STUDY QUESTION What is the subcellular localization in human oocytes and preimplantation embryos, of the two maternal-effect proteins, NLRP7 and KHDC3L, responsible for recurrent hydatidiform moles (RHMs)? SUMMARY ANSWER NLRP7 and KHDC3L localize to the oocyte cytoskeleton and are polar and absent from the cell-to-cell contact region in early preimplantation embryos. WHAT IS KNOWN ALREADY N...

STUDY QUESTION Are mutations in NLRP2/7 (NACHT, LRR and PYD domains-containing protein 2/7) or KHDC3L (KH Domain Containing 3 Like) associated with recurrent pregnancy loss (RPL) or infertility? SUMMARY ANSWER We found no evidence for mutations in NLRP2/7 or KHDC3L in unexplained RPL or infertility. WHAT IS KNOWN ALREADY Mutations in NLRP7 and KHDC3L are known to cause biparental hydatidifo...

Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...

Maternal effect genes play essential roles in early embryonic development. However, the mechanisms by which maternal effect genes regulate mammalian early embryonic development remain largely unknown. Recently, we identified a subcortical maternal complex (SCMC) that is composed of at least four proteins encoded by Mater, Floped, Tle6 and Filia and is critical for mouse preimplantation developm...

Women with mutation in both alleles of the NLRP7 or C6orf221/KHDC3L genes are predisposed to diploid biparental moles, but it has also been suggested that mutation in these genes can predispose to diploid androgenetic or triploid moles and to other kinds of reproductive wastage. We have investigated the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP...

Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...

conclusions the growth rate of information in bioinformatics databases could facilitate studies of live organisms prior to observation studies. two different protein classes could be causative agents of one disease. however, two related diseases from one disease group could consist of different protein classes. future research in the field of proteomics could allow modern insight to reshuffling...

background hepatitis c virus (hcv) is the major cause of chronic liver disease. hcv is a single stranded positive sense rna of approximately 9.6 kb. because of high conservativeness of 5΄untranslated region of hcv genome, it is widely used for virus genotyping. different methods are used for the virus genotyping, but all involve some difficulties. objectives the aim of the present study was to ...