换一批
换一批Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
作者：
Scott,Bell [1]
;
Justine,Rousseau [2]
;
Huashan,Peng [1]
;
Zahia,Aouabed [1]
;
Pierre,Priam [3]
;
Jean-Francois,Theroux [1]
;
Malvin,Jefri [1]
;
Arnaud,Tanti [1]
;
Hanrong,Wu [1]
;
Ilaria,Kolobova [1]
;
Heika,Silviera [1]
;
Karla,Manzano-Vargas [1]
;
Sophie,Ehresmann [2]
;
Fadi F,Hamdan [2]
;
Nuwan,Hettige [1]
;
Xin,Zhang [1]
;
Lilit,Antonyan [1]
;
Christina,Nassif [2]
;
Lina,Ghaloul-Gonzalez [4]
;
Jessica,Sebastian [4]
;
Jerry,Vockley [4]
;
Amber G,Begtrup [5]
;
Ingrid M,Wentzensen [5]
;
Amy,Crunk [5]
;
Robert D,Nicholls [4]
;
Kristin C,Herman [6]
;
Joshua L,Deignan [7]
;
Walla,Al-Hertani [8]
;
Stephanie,Efthymiou [9]
;
Vincenzo,Salpietro [9]
;
Noriko,Miyake [10]
;
Yoshio,Makita [11]
;
Naomichi,Matsumoto [10]
;
Rune,Østern [12]
;
Gunnar,Houge [13]
;
Maria,Hafström [12]
;
Emily,Fassi [14]
;
Henry,Houlden [9]
;
Jolien S,Klein Wassink-Ruiter [15]
;
Dominic,Nelson [16]
;
Amy,Goldstein [17]
;
Tabib,Dabir [18]
;
Julien,van Gils [19]
;
Thomas,Bourgeron [19]
;
Richard,Delorme [20]
;
Gregory M,Cooper [21]
;
Jose E,Martinez [22]
;
Candice R,Finnila [21]
;
Lionel,Carmant [22]
;
Anne,Lortie [23]
;
Renske,Oegema [24]
;
Koen,van Gassen [24]
;
Sarju G,Mehta [25]
;
Dagmar,Huhle [25]
;
Rami,Abou Jamra [26]
;
Sonja,Martin [26]
;
Han G,Brunner [27]
;
Dick,Lindhout [28]
;
Margaret,Au [29]
;
John M,Graham [29]
;
Christine,Coubes [30]
;
Gustavo,Turecki [1]
;
Simon,Gravel [15]
;
Naguib,Mechawar [1]
;
Elsa,Rossignol [2]
;
Jacques L,Michaud [2]
;
Julie,Lessard [3]
;
Carl,Ernst [31]
;
Philippe M,Campeau [32]
作者单位：
Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada.
[1]
CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.
[2]
Institute for Research in Immunology and Cancer (IRIC), University of Montreal, Montreal, QC H3T 1J4, Canada.
[3]
Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
[4]
GeneDx, Gaithersburg, MD 20877, USA.
[5]
University of California at Davis Medical Center, Section of Medical Genomics, Sacramento, CA 95817, USA.
[6]
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
[7]
Departments of Medical Genetics and Paediatrics, Cumming School of Medicine, Alberta Children's Hospital and University of Calgary, Calgary, AB T3B 6A8, Canada.
[8]
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, WC1N 3BG London, UK.
[9]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
[10]
Education Center, Asahikawa Medical University, Asahikawa 078-8510, Japan.
[11]
Department of Pediatrics, St. Olav's Hospital, Trondheim University Hospital, Postbox 3250, Sluppen 7006 Trondheim, Norway.
[12]
Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.
[13]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
[14]
Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
[15]
McGill University, Department of Human Genetics, Montreal, QC H3G 0B1, Canada.
[16]
Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
[17]
Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.
[18]
Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, University Paris Diderot, Paris 75015, France.
[19]
Assistance Publique Hôpitaux de Paris (APHP), Robert Debré Hospital, Child and Adolescent Psychiatry Department, Paris, France.
[20]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
[21]
Children's Rehabilitation Service, Mobile, AL 36604, USA.
[22]
Department of Neurology, University of Montreal, Montreal, QC, Canada.
[23]
Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
[24]
Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.
[25]
Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
[26]
Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6500 GA, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
[27]
Department of Genetics, University Medical Center Utrecht, Utrecht & Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.
[28]
Medical Genetics, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
[29]
Service de génétique clinique, Département de génétique médicale, Maladies rares et médecine personnalisée, Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Montpellier, 34295 Montpellier Cedex 5, France.
[30]
Psychiatric Genetics Group, Douglas Hospital Research Institute, McGill University, Montreal, QC H4H 1R3, Canada. Electronic address: carl.ernst@mcgill.ca.
[31]
CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
[32]
主题词
肌动蛋白类(Actins);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色质(Chromatin);染色体蛋白质类, 非组蛋白(Chromosomal Proteins, Non-Histone);DNA结合蛋白质类(DNA-Binding Proteins);树突(Dendrites);癫痫(Epilepsy);女(雌)性(Female);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);婴儿(Infant);男(雄)性(Male);突变(Mutation);神经元(Neurons);青年人(Young Adult)
DOI
10.1016/j.ajhg.2019.03.022
PMID
31031012
发布时间
2023-10-11
- 浏览18
American journal of human genetics
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