MAPT Genetic Variation and Neuronal Maturity Alter Isoform Expression Affecting Axonal Transport in iPSC-Derived Dopamine Neurons

Autor: Joel E. Beevers, Mang Ching Lai, Emma Collins, Heather D.E. Booth, Federico Zambon, Laura Parkkinen, Jane Vowles, Sally A. Cowley, Richard Wade-Martins, Tara M. Caffrey

Publikováno v: Stem Cell Reports, Vol 9, Iss 2, Pp 587-599 (2017)

Summary: The H1 haplotype of the microtubule-associated protein tau (MAPT) locus is genetically associated with neurodegenerative diseases, including Parkinson's disease (PD), and affects gene expression and splicing. However, the functional impact o

Externí odkaz: https://doaj.org/article/65db6379c48347cf94044f99e7e5a7ed

Circulating small non-coding RNA profiling as potential biomarkers of atherosclerotic plaque composition in Type 1 diabetes

Autor: Saula Vigili de Kreutzenberg, Giulio Ceolotto, Angelo Avogaro, Didac Mauricio, Nuria Alonso, Emilio Ortega, Marta Hernandez, Daniela Basso, Carlo Federico Zambon, Esmeralda Castelblanco, Alessandra Giannella

OBJECTIVE Cardiovascular disease (CVD) accounts for most deaths in patients with type 1 diabetes (T1D); however, the determinants of plaque composition are unknown. MicroRNAs (miRNAs) regulate gene expression, participate in the development of athero

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4706c5d63b0b3306896973345d799eb9
https://doi.org/10.2337/figshare.21685226.v1

A Randomized Trial of Pharmacogenetic Warfarin Dosing in Naïve Patients with Non-Valvular Atrial Fibrillation.

Autor: Vittorio Pengo, Carlo-Federico Zambon, Paola Fogar, Andrea Padoan, Giovanni Nante, Michela Pelloso, Stefania Moz, Anna Chiara Frigo, Francesca Groppa, Dania Bozzato, Enrico Tiso, Elisa Gnatta, Gentian Denas, Seena Padayattil Jose, Roberto Padrini, Daniela Basso, Mario Plebani

Publikováno v: PLoS ONE, Vol 10, Iss 12, p e0145318 (2015)

UNLABELLED:Genotype-guided warfarin dosing have been proposed to improve patient’s management. This study is aimed to determine whether a CYP2C9- VKORC1- CYP4F2-based pharmacogenetic algorithm is superior to a standard, clinically adopted, pharmaco

Externí odkaz: https://doaj.org/article/f5803279a0d14abd9842dbd8eed5e4ac

Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals

Autor: Rajagopal Krishnamoorthy, Yusuke Nakamura, Alice Giontella, Elisa Danese, Munir Pirmohamed, Hoi Y. Tong, Angela Tagetti, Marie-Anne Loriot, Pietro Minuz, Anke H. Maitland-van der Zee, Sheng-Lan Tan, Jim K Burmester, Richard B. Kim, Jamila Alessandra Perini, Ming Ta Michael Lee, Nita A. Limdi, Min Huang, Mohamed H. Shahin, Guilherme Suarez-Kurtz, Vanessa Roldán, Carlos Isaza, Hersh Sagreiya, Hye Sun Gwak, Vijay Kumar Kutala, Han-Jing Cen, Russ B. Altman, Antonio J. Carcas, Kunihiko Itoh, Vaiva Lesauskaite, Richard L. Berg, Cristina Mazzaccara, Kyung Eun Lee, Mariana R. Botton, Jieying Eunice Zhang, Anthonius de Boer, Yumao Zhang, Inna Y. Gong, Marianne K. Kringen, Paola Borgiani, Taimour Y. Langaee, Monica Taljaard, Vacis Tatarunas, Panos Deloukas, Chrisly Dillon, Alberto M. Borobia, Michael D. Caldwell, Katarzyna Drozda, Larisa H. Cavallari, Julie A. Johnson, Stephane Bourgeois, Lucia Sacchetti, Saurabh Singh Rathore, Stuart A. Scott, Martina Montagnana, Li-Zi Zhao, Charles A. Rivers, Mahmut Ozer, Taisei Mushiroda, Cristina Lucía Dávila-Fajardo, Andras Paldi, Marisa Cañadas-Garre, Rocío González-Conejero, Talitha I. Verhoef, Sherief Khalifa, Ivet Suriapranata, Carlo Federico Zambon, Balraj Mittal, Sara Raimondi, Ece Genc, Virginie Siguret, Andrea H. Ramirez, Cinzia Ciccacci, Keita Hirai, Enrique Jiménez-Varo, Hong-Hao Zhou, Anil Pathare, Steven A. Lubitz, Josh C. Denny, Aditi Shendre, Leonardo Beltrán, Kari Bente Foss Haug, Cristiano Fava, Vittorio Pengo

