换一批
换一批CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
作者：
Lisa,Pavinato [1]
;
Andrea,Delle Vedove [2]
;
Diana,Carli [2]
;
Marta,Ferrero [3]
;
Silvia,Carestiato [4]
;
Jennifer L,Howe [5]
;
Emanuele,Agolini [1]
;
Domenico A,Coviello [6]
;
Ingrid,van de Laar [1]
;
Ping Yee Billie,Au [7]
;
Eleonora,Di Gregorio [8]
;
Alessandra,Fabbiani [9]
;
Susanna,Croci [10]
;
Maria Antonietta,Mencarelli [11]
;
Lucia P,Bruno [12]
;
Alessandra,Renieri [13]
;
Danai,Veltra [14]
;
Christalena,Sofocleous [15]
;
Laurence,Faivre [14]
;
Benoit,Mazel [15]
;
Hana,Safraou [13]
;
Anne-Sophie,Denommé-Pichon [14]
;
Marjon A,van Slegtenhorst [15]
;
Noor,Giesbertz [13]
;
Richard H,van Jaarsveld [14]
;
Anna,Childers [15]
;
R Curtis,Rogers [16]
;
Antonio,Novelli [16]
;
Silvia,De Rubeis [17]
;
Joseph D,Buxbaum [18]
;
Stephen W,Scherer [17]
;
Giovanni Battista,Ferrero [18]
;
Brunhilde,Wirth [19]
;
Alfredo,Brusco [18]
作者单位：
Department of Medical Sciences, University of Turin, 10126 Turin, Italy.
[1]
Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
[2]
Institute for Genetics, University of Cologne, 50674 Cologne, Germany.
[3]
Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.
[4]
Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy.
[5]
Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy.
[6]
The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
[7]
Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
[8]
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
[9]
Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.
[10]
Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
[11]
Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
[12]
Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
[13]
Medical Genetics, University of Siena, 53100 Siena, Italy.
[14]
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
[15]
Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
[16]
Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.
[17]
UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.
[18]
Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
[19]
Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands.
[20]
Greenwood Genetic Center, Greenville, SC 29646, USA.
[21]
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[22]
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[23]
The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[24]
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[25]
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[26]
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
[27]
McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada.
[28]
Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy.
[29]
主题词
动物(Animals);小鼠(Mice);人类(Humans);注意力缺陷障碍伴多动(Attention Deficit Disorder with Hyperactivity);单倍剂量不足(Haploinsufficiency);诱导多能干细胞(Induced Pluripotent Stem Cells);蛋白质类(Proteins);语言发展障碍(Language Development Disorders);细胞周期蛋白质类(Cell Cycle Proteins)
DOI
10.1093/brain/awac278
PMID
35979925
发布时间
2023-07-28
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Brain
Brain
534-548页
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