Differential expression of ion channel coding genes in the endometrium of women experiencing recurrent implantation failures.

Our study probed the differences in ion channel gene expression in the endometrium of women with Recurrent Implantation Failure (RIF) compared to fertile women. We analyzed the relative expression of genes coding for T-type Ca2+, ENaC, CFTR, and KCNQ1 channels in endometrial samples from 20 RIF-affected and 10 control women, aged 22-35, via microarray analysis and quantitative real-time PCR. Additionally, we examined DNA methylation in the regulatory region of KCNQ1 using ChIP real-time PCR.

Characterization of altered microRNAs related to different phenotypes of polycystic ovarian syndrome (PCOS) in serum, follicular fluid, and cumulus cells.

Objective: Polycystic ovarian syndrome (PCOS) is a metabolic syndrome in which steroidogenesis, folliculogenesis, and cellular adhesion play crucial roles in its prognosis. These pathways are controlled and regulated by some small non-coding RNAs called microRNAs (miRs). Several miRs have differential expression in PCOS compared to healthy women, and their dysregulation suggests important roles of miRs in PCOS pathophysiology.

Thymic stromal lymphopoietin (TSLP) is a potent pro-inflammatory mediator which is epigenetically deregulated in endometriosis.

Objective: Endometriosis is an estrogen-dependent disease characterized by the presence of endometriotic tissue outside the uterine cavity, the condition that immunological factors play important roles in its pathogenesis. Thymic stromal lymphopoietin (TSLP) is an interleukin 7-like cytokine that triggers dendritic cell-mediated T helper2 inflammatory responses. TSLP receptor, or cytokine receptor- like factor 2 (CRLF2), forms a functional heterodimeric complex with IL-7 receptor alpha (IL-7Rα) to bind with TSLP.

A familial case of recurrent hydatidiform mole with p.Asp108Ilefs∗30 causing mutation in KHDC3L: A genetic and clinical report.

Objective: Hydatidiform mole (HM) is defined by trophoblastic proliferation and vesicular enlargement of placental villi in which, KHDC3L gene plays a causal role.

Case Report: This report presents a clinical review and genetic screening for p.Asp108Ilefs∗30 mutation in KHDC3L gene in an affected woman with a previous history of HM and three siblings with a history of HM.

Evaluation of Toll-like receptor 3 (TLR3) signaling pathway genes and its genetic polymorphisms in ectopic and eutopic endometrium of women with endometriosis.

Objective: Toll-like receptors (TLRs, as members of the innate immune system) are expressed in the human endometrium and their aberrant regulation and expression are involved in the pathogenesis of endometrial diseases. This study is aimed at evaluation of TLR3 signaling pathway genes and its genetic changes in endometriosis patients.

Materials And Methods: Blood samples were collected from 83 endometriosis patients and 93 healthy fertile women and PCR was performed in blood-derived DNA for detection of SNP of TLR3.

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.

Background: Triploidy is one of the most common chromosome abnormalities affecting human gestation and accounts for an important fraction of first-trimester miscarriages. Triploidy has been demonstrated in a few cases of recurrent pregnancy loss (RPL) but its molecular mechanisms are unknown. This study aims to identify the genetic cause of RPL associated with fetus triploidy.

A novel gene-wide haplotype at the macrophage migration inhibitory factor (MIF) locus is associated with endometrioma.

Objective: Endometriosis is a common complex gynecological disorder that may result in infertility. Macrophage migration inhibitory factor (MIF) is a key pro-inflammatory cytokine that is overexpressed in endometriosis tissues. However, hitherto, no study tested the possible relevancy at genetic level.

Increased expression of stemness genes and in women with ovarian endometriosis versus normal endometrium: A case-control study.

Background: Endometriosis is a common, chronic inflammatory disease which is defined as an overgrowth of endometrial tissue outside the uterine cavity. The etiology of this disease is complex and multifactorial but there is a strong evidence that supports the presence of endometrial stem cells and their possible involvement in endometriosis.

Objective: In this study, we analyzed the mRNA expression of stemness gene and reconsidered three other stemness genes in women with endometriosis compared to normal endometrium.

Epigenetic role of the nuclear factor NF-Y on ID gene family in endometrial tissues of women with endometriosis: a case control study.

Background: A predominant difference between endometrial and normal cells is higher proliferation rate in the former cells which is benign. The genes of inhibitor of differentiation (ID) family play a major role in cell proliferation regulation which might be targeted by the nuclear transcription factor Y (NF-Y) for subsequent epigenetic modifications through the CCAAT box regulatory region. The present study was designed to investigate the epigenetic role of NF-Y on ID gene family in endometrial tissue of patients with endometriosis.

Macrophage migration inhibitory factor as a potential biomarker of endometriosis.

Objective: To evaluate the expression of MIF, CD74, and COX-2 in normal, ectopic, and eutopic endometrium during the menstrual cycle and to assess MIF level in peripheral blood.

Design: The expressions of MIF, CD74, and COX-2 in normal, ectopic, and eutopic endometrium were evaluated with the use of real-time polymerase chain reaction. MIF protein in peripheral blood samples was checked with the use of ELISA.