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Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants
Institution:1. Istituto di Genetica e Biofisica “Adriano Buzzati-Traverso” - CNR, Napoli, Italy;2. Dipartimento di Diagnostica di Laboratorio, I Laboratorio Analisi, Azienda Ospedaliero-Universitaria, Ospedali Riuniti, Foggia, Italy;3. U.O.S. Microcitemia e patologia del globulo rosso, O.O.C. Ematologia A.O. Cosenza, Italy;4. P.O. Pellegrini A.S.L. NA1, Napoli, Italy;5. Medicina Trasfusionale, Azienda Ospedaliera Universitaria OO.RR. San Giovanni di Dio Ruggi D’Aragona, Salerno, Italy;1. Department of Chemistry and Biochemistry, USA;2. Biochemistry Ph.D. Program, USA;3. Biomolecular Sciences Institute, School of Integrated Sciences and Humanities, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA;4. ISOF, Consiglio Nazionale delle Ricerche, Via P. Gobetti 101, 40129 Bologna, Italy;5. Institute of Nanoscience and Nanotechnology, N.C.S.R. “Demokritos”, 15341, Agia Paraskevi, Athens, Greece;1. BIOSCOPE Group, UCIBIO-REQUIMTE, Chemistry Department, Faculty of Science and Technology, University NOVA of Lisbon, Caparica 2829-516, Portugal;2. ProteoMass Scientific Society, Madan Parque, Rua dos Inventores, 2825-182, Caparica, Portugal;1. BIOSCOPE Group, UCIBIO-REQUIMTE, Chemistry Department, Faculty of Science and Technology, University NOVA of Lisbon, Caparica 2829-516, Portugal;2. ProteoMass Scientific Society, Madan Parque, Rua dos Inventores, 2825-182, Caparica, Portugal;1. BIOSCOPE Group, UCIBIO-REQUIMTE, Chemistry Department, Faculty of Science and Technology, University NOVA of Lisbon, Caparica 2829-516, Portugal;2. ProteoMass Scientific Society, Madan Parque, Rua dos Inventores, 2825-182, Caparica, Portugal;1. BIOSCOPE Group, UCIBIO-REQUIMTE, Chemistry Department, Faculty of Science and Technology, University NOVA of Lisbon, Caparica 2829-516, Portugal;2. ProteoMass Scientific Society, Madan Parque, Rua dos Inventores, 2825-182, Caparica, Portugal;1. Division of Hematology/Oncology, Boston Children''s Hospital;2. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA;3. Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA;4. Division of Genetics and Genomics, Harvard Medical School, Boston, MA;5. The Manton Center for Orphan Disease Research, Boston Children''s Hospital, Harvard Medical School, Boston, MA;6. Division of Genetics and Genomics, Division of Newborn Medicine, and The Manton Center for Orphan Disease Research, Boston Children''s Hospital, Harvard Medical School, Boston, MA;3. Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, MBC 03, P.O. Box 3354, Riyadh 11211, Saudi Arabia and;4. Joint Center for Genomics Research, King Abdulaziz City for Science and Technology, Riyadh 11211, Saudi Arabia;1. School of Dentistry, Federal University of Juiz de Fora, Governador Valadares, Minas Gerais, Brazil;2. Department of Oral Diagnostic, Piracicaba Dental School – State University of Campinas, Piracicaba, São Paulo, Brazil;3. Health Science Program, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil;4. Center for Rehabilitation of Craniofacial Anomalies, Dental School, University Jose Rosário Vellano, Alfenas, Minas Gerais, Brazil
Abstract:
Keywords:Premature termination codon  Splicing mutant  Nonsense-mediated decay  Nonsense-associated altered splicing  Semi-quantitative mRNA analysis  Cycloheximide assay
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