Zobrazeno 1 - 10
of 128
pro vyhledávání: '"Andrea Bernini"'
Autor:
Andrea Bernini
Publikováno v:
Pylon, Vol 5 (2024)
Externí odkaz:
https://doaj.org/article/f4aacd209bca497386d7897047160256
Autor:
Luisa Frusciante, Michela Geminiani, Alfonso Trezza, Tommaso Olmastroni, Pierfrancesco Mastroeni, Laura Salvini, Stefania Lamponi, Andrea Bernini, Daniela Grasso, Elena Dreassi, Ottavia Spiga, Annalisa Santucci
Publikováno v:
Marine Drugs, Vol 22, Iss 5, p 226 (2024)
Utilizing plant-based resources, particularly their by-products, aligns with sustainability principles and circular bioeconomy, contributing to environmental preservation. The therapeutic potential of plant extracts is garnering increasing interest,
Externí odkaz:
https://doaj.org/article/2b341c8733dd4dcb82e29a840502a53a
Autor:
Maria Chiara Maccarone, Daniele Coraci, Andrea Bernini, Nicola Sarandria, Marta Rossella Valente, Anna Chiara Frigo, Yannis Dionyssiotis, Stefano Masiero
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionThe progressive loss of skeletal muscle mass, strength, and function that frequently occurs as people get older is referred to as sarcopenia. Elderly musculoskeletal aging, sarcopenia, and obesity are all intimately connected. Our study
Externí odkaz:
https://doaj.org/article/910b5ed5806749bbb6602bd4b360c2a2
Autor:
Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D’Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16881 (2023)
Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in
Externí odkaz:
https://doaj.org/article/8eac08075aa14a4b977811dbf2dd789f
Autor:
Andrea Bernini, Elena Petricci, Andrea Atrei, Maria Camilla Baratto, Fabrizio Manetti, Annalisa Santucci
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs due to a deficiency in functional levels of the enzyme homogentisate 1,2-dioxygenase (HGD), required for the breakdown of
Externí odkaz:
https://doaj.org/article/67404596870e443d8436200fe91b2752
Autor:
Rossella Cannarella, Carmelo Gusmano, Rosita A. Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E. Calogero
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7428 (2023)
Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare genetic disorder with variable penetrance and a complex inheritance pattern. Consequently, it does not always follow Mendelian laws. More recently, digenic and oligogenic
Externí odkaz:
https://doaj.org/article/07855f83a94a45ed9af0e277e5700bfc
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5819 (2023)
Whenever a protein fails to fold into its native structure, a profound detrimental effect is likely to occur, and a disease is often developed. Protein conformational disorders arise when proteins adopt abnormal conformations due to a pathological ge
Externí odkaz:
https://doaj.org/article/5c3efe332b5d4242aa0215942597a0d5
Autor:
Ottavia Spiga, Vittoria Cicaloni, Cosimo Fiorini, Alfonso Trezza, Anna Visibelli, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Daniela Braconi, Filippo Prischi, Annalisa Santucci
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. One of the main obstacles in studying AKU, and other ultra-rare diseases, is the lack of a stand
Externí odkaz:
https://doaj.org/article/7e00aa955b77490f827561462633086f
Autor:
Elisabetta Gambale, Anna Boddi, Adriano Pasqui, Domenico Andrea Campanacci, Guido Scoccianti, Ilaria Palchetti, Andrea Bernini, Lorenzo Antonuzzo, Serena Pillozzi
Publikováno v:
Cancer Treatment and Research Communications, Vol 31, Iss , Pp 100528- (2022)
Clinical responses to anticancer therapies in advanced soft tissue sarcoma (STS) are unfortunately limited to a small subset of patients. Much of the inter-individual variability in treatment efficacy and risk of toxicities is as result of polymorphi
Externí odkaz:
https://doaj.org/article/c438557b8aa444148c519093380f4d5b
Autor:
Daniela Grasso, Michela Geminiani, Silvia Galderisi, Gabriella Iacomelli, Luana Peruzzi, Barbara Marzocchi, Annalisa Santucci, Andrea Bernini
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15805 (2022)
Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation. AKU patients carry variants within the gene coding for homogentisate-1,2-d
Externí odkaz:
https://doaj.org/article/c9078e40a76247f2bf076da79c9ad7ef