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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association.
Cesana M, Vaccaro L, Larsen MJ, Kibæk M, Micale L, Riccardo S, Annunziata P, Colantuono C, Di Filippo L, De Brasi D, Castori M, Fagerberg C, Acquaviva F, Cacchiarelli D. Cesana M, et al. Among authors: cacchiarelli d. Hum Genet. 2023 Mar;142(3):343-350. doi: 10.1007/s00439-022-02497-y. Epub 2022 Dec 5. Hum Genet. 2023. PMID: 36469137 Free PMC article.
Coupled RNA processing and transcription of intergenic primary microRNAs.
Ballarino M, Pagano F, Girardi E, Morlando M, Cacchiarelli D, Marchioni M, Proudfoot NJ, Bozzoni I. Ballarino M, et al. Among authors: cacchiarelli d. Mol Cell Biol. 2009 Oct;29(20):5632-8. doi: 10.1128/MCB.00664-09. Epub 2009 Aug 10. Mol Cell Biol. 2009. PMID: 19667074 Free PMC article.
miRNAs as serum biomarkers for Duchenne muscular dystrophy.
Cacchiarelli D, Legnini I, Martone J, Cazzella V, D'Amico A, Bertini E, Bozzoni I. Cacchiarelli D, et al. Among authors: d amico a. EMBO Mol Med. 2011 May;3(5):258-65. doi: 10.1002/emmm.201100133. Epub 2011 Mar 21. EMBO Mol Med. 2011. PMID: 21425469 Free PMC article.
Author Correction: Single-cell guided prenatal derivation of primary fetal epithelial organoids from human amniotic and tracheal fluids.
Gerli MFM, Calà G, Beesley MA, Sina B, Tullie L, Sun KY, Panariello F, Michielin F, Davidson JR, Russo FM, Jones BC, Lee DDH, Savvidis S, Xenakis T, Simcock IC, Straatman-Iwanowska AA, Hirst RA, David AL, O'Callaghan C, Olivo A, Eaton S, Loukogeorgakis SP, Cacchiarelli D, Deprest J, Li VSW, Giobbe GG, De Coppi P. Gerli MFM, et al. Among authors: cacchiarelli d. Nat Med. 2025 Feb;31(2):699. doi: 10.1038/s41591-025-03504-1. Nat Med. 2025. PMID: 39838120 Free PMC article. No abstract available.
Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition.
Modic M, Grosch M, Rot G, Schirge S, Lepko T, Yamazaki T, Lee FCY, Rusha E, Shaposhnikov D, Palo M, Merl-Pham J, Cacchiarelli D, Rogelj B, Hauck SM, von Mering C, Meissner A, Lickert H, Hirose T, Ule J, Drukker M. Modic M, et al. Among authors: cacchiarelli d. Mol Cell. 2019 Jun 6;74(5):951-965.e13. doi: 10.1016/j.molcel.2019.03.041. Epub 2019 Apr 29. Mol Cell. 2019. PMID: 31047794 Free PMC article.
Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission.
Nehme R, Zuccaro E, Ghosh SD, Li C, Sherwood JL, Pietilainen O, Barrett LE, Limone F, Worringer KA, Kommineni S, Zang Y, Cacchiarelli D, Meissner A, Adolfsson R, Haggarty S, Madison J, Muller M, Arlotta P, Fu Z, Feng G, Eggan K. Nehme R, et al. Among authors: cacchiarelli d. Cell Rep. 2018 May 22;23(8):2509-2523. doi: 10.1016/j.celrep.2018.04.066. Cell Rep. 2018. PMID: 29791859 Free PMC article.
YAP contributes to DNA methylation remodeling upon mouse embryonic stem cell differentiation.
Passaro F, De Martino I, Zambelli F, Di Benedetto G, Barbato M, D'Erchia AM, Manzari C, Pesole G, Mutarelli M, Cacchiarelli D, Antonini D, Parisi S, Russo T. Passaro F, et al. Among authors: cacchiarelli d, d erchia am. J Biol Chem. 2021 Jan-Jun;296:100138. doi: 10.1074/jbc.RA120.015896. Epub 2020 Dec 6. J Biol Chem. 2021. PMID: 33268382 Free PMC article.
67 results