Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Rosella Mari"'
Autor:
Nicole Ziliotto, Marcello Baroni, Sofia Straudi, Fabio Manfredini, Rosella Mari, Erica Menegatti, Rebecca Voltan, Paola Secchiero, Paolo Zamboni, Nino Basaglia, Giovanna Marchetti, Francesco Bernardi
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
BackgroundFactor XII (FXII) activation initiates the intrinsic (contact) coagulation pathway. It has been recently suggested that FXII could act as an autoimmunity mediator in multiple sclerosis (MS). FXII depositions nearby dentritic cells were dete
Externí odkaz:
https://doaj.org/article/96beec0994854133aee0eca307d92e6b
Autor:
Dario Balestra, Daniela Scalet, Franco Pagani, Malgorzata Ewa Rogalska, Rosella Mari, Francesco Bernardi, Mirko Pinotti
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
In cellular models we have demonstrated that a unique U1snRNA targeting an intronic region downstream of a defective exon (Exon-specific U1snRNA, ExSpeU1) can rescue multiple exon-skipping mutations, a relevant cause of genetic disease. Here, we expl
Externí odkaz:
https://doaj.org/article/90c3efde633b4dcfbe7fa4af8ed1d478
Autor:
Alessio Branchini, Lara Rizzotto, Guglielmo Mariani, Mariasanta Napolitano, Mario Lapecorella, Muriel Giansily-Blaizot, Rosella Mari, Alessandro Canella, Mirko Pinotti, Francesco Bernardi
Publikováno v:
Haematologica, Vol 97, Iss 5 (2012)
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3–5% and 2.7±0.4% were found in prothrombin time-based and activated factor X (F
Externí odkaz:
https://doaj.org/article/8544a4911daa4c26a411ea0865c250f4
Autor:
Alessio Branchini, Rosella Mari, Francesco Puzzo, F. Nicolosi, Francesco Bernardi, Francesco Burini, Donato Gemmati, Mirko Pinotti, Marcello Baroni
Publikováno v:
Journal of Thrombosis and Haemostasis. 13:1468-1474
SummaryBackground The homologous coagulation factor X (FX), VII (FVII), IX (FIX) and protein C (PC) display striking differences in the carboxyl-terminus, with that of FX being the most extended. This region is essential for FVII, FIX and PC secretio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb827bb6e6800a54392197849194fbb
https://doi.org/10.1111/jth.13034
https://doi.org/10.1111/jth.13034
Autor:
S. Moratelli, Maria Luisa Serino, Elisa Orioli, Rosella Mari, Jlenia Marchesini, Alessandro Pecoraro, Antonio Cuneo, L. Ansani, Marco Vigliano, M. E. Grossi, Giulia Zeri, Roberto Ferrari, Donato Gemmati, Mirko Pinotti
Publikováno v:
Thrombosis and Haemostasis. 114:123-132
SummaryAfter acute myocardial infarction (MI) the damaged heart has to be repaired. Factor XIII (FXIII) is considered a key molecule in promoting heart healing. FXIII deficiency was associated to cardiac rupture and anomalous remodelling in MI. Durin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe4557715c6af2d6a3a04fe674410a73
https://doi.org/10.1160/th14-11-0952
https://doi.org/10.1160/th14-11-0952
Autor:
Maria Patrizia Bicocchi, Rosella Mari, Maria Gabriella Mazzucconi, Matteo Campioni, Francesca Biondo, Alessio Branchini, Mirko Pinotti, Francesco Bernardi
Publikováno v:
Febs Letters
Highlights • Disease-causing missense mutations mainly impair protein biosynthesis and/or function. • The p.Y450C mutation in factor IX (FIX) provided a model to study their interplay. • The mutation in the carboxyl-terminus impairs both FIX pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ecf5b915eb316eb8eed19996e815754
https://doi.org/10.1016/j.febslet.2013.08.019
https://doi.org/10.1016/j.febslet.2013.08.019
Autor:
Rosella Mari, Giancarlo Castaman, Alessio Branchini, Matteo Campioni, Mattia Ferrarese, Mirko Pinotti, Francesco Bernardi
Publikováno v:
Blood. 129(16)
Drug-induced readthrough over premature stop codons (PTCs) is a potentially attractive therapy for genetic disorders, but a wide outcome variability has been observed. Through expression studies, we investigated the responsiveness to the readthrough-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d88161ed6f5f6353c16340da899a0d
https://pubmed.ncbi.nlm.nih.gov/28196793
https://pubmed.ncbi.nlm.nih.gov/28196793
Autor:
Hodeib Hossam Abd El Mohsein, Rosella Mari, Marco Vigliano, Francesco Burini, Maria Luisa Serino, Francesco Parmeggiani, Donato Gemmati
Factor XIII (FXIII) is a key molecule in the field of blood coagulation and in the last decades it has weakened attention within the field of angiogenesis and tissue repair. FXIII positively influences wound healing in several tissues by exerting mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126ced7f23b5d57427e666592901d046
http://hdl.handle.net/11392/2335578
http://hdl.handle.net/11392/2335578
Autor:
Rosella Mari, Silvia Lombardi, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti, Alessio Branchini
Essentials Potentially null homozygous Factor(F)7 nonsense mutations are associated to variable bleeding symptoms. Readthrough of p.Ser112X (life-threatening) and p.Cys132X (moderate) stop codons was investigated. Readthrough-mediated insertion of wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bcbe34de02532976d8dc3cbdf670fc8
http://hdl.handle.net/11392/2358864
http://hdl.handle.net/11392/2358864
Publikováno v:
Blood Coagulation & Fibrinolysis. 8:118-123
In order to define the thrombophilic conditions related to activated protein C resistance (APC-R) and protein S (PS) deficiency and to detect the possible combination of these defects, we studied nine unrelated patients selected because of low antico
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a200d057cfa46c20943b5b5080a511
https://doi.org/10.1097/00001721-199703000-00006
https://doi.org/10.1097/00001721-199703000-00006