TY - JOUR AU - Franca, Monica M AU - Condezo, Yazmine B AU - Elzaiat, Maëva AU - Felipe-Medina, Natalia AU - Sánchez Sáez, Fernando AU - Muñoz, Sergio AU - Sainz-Urruela, Raquel AU - Martín-Hervás, M Rosario AU - García-Valiente, Rodrigo AU - Sánchez Martín, Manuel Adolfo AU - Astudillo, Aurora AU - Mendez, Juan AU - Llano Cuadra, María Elena AU - Veitia, Reiner A AU - Mendonca, Berenice B AU - Pendás, Alberto M. PY - 2022 SN - 1476-5403 UR - http://hdl.handle.net/10366/169196 AB - [EN]Primary ovarian insufficiency (POI) causes female infertility by abolishing normal ovarian function. Although its genetic etiology has been extensively investigated, most POI cases remain unexplained. Using whole-exome sequencing, we identified a... LA - eng KW - Meiosis KW - POI fertility KW - DNA repair KW - Chromosome Aberrations KW - DNA Repair KW - Meiosis KW - Primary Ovarian Insufficiency KW - Fibroblasts KW - DNA-Binding Proteins KW - Humans KW - Mice TI - A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions DO - 10.1038/s41418-022-01021-z T2 - Cell Death & Differentiation VL - 29 M2 - 2347 ER -