Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.

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第一作者： David,Baez-Nieto

第一单位： Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

作者： David,Baez-Nieto ^[1] ; Andrew,Allen ^[1] ; Seth,Akers-Campbell ^[2] ; Lingling,Yang ^[1] ; Nikita,Budnik ^[1] ; Amaury,Pupo ^[3] ; Young-Cheul,Shin ^[4] ; Giulio,Genovese ^[1] ; Maofu,Liao ^[4] ; Eduardo,Pérez-Palma ^[5] ; Henrike,Heyne ^[6] ; Dennis,Lal ^[7] ; Diane,Lipscombe ^[2] ; Jen Q,Pan ^[1]

作者单位： Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. ^[1] Carney Institute for Brain Science & Department of Neuroscience, Brown University, Providence, RI 02912, USA. ^[2] Department of Biology, West Virginia University, Morgantown, West Virginia 26506, USA. ^[3] Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA. ^[4] Genomic Medicine Institute, Lerner Research institute, Cleveland Clinic, OH 44195, USA.;Centro de Genética y Genómica, Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Chile. ^[5] Genomic Medicine, Hasso Plattner Institute, Potsdam, 14482, Germany. ^[6] Genomic Medicine Institute, Lerner Research institute, Cleveland Clinic, OH 44195, USA.;Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany.;Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. ^[7]

关键词 CACNA1I CaV3.3 disease risk rare variants schizophrenia

主题词等位基因(Alleles);钙通道, T型(Calcium Channels, T-Type);离子通道病(Channelopathies);人类(Humans);突变, 误义(Mutation, Missense);精神分裂症(Schizophrenia);瑞典(Sweden)

DOI 10.1093/brain/awab443

PMID 34919654

发布时间 2024-12-14

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