A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

导出 OA

翻译打印收藏纠错

作者： Catarina M,Seabra ^[1] ; Nicholas,Szoko ^[2] ; Serkan,Erdin ^[3] ; Ashok,Ragavendran ^[4] ; Alexei,Stortchevoi ^[2] ; Patrícia,Maciel ^[3] ; Kathleen,Lundberg ^[2] ; Daniela,Schlatzer ^[3] ; Janice,Smith ^[2] ; Michael E,Talkowski ^[5] ; James F,Gusella ^[6] ; Marvin R,Natowicz ^[7]

作者单位： GABBA - Institute of Biomedical Sciences Abel Salazar of the University of Porto, Porto, Portugal. ^[1] Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts. ^[2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Medical School, Boston, Massachusetts. ^[3] Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio. ^[4] Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal. ^[5] ICVS/3Bs - PT Government Associate Laboratory, Braga/Guimarães, Portugal. ^[6] Center for Proteomics, Case Western Reserve University School of Medicine, Cleveland, Ohio. ^[7] Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas. ^[8] Department of Neurology, Harvard Medical School, Harvard University, Boston, Massachusetts. ^[9] Department of Genetics, Harvard Medical School, Harvard University, Boston, Massachusetts. ^[10] Pathology & Laboratory Medicine, Genomic Medicine, Neurology and Pediatrics Institutes, Cleveland Clinic, Cleveland, Ohio. ^[11] Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio. ^[12]

关键词 ARID1B SWI/SNF SWI/SNF-A chromatin development intellectual disability proteome proteomic regulation