Article

Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Its Implications in Meiotic Differentiation

2024-01-04

Abstract excerpt

Advanced paternal age increases the risk of transmitting de novo germline mutations, particularly missense mutations activating the receptor tyrosine kinase (RTK) signaling pathway, exemplified by the FGFR3 mutation 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 increasing the fre...

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Literature Corpus work: 9d2bfea4-efdc-5f2c-8642-780c88a2d462
DOI: 10.20944/preprints202401.0347.v1

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