0000000000017131
AUTHOR
Alejandro Alemán
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure
Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case–control (n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants <
P–294 Mapping COVID–19 affected genes from blood in a Window of implantation co-expression network reveals a potentially compromised landscape
Abstract Study question Could the transcriptomic and functional landscape of the window of implantation be compromised by SARS-COV–2 infection? Summary answer Some of the main genes and pathways involved in the window of implantation are affected in blood of COVID–19 patients and receptivity could be affected. What is known already There is a concern whether SARS-COV–2 can disrupt assisted reproduction treatments (ARTs) and fertility in short and long terms. In the endometrium, it was found that genes related to the viral infection (ACE2, TMPRSS2/4, CTSL/B) are involved in menstrual cycle progression, especially in the Window of Implantation (WOI). However, there are no studies describing t…
Uterine disorders affecting female fertility: what are the molecular functions altered in endometrium?
[EN]: Objective:To determine the molecular functions of genes exhibiting altered expression in the endometrium of women with uterine disorders affecting fertility. Design: Retrospective analysis integrating case and control data from multiple cohorts with endometrium gene expression in women with uterine disorders. Setting: Infertility research department affiliated with a university hospital. Patient(s): Two hundred and forty women, 121 of whom were controls, 119 of whom had endometrial adenocarcinoma (ADC), recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or stage II–IV endometriosis. Intervention(s): None. Main Outcome Measure(s): Genomewide gene expression and alter…
Transcriptional changes through menstrual cycle reveal a global transcriptional derepression underlying the molecular mechanism involved in the window of implantation
The human endometrium is a dynamic tissue that only is receptive to host the embryo during a brief time in the middle secretory phase, called the window of implantation (WOI). Despite its importance, regulation of the menstrual cycle remains incompletely understood. The aim of this study was to characterize the gene cooperation and regulation of menstrual cycle progression, to dissect the molecular complexity underlying acquisition of endometrial receptivity for a successful pregnancy, and to provide the scientific community with detailed gene co-expression information throughout the menstrual cycle on a user-friendly web-tool database. A retrospective gene co-expression analysis was perfor…