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Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era

França, Monica Malheiros ; Mendonca, Berenice Bilharinho

Journal of the Endocrine Society, 2020-02, Vol.4 (2), p.bvz037-bvz037 [Periódico revisado por pares]

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Título:
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era
Autor: França, Monica Malheiros ; Mendonca, Berenice Bilharinho
Assuntos: Analysis ; Follicle-stimulating hormone ; Genetic aspects ; Mini-Reviews ; Online databases
É parte de: Journal of the Endocrine Society, 2020-02, Vol.4 (2), p.bvz037-bvz037
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Abstract Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age of 40 years. Elucidating the cause of POI is a key point for diagnosing and treating affected women. Here, we review the genetic etiology of POI, highlighting new genes identified in the last few years using next-generation sequencing (NGS) approaches. We searched the MEDLINE/PubMed, Cochrane, and Web of Science databases for articles published in or translated to English. Several genes were found to be associated with POI genetic etiology in humans and animal models (SPIDR, BMPR2, MSH4, MSH5, GJA4, FANCM, POLR2C, MRPS22, KHDRBS1, BNC1, WDR62, ATG7/ATG9, BRCA2, NOTCH2, POLR3H, and TP63). The heterogeneity of POI etiology has been revealed to be remarkable in the NGS era, and discoveries have indicated that meiosis and DNA repair play key roles in POI development.
Editor: US: Oxford University Press
Idioma: Inglês

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