Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure

Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure

Abstract Background Ovarian failure (OF) is a multifactorial, complex disease presented by up to 1% of women under 40 years of age. Despite 90% of patients being diagnosed with idiopathic OF, the underlying molecular mechanisms remain unknown, making it difficult to personalize treatments for these...

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Main Authors: Ismael Henarejos-Castillo, Francisco José Sanz, Cristina Solana-Manrique, Patricia Sebastian-Leon, Ignacio Medina, José Remohi, Nuria Paricio, Patricia Diaz-Gimeno
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Reproductive Biology and Endocrinology
Subjects:
Ovarian failure
Primary ovarian insufficiency
Ovarian function
Whole-exome sequencing
Single nucleotide variant
Variant prioritization
Online Access:https://doi.org/10.1186/s12958-024-01325-4
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https://doi.org/10.1186/s12958-024-01325-4

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