Zobrazeno 1 - 10
of 1 005
pro vyhledávání: '"A. Forlino"'
Autor:
Garibaldi, Nadia a, b, Besio, Roberta b, Pirota, Valentina c, Albini, Benedetta d, Colombo, Giorgio c, Galinetto, Pietro d, Doria, Filippo c, Carriero, Alessandra a, ⁎, 1, Forlino, Antonella b, ⁎⁎, 1
Publikováno v:
In Life Sciences 15 January 2025 361
Autor:
Sara Penna, Alessandra Zecchillo, Martina Di Verniere, Elena Fontana, Valeria Iannello, Eleonora Palagano, Stefano Mantero, Andrea Cappelleri, Elena Rizzoli, Ludovica Santi, Laura Crisafulli, Marta Filibian, Antonella Forlino, Luca Basso-Ricci, Serena Scala, Eugenio Scanziani, Thorsten Schinke, Francesca Ficara, Cristina Sobacchi, Anna Villa, Valentina Capo
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionAutosomal recessive osteopetrosis (ARO) is a rare genetic disease, characterized by increased bone density due to defective osteoclast function. Most of the cases are due to TCIRG1 gene mutation, leading to severe bone phenotype and death
Externí odkaz:
https://doaj.org/article/66acccbe99664eafa53503d6ac2fd709
Autor:
De Leonibus, Chiara, Maddaluno, Marianna, Ferriero, Rosa, Besio, Roberta, Cinque, Laura, Lim, Pei Jin, Palma, Alessandro, De Cegli, Rossella, Gagliotta, Salvatore, Montefusco, Sandro, Iavazzo, Maria, Rohrbach, Marianne, Giunta, Cecilia, Polishchuk, Elena, Medina, Diego Louis, Di Bernardo, Diego, Forlino, Antonella, Piccolo, Pasquale, Settembre, Carmine
Publikováno v:
In Developmental Cell 19 August 2024 59(16):2035-2052
Autor:
Muraz, J.F., Santos, D., Ghetta, V., Giraud, J., Guillaudin, O., Sortais, P., Thuillier, T., Marpaud, J., Chala, M., Forlino, M., Hervé, M.
Publikováno v:
In Nuclear Inst. and Methods in Physics Research, A May 2024 1062
Autor:
Chiara Gramegna Tota, Alessandra Leone, Asifa Khan, Antonella Forlino, Antonio Rossi, Chiara Paganini
Publikováno v:
Biomolecules, Vol 14, Iss 9, p 1064 (2024)
Desbuquois dysplasia type 1 (DBQD1) is a recessive chondrodysplasia caused by mutations in the CANT1 gene, encoding for the Golgi Calcium-Activated Nucleotidase 1 (CANT1). The enzyme hydrolyzes UDP, the by-product of glycosyltransferase reactions, bu
Externí odkaz:
https://doaj.org/article/d9c90a9e00354b30b7298d5b36892585
Autor:
Andersen, Jane Dahl, Lyster, Marie Louise, Holst, Mette Kathrine, Henriksen, Daniel Pilsgaard, Christensen, Anders, Laursen, Christian B., Forlino, Antonella, Folkestad, Lars
Publikováno v:
In Chest
Autor:
Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-5 (2023)
Graphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of
Externí odkaz:
https://doaj.org/article/077e278d65f247e7b8af5b5934cd8fe4
Autor:
María Laura Pomares, Carolina Gómez Martín, Francisco Rivera, Susana Apoloni, Pablo Avila, Carolina Muratore, Mariano Forlino, Luisina Castagnino, Bárbara Piedimonte, Claudio Daniel González
Publikováno v:
Revista de la Sociedad Argentina de Diabetes, Vol 57, Iss 3 (2023)
Introducción: diversos estudios sugieren que existe una diferencia en el estrés percibido (EP) entre sexos en la población general. Sin embargo, hay escasas publicaciones que describan las diferencias de percepción del estrés entre sexos durante
Externí odkaz:
https://doaj.org/article/b3f653b57dee49008ed1a0f66dd4009d
Autor:
Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.
Publikováno v:
In Bone October 2023 175
Autor:
Daponte, Valentina, Tonelli, Francesca, Masiero, Cecilia, Syx, Delfien, Exbrayat-Héritier, Chloé, Biggiogera, Marco, Willaert, Andy, Rossi, Antonio, Coucke, Paul J., Ruggiero, Florence, Forlino, Antonella
Publikováno v:
In Matrix Biology August 2023 121:105-126