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Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
Kumar R, Milanesi S, Szpakowska M, Dotta L, Di Silvestre D, Trotta AM, Bello AM, Giacomelli M, Benedito M, Azevedo J, Pereira A, Cortesao E, Vacchini A, Castagna A, Pinelli M, Moratto D, Bonecchi R, Locati M, Scala S, Chevigné A, Borroni EM, Badolato R. Kumar R, et al. Among authors: giacomelli m. JCI Insight. 2023 Mar 8;8(5):e145688. doi: 10.1172/jci.insight.145688. JCI Insight. 2023. PMID: 36883568 Free PMC article.
Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE.
Lorenzini T, Giacomelli M, Scomodon O, Cortesi M, Rivellini V, Dotta L, Soresina A, Dellepiane RM, Carrabba M, Cossu F, Cancrini C, Specchia F, Giardino G, Pignata C, Plebani A, Pietrogrande MC, Badolato R; IPINET (Italian Network for Primary Immunodeficiencies). Lorenzini T, et al. Among authors: giacomelli m. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):2072-2075.e4. doi: 10.1016/j.jaip.2019.02.012. Epub 2019 Feb 20. J Allergy Clin Immunol Pract. 2019. PMID: 30797078 No abstract available.
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression.
Todaro F, Tamassia N, Pinelli M, Moratto D, Dotta L, Grassi A, Consonni F, Giacomelli M, Lionetti P, Gardiman E, Cassatella MA, Gambineri E, Canani RB, Badolato R. Todaro F, et al. Among authors: giacomelli m. Haematologica. 2019 Jul;104(7):e322-e325. doi: 10.3324/haematol.2018.202374. Epub 2019 May 9. Haematologica. 2019. PMID: 31073074 Free PMC article. No abstract available.
130 results