In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.

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作者： Camille,Laberthonnière ^[1] ; Mégane,Delourme ^[1] ; Raphaël,Chevalier ^[1] ; Camille,Dion ^[1] ; Benjamin,Ganne ^[1] ; David,Hirst ^[1] ; Leslie,Caron ^[1] ; Pierre,Perrin ^[1] ; José,Adélaïde ^[2] ; Max,Chaffanet ^[2] ; Shifeng,Xue ^[3] ; Karine,Nguyen ^[4] ; Bruno,Reversade ^[1] ; Jérôme,Déjardin ^[5] ; Anaïs,Baudot ^[4] ; Jérôme D,Robin ^[6] ; Frédérique,Magdinier ^[7]

作者单位： Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille 13005, France. ^[1] Aix Marseille Univ, INSERM, CNRS, Institut Paoli Calmette, Centre de Recherche en Cancérologie de Marseille, Laboratory of predictive Oncology, Marseille 13009, France. ^[2] Department of Biological Sciences, National University of Singapore, Singapore 117558, Singapore. ^[3] Genome Institute of Singapore, A*STAR, Singapore, Singapore. ^[4] Département de Génétique Médicale, AP-HM, Hôpital d'enfants de la Timone, Marseille 13005, France. ^[5] Department of Medical Genetics, Koç University, School of Medicine, Istanbul, Turkey. ^[6] Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. ^[7] Laboratory of Human Genetics & Therapeutics, Smart-Health Initiative, BESE, KAUST, Thuwal, Saudi Arabia. ^[8] Institut de Génétique Humaine, UMR 9002, CNRS-Université de Montpellier, Montpellier 34000, France. ^[9]