Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Francesca Nuzzo"'
Autor:
Alessandro Esposito, Tommaso Seri, Martina Breccia, Marzia Indrigo, Giuseppina De Rocco, Francesca Nuzzolillo, Vanna Denti, Francesca Pappacena, Gaia Tartaglione, Simone Serrao, Giuseppe Paglia, Luca Murru, Stefano de Pretis, Jean-Michel Cioni, Nicoletta Landsberger, Fabrizia Claudia Guarnieri, Michela Palmieri
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2795-2826 (2024)
Abstract Loss-of-function mutations in MECP2 are associated to Rett syndrome (RTT), a severe neurodevelopmental disease. Mainly working as a transcriptional regulator, MeCP2 absence leads to gene expression perturbations resulting in deficits of syna
Externí odkaz:
https://doaj.org/article/19b041262fc340da86e090da09d36f4a
Autor:
Elena Campello, Paolo Simioni, Daniela Tormene, Elisabetta Castoldi, Stefano Cagnin, Cristiana Bulato, Francesca Nuzzo, Sabrina Gavasso, Gabriele Sales, Tilman M. Hackeng, Claudia M. Radu, Francesca Sartorello, Francesco Chemello, Luca Spiezia, Luca Pagani
Publikováno v:
Blood, 137(17), 2383-2393. The American Society of Hematology
High coagulation factor VIII (FVIII) levels comprise a common risk factor for venous thromboembolism (VTE), but the underlying genetic determinants are largely unknown. We investigated the molecular bases of high FVIII levels in 2 Italian families wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459b6bbac30aea85dd4d3c3fd81945a3
https://cris.maastrichtuniversity.nl/en/publications/8f1971ed-cea1-42c4-81d6-40642b2fe4a7
https://cris.maastrichtuniversity.nl/en/publications/8f1971ed-cea1-42c4-81d6-40642b2fe4a7
Publikováno v:
British Journal of Haematology, 179(1), 163-166. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3622bc92f278ba9186cc842a4168b02
https://cris.maastrichtuniversity.nl/en/publications/d982a000-ed45-43f4-b437-2a9235e6d862
https://cris.maastrichtuniversity.nl/en/publications/d982a000-ed45-43f4-b437-2a9235e6d862
Autor:
Elisabetta Castoldi, Paolo Simioni, Nigel S. Key, Francesca Nuzzo, Kristy Lee, Simone J.H. Wielders, B. I. Nielsen, Cristiana Bulato
Publikováno v:
Haemophilia, 21(2), 241-248. Wiley
Coagulation factor V (FV) deficiency is a rare autosomal recessive bleeding disorder. We investigated a patient with severe FV deficiency (FV:C 3%) and moderate bleeding symptoms. Thrombin generation experiments showed residual FV expression in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c620027652824f35b6cddb6e5446c5
https://doi.org/10.1111/hae.12554
https://doi.org/10.1111/hae.12554
Autor:
Elvezia Maria Paraboschi, Francesca Nuzzo, Elisabetta Castoldi, Stefano Duga, Letizia Straniero, A. Pavlova
Publikováno v:
Haemophilia, 21(1), 140-147. Wiley
Factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by mutations in the F5 gene. FV-deficient patients in whom no mutation or only one mutation is found may harbour large gene rearrangements, which are not detected by conv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23f0c16504bccf99db52f5506676ac
https://doi.org/10.1111/hae.12536
https://doi.org/10.1111/hae.12536
Autor:
Luca Spiezia, Tilman M. Hackeng, Elisabetta Castoldi, Francesca Nuzzo, Paolo Simioni, Claudia M. Radu, Marco Baralle
Publikováno v:
Blood, 122(23), 3825-3831. The American Society of Hematology
Antisense molecules are emerging as a powerful tool to correct splicing defects. Recently, we identified a homozygous deep-intronic mutation (F5 c.1296+268A>G) activating a cryptic donor splice site in a patient with severe coagulation factor V (FV)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a7571c4b782b43d09bba5896fe2349
https://doi.org/10.1182/blood-2013-04-499657
https://doi.org/10.1182/blood-2013-04-499657