Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations-Reference-Cited by-同舟云学术

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Published:2018-09-23 Issue:11 Volume:176 Page:2470-2478
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Assoum Mirna¹,Lines Matthew A.²,Elpeleg Orly³^ORCID,Darmency Véronique⁴,Whiting Sharon⁵,Edvardson Simon³,Devinsky Orrin⁶,Heinzen Erin⁷,Hernan Rebecca Rose⁸,Antignac Corinne⁹¹⁰,Deleuze Jean-François¹¹,Des Portes Vincent¹²¹³,Bertholet-Thomas Aurélie¹⁴¹⁵,Belot Alexandre¹⁴¹⁵,Geller Eric⁶,Lemesle Martine⁴,Duffourd Yannis¹¹⁶¹⁷,Thauvin-Robinet Christel¹¹⁶¹⁷¹⁸,Thevenon Julien¹¹⁶¹⁷,Chung Wendy¹⁹,Lowenstein Daniel H.²⁰,Faivre Laurence¹¹⁶¹⁷¹⁸^ORCID

Affiliation:

1. Génétique des Anomalies du Développement; UMR1231, Université de Bourgogne; Dijon France

2. Division of Metabolics; Children's Hospital of Eastern Ontario; Ottawa Canada

3. Monique and Jacques Roboh Department of Genetic Research; Hadassah-Hebrew University Medical Center; Jerusalem Israel

4. Service de Neurophysiologie Clinique Pole Neurosciences Hôpital d'Enfants; Dijon France

5. Division of Neurology; Children's Hospital of Eastern Ontario; Ottawa Canada

6. NYU and Saint Barnabas Epilepsy Centers NYU School of Medicine; New York New York

7. Institute for Genomic Medicine Columbia University Medical Center; New York New York

8. Department of Pediatrics and Molecular Genetics; Columbia University; New York New York

9. Laboratoire de Génétique Moléculaire, Institut de Recherche Necker Enfants Malades; CHU Paris - Hôpital Necker-Enfants Malades; Paris France

10. Equipe Néphropathies héréditaires et rein en développement; Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades; Paris France

11. Centre National de Génotypage; Evry France

12. Centre de référence « Déficiences Intellectuelles de causes rares », HFME, HCL F-69675; Bron France

13. ISC CNRS UMR 5304, Université de Lyon; Lyon France

14. Centre de référence des rhumatismes inflammatoires et des maladies auto-immunes systémiques rares de l'enfant (RAISE), HFME HCL INSERM U1111; Lyon France

15. Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hôpital Femme Mère Enfant Hospices Civils de Lyon GH Est; Bron France

16. Fédération Hospitalo-Universitaire TRANSLAD CHU Dijon et Université de Bourgogne-Franche Comté; Dijon France

17. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est CHU; Dijon France

18. Centre de Référence Déficience Intellectuelle de causes rares (Defi-Bourgogne), CHU; Dijon France

19. Kennedy Family Professor of Pediatrics and Medicine; Columbia University; New York New York

20. Department of Neurology; University of California, San Francisco; San Francisco California

Funder

National Institute of Neurological Disorders and Stroke

Regional Council of Burgundy

Trudy Mandel Louis Charitable Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40357/fullpdf

Reference36 articles.

1. Trim24 targets endogenous p53 for degradation;Allton;Proceedings of the National Academy of Sciences of the United States of America,2009

2. PML enhances the regulation of p53 by CK1 in response to DNA damage;Alsheich-Bartok;Oncogene,2008

3. Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration;Balastik;Proceedings of the National Academy of Sciences of the United States of America,2008

4. TRIM8 anti-proliferative action against chemo-resistant renal cell carcinoma;Caratozzolo;Oncotarget,2014

5. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome;Colin;American Journal of Human Genetics,2014

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