换一批
换一批De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
第一作者：
Lisenka E L M,Vissers
第一单位：
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.
作者：
Lisenka E L M,Vissers [1]
;
Sreehari,Kalvakuri [2]
;
Elke,de Boer [3]
;
Sinje,Geuer [3]
;
Machteld,Oud [3]
;
Inge,van Outersterp [3]
;
Michael,Kwint [3]
;
Melde,Witmond [3]
;
Simone,Kersten [4]
;
Daniel L,Polla [5]
;
Dilys,Weijers [3]
;
Amber,Begtrup [6]
;
Kirsty,McWalter [6]
;
Anna,Ruiz [7]
;
Elisabeth,Gabau [7]
;
Jenny E V,Morton [8]
;
Christopher,Griffith [9]
;
Karin,Weiss [10]
;
Candace,Gamble [11]
;
James,Bartley [12]
;
Hilary J,Vernon [13]
;
Kendra,Brunet [14]
;
Claudia,Ruivenkamp [15]
;
Sarina G,Kant [15]
;
Paul,Kruszka [16]
;
Austin,Larson [17]
;
Alexandra,Afenjar [18]
;
Thierry,Billette de Villemeur [19]
;
Kimberly,Nugent [19]
;
DDD Study [20]
;
F Lucy,Raymond [21]
;
Hanka,Venselaar [22]
;
Florence,Demurger [23]
;
Claudia,Soler-Alfonso [24]
;
Dong,Li [25]
;
Elizabeth,Bhoj [25]
;
Ian,Hayes [26]
;
Nina Powell,Hamilton [27]
;
Ayesha,Ahmad [27]
;
Rachel,Fisher [27]
;
Myrthe,van den Born [28]
;
Marjolaine,Willems [29]
;
Arthur,Sorlin [30]
;
Julian,Delanne [30]
;
Sebastien,Moutton [31]
;
Philippe,Christophe [32]
;
Frederic Tran,Mau-Them [32]
;
Antonio,Vitobello [32]
;
Himanshu,Goel [33]
;
Lauren,Massingham [34]
;
Chanika,Phornphutkul [34]
;
Jennifer,Schwab [34]
;
Boris,Keren [35]
;
Perrine,Charles [35]
;
Maaike,Vreeburg [36]
;
Lenika,De Simone [37]
;
George,Hoganson [37]
;
Maria,Iascone [38]
;
Donatella,Milani [39]
;
Lucie,Evenepoel [40]
;
Nicole,Revencu [40]
;
D Isum,Ward [41]
;
Kaitlyn,Burns [41]
;
Ian,Krantz [42]
;
Sarah E,Raible [42]
;
Jill R,Murrell [42]
;
Kathleen,Wood [42]
;
Megan T,Cho [6]
;
Hans,van Bokhoven [3]
;
Maximilian,Muenke [10]
;
Tjitske,Kleefstra [3]
;
Rolf,Bodmer [43]
;
Arjan P M,de Brouwer [3]
作者单位：
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.
[1]
Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA.
[2]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
[3]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen the Netherlands.
[4]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 70040-031 Brasília, Brazil.
[5]
GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
[6]
Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
[7]
West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston B15 2TG, UK.
[8]
Department of Pediatrics, University of South Florida, Tampa, FL 33606, USA.
[9]
The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
[10]
Cook Children's, 801 7th Ave, Fort Worth, TX 76104, USA.
[11]
Pediatric Specialty Clinics, Loma Linda University, 11234 Anderson St., Loma Linda, CA 92354, USA.
[12]
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[13]
Porcupine Health Unit, 169 Pine St S, Timmins, ON P4N 2K3, Canada.
[14]
Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.
[15]
National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20814, USA.
[16]
Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
[17]
CRMR malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Département de génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France.
[18]
Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.
[19]
Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
[20]
Department of Medical Genetics, University of Cambridge, CB2 0XY Cambridge, UK.
[21]
Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences (RIMLS), PO Box 9101, 6500 HB Nijmegen, the Netherlands.
[22]
Centre Hospitalier Bretagne Atlantique, 20 Boulevard Général Maurice Guillaudot, BP 70555, 56017 Vannes Cedex, France.
[23]
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
[24]
Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.
[25]
Genetic Health Service New Zealand, 2 Park Road, Grafton, Auckland 1023, New Zealand.
[26]
Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
[27]
Department for Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA Rotterdam, the Netherlands.
[28]
Centre Hospitalier Universitaire de Montpellier, 191 av. du Doyen Giraud, 34295 Montpellier Cedex 5, France.
[29]
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
[30]
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, 33401 Talence, France.
[31]
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
[32]
Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.
[33]
Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
[34]
Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
[35]
Department of Clinical Genetics, Maastricht UMC+, Postbus 5800, 6202 AZ Maastricht, the Netherlands.
[36]
UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.
[37]
Laboratorio di genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
[38]
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatric Highly Intensive Care Unit, Milan, 20122, Italy.
[39]
Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
[40]
Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.
[41]
The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
[42]
Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA. Electronic address: rolf@sbpdiscovery.org.
[43]
主题词
等位基因(Alleles);发育障碍(Developmental Disabilities);女(雌)性(Female);基因表达(Gene Expression);遗传变异(Genetic Variation);单倍剂量不足(Haploinsufficiency);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);神经系统畸形(Nervous System Malformations);核受体亚家族4, A组, 成员2(Nuclear Receptor Subfamily 4, Group A, Member 2);表型(Phenotype);蛋白质稳定性(Protein Stability);RNA(RNA);受体, CCR4(Receptors, CCR4);转录因子(Transcription Factors)
DOI
10.1016/j.ajhg.2020.05.017
PMID
32553196
发布时间
2021-01-02
- 浏览3
American journal of human genetics
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