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2019 1
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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: pinelli m. JCI Insight. 2023 Mar 8;8(5):e145688. doi: 10.1172/jci.insight.145688. JCI Insight. 2023. PMID: 36883568 Free PMC article.
Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.
Noel DD, Marinella P, Mauro G, Tripodi SI, Pin A, Serena A, Matteo B, Giuseppe FM, Patrizia A, Stefano C, Tommasini A, Raffaele B. Noel DD, et al. Among authors: marinella p. Bioinform Biol Insights. 2021 Dec 22;15:11779322211055285. doi: 10.1177/11779322211055285. eCollection 2021. Bioinform Biol Insights. 2021. PMID: 35002226 Free PMC article.
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: pinelli 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.
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.
Parsons BD, Medina-Luna D, Scur M, Pinelli M, Gamage GS, Chilvers RA, Hamon Y, Ahmed IHI, Savary S, Makrigiannis AP, Braverman NE, Rodriguez-Alcazar JF, Latz E, Karakach TK, Di Cara F. Parsons BD, et al. Among authors: pinelli m. Cell Rep. 2024 Feb 27;43(2):113744. doi: 10.1016/j.celrep.2024.113744. Epub 2024 Feb 6. Cell Rep. 2024. PMID: 38329874 Free article.
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Saettini F, Fazio G, Moratto D, Galbiati M, Zucchini N, Ippolito D, Dinelli ME, Imberti L, Mauri M, Melzi ML, Bonanomi S, Gerussi A, Pinelli M, Barisani C, Bugarin C, Chiarini M, Giacomelli M, Piazza R, Cazzaniga G, Invernizzi P, Giliani SC, Badolato R, Biondi A. Saettini F, et al. Among authors: pinelli m. Front Immunol. 2021 Apr 16;12:673487. doi: 10.3389/fimmu.2021.673487. eCollection 2021. Front Immunol. 2021. PMID: 33936120 Free PMC article.