Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Giulia Pianigiani"'
Autor:
Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto
Publikováno v:
Genes, Vol 13, Iss 11, p 2023 (2022)
Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a
Externí odkaz:
https://doaj.org/article/bb855db63c164a25862519c3958679a0
Autor:
Vincenzo Maria Perriello, Maria Caterina Rotiroti, Ilaria Pisani, Stefania Galimberti, Gaia Alberti, Giulia Pianigiani, Valerio Ciaurro, Andrea Marra, Marcella Sabino, Valentina Tini, Giulio Spinozzi, Federica Mezzasoma, Francesco Morena, Sabata Martino, Domenico Salerno, Julian François Ashby, Brittany Wingham, Marta Serafini, Maria Paola Martelli, Brunangelo Falini, Andrea Biondi, Sarah Tettamanti
Publikováno v:
Blood advances.
Acute Myeloid Leukemia (AML) still represents an unmet clinical need for adult and pediatric patients. Adoptive cell therapy by chimeric antigen receptor (CAR)-engineered T cells demonstrated a high therapeutic potential, but further development is r
Autor:
Giulia Pianigiani, Andrea Gagliardi, Federica Mezzasoma, Francesca Rocchio, Valentina Tini, Barbara Bigerna, Paolo Sportoletti, Simona Caruso, Andrea Marra, Sara Peruzzi, Eleonora Petito, Giulio Spinozzi, Sharon Shacham, Yosef Landesman, Concetta Quintarelli, Paolo Gresele, Franco Locatelli, Maria Paola Martelli, Brunangelo Falini, Lorenzo Brunetti
Publikováno v:
Blood advances. 6(22)
NPM1 is the most frequently mutated gene in adults with acute myeloid leukemia (AML). The interaction between mutant NPM1 (NPM1c) and exportin-1 (XPO1) causes aberrant cytoplasmic dislocation of NPM1c and promotes the high expression of homeobox (HOX
Autor:
Roberta Ranieri, Giulia Pianigiani, Sofia Sciabolacci, Vincenzo Maria Perriello, Andrea Marra, Valeria Cardinali, Sara Pierangeli, Francesca Milano, Ilaria Gionfriddo, Lorenzo Brunetti, Maria Paola Martelli, Brunangelo Falini
Publikováno v:
Leukemia. 36(10)
Nucleophosmin 1 (NPM1) is a nucleus-cytoplasmic shuttling protein which is predominantly located in the nucleolus and exerts multiple functions, including regulation of centrosome duplication, ribosome biogenesis and export, histone assembly, mainten
Autor:
Vincenzo Maria Perriello, Maria Caterina Rotiroti, Ilaria Pisani, Stefania Galimberti, Gaia Alberti, Giulia Pianigiani, Valerio Ciaurro, Andrea Marra, Marcella Sabino, Valentina Tini, Federica Mezzasoma, Francesco Morena, Sabata Martino, Domenico Salerno, Julian François Ashby, Brittany Wingham, Marta Serafini, Maria Paola Martelli, Brunangelo Falini, Andrea Biondi, Sarah Tettamanti
Publikováno v:
Blood. 140:10237-10238
Autor:
Giulia Pianigiani, Andrea Gagliardi, Valentina Tini, Barbara Bigerna, Simona Caruso, Andrea Marra, Sharon Shacham, Yosef Landesman, Concetta Quintarelli, Franco Locatelli, Maria Paola Martelli, Brunangelo Falini, Lorenzo Brunetti
Publikováno v:
Clinical Lymphoma Myeloma and Leukemia. 22:S212-S213
Autor:
Franco Pagani, Susana Igreja, Giulia Pianigiani, Stefano Donega, Margarida D. Amaral, Malgorzata Rogalska
Publikováno v:
Human Mutation. 41:2143-2154
In cystic fibrosis (CF), the correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. In this study, we focused on 10 common mutations/variants 711+3A>G/C, 711+5G>A, TG13T3, TG13T5, TG12T5, 1863C>
Autor:
Giulia Pianigiani, Francesca Rocchio, Sara Peruzzi, Vibeke Andresen, Barbara Bigerna, Daniele Sorcini, Michela Capurro, Bjørn Tore Gjertsen, Paolo Sportoletti, Mauro Di Ianni, Maria Paola Martelli, Lorenzo Brunetti, Brunangelo Falini
Publikováno v:
Leukemia
Nature-Leukemia
Nature-Leukemia
publishedVersion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d99db09be92598ffe4918ac860bd3eb2
https://hdl.handle.net/11250/3041594
https://hdl.handle.net/11250/3041594
Autor:
Giulia Pianigiani, Andrea Gagliardi, Federica Mezzasoma, Francesca Rocchio, Valentina Tini, Barbara Bigerna, Paolo Sportoletti, Simona Caruso, Andrea Marra, Giulio Spinozzi, Sharon Shacham, Yosef Landesman, Concetta Quintarelli, Franco Locatelli, Maria Paola Martelli, Brunangelo Falini, Lorenzo Brunetti
Publikováno v:
bioRxiv
NPM1 encodes for a nucleolar multifunctional protein and is the most frequently mutated gene in adult acute myeloid leukemia (AML). NPM1 mutations cause the aberrant accumulation of mutant NPM1 (NPM1c) in the cytoplasm of leukemic cells, that is medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a86d72c23d5bef294a6a467a729049
https://doi.org/10.1101/2021.12.11.472216
https://doi.org/10.1101/2021.12.11.472216
Autor:
Giulia Pianigiani, Andrea Gagliardi, Valentina Tini, Barbara Bigerna, Simona Caruso, Andrea Marra, Sharon Shacham, Yosef Landesman, Concetta Quintarelli, Franco Locatelli, Maria Paola Martelli, Brunangelo Falini, Lorenzo Brunetti
Publikováno v:
Clinical Lymphoma Myeloma and Leukemia. 22:S128