A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essential meiotic gene. Functional analysis of the HSF2B...

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Sparad:
Bibliografiska uppgifter
I publikationen:eLife
Huvudupphovsmän: Felipe-Medina, Natalia, Caburet, Sandrine, Sánchez-Sáez, Fernando, Condezo, Yazmine B, de Rooij, Dirk G, Gómez-H, Laura, Garcia-Valiente, Rodrigo, Todeschini, Anne Laure, Duque, Paloma, Sánchez-Martin, Manuel Adolfo, Shalev, Stavit A, Llano, Elena, Veitia, Reiner A, Pendás, Alberto M
Materialtyp: Artigo
Språk:Inglês
Publicerad: eLife Sciences Publications, Ltd 2020
Ämnen:
Cell Biology
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7498267/
https://ncbi.nlm.nih.gov/pubmed/32845237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.56996
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