Publications by authors named "P A Farinelli"
Article Synopsis
- - Diamond-Blackfan anemia syndrome (DBA) is caused by mutations in over 20 ribosomal protein genes, and this study specifically investigates the role of RPL17, which encodes a large ribosomal subunit protein.
- - Patients with RPL17 mutations exhibited typical DBA symptoms and erythroid proliferation defects, with further experiments showing that these mutations are pathogenic and lead to anemia in model organisms.
- - The research found that RPL17 variants result in defects in ribosomal RNA maturation and suggest that DBA primarily stems from insufficient ribosome production rather than changes in ribosome structure, as indicated by altered translation profiles in cell lines.
CDKN2A pathogenic variants are well known to be associated with cutaneous melanoma and noncutaneous tumors (NCTs). Herein, we investigated the temporal correlation between the first cutaneous melanoma and NCT both in CDKN2A mutation carriers (MUT) and in wild-type melanoma patients, a poorly explored issue to date. Two hundred forty-five cutaneous melanoma patients were genotyped for the CDKN2A gene and divided into 51 MUT and 189 wild-type; the remaining five variant carriers were excluded from the analyses.
View Article and Find Full Text PDFRetinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability.
View Article and Find Full Text PDFThe kinesin-3 motor KIF13B functions in endocytosis, vesicle transport and regulation of ciliary length and signaling. Direct binding of the membrane-associated guanylate kinase (MAGUK) DLG1 to the MAGUK-binding stalk domain of KIF13B relieves motor autoinhibition and promotes microtubule plus-end-directed cargo transport. Here, we characterize angiomotin (AMOT) isoform 2 (p80, referred to as Ap80) as a novel KIF13B interactor that promotes binding of another MAGUK, the polarity protein and Crumbs complex component PALS1, to KIF13B.
View Article and Find Full Text PDFArticle Synopsis
- * Non-Italian patients, particularly South East Asians and North Africans, significantly decreased their hospital access, with decreases of 70.4% and 90.0% respectively.
- * The study suggests that hospital policies and media influence public perception, particularly among non-Italian communities, emphasizing the need to promote telemedicine to improve access and encourage prevention in dermatological care.