Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Giuseppina Conteduca"'
Autor:
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa, Simona Baldassari, Federico Zara, Gilberto Filaci, Domenico Coviello, Michela Malacarne
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103324- (2024)
Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a SoS patient carrying the pathogenic va
Externí odkaz:
https://doaj.org/article/f7c12dd6f9e343cf8cf32593503f2226
Autor:
Ilaria Frattale, Rachele Sarnataro, Martina Siracusano, Assia Riccioni, Cinzia Galasso, Massimiliano Valeriani, Giuseppina Conteduca, Domenico Coviello, Luigi Mazzone, Romina Moavero
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundSotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. SoS population might present cognitive impairment and a spectrum of behavioral character
Externí odkaz:
https://doaj.org/article/2354074acd1a4a7d9e135a7de48a698f
Autor:
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa, Michela Malacarne, Domenico Coviello, Federico Zara, Simona Baldassari
Publikováno v:
Stem Cell Research, Vol 66, Iss , Pp 103007- (2023)
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and in view of future therapeutic approaches for its e
Externí odkaz:
https://doaj.org/article/57416b47298e4535b6ceb56a59e64108
Autor:
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Publikováno v:
Genes, Vol 14, Iss 4, p 810 (2023)
The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical featu
Externí odkaz:
https://doaj.org/article/3ee9b8c94c9e473d9b79eb8b8c94bc2d
Autor:
Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico Coviello, Sotos Collaborative Group
Publikováno v:
Genes, Vol 14, Iss 2, p 295 (2023)
Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinic
Externí odkaz:
https://doaj.org/article/6d4d8ba00ca046eb8f3ab95d723f50b5
Autor:
Giuseppina Conteduca, Davide Cangelosi, Simona Coco, Michela Malacarne, Chiara Baldo, Alessia Arado, Rute Pinto, Barbara Testa, Domenico A. Coviello
Publikováno v:
Life, Vol 12, Iss 7, p 988 (2022)
An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular mechanisms affected by NSD1 mutations are largely uncharacterized. In order to assess the impact o
Externí odkaz:
https://doaj.org/article/4e21a40845144d309055a35a4bcb4c1e
Autor:
Gilles Fransolet, Grégory Ehx, Joan Somja, Loïc Delens, Muriel Hannon, Joséphine Muller, Sophie Dubois, Pierre Drion, Jo Caers, Stéphanie Humblet-Baron, Philippe Delvenne, Yves Beguin, Giuseppina Conteduca, Frédéric Baron
Publikováno v:
Journal of Hematology & Oncology, Vol 9, Iss 1, Pp 1-12 (2016)
Abstract Background Previous studies have demonstrated that regulatory T cells (Tregs) play a protective role in the pathogenesis of chronic graft-versus-host disease (cGVHD). Tregs constitutively express the gene of the transcription factor Foxp3 wh
Externí odkaz:
https://doaj.org/article/f17e79a645174e27851b2ef4aacee551
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 8, p 1920 (2019)
Antigen-mimicking peptide (mimotope)-based vaccines are one of the most promising forms of active-immunotherapy. The main drawback of this approach is that it induces antibodies that react poorly with the nominal antigen. The aim of this study was to
Externí odkaz:
https://doaj.org/article/0c7f0573197a4c7d90fdf25b1eb82bdd
Autor:
Martina Siracusano, Assia Riccioni, Ilaria Frattale, Lucrezia Arturi, Caterina Dante, Cinzia Galasso, Leonardo Emberti Gialloreti, Giuseppina Conteduca, Barbara Testa, Michela Malacarne, Domenico Coviello, Luigi Mazzone
Publikováno v:
American Journal of Medical Genetics Part A.
Publikováno v:
Autoimmunity Reviews. 17:325-330
The autoimmune regulator gene (AIRE) is a transcription factor expressed both in the thymus, by medullary thymic epithelial cells, and in secondary lymphoid organs. AIRE controls the local transcription of organ- specific proteins typically expressed