Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Claudia Sacchetto"'
Autor:
Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra
Publikováno v:
Molecular Medicine, Vol 27, Iss 1, Pp 1-12 (2021)
Abstract Background Aberrant splicing is a common outcome in the presence of exonic or intronic variants that might hamper the intricate network of interactions defining an exon in a specific gene context. Therefore, the evaluation of the functional,
Externí odkaz:
https://doaj.org/article/d971a21a3803407a8ffea7a8c1a6edd7
Autor:
Claudia Sacchetto, Zenab Mohseni, Robin M. W. Colpaert, Libero Vitiello, Marzia De Bortoli, Indira G. C. Vonhögen, Ke Xiao, Giulia Poloni, Alessandra Lorenzon, Chiara Romualdi, Riccardo Bariani, Elisa Mazzotti, Luciano Daliento, Barbara Bauce, Domenico Corrado, Thomas Thum, Alessandra Rampazzo, Leon J. de Windt, Martina Calore
Publikováno v:
Cells, Vol 10, Iss 10, p 2578 (2021)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiac disease characterized by progressive myocardial fibro-fatty replacement, arrhythmias and risk of sudden death. Its diagnosis is challenging and often it is achieved after dis
Externí odkaz:
https://doaj.org/article/a7b2edaafb064e229e4299c489adc425
Autor:
Alessandra Rampazzo, Claudia Sacchetto, Libero Vitiello, Martina Calore, Juliët Schreurs, Robin M. W. Colpaert
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 10985, p 10985 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 10985, p 10985 (2021)
In the past two decades, genome editing has proven its value as a powerful tool for modeling or even treating numerous diseases. After the development of protein-guided systems such as zinc finger nucleases (ZFNs) and transcription activator-like eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02cbbb25eb5419917289eb3e3533dcb6
http://europepmc.org/articles/PMC8537312
http://europepmc.org/articles/PMC8537312
Autor:
Mohsin A.F. Khan, Giuseppe Lembo, Paolo Bonaldo, Daniela Carnevale, Alessandra Lorenzon, Alessandra Rampazzo, Patrizia Sabatelli, Claudia Sacchetto, Roberto Doliana, Libero Vitiello, Leon J. De Windt, Roman S. Polishchuk, Giorgia Beffagna, Paola Braghetta, Giulia Poloni, Martina Calore, Emanuela Dazzo
Publikováno v:
Cardiovascular Research, 115(4), 739-751. Oxford University Press
Aims Arrhythmogenic cardiomyopathy (AC) is one of the most common inherited cardiomyopathies, characterized by progressive fibro-fatty replacement in the myocardium. Clinically, AC manifests itself with ventricular arrhythmias, syncope, and sudden de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::029734a547c5d86c8854ece9853a64e7
https://doi.org/10.1093/cvr/cvy253
https://doi.org/10.1093/cvr/cvy253
Autor:
Riccardo Bariani, Domenico Corrado, Luciano Daliento, Ke Xiao, Indira G. C. Vonhögen, Chiara Romualdi, Barbara Bauce, Libero Vitiello, Leon J. De Windt, Alessandra Rampazzo, Marzia De Bortoli, Alessandra Lorenzon, Thomas Thum, Giulia Poloni, Robin M. W. Colpaert, Martina Calore, Elisa Mazzotti, Claudia Sacchetto, Zenab Mohseni
Publikováno v:
Cells
Volume 10
Issue 10
Cells, 10(10):2578. Multidisciplinary Digital Publishing Institute (MDPI)
Cells, Vol 10, Iss 2578, p 2578 (2021)
Volume 10
Issue 10
Cells, 10(10):2578. Multidisciplinary Digital Publishing Institute (MDPI)
Cells, Vol 10, Iss 2578, p 2578 (2021)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiac disease characterized by progressive myocardial fibro-fatty replacement, arrhythmias and risk of sudden death. Its diagnosis is challenging and often it is achieved after dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8533779f0670eb8f62ab7fae52c562ea
https://publica.fraunhofer.de/handle/publica/270062
https://publica.fraunhofer.de/handle/publica/270062
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 3404, p 3404 (2020)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
In the last decade, the generation of cardiac disease models based on human-induced pluripotent stem cells (hiPSCs) has become of common use, providing new opportunities to overcome the lack of appropriate cardiac models. Although much progress has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a6dc7765fc673c5dd8aa9f2c32786b
https://www.mdpi.com/1422-0067/21/9/3404
https://www.mdpi.com/1422-0067/21/9/3404
Autor:
Jan Dudek, Christoph Maack, Martina Calore, Edoardo Bertero, Claudia Sacchetto, Vasco Sequeira
Publikováno v:
Journal of Clinical Medicine
The normal function of the heart relies on a series of complex metabolic processes orchestrating the proper generation and use of energy. In this context, mitochondria serve a crucial role as a platform for energy transduction by supplying ATP to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0870b8ffaf56ee0352f3b0e879caa77f
https://opus.bibliothek.uni-wuerzburg.de/files/19380/jcm-08-02195.pdf
https://opus.bibliothek.uni-wuerzburg.de/files/19380/jcm-08-02195.pdf
Autor:
Claudia Sacchetto, Dario Balestra, Francesco Bernardi, Stan F.J. van de Graaf, Daniela Scalet, Mirko Pinotti
Publikováno v:
Journal of human genetics, 63, 683-686. Nature Publishing Group
Journal of human genetics
Journal of human genetics
In tyrosinaemia type 1(HT1), a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue has been reported in many patients. This aspect is generally explained by a spontaneous reversion of the mutation into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c66857687e1380c1966b0e331479a5
http://hdl.handle.net/11392/2400553
http://hdl.handle.net/11392/2400553