondrial genome, associated with female infertility.

show abstract

“…These NLRP genes are expressed in germ cells and pre-implantation embryos, which are not functionally identical [25]. For example, NLRP5 mutations affect early embryonic development [26]. Evidence has shown that NLRP7 involves in oocyte maturation, endometrial remodelling and placental development during early pregnancy [27].…”

Section: Introductionmentioning

confidence: 99%

NLRP2 in health and disease

Zhang,

Xing,

et al. 2023

Immunology

View full text Add to dashboard Cite

NLR family pyrin domain containing 2 (NLRP2) is a novel member of the Nod‐like receptor (NLR) family. However, our understanding of NLRP2 has long been ambiguous. NLRP2 may have a role in the innate immune response, but its ‘specific’ functions remain controversial. Although NLRP2 can initiate inflammasome and promote inflammation, it can also downregulate inflammatory signals. Additionally, NLRP2 has been reported to function in the reproductive system and shows high expression in the placenta. However, the exact role of NLRP2 in the reproductive system is unclear. Here, we highlight the most current progress on NLRP2 in inflammasome activation, effector function and regulation of nuclear factor‐κB. And we discuss functions of NLRP2 in inflammatory diseases, reproductive disorders and the potential implication of NLRP2 in human diseases.

show abstract

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Cited by 17 publications

References 34 publications

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

Role of the PADI family in inflammatory autoimmune diseases and cancers: A systematic review

Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest

NLRP2 in health and disease

Contact Info

Product

Resources

About