Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Barbara Testa"'
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:
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:
Michela Biancolella, Nabonswindé Lamoussa Marie Ouédraogo, Nayi Zongo, Théodora Mahoukèdè Zohoncon, Barbara Testa, Barbara Rizzacasa, Andrea Latini, Chiara Conte, Tégwindé Rebeca Compaore, Charlemagne Marie Rayang-Newendé Ouedraogo, Si Simon Traore, Jacques Simpore, Giuseppe Novelli
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
Abstract Background Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women in Africa after cervical cancer. Even if the epidemiological data are now aligned with those relating to in
Externí odkaz:
https://doaj.org/article/8fdad443dbf249c6b6c95d580c84b33e
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
Publikováno v:
Frontiers in Veterinary Science, Vol 8 (2021)
The measurement and treatment of acute pain in animals is essential from a welfare perspective. Valid pain-related outcome measures are also crucial for ensuring reliable and translatable findings in veterinary clinical trials. The short form of the
Externí odkaz:
https://doaj.org/article/043535def32d4a4ab24aea7b1be3882a
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:
Magda Gioia, Giulia Vindigni, Barbara Testa, Sofia Raniolo, Giovanni Francesco Fasciglione, Massimiliano Coletta, Silvia Biocca
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141270 (2015)
The lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1) is a scavenger receptor responsible for ox-LDL recognition, binding and internalization, which is up-regulated during atherogenesis. Its activation triggers endothelium dysfunction a
Externí odkaz:
https://doaj.org/article/4f2828f150b04f5895493dfa39d37fd0
Publikováno v:
Testa, B, Biggi, M, Byrne, C A & Bell, A 2023, ' Assessment of Magnetic Resonance Imaging Artefacts Caused By Equine Anaesthesia Equipment : A Cadaver Study ', Journal of equine veterinary science, vol. 126, 104492, pp. 1-24 . https://doi.org/10.1016/j.jevs.2023.104492
Acquisition of magnetic resonance images of the equine limb is still sometimes conducted under general anaesthesia. Despite low-field systems allow the use of standard anaesthetic equipment, possible interferences of the extensive electronic componen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79212e134846adc8e0f4611aeacaa60a
https://www.pure.ed.ac.uk/ws/files/344787375/1_s2.0_S0737080623002824_main.pdf
https://www.pure.ed.ac.uk/ws/files/344787375/1_s2.0_S0737080623002824_main.pdf
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.