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Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.
Piccolo P, Sabatino V, Mithbaokar P, Polishchuk E, Hicks J, Polishchuk R, Bacino CA, Brunetti-Pierri N. Piccolo P, et al. Among authors: sabatino v. Mol Genet Genomic Med. 2019 Sep;7(9):e844. doi: 10.1002/mgg3.844. Epub 2019 Jul 27. Mol Genet Genomic Med. 2019. PMID: 31350823 Free PMC article.
Enhancing anti-EGFRvIII CAR T cell therapy against glioblastoma with a paracrine SIRPγ-derived CD47 blocker.
Martins TA, Kaymak D, Tatari N, Gerster F, Hogan S, Ritz MF, Sabatino V, Wieboldt R, Bartoszek EM, McDaid M, Gerber A, Buck A, Beshirova A, Heider A, Shekarian T, Mohamed H, Etter MM, Schmassmann P, Abel I, Boulay JL, Saito Y, Mariani L, Guzman R, Snijder B, Weiss T, Läubli H, Hutter G. Martins TA, et al. Among authors: sabatino v. Nat Commun. 2024 Nov 9;15(1):9718. doi: 10.1038/s41467-024-54129-w. Nat Commun. 2024. PMID: 39521782 Free PMC article.
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, Li D, Zackai E, Vetro A, Barba C, Guerrini R, Whalen S, Keren B, Khan A, Jing D, Palomares Bralo M, Rikeros Orozco E, Hao Q, Schlott Kristiansen B, Zheng B, Donnelly D, Clowes V, Zweier M, Papik M, Siegel G, Sabatino V, Mocera M, Horn AHC, Sticht H, Rauch A. Boonsawat P, et al. Among authors: sabatino v. Am J Hum Genet. 2024 Sep 5;111(9):1994-2011. doi: 10.1016/j.ajhg.2024.07.016. Epub 2024 Aug 20. Am J Hum Genet. 2024. PMID: 39168120 Free PMC article.
66 results