Publikováno v: Clin Pharmacol Ther
Clinical Pharmacology and Therapeutics, 105(6), 1477. Nature Publishing Group
Danese, E, Sara, R, Montagnana, M, Tagetti, A, Langaee, T, Borgiani, P, Ciccacci, C, Carcas, A J, Borobia, A M, Tong, H Y, Davila Fajardo, C, Rodrigues Botton, M, Bourgeois, S, Deloukas, P, Caldwell, M D, Burmester, J K, Berg, R L, Cavallari, L H, Drozda, K, Huang, M, Zhao, L-Z, Cen, H-J, Gonzalez-Conejero, R, Roldan, V, Nakamura, Y, Mushiroda, T, Gong, I Y, Kim, R B, Hirai, K, Itoh, K, Isaza, C, Beltran, L, Jimenez-Varo, E, Cañadas-Garre, M, Giontella, A, Kristiansen Kringen, M, Bente Foss Haug, K, Gwak, H S, Lee, K E, Minuz, P, Lee, M T M, Lubitz, S A, Scott, S, Mazzaccara, C, Sacchetti, L, Genç, E, Özer, M, Pathare, A, Krishnamoorthy, R, Paldi, A, Siguret, V, Loriot, M-A, Kumar Kutala, V, Suarez-Kurtz, G, Perini, J, Denny, J C, Ramirez, A H, Mittal, B, Singh Rathore, S, Sagreiya, H, Altman, R, Shahin, M H A, Khalifa, S I, Lindi, N A, Rivers, C, Shendre, A, Dillon, C, Suriapranata, I M, Zhou, H-H, Tan, S-L, Tatarunas, V, Lesauskaite, V, Zhang, Y, Maitland-van der Zee, A H, Verhoef, T I, de Boer, A, Taljaard, M, Zambon, C F, Pengo, V, zhang, J E, Pirmohamed, M, Johnson, J A & Fava, C 2018, ' The effect of CYP4F2, VKORC1 and CYP2C9 in influencing coumarin dose. A single patient data meta-analysis in more than 15,000 individuals ', Clinical Pharmacology and Therapeutics . https://doi.org/10.1002/cpt.1323
Clinical Pharmacology and Therapeutics
Clinical Pharmacology and Therapeutics, 2019, 105 (6), pp.1477-1491. ⟨10.1002/cpt.1323⟩
Clinical pharmacology and therapeutics, 105(6), 1477-1491. Wiley-Blackwell
Clinical pharmacology and therapeutics
Paediatrics Publications

The CYP4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at individual patients' level to capture the possible effect of ethnicity, gene-gene interaction or other drugs on the association

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f48f76671021f7043e3ac2ca8c9e251
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85061927761&origin=inward

SARS-CoV-2 RNA identification in nasopharyngeal swabs: issues in pre-analytics

Autor: Ada Aita, Paola Fioretto, Stefania Moz, Dania Bozzato, Mario Plebani, Elisa Franchin, Carlo-Federico Zambon, Andrea Crisanti, Chiara Dal Pra, Barbara Martin, Filippo Navaglia, Daniela Basso

Publikováno v: Clinical chemistry and laboratory medicine. 58(9)

Objectives The direct identification of SARS-CoV-2 RNA in nasopharyngeal swabs is recommended for diagnosing the novel COVID-19 disease. Pre-analytical determinants, such as sampling procedures, time and temperature storage conditions, might impact o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d72486266c2d0a305a7409ab57c8c9b
https://pubmed.ncbi.nlm.nih.gov/32573469