Silencing of CCR4-NOT complex subunits affects heart structure and function

Autor: Lisa Elmén, Claudia B. Volpato, Anaïs Kervadec, Santiago Pineda, Sreehari Kalvakuri, Nakissa N. Alayari, Luisa Foco, Peter P. Pramstaller, Karen Ocorr, Alessandra Rossini, Anthony Cammarato, Alexandre R. Colas, Andrew A. Hicks, Rolf Bodmer

Publikováno v: Disease Models & Mechanisms, Vol 13, Iss 7 (2020)

The identification of genetic variants that predispose individuals to cardiovascular disease and a better understanding of their targets would be highly advantageous. Genome-wide association studies have identified variants that associate with QT-int

Externí odkaz: https://doaj.org/article/111907e034e04c50a593fa2c9ad5841c

Exploring digenic inheritance in arrhythmogenic cardiomyopathy

Autor: Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)

Abstract Background Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac

Externí odkaz: https://doaj.org/article/965015737b704c8b807dfb313f2af9f3

Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method

Autor: Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Claudia B. Volpato, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon

Publikováno v: Stem cell research. 60

The SNCA gene encodes the presynaptic α-synuclein (aSyn) protein, and its mutations are associated with autosomal dominant Parkinson's disease (PD). We describe the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0219ce13148f13f31b4146e528dfd86
https://pubmed.ncbi.nlm.nih.gov/35189566

Optical Behavior of Zirconia-Based Restorations Over Teeth and Implants in the Esthetic Zone: A Clinical Report

Autor: Caroline F, Rafael, Rodrigo M, Ferreira, Bernardo B, Passoni, Edwin, Ruales-Carrera, Cesar A, Benfatti, Anja, Liebermann, Claudia A, Volpato

Publikováno v: Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995). 42(5)

While various zirconia-based alternatives are available today for the restoration of teeth and implants in the esthetic zone, each treatment approach could result in different optical behavior. To clinically demonstrate these differences, this case r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f96a9c4d0cc7c45b04e65b886a160884
https://pubmed.ncbi.nlm.nih.gov/33980022

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

Autor: Eleonora Porcu, Marco Medici, Giorgio Pistis, Claudia B Volpato, Scott G Wilson, Anne R Cappola, Steffan D Bos, Joris Deelen, Martin den Heijer, Rachel M Freathy, Jari Lahti, Chunyu Liu, Lorna M Lopez, Ilja M Nolte, Jeffrey R O'Connell, Toshiko Tanaka, Stella Trompet, Alice Arnold, Stefania Bandinelli, Marian Beekman, Stefan Böhringer, Suzanne J Brown, Brendan M Buckley, Clara Camaschella, Anton J M de Craen, Gail Davies, Marieke C H de Visser, Ian Ford, Tom Forsen, Timothy M Frayling, Laura Fugazzola, Martin Gögele, Andrew T Hattersley, Ad R Hermus, Albert Hofman, Jeanine J Houwing-Duistermaat, Richard A Jensen, Eero Kajantie, Margreet Kloppenburg, Ee M Lim, Corrado Masciullo, Stefano Mariotti, Cosetta Minelli, Braxton D Mitchell, Ramaiah Nagaraja, Romana T Netea-Maier, Aarno Palotie, Luca Persani, Maria G Piras, Bruce M Psaty, Katri Räikkönen, J Brent Richards, Fernando Rivadeneira, Cinzia Sala, Mona M Sabra, Naveed Sattar, Beverley M Shields, Nicole Soranzo, John M Starr, David J Stott, Fred C G J Sweep, Gianluca Usala, Melanie M van der Klauw, Diana van Heemst, Alies van Mullem, Sita H Vermeulen, W Edward Visser, John P Walsh, Rudi G J Westendorp, Elisabeth Widen, Guangju Zhai, Francesco Cucca, Ian J Deary, Johan G Eriksson, Luigi Ferrucci, Caroline S Fox, J Wouter Jukema, Lambertus A Kiemeney, Peter P Pramstaller, David Schlessinger, Alan R Shuldiner, Eline P Slagboom, André G Uitterlinden, Bijay Vaidya, Theo J Visser, Bruce H R Wolffenbuttel, Ingrid Meulenbelt, Jerome I Rotter, Tim D Spector, Andrew A Hicks, Daniela Toniolo, Serena Sanna, Robin P Peeters, Silvia Naitza

Publikováno v: PLoS Genetics, Vol 9, Iss 2, p e1003266 (2013)

Thyroid hormone is essential for normal metabolism and development, and overt abnormalities in thyroid function lead to common endocrine disorders affecting approximately 10% of individuals over their life span. In addition, even mild alterations in

Externí odkaz: https://doaj.org/article/e69c66d7aa444da8a3bac096f4be9764