Marco Cipolli

1. Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
   2018/09/10 by Jacopo Morini, Lucia Nacci, Gabriele Babini +11 · 11 citations
   Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Neonatal Health and Biochemistry
2. Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
   2018/12/26 by Roberto Valli, Antonella Minelli, Marta Galbiati +16 · 16 citations
   Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment
3. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells
   2023/10/24 by Marco Cipolli, Christian Boni, Marianna Penzo +25 · 9 citations
   Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Pneumocystis jirovecii pneumonia detection and treatment