The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer

Autor: Maddalena Di Nardo, Simonetta Astigiano, Silvia Baldari, Maria Michela Pallotta, Giovanni Porta, Simona Pigozzi, Annalisa Antonini, Laura Emionite, Annalisa Frattini, Roberto Valli, Gabriele Toietta, Silvia Soddu, Antonio Musio

Publikováno v: Journal of Experimental & Clinical Cancer Research, Vol 43, Iss 1, Pp 1-13 (2024)

Abstract Background SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. Previous studies have established that SMC1A is involved in cancer development and in particular, is overexpress

Externí odkaz: https://doaj.org/article/1d93f6b1d4f7484da2cd34effd3e7fc0

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Autor: Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90%

Externí odkaz: https://doaj.org/article/e38c4f61baaf49bdb08f06050e0d36c4

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization

Autor: Cairoli, Alberto L’Abbate, Vittoria Moretti, Ester Pungolino, Giovanni Micheloni, Roberto Valli, Annalisa Frattini, Matteo Barcella, Francesco Acquati, Rolland A Reinbold, Lucy Costantino, Fulvio Ferrara, Alessandra Trojani, Mario Ventura, Giovanni Porta, Roberto

Publikováno v: Genes; Volume 14; Issue 7; Pages: 1351

Chronic myeloid leukemia (CML) is a rare myeloproliferative disorder caused by the reciprocal translocation t(9;22)(q34;q11) in hematopoietic stem cells (HSCs). This chromosomal translocation results in the formation of an extra-short chromosome 22,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::988b7ee7ce011c5acee41cb0e471ce41

Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects

Autor: Annalisa Frattini, Simona Bolamperti, Roberto Valli, Marco Cipolli, Rita Maria Pinto, Elena Bergami, Maria Rita Frau, Simone Cesaro, Michela Signo, Valentino Bezzerri, Giovanni Porta, Abdul Waheed Khan, Alessandro Rubinacci, Isabella Villa

Publikováno v: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13331
International Journal of Molecular Sciences, Vol 22, Iss 13331, p 13331 (2021)
International Journal of Molecular Sciences

Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, caused by loss-of-function mutations in the SBDS gene, a factor involved in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304f68a519115d8d4a53f82f27bcb122

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Autor: Francesco Pasquali, Antonella Minelli, Giovanni Porta, Annalisa Frattini, Abdul Waheed Khan, Giovanna D'Amico, Simone Cesaro, Cesare Danesino, Giorgia Millefanti, Marco Cipolli, Roberto Valli, Giuseppe Montalbano, Marta Galbiati, Gianni Cazzaniga, Emanuela Maserati, Carla Olivieri

In Shwachman-Diamond syndrome (SDS), deletion of the long arm of chromosome 20, del(20)(q), often acquired in bone marrow (BM), may imply a lower risk of developing myelodysplastic syndrome/acute myeloid leukaemia (MDS/AML), due to the loss of the EI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1ffa6b0444e483a93d868d951ea304
http://hdl.handle.net/10281/272263