BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Author:

Lessel Davor1,Gehbauer Christina2,Bramswig Nuria C3,Schluth-Bolard Caroline45,Venkataramanappa Sathish6,van Gassen Koen L I7,Hempel Maja1,Haack Tobias B8910,Baresic Anja11,Genetti Casie A1213,Funari Mariana F A14,Lessel Ivana1,Kuhlmann Leonie15,Simon Ruth6,Liu Pentao16,Denecke Jonas17,Kuechler Alma3,de Kruijff Ineke18,Shoukier Moneef19,Lek Monkol2021,Mullen Thomas2021,Lüdecke Hermann-Josef322,Lerario Antonio M2324,Kobbe Robin17,Krieger Thorsten25,Demeer Benedicte26,Lebrun Marine27,Keren Boris28,Nava Caroline28,Buratti Julien28,Afenjar Alexandra29,Shinawi Marwan30,Guillen Sacoto Maria J31,Gauthier Julie32,Hamdan Fadi F32,Laberge Anne-Marie33,Campeau Philippe M34,Louie Raymond J35,Cathey Sara S35,Prinz Immo15,Jorge Alexander A L1424,Terhal Paulien A7,Lenhard Boris1136,Wieczorek Dagmar322,Strom Tim M89,Agrawal Pankaj B1213,Britsch Stefan6,Tolosa Eva2,Kubisch Christian1

Affiliation:

1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

2. Department of Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

3. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany

4. Service de Génétique, Hospices Civils de Lyon, Lyon, France

5. Lyon Neuroscience Research Center, Inserm U1028 - CNRS UMR5292 - UCBLyon1, GENDEV Team, Bron, France

6. Institute of Molecular and Cellular Anatomy, Ulm University, Ulm, Germany

7. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

8. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

9. Institute of Human Genetics, Technische Universität München, Munich, Germany

10. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

11. Computational Regulatory Genomics Group, MRC London Institute of Medical Sciences, London, UK

12. Divisions of Genetics and Genomics and Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, USA

13. The Manton Center for Orphan Disease Research, Boston Children’s Hospital and Harvard Medical School, Boston, USA

14. Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil

15. Institute of Immunology, Hannover Medical School, Hannover, Germany

16. Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK

17. Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany

18. Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands

19. Pränatal-Medizin München, Munich, Germany

20. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, USA

21. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA

22. Institute of Human Genetics, University Clinic, Heinrich-Heine University, Düsseldorf, Germany

23. Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil

24. Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, USA

25. Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

26. Unité de Génétique Clinique, CLAD Nord de France, CHU Amiens-Picardie, Amiens, France

27. Service de Génétique Clinique, Chromosomique et Moléculaire, CHU Hôpital Nord, Saint-Etienne, France

28. Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France

29. Département de génétique médicale, Sorbonne Université, GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Centre de Référence déficiences intellectuelles de causes rares, Hôpital Armand Trousseau, F-75012 Paris, France

30. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicin, St. Louis, MO, USA

31. GeneDx, Gaithersburg, MD, USA

32. Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Canada

33. Division of Medical Genetics and Research Center, CHU Sainte-Justine and Department of Pediatrics, Université de Montréal, Montreal, Canada

34. Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Canada

35. Greenwood Genetic Center, Greenwood, South Carolina, USA

36. Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK

Funder

German Research Foundation

DFG

Studienstiftung des Deutschen Volkes

German Ministry of Research and Education

National Genome Research Network

São Paulo Research Foundation

NIH

NIAMS

NICHD

NHGRI

French Ministry of Health

French National Agency for Research

ANR

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference48 articles.

1. Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo;Arlotta;Neuron,2005

2. Ctip2 controls the differentiation of medium spiny neurons and the establishment of the cellular architecture of the striatum;Arlotta;J Neurosci,2008

3. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations;Basak;J Clin Invest,2015

4. Transcription factor Bcl11b controls identity and function of mature type 2 innate lymphoid cells;Califano;Immunity,2015

5. Diverting T helper cell trafficking through increased plasticity attenuates autoimmune encephalomyelitis;Califano;J Clin Invest,2014

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