0000000000017130

AUTHOR

Ismael Henarejos-castillo

0000-0002-6190-9029

showing 2 related works from this author

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

2021

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 &lt

0301 basic medicineInfertilityOncologygenomic taxonomymedicine.medical_specialtyprecision medicineovarian failurePopulationMedicine (miscellaneous)BiologyGenoma humàArticlewhole exome sequencing03 medical and health sciences0302 clinical medicineInternal medicinemedicinesingle nucleotide variantFertility preservationeducationGeneExome sequencingeducation.field_of_study030219 obstetrics & reproductive medicinebusiness.industryRpersonalized medicinePrecision medicinemedicine.diseaseprediction modelMinor allele frequency030104 developmental biologyGinecologiaMedicineovaryPersonalized medicineinfertilitybusinessgenome variant profileJournal of Personalized Medicine
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SARS-CoV-2 infection risk assessment in the endometrium: viral infection-related gene expression across the menstrual cycle

2020

Objective To determine the susceptibility of the endometrium to infection by—and thereby potential damage from—SARS-CoV-2. Design Analysis of SARS-Cov-2 infection-related gene expression from endometrial transcriptomic data sets. Setting Infertility research department affiliated with a public hospital. Patient(s) Gene expression data from five studies in 112 patients with normal endometrium collected throughout the menstrual cycle. Intervention(s) None. Main Outcome Measure(s) Gene expression and correlation between viral infectivity genes and age throughout the menstrual cycle. Result(s) Gene expression was high for TMPRSS4, CTSL, CTSB, FURIN, MX1, and BSG; medium for TMPRSS2; and low for…

0301 basic medicineInfertilityAdultGene Expression Regulation Viralmedia_common.quotation_subjectPneumonia ViralcoronavirusACE2BiologyPeptidyl-Dipeptidase AEndometriumTMPRSS2Risk AssessmentArticleAndrology03 medical and health sciencesBetacoronavirusEndometriumYoung Adult0302 clinical medicineViral entryGene expressionObstetrics and GynaecologymedicineHumansGeneFurinPandemicsMenstrual cycleMenstrual Cyclemedia_common030219 obstetrics & reproductive medicineSARS-CoV-2Age FactorsObstetrics and GynecologyCOVID-19Middle AgedVirus Internalizationmedicine.diseaseendometrial transcriptomics030104 developmental biologymedicine.anatomical_structureReproductive Medicinebiology.proteinFemaleAngiotensin-Converting Enzyme 2Coronavirus InfectionsFertility and Sterility
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