P
Paolo Vezzoni
Researcher at National Research Council
Publications - 179
Citations - 8603
Paolo Vezzoni is an academic researcher from National Research Council. The author has contributed to research in topics: Gene & Osteopetrosis. The author has an hindex of 46, co-authored 179 publications receiving 8035 citations. Previous affiliations of Paolo Vezzoni include Icahn School of Medicine at Mount Sinai & Humanitas University.
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Journal ArticleDOI
Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase
Duilio Brugnoni,Luigi D. Notarangelo,Alessandra Sottini,Paolo Airò,M Pennacchio,Evelina Mazzolari,Simona Signorini,Fabio Candotti,Anna Villa,Patrizia Mella,Paolo Vezzoni,Roberto Cattaneo,Alberto G. Ugazio,Luisa Imberti +13 more
TL;DR: It is suggested that residual Jak3 expression and function or other Jak3-independent signals may also permit the generation of CD4+ T cells that undergo in vivo clonal expansion in humans; however, these mechanisms do not allow development of CD8+T cells, nor do they fully restore the functional properties of CD 4+ T lymphocytes.
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Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
Eleonora Palagano,Harry C. Blair,Alessandra Pangrazio,Irina L. Tourkova,Dario Strina,Andrea Angius,Gianmauro Cuccuru,Manuela Oppo,Paolo Uva,Wim Van Hul,Eveline Boudin,Andrea Superti-Furga,Flavio Faletra,Agostino Nocerino,Matteo Ferrari,Guido Grappiolo,Marta Monari,Alessandro Montanelli,Paolo Vezzoni,Anna Villa,Cristina Sobacchi +20 more
TL;DR: In this article, the authors found a single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site.
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Cell fusion is a physiological process in mouse liver
TL;DR: By creating chimeric mice bearing distinct reporter genes (LacZ and GFP), it is shown that in an unperturbed setting, hepatocytes carrying both markers can be detected via immunohistochemistry and polymerase chain reaction analysis.
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Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
TL;DR: A comparative study of a panel of mutations that were identified in the noncanonical plant homeodomain (PHD) of Rag2 in patients with SCID or OS reveals the various deleterious effects of PHD Rag2 mutations and demonstrates the crucial role of this domain in regulating antigen receptor gene assembly.
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Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland
Ileana Zucchi,Luca Bini,Diego Albani,R. Valaperta,Sabrina Liberatori,R. Raggiaschi,C. Montagna,Lucia Susani,Ottavia Barbieri,Vitaliano Pallini,Paolo Vezzoni,Renato Dulbecco +11 more
TL;DR: The in vitro system is a model for lobulo-alveolar development, and the genes identified in the pathway of dome formation are likely to be involved in the early differentiation steps occurring in the rat mammary gland during pregnancy and lactation.