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RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network; Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F. Fortugno P, et al. Among authors: angelucci f. Hum Mol Genet. 2022 Aug 17;31(15):2535-2547. doi: 10.1093/hmg/ddac046. Hum Mol Genet. 2022. PMID: 35220430
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F. Guerra L, et al. Among authors: angelucci f. Acta Derm Venereol. 2019 Nov 1;99(12):1192-1194. doi: 10.2340/00015555-3291. Acta Derm Venereol. 2019. PMID: 31408183 Free article. No abstract available.
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: angelucci f. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
Age-related macular degeneration: insights into inflammatory genes.
Cascella R, Ragazzo M, Strafella C, Missiroli F, Borgiani P, Angelucci F, Marsella LT, Cusumano A, Novelli G, Ricci F, Giardina E. Cascella R, et al. Among authors: angelucci f. J Ophthalmol. 2014;2014:582842. doi: 10.1155/2014/582842. Epub 2014 Nov 12. J Ophthalmol. 2014. PMID: 25478207 Free PMC article. Review.
Ectopic suicide inhibition of thioredoxin glutathione reductase.
Silvestri I, Lyu H, Fata F, Banta PR, Mattei B, Ippoliti R, Bellelli A, Pitari G, Ardini M, Petukhova V, Thatcher GRJ, Petukhov PA, Williams DL, Angelucci F. Silvestri I, et al. Among authors: angelucci f. Free Radic Biol Med. 2020 Feb 1;147:200-211. doi: 10.1016/j.freeradbiomed.2019.12.019. Epub 2019 Dec 20. Free Radic Biol Med. 2020. PMID: 31870799 Free PMC article.
194 results