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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

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第一作者： Vincenzo A,Gennarino

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.

作者： Vincenzo A,Gennarino ^[1] ; Callison E,Alcott ^[2] ; Chun-An,Chen ^[1] ; Arindam,Chaudhury ^[3] ; Madelyn A,Gillentine ^[1] ; Jill A,Rosenfeld ^[1] ; Sumit,Parikh ^[4] ; James W,Wheless ^[5] ; Elizabeth R,Roeder ^[1] ; Dafne D G,Horovitz ^[6] ; Erin K,Roney ^[1] ; Janice L,Smith ^[1] ; Sau W,Cheung ^[1] ; Wei,Li ^[7] ; Joel R,Neilson ^[3] ; Christian P,Schaaf ^[1] ; Huda Y,Zoghbi ^[1]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States. ^[1] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States. ^[2] Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, United States. ^[3] Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, United States. ^[4] Department of Pediatric Neurology, Neuroscience Institute and Tuberous Sclerosis Clinic, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Memphis, United States. ^[5] Depto de Genetica Medica, Instituto Nacional de Saude da Mulher, da Criança e do Adolescente Fernandes Figueira, Rio de Janeiro, Brazil. ^[6] Division of Biostatistics, Dan L Duncan Cancer Center, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, United States. ^[7]

关键词 MeCP2 NUDT21 alternative polyadenylation human intellectual disability neuropsychiatric disease neuroscience