Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Francesca Del Vecchio Blanco"'
Autor:
Irene Sambri, Marco Ferniani, Giulia Campostrini, Marialuisa Testa, Viviana Meraviglia, Mariana E. G. de Araujo, Ladislav Dokládal, Claudia Vilardo, Jlenia Monfregola, Nicolina Zampelli, Francesca Del Vecchio Blanco, Annalaura Torella, Carolina Ruosi, Simona Fecarotta, Giancarlo Parenti, Leopoldo Staiano, Milena Bellin, Lukas A. Huber, Claudio De Virgilio, Francesco Trepiccione, Vincenzo Nigro, Andrea Ballabio
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a
Externí odkaz:
https://doaj.org/article/c0d4353e26904abf8698a54fb8a9d373
Autor:
Emanuela Marchese, Marianna Caterino, Davide Viggiano, Armando Cevenini, Salvatore Tolone, Ludovico Docimo, Valentina Di Iorio, Francesca Del Vecchio Blanco, Roberta Fedele, Francesca Simonelli, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia
Publikováno v:
iScience, Vol 25, Iss 11, Pp 105230- (2022)
Summary: Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying BBS10 mutations. Twenty-nine patients with BBS and 30 controls underwent a serum-targeted metabolomic analysis.
Externí odkaz:
https://doaj.org/article/1da7ce450eea4c19b9c36a083be8d1fa
Autor:
Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro, Giulio Piluso
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases,
Externí odkaz:
https://doaj.org/article/ba3fdb08416c48afb6f264b6ad67f487
Autor:
Fabiola Di Dato, Donatella Capalbo, Rita Mirra, Francesca Del Vecchio Blanco, Mariacarolina Salerno, Raffaele Iorio
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Neonatal cholestasis (NC) may be due to multiple surgical and non-surgical causes, some of which are potentially fatal. The list of potential causes of NC is long, and the systematic search for each of them is challenging in infants, especially when
Externí odkaz:
https://doaj.org/article/02e38417cc2f4d5083a6607124b47c9e
Autor:
Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237803 (2020)
A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model. First, because dystrop
Externí odkaz:
https://doaj.org/article/dd4e40db90834c1f95e7d94240ed2a19
Autor:
Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e63536 (2013)
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected memb
Externí odkaz:
https://doaj.org/article/094e0859813e441b897a4cc116b55a82
Autor:
Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52264 (2012)
Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease. In fact, various disorders, such as t
Externí odkaz:
https://doaj.org/article/e27358dcfc8a4d88ae6fc455dca8ef90
Autor:
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo, Luisa Politano, Vincenzo Nigro, Giulio Piluso
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 11; Pages: 9241
Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767e2533e854d7b59edb274df63a57d2
https://hdl.handle.net/11591/499192
https://hdl.handle.net/11591/499192
Autor:
Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, Floriana Secondulfo, Neha Gupta, Giancarlo Blasio, Rosa Maria Pollastro, Angela Cervesato, Giulio Piluso, Giuseppe Gigliotti, Annalaura Torella, Vincenzo Nigro, Alessandra F. Perna, Giovambattista Capasso, Francesco Trepiccione
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 764
Mutations in COL4A3-A5 cause a spectrum of glomerular disorders, including thin basement membrane nephropathy (TBMN) and Alport syndrome (AS). The wide application of next-generation sequencing (NGS) in the last few years has revealed that mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa13b92426ed1b517fe93e47931f29
https://doi.org/10.3390/genes14030764
https://doi.org/10.3390/genes14030764
Autor:
Francesca Del Vecchio Blanco, Giovambattista Capasso, Vincenzo Nigro, Giovanna Capolongo, Giancarlo Blasio, Alessandra F. Perna, Miriam Zacchia
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Genetic testing has changed the clinical management of inherited kidney diseases patients, improving prognosis, surveillance and therapy. On the other hand, it has put geneticists and clinicians in front of new challenges, as the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f72df3ed7d50922b131abe9407e12dae
https://doi.org/10.1093/ndt/gfab080.0017
https://doi.org/10.1093/ndt/gfab080.0017