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Page 1
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
TFEB controls vascular development by regulating the proliferation of endothelial cells.
Doronzo G, Astanina E, Corà D, Chiabotto G, Comunanza V, Noghero A, Neri F, Puliafito A, Primo L, Spampanato C, Settembre C, Ballabio A, Camussi G, Oliviero S, Bussolino F. Doronzo G, et al. Among authors: spampanato c. EMBO J. 2019 Feb 1;38(3):e98250. doi: 10.15252/embj.201798250. Epub 2018 Dec 27. EMBO J. 2019. PMID: 30591554 Free PMC article.
Lysosome signaling controls the migration of dendritic cells.
Bretou M, Sáez PJ, Sanséau D, Maurin M, Lankar D, Chabaud M, Spampanato C, Malbec O, Barbier L, Muallem S, Maiuri P, Ballabio A, Helft J, Piel M, Vargas P, Lennon-Duménil AM. Bretou M, et al. Among authors: spampanato c. Sci Immunol. 2017 Oct 27;2(16):eaak9573. doi: 10.1126/sciimmunol.aak9573. Sci Immunol. 2017. PMID: 29079589
Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.
Cancemi D, Iannuzzi A, Perucatti A, Montano L, Capozzi O, Spampanato C, Ventruto ML, Urciuoli M, Iannuzzi L, Ventruto V. Cancemi D, et al. Among authors: spampanato c. J Appl Genet. 2017 Nov;58(4):481-486. doi: 10.1007/s13353-017-0412-7. Epub 2017 Oct 6. J Appl Genet. 2017. PMID: 29019057
A case of polimalformed fetus with a microdeletion of CTNNA3 gene.
Cancemi D, Urciuoli M, Morelli F, Lonardo MC, Lonardo V, Spampanato C, Ventruto M, Ventruto V, Sica C. Cancemi D, et al. Among authors: spampanato c. J Prenat Med. 2016 Jul-Dec;10(3-4):20-22. doi: 10.11138/jpm/2016.10.3.020. J Prenat Med. 2016. PMID: 28725342 Free PMC article.
Early outcome of high energy Laser (Excimer) facilitated coronary angioplasty ON hARD and complex calcified and balloOn-resistant coronary lesions: LEONARDO Study.
Ambrosini V, Sorropago G, Laurenzano E, Golino L, Casafina A, Schiano V, Gabrielli G, Ettori F, Chizzola G, Bernardi G, Spedicato L, Armigliato P, Spampanato C, Furegato M. Ambrosini V, et al. Among authors: spampanato c. Cardiovasc Revasc Med. 2015 Apr-May;16(3):141-6. doi: 10.1016/j.carrev.2015.02.002. Epub 2015 Feb 11. Cardiovasc Revasc Med. 2015. PMID: 25708003 Clinical Trial.
Simvastatin reduces melanoma progression in a murine model.
Zanfardino M, Spampanato C, De Cicco R, Buommino E, De Filippis A, Baiano S, Barra A, Morelli F. Zanfardino M, et al. Among authors: spampanato c. Int J Oncol. 2013 Dec;43(6):1763-70. doi: 10.3892/ijo.2013.2126. Epub 2013 Oct 4. Int J Oncol. 2013. PMID: 24101161 Free PMC article.
20 results