Variants inCUL4Bare Associated with Cerebral Malformations-Reference-Cited by-同舟云学术

Variants inCUL4Bare Associated with Cerebral Malformations

Published:2014-12-30 Issue:1 Volume:36 Page:106-117
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vulto-van Silfhout Anneke T.¹,Nakagawa Tadashi²,Bahi-Buisson Nadia³⁴⁵,Haas Stefan A.⁶,Hu Hao⁷,Bienek Melanie⁷,Vissers Lisenka E.L.M.¹,Gilissen Christian¹,Tzschach Andreas⁷⁸,Busche Andreas⁹,Müsebeck Jörg¹⁰,Rump Patrick¹¹,Mathijssen Inge B.¹²,Avela Kristiina¹³,Somer Mirja¹³,Doagu Fatma¹⁴,Philips Anju K.¹⁴^ORCID,Rauch Anita¹⁵,Baumer Alessandra¹⁵,Voesenek Krysta¹,Poirier Karine⁴⁵,Vigneron Jacqueline¹⁶,Amram Daniel¹⁷,Odent Sylvie¹⁸,Nawara Magdalena¹⁹,Obersztyn Ewa¹⁹,Lenart Jacek¹⁹,Charzewska Agnieszka¹⁹,Lebrun Nicolas⁴⁵,Fischer Ute⁷,Nillesen Willy M.¹,Yntema Helger G.¹,Järvelä Irma¹⁴,Ropers Hans-Hilger⁷,de Vries Bert B.A.¹²⁰,Brunner Han G.¹,van Bokhoven Hans¹²⁰,Raymond F. Lucy²¹,Willemsen Michèl A.A.P.²²,Chelly Jamel⁴⁵,Xiong Yue²,Barkovich A. James²³,Kalscheuer Vera M.⁷,Kleefstra Tjitske¹²⁰,de Brouwer Arjan P.M.¹²⁰

Affiliation:

1. Department of Human Genetics; Radboud Institute for Molecular Life Sciences and Donders Institute for Brain; Cognition and Behaviour; Radboud university medical center; Nijmegen The Netherlands

2. Department of Biochemistry and Biophysics; University of North Carolina at Chapel Hill; Chapel Hill North Carolina

3. Neurologie pédiatrique; Hopital Necker Enfants Malades; Université Paris Descartes; APHP; Paris France

4. Institut Cochin, Université Paris-Descartes; CNRS (UMR 8104); Paris France

5. Inserm; U1016; Paris France

6. Department of Computational Molecular Biology; Max Planck Institute for Molecular Genetics; Berlin Germany

7. Department of Human Molecular Genetics; Max Planck Institute for Molecular Genetics; Berlin Germany

8. Institute of Human Genetics; University of Tuebingen; Tuebingen Germany

9. Institute of Human Genetics; University Medical Center Freiburg; Freiburg Germany

10. Centre for Human Genetics; University of Bremen; Bremