Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Irene Bottillo"'
Autor:
Irene Bottillo, Luigi Laino, Alessia Azzarà, Carla Lintas, Ilaria Cassano, Vincenzo Di Lazzaro, Francesca Ursini, Francesco Motolese, Simone Bargiacchi, Daniela Formicola, Paola Grammatico, Fiorella Gurrieri
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2024)
IntroductionFolliculin, encoded by FLCN gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the Birt–Hogg–Dubé (BHD) syndrome, characterized by follicle hamartomas, kidney tumors and pneumothorax.Patient an
Externí odkaz:
https://doaj.org/article/99b843a6634346d09b124a847f9bf761
Autor:
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disr
Externí odkaz:
https://doaj.org/article/7223d29c406d434eb9f28e0b160c6ccd
Autor:
Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disease, characterised by the aplasia of vagina and uterus in women with a 46,XX karyotype. Most cases are sporadic, but familial recurrence has also been described. Herein, we invest
Externí odkaz:
https://doaj.org/article/e347b9c84de24178941301ab8bedf269
Autor:
Sai Wang, Yixiu Wang, Jinchao Wang, Zhiying Liu, Ruixiao Zhang, Xiaomeng Shi, Yue Han, Wencong Guo, Irene Bottillo, Leping Shao
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be
Externí odkaz:
https://doaj.org/article/25a8d26997c04adea5cc359db013d80b
Autor:
Umberto Malapelle, Francesco Pepe, Pasquale Pisapia, Roberta Sgariglia, Mariantonia Nacchio, Caterina De Luca, Rosanna Lacalamita, Stefania Tommasi, Rosamaria Pinto, Grazia Palomba, Giuseppe Palmieri, Davide Vacirca, Massimo Barberis, Irene Bottillo, Paola Grammatico, Lucia Rosalba Grillo, Valerio Costa, Riccardo Smeraglio, Dario Bruzzese, Giancarlo Troncone
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Background: Next-generation sequencing (NGS) needs to be validated and standardized to ensure that cancer patients are reliably selected for target treatments. In Italy, NGS is performed in several institutions and harmonization of wet and dry proced
Externí odkaz:
https://doaj.org/article/1fc67acac42f4a7d8cd333500eda0b27
Autor:
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous
Externí odkaz:
https://doaj.org/article/1929f74ee9b24f06ab9a7cb5dc679ac3
Publikováno v:
BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (
Externí odkaz:
https://doaj.org/article/b20dd60b2b0a46dc801a7bfb97a2d4e1
Autor:
Andrea Gerbino, Irene Bottillo, Serena Milano, Martina Lipari, Roberta De Zio, Silvia Morlino, Maria Grazia Mola, Giuseppe Procino, Federica Re, Elisabetta Zachara, Paola Grammatico, Maria Svelto, Monica Carmosino
Publikováno v:
Cellular Physiology and Biochemistry, Vol 44, Iss 4, Pp 1559-1577 (2017)
Background/Aims: Truncating LMNA gene mutations occur in many inherited cardiomyopathy cases, but the molecular mechanisms involved in the disease they cause have not yet been systematically investigated. Here, we studied a novel frameshift LMNA vari
Externí odkaz:
https://doaj.org/article/0303a5d654164150b0089dedd1ad0c82
Autor:
Chiara Nicolazzo, Alain Gelibter, Irene Bottillo, Francesca Belardinilli, Simona Pisegna, Gianluigi De Renzi, Daniele Marinelli, Paola Grammatico, Enrico Cortesi, Giuseppe Giannini, Paola Gazzaniga
Publikováno v:
Diagnostics, Vol 11, Iss 12, p 2196 (2021)
Although molecular profiling at diagnosis has traditionally relied on direct sampling of neoplastic tissue, cancer clonal evolution represents a critical obstacle to use primary tissue biopsies to guide clinical decision-making at the time of progres
Externí odkaz:
https://doaj.org/article/bd2a1c2dc5bb48b29f154ecfb554a37b
Autor:
Irene Bottillo, Daniela D’Angelantonio, Viviana Caputo, Alessandro Paiardini, Martina Lipari, Carmelilia De Bernardo, Silvia Majore, Marco Castori, Elisabetta Zachara, Federica Re, Paola Grammatico
Publikováno v:
Data in Brief, Vol 7, Iss , Pp 607-613 (2016)
Genomic technologies are redefining the understanding of genotype–phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article pr
Externí odkaz:
https://doaj.org/article/d58b4d23c74d4869a07aad78f3382959