换一批
换一批Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
作者：
Joery,den Hoed [1]
;
Elke,de Boer [2]
;
Norine,Voisin [3]
;
Alexander J M,Dingemans [2]
;
Nicolas,Guex [4]
;
Laurens,Wiel [5]
;
Christoffer,Nellaker [6]
;
Shivarajan M,Amudhavalli [7]
;
Siddharth,Banka [8]
;
Frederique S,Bena [9]
;
Bruria,Ben-Zeev [10]
;
Vincent R,Bonagura [11]
;
Ange-Line,Bruel [12]
;
Theresa,Brunet [13]
;
Han G,Brunner [14]
;
Hui B,Chew [15]
;
Jacqueline,Chrast [3]
;
Loreta,Cimbalistienė [16]
;
Hilary,Coon [17]
;
DDD Study [18]
;
Emmanuèlle C,Délot [19]
;
Florence,Démurger [20]
;
Anne-Sophie,Denommé-Pichon [12]
;
Christel,Depienne [21]
;
Dian,Donnai [8]
;
David A,Dyment [22]
;
Orly,Elpeleg [23]
;
Laurence,Faivre [24]
;
Christian,Gilissen [25]
;
Leslie,Granger [26]
;
Benjamin,Haber [27]
;
Yasuo,Hachiya [28]
;
Yasmin Hamzavi,Abedi [29]
;
Jennifer,Hanebeck [27]
;
Jayne Y,Hehir-Kwa [30]
;
Brooke,Horist [31]
;
Toshiyuki,Itai [32]
;
Adam,Jackson [33]
;
Rosalyn,Jewell [34]
;
Kelly L,Jones [35]
;
Shelagh,Joss [36]
;
Hirofumi,Kashii [28]
;
Mitsuhiro,Kato [37]
;
Anja A,Kattentidt-Mouravieva [38]
;
Fernando,Kok [39]
;
Urania,Kotzaeridou [27]
;
Vidya,Krishnamurthy [31]
;
Vaidutis,Kučinskas [16]
;
Alma,Kuechler [21]
;
Alinoë,Lavillaureix [40]
;
Pengfei,Liu [41]
;
Linda,Manwaring [42]
;
Naomichi,Matsumoto [32]
;
Benoît,Mazel [43]
;
Kirsty,McWalter [44]
;
Vardiella,Meiner [23]
;
Mohamad A,Mikati [45]
;
Satoko,Miyatake [32]
;
Takeshi,Mizuguchi [32]
;
Lip H,Moey [46]
;
Shehla,Mohammed [47]
;
Hagar,Mor-Shaked [23]
;
Hayley,Mountford [48]
;
Ruth,Newbury-Ecob [49]
;
Sylvie,Odent [40]
;
Laura,Orec [27]
;
Matthew,Osmond [22]
;
Timothy B,Palculict [44]
;
Michael,Parker [50]
;
Andrea K,Petersen [26]
;
Rolph,Pfundt [51]
;
Eglė,Preikšaitienė [16]
;
Kelly,Radtke [52]
;
Emmanuelle,Ranza [53]
;
Jill A,Rosenfeld [54]
;
Teresa,Santiago-Sim [44]
;
Caitlin,Schwager [7]
;
Margje,Sinnema [55]
;
Lot,Snijders Blok [56]
;
Rebecca C,Spillmann [57]
;
Alexander P A,Stegmann [58]
;
Isabelle,Thiffault [59]
;
Linh,Tran [45]
;
Adi,Vaknin-Dembinsky [60]
;
Juliana H,Vedovato-Dos-Santos [61]
;
Samantha A,Schrier Vergano [62]
;
Eric,Vilain [19]
;
Antonio,Vitobello [12]
;
Matias,Wagner [63]
;
Androu,Waheeb [64]
;
Marcia,Willing [42]
;
Britton,Zuccarelli [65]
;
Usha,Kini [66]
;
Dianne F,Newbury [48]
;
Tjitske,Kleefstra [2]
;
Alexandre,Reymond [3]
;
Simon E,Fisher [67]
;
Lisenka E L M,Vissers [2]
作者单位：
Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands.
[1]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
[2]
Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
[3]
Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland.
[4]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands.
[5]
Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.
[6]
University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
[7]
Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
[8]
Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.
[9]
Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
[10]
Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.
[11]
UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.
[12]
Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
[13]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands.
[14]
Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.
[15]
Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
[16]
Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
[17]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
[18]
Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.
[19]
Department of clinical genetics, Vannes hospital, 56017 Vannes, France.
[20]
Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
[21]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.
[22]
Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.
[23]
UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
[24]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
[25]
Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.
[26]
Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
[27]
Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.
[28]
Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.
[29]
Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands.
[30]
Pediatrics & Genetics, Alpharetta, GA 30005, USA.
[31]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
[32]
Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
[33]
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
[34]
Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA.
[35]
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
[36]
Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan.
[37]
Zuidwester, 3240AA Middelharnis, the Netherlands.
[38]
Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil.
[39]
CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.
[40]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
[41]
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.
[42]
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
[43]
GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
[44]
Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
[45]
Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia.
[46]
Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
[47]
Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.
[48]
Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.
[49]
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK.
[50]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands.
[51]
Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA.
[52]
Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.
[53]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[54]
Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands.
[55]
Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
[56]
Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA.
[57]
Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands.
[58]
University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
[59]
Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel.
[60]
Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil.
[61]
Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.
[62]
Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
[63]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
[64]
The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA.
[65]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
[66]
Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl.
[67]
主题词
染色质(Chromatin);女(雌)性(Female);遗传关联研究(Genetic Association Studies);单倍剂量不足(Haploinsufficiency);人类(Humans);男(雄)性(Male);核基质附着区结合蛋白质类(Matrix Attachment Region Binding Proteins);模型, 分子(Models, Molecular);突变(Mutation);突变, 误义(Mutation, Missense);蛋白质结合(Protein Binding);转录, 遗传(Transcription, Genetic)
DOI
10.1016/j.ajhg.2021.01.007
PMID
33513338
发布时间
2021-08-06
- 浏览0
American journal of human genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
