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Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
Cipolli M, Boni C, Penzo M, Villa I, Bolamperti S, Baldisseri E, Frattini A, Porta G, Api M, Selicato N, Roccia P, Pollutri D, Marinelli Busilacchi E, Poloni A, Caporelli N, D'Amico G, Pegoraro A, Cesaro S, Oyarbide U, Vella A, Lippi G, Corey SJ, Valli R, Polini A, Bezzerri V. Cipolli M, et al. Among authors: roccia p. Br J Haematol. 2024 Jan;204(1):292-305. doi: 10.1111/bjh.19134. Epub 2023 Oct 24. Br J Haematol. 2024. PMID: 37876306
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, Cipolli M, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R. Khan AW, et al. Among authors: roccia p. Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w. Mol Cytogenet. 2021. PMID: 34819134 Free PMC article.
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A. Taha I, et al. Among authors: roccia p. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC article.
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
Micheloni G, Frattini A, Donini M, Dusi S, Leszl A, Di Meglio A, Pigazzi M, Musio A, Zecca M, Mina T, Rabusin M, Roccia P, Bernasconi P, Dambruoso I, Minelli A, Montalbano G, Acquati F, Porta G, Valli R, Pasquali F. Micheloni G, et al. Among authors: roccia p. Genes (Basel). 2023 Nov 16;14(11):2085. doi: 10.3390/genes14112085. Genes (Basel). 2023. PMID: 38003028 Free PMC article. Review.