Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Antonina Sidoti"'
Autor:
Concetta Scimone, Luigi Donato, Simona Alibrandi, Alfredo Conti, Carlo Bortolotti, Antonino Germanò, Concetta Alafaci, Sergio Lucio Vinci, Rosalia D'Angelo, Antonina Sidoti
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35126- (2024)
Arteriovenous malformation of the brain (bAVM) is a vascular phenotype related to brain defective angiogenesis. Involved vessels show impaired expression of vascular differentiation markers resulting in the arteriolar to venule direct shunt. In order
Externí odkaz:
https://doaj.org/article/c9be579429e44d4eb233a5310f562192
Autor:
Luigi Donato, Concetta Scimone, Simona Alibrandi, Maria Vadalà, Massimo Castellucci, Vincenza Maria Elena Bonfiglio, Sergio Zaccaria Scalinci, Giorgia Abate, Rosalia D'Angelo, Antonina Sidoti
Publikováno v:
Heliyon, Vol 10, Iss 14, Pp e34756- (2024)
Aims: Maternally inherited diabetes and deafness (MIDD) is a complex disorder characterized by multiorgan clinical manifestations, including diabetes, hearing loss, and ophthalmic complications. This pilot study aimed to elucidate the intricate inter
Externí odkaz:
https://doaj.org/article/5b8803cb0a974519b66a2a31913b032a
Autor:
Luigi Donato, Concetta Scimone, Simona Alibrandi, Domenico Mordà, Ivan Anchesi, Sergio Zaccaria Scalinci, Carmela Rinaldi, Rosalia D'Angelo, Antonina Sidoti
Publikováno v:
Heliyon, Vol 10, Iss 8, Pp e29828- (2024)
Aims: This pilot study investigates the potential pathogenic role of G-quadruplex (G4) structures in RPGR-associated retinal degeneration, starting from a case of suspected X-linked form affected family. We hypothesize that the stabilization of these
Externí odkaz:
https://doaj.org/article/18b3128e43eb47e1b7f3a8ed2ebae1a5
Autor:
Concetta Scimone, Simona Alibrandi, Luigi Donato, Concetta Alafaci, Antonino Germanò, Sergio L. Vinci, Rosalia D’Angelo, Antonina Sidoti
Publikováno v:
RNA Biology, Vol 19, Iss 1, Pp 852-865 (2022)
By regulating several phases of gene expression, RNA editing modifications contribute to maintaining physiological RNA expression levels. RNA editing dysregulation can affect RNA molecule half-life, coding/noncoding RNA interaction, alternative splic
Externí odkaz:
https://doaj.org/article/e0b49f6d91e04dc791ebe92e6963e43e
Autor:
Luigi Donato, Domenico Mordà, Concetta Scimone, Simona Alibrandi, Rosalia D’Angelo, Antonina Sidoti
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3258 (2023)
In the early stages of Alzheimer–Perusini’s disease (AD), individuals often experience vision-related issues such as color vision impairment, reduced contrast sensitivity, and visual acuity problems. As the disease progresses, there is a connecti
Externí odkaz:
https://doaj.org/article/ca20258810424cad8a8a1c14e4b018c4
Autor:
Luigi Donato, Domenico Mordà, Concetta Scimone, Simona Alibrandi, Rosalia D’Angelo, Antonina Sidoti
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 2035 (2023)
Alzheimer–Perusini’s (AD) disease represents the most spread dementia around the world and constitutes a serious problem for public health. It was first described by the two physicians from whom it took its name. Nowadays, we have extensively exp
Externí odkaz:
https://doaj.org/article/a9c9a5044892476fac6f15558e0e88d4
Autor:
Luigi Donato, Concetta Scimone, Simona Alibrandi, Maria Vadalà, Massimo Castellucci, Domenico Mordà, Carmela Rinaldi, Rosalia D’Angelo, Antonina Sidoti
Publikováno v:
Biology and Life Sciences Forum, Vol 21, Iss 1, p 26 (2023)
Mitochondrial pathologies are clinically composite and show highly variable phenotypes amongst all inherited disorders, mainly due to their heteroplasmic nature. Mutations in mitochondrial DNA (mtDNA) and the nuclear genome (gDNA), or both, have been
Externí odkaz:
https://doaj.org/article/828a385e05114cc99329d73eb3b5647a
Autor:
Luigi Donato, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Angela Dascola, Alessandro Calamuneri, Rosalia D'Angelo, Antonina Sidoti
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278857 (2022)
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to
Externí odkaz:
https://doaj.org/article/58f1bd429df8425a95d2a86941634a66
Autor:
Concetta Scimone, Rosalia D'Angelo, Simona Alibrandi, Fabiana Nicita, Luigi Donato, Antonina Sidoti
Publikováno v:
Journal of Biological Research (2021)
Cerebral cavernous malformations (CCM) are vascular lesions affecting brain microvessels. While molecular bases of the sporadic condition are not yet well elucidated, familial forms arise following mutations at three different loci KRIT1, CCM2 and PD
Externí odkaz:
https://doaj.org/article/7a6e1435b18d46b69636a70e5c423b94
Autor:
Luigi Donato, Concetta Scimone, Simona Alibrandi, Sergio Zaccaria Scalinci, Carmela Rinaldi, Rosalia D’Angelo, Antonina Sidoti
Publikováno v:
Antioxidants, Vol 11, Iss 10, p 1967 (2022)
Oxidative stress represents one of the principal causes of inherited retinal dystrophies, with many related molecular mechanisms still unknown. We investigated the posttranscriptional RNA editing landscape of human retinal pigment epithelium cells (R
Externí odkaz:
https://doaj.org/article/9b0be1ddb6bc4c16956a09cedf487a41