Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ugo Sorrentino"'
Autor:
Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The fem
Externí odkaz:
https://doaj.org/article/19c63ac2433e44ae8524a2bb4611ce55
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 629-635 (2021)
Hearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic
Externí odkaz:
https://doaj.org/article/673e18410f5b4f6db80e027a73bb897d
Autor:
Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto, Alessandro Martini, Matteo Cassina
Publikováno v:
Audiology Research, Vol 11, Iss 4, Pp 582-593 (2021)
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26.
Externí odkaz:
https://doaj.org/article/1d73004211ad428e95e8f38338a17aad
Autor:
Daniela Zuccarello, Ugo Sorrentino, Valeria Brasson, Loris Marin, Chiara Piccolo, Antonio Capalbo, Alessandra Andrisani, Matteo Cassina
Publikováno v:
Journal of Assisted Reproduction and Genetics. 39:801-816
Epigenetics is the branch of genetics that studies the different mechanisms that influence gene expression without direct modification of the DNA sequence. An ever-increasing amount of evidence suggests that such regulatory processes may play a pivot
Publikováno v:
Audiology Research
Audiology Research, Vol 11, Iss 57, Pp 629-635 (2021)
Audiology Research, Vol 11, Iss 57, Pp 629-635 (2021)
Hearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic
Autor:
Eva Trevisson, Alessandro Martini, Valeria Brasson, Chiara Rigon, Ugo Sorrentino, Matteo Cassina, Francesca Boaretto, Chiara Piccolo
Publikováno v:
Audiology Research
Audiology Research, Vol 11, Iss 52, Pp 582-593 (2021)
Audiology Research, Vol 11, Iss 52, Pp 582-593 (2021)
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26.
Autor:
Ugo Sorrentino, Ilaria Gabbiato, Chiara Canciani, Davide Calosci, Chiara Rigon, Daniela Zuccarello, Matteo Cassina
Publikováno v:
Genes. 14:748
The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and restrictiv
Autor:
Ugo Sorrentino, Silvia Bellonzi, Chiara Mozzato, Valeria Brasson, Irene Toldo, Raffaele Parrozzani, Maurizio Clementi, Matteo Cassina, Eva Trevisson
Publikováno v:
Cancers
Cancers; Volume 13; Issue 24; Pages: 6336
Cancers, Vol 13, Iss 6336, p 6336 (2021)
Cancers; Volume 13; Issue 24; Pages: 6336
Cancers, Vol 13, Iss 6336, p 6336 (2021)
Simple Summary Neurofibromatosis type 1 is a relatively frequent neurocutaneous and tumor predisposition syndrome, which has been associated with a variety of neurological manifestations, including an increased incidence of seizures. Epilepsy in NF1
Publikováno v:
Free radical biologymedicine. 166
Coenzyme Q (CoQ) is a redox active lipid that plays a central role in cellular homeostasis. It was discovered more than 60 years ago because of its role as electron transporter in the mitochondrial respiratory chain. Since then it has become evident
Autor:
Edoardo Midena, Raffaele Parrozzani, Eva Trevisson, Giacomo Miglionico, Maurizio Clementi, Ugo Sorrentino, Elisabetta Viscardi, Matteo Cassina, Enrico Opocher, Luisa Frizziero
Publikováno v:
Cancers
Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting approximately 15–20% of patients. The