Zobrazeno 1 - 10
of 432
pro vyhledávání: '"P, Danesino"'
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27
Publikováno v:
Pediatric Reports, Vol 15, Iss 1, Pp 129-142 (2023)
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are ACVRL1, ENG, SMAD4, and GDF2, all encoding for protei
Externí odkaz:
https://doaj.org/article/a1c28f9b63144cd3a9ce844a7ba9544b
Autor:
Cesare Danesino, Monica Gualtierotti, Matteo Origi, Angelina Cistaro, Michela Malacarne, Matteo Massidda, Katia Bencardino, Domenico Coviello, Giovanni Albani, Irene Giovanna Schiera, Alexandra Liava, Andrea Guala
Publikováno v:
Diseases, Vol 12, Iss 1, p 9 (2023)
Background: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs. Methods: In a
Externí odkaz:
https://doaj.org/article/617252f7c1684f74982d2bc68ee9ae5a
Akademický článek
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Autor:
Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamura, Roberto Valli
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome
Externí odkaz:
https://doaj.org/article/3fc874865da740418e5b38c9fe52d387
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
Autor:
Sabrina Ravaglia, Nicola Barbarito, Alberto Malovini, Serena Cirio, Anna Pichiecchio, Paola De Filippi, Cesare Danesino, Annalisa Carlucci
Publikováno v:
Pulmonology, Vol 27, Iss 6, Pp 566-568 (2021)
Externí odkaz:
https://doaj.org/article/7c575d61875645df85de05b3e417cc50
Autor:
M. Grandis, L. Obici, M. Luigetti, C. Briani, F. Benedicenti, G. Bisogni, M. Canepa, F. Cappelli, C. Danesino, G. M. Fabrizi, S. Fenu, G. Ferrandes, C. Gemelli, F. Manganelli, A. Mazzeo, L. Melchiorri, F. Perfetto, L. G. Pradotto, P. Rimessi, G. Tini, S. Tozza, L. Trevisan, D. Pareyson, P. Mandich
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onset
Externí odkaz:
https://doaj.org/article/06f1cac9f11446abaa06ec95182536f4
Autor:
Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino, Franco Locatelli, Emanuela Maserati, Francesco Pasquali, Roberto Valli
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-9 (2020)
Abstract Background Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10), and an interstitial
Externí odkaz:
https://doaj.org/article/f3bc050564244f20b7a6bcde606e1c8f
Autor:
Sabrina Ravaglia, Rachele de Giuseppe, Annalisa Carlucci, Susan Jehne, Grazia Crescimanno, Lara Ahmad, Matteo Paoletti, Gabriele Clemente, Anna Pichiecchio, Rosella Bazzano, Serena Cirio, Enza Maria Valente, Cesare Danesino, Paola De Filippi, Alice Tartara, Hellas Cena
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: Late-onset Pompe disease (LOPD) is an autosomal-recessive metabolic myopathy caused by deficiency of the lysosomal enzyme Acid Alpha—Glucosidase (GAA), leading to glycogen accumulation in proximal and axial muscles, and in the diaphragm
Externí odkaz:
https://doaj.org/article/b58c381ce9be439eb06f162ad191b496