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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Micale L, et al. Among authors: carissimo a. Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906501 Free article.
Single-Cell RNA Sequencing Analysis: A Step-by-Step Overview.
Slovin S, Carissimo A, Panariello F, Grimaldi A, Bouché V, Gambardella G, Cacchiarelli D. Slovin S, et al. Among authors: carissimo a. Methods Mol Biol. 2021;2284:343-365. doi: 10.1007/978-1-0716-1307-8_19. Methods Mol Biol. 2021. PMID: 33835452
microRNAs as biomarkers in Pompe disease.
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G. Tarallo A, et al. Among authors: carissimo a. Genet Med. 2019 Mar;21(3):591-600. doi: 10.1038/s41436-018-0103-8. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997386 Free article.
Esrrb guides naive pluripotent cells through the formative transcriptional programme.
Carbognin E, Carlini V, Panariello F, Chieregato M, Guerzoni E, Benvegnù D, Perrera V, Malucelli C, Cesana M, Grimaldi A, Mutarelli M, Carissimo A, Tannenbaum E, Kugler H, Hackett JA, Cacchiarelli D, Martello G. Carbognin E, et al. Among authors: carissimo a. Nat Cell Biol. 2023 May;25(5):643-657. doi: 10.1038/s41556-023-01131-x. Epub 2023 Apr 27. Nat Cell Biol. 2023. PMID: 37106060 Free PMC article.
Adipocyte precursor cells from first degree relatives of type 2 diabetic patients feature changes in hsa-mir-23a-5p, -193a-5p, and -193b-5p and insulin-like growth factor 2 expression.
Mirra P, Desiderio A, Spinelli R, Nigro C, Longo M, Parrillo L, D'Esposito V, Carissimo A, Hedjazifar S, Smith U, Formisano P, Miele C, Raciti GA, Beguinot F. Mirra P, et al. Among authors: carissimo a. FASEB J. 2021 Apr;35(4):e21357. doi: 10.1096/fj.202002156RRR. FASEB J. 2021. PMID: 33710685
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC. Conte I, et al. Among authors: carissimo a. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45. doi: 10.1073/pnas.1401464112. Epub 2015 Jun 8. Proc Natl Acad Sci U S A. 2015. PMID: 26056285 Free PMC article.
An atlas of gene expression and gene co-regulation in the human retina.
Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D. Pinelli M, et al. Among authors: carissimo a. Nucleic Acids Res. 2016 Jul 8;44(12):5773-84. doi: 10.1093/nar/gkw486. Epub 2016 May 27. Nucleic Acids Res. 2016. PMID: 27235414 Free PMC article.
43 results