MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

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第一作者： Alessandro,Mussa

第一单位： Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy.;Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy.

作者： Alessandro,Mussa ^[1] ; Diana,Carli ^[2] ; Elisa,Giorgio ^[3] ; Anna Maria,Villar ^[4] ; Simona,Cardaropoli ^[5] ; Caterina,Carbonara ^[6] ; Maria Francesca,Campagnoli ^[6] ; Paolo,Galletto ^[6] ; Martina,Palumbo ^[7] ; Simone,Olivieri ^[5] ; Claudio,Isella ^[8] ; Gregor,Andelfinger ^[9] ; Marco,Tartaglia ^[10] ; Giovanni,Botta ^[11] ; Alfredo,Brusco ^[12] ; Enzo,Medico ^[8] ; Giovanni Battista,Ferrero ^[13]

作者单位： Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy.;Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[1] Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy.;Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[2] Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.;IRCCS Mondino Foundation, 27100 Pavia, Italy. ^[3] Pediatric Cardiology Unit, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[4] Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy. ^[5] Neonatal Intensive Care Unit, Sant'Anna Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[6] Laboratory of Oncogenomics, Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy. ^[7] Laboratory of Oncogenomics, Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.;Department of Oncology, University of Torino, 10126 Torino, Italy. ^[8] Cardiovascular Genetics, Department of Pediatrics, CHU Sainte Justine, Université de Montréal, Montreal, QC H3T 1C5, Canada. ^[9] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. ^[10] Department of Pathology, Sant'Anna Hospital, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[11] Department of Medical Sciences, University of Torino, 10126 Torino, Italy.;Unit of Medical Genetics, Città Della Salute e Della Scienza di Torino, 10126 Torino, Italy. ^[12] Department of Clinical and Biological Sciences, University of Torino, 10043 Orbassano, Italy. ^[13]

关键词 MEK-inhibitor Noonan syndrome RASopathies hypertrophic cardiomyopathy therapeutics transcriptomics