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Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: gustincich s. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
Kerschbamer E, Arnoldi M, Tripathi T, Pellegrini M, Maturi S, Erdin S, Salviato E, Di Leva F, Sebestyén E, Dassi E, Zarantonello G, Benelli M, Campos E, Basson MA, Gusella JF, Gustincich S, Piazza S, Demichelis F, Talkowski ME, Ferrari F, Biagioli M. Kerschbamer E, et al. Among authors: gustincich s. Nucleic Acids Res. 2022 Dec 9;50(22):12809-12828. doi: 10.1093/nar/gkac1134. Nucleic Acids Res. 2022. PMID: 36537238 Free PMC article.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M, Spirito G, Pisciotta L, Squillario M, Servetti M, Divizia MT, Lerone M, Berloco B, Boeri S, Nobili L, Vozzi D, Sanges R, Gustincich S, Puliti A. Cerminara M, et al. Among authors: gustincich s. Front Genet. 2021 Feb 18;12:625564. doi: 10.3389/fgene.2021.625564. eCollection 2021. Front Genet. 2021. PMID: 33679889 Free PMC article.
Natural SINEUP RNAs in Autism Spectrum Disorders: RAB11B-AS1 Dysregulation in a Neuronal CHD8 Suppression Model Leads to RAB11B Protein Increase.
Zarantonello G, Arnoldi M, Filosi M, Tebaldi T, Spirito G, Barbieri A, Gustincich S, Sanges R, Domenici E, Di Leva F, Biagioli M. Zarantonello G, et al. Among authors: gustincich s. Front Genet. 2021 Nov 22;12:745229. doi: 10.3389/fgene.2021.745229. eCollection 2021. Front Genet. 2021. PMID: 34880900 Free PMC article.
Analysis of LINE1 Retrotransposons in Huntington's Disease.
Floreani L, Ansaloni F, Mangoni D, Agostoni E, Sanges R, Persichetti F, Gustincich S. Floreani L, et al. Among authors: gustincich s. Front Cell Neurosci. 2022 Jan 14;15:743797. doi: 10.3389/fncel.2021.743797. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095420 Free PMC article.
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Del Borrello G, Miano M, Micalizzi C, Lupia M, Ceccherini I, Grossi A, Cavalli A, Gustincich S, Rusmini M, Faraci M, Dell'Orso G, Ramenghi U, Mesini A, Ricci E, Schiavone M, Di Iorgi N, Dufour C. Del Borrello G, et al. Among authors: gustincich s. Front Immunol. 2022 May 19;13:893000. doi: 10.3389/fimmu.2022.893000. eCollection 2022. Front Immunol. 2022. PMID: 35663969 Free PMC article.
162 results