Article
Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation.
Genes - 30 Jan 2024
Striedner Yasmin, Arbeithuber Barbara, Moura Sofia, Nowak Elisabeth, Reinhardt Ronja, Muresan Leila, Salazar Renato, Ebner Thomas, Tiemann-Boege Irene
Abstract excerpt
Advanced paternal age increases the risk of transmitting de novo germline mutations, particularly missense mutations activating the receptor tyrosine kinase (RTK) signalling pathway, as exemplified by the FGFR3 mutation, which is linked to achondroplasia (ACH). This risk is attributed to the expansion of spermatogonial stem cells carrying the mutation, forming sub-clonal clusters in the ageing testis, thereby...
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