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Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras.
Yamada M, Cai W, Martin LA, N'Tumba-Byn T, Seandel M. Yamada M, et al. PLoS Genet. 2019 May 3;15(5):e1008139. doi: 10.1371/journal.pgen.1008139. eCollection 2019 May. PLoS Genet. 2019. PMID: 31050682 Free PMC article.
De novo gain-of-function mutations in the FGF-RAS-MAPK signaling pathway are known to cause a subset of genetic diseases associated with advanced paternal age, such as Apert syndrome, achondroplasia, Noonan syndrome, and Costello syndrome. It has been hypothesized that adu …
De novo gain-of-function mutations in the FGF-RAS-MAPK signaling pathway are known to cause a subset of genetic diseases associated with adv …
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.
Goriely A, Wilkie AO. Goriely A, et al. Am J Hum Genet. 2012 Feb 10;90(2):175-200. doi: 10.1016/j.ajhg.2011.12.017. Am J Hum Genet. 2012. PMID: 22325359 Free PMC article. Review.
A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and Costello syndrome (HRAS), which we collectively term "paternal age effect" (PAE) disorders, provides a good model to study the …
A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3) …
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ, Ralph HK, Ding Z, Koelling N, Mlcochova H, Giannoulatou E, Dhami P, Paul DS, Stricker SH, Beck S, McVean G, Wilkie AOM, Goriely A. Maher GJ, et al. Genome Res. 2018 Dec;28(12):1779-1790. doi: 10.1101/gr.239186.118. Epub 2018 Oct 24. Genome Res. 2018. PMID: 30355600 Free PMC article.
This process, termed "selfish spermatogonial selection," explains the high spontaneous birth prevalence and strong paternal age-effect of disorders such as achondroplasia and Apert, Noonan and Costello syndromes, with direct experimental evidence currently available for sp …
This process, termed "selfish spermatogonial selection," explains the high spontaneous birth prevalence and strong paternal age-effect of di …