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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Among authors: di daniele a. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937 Free PMC article.
JNK1 and ERK1/2 modulate lymphocyte homeostasis via BIM and DRP1 upon AICD induction.
Simula L, Corrado M, Accordi B, Di Rita A, Nazio F, Antonucci Y, Di Daniele A, Caicci F, Caruana I, Soriano ME, Pigazzi M, Locatelli F, Cecconi F, Campello S. Simula L, et al. Among authors: di daniele a. Cell Death Differ. 2020 Oct;27(10):2749-2767. doi: 10.1038/s41418-020-0540-1. Epub 2020 Apr 28. Cell Death Differ. 2020. PMID: 32346136 Free PMC article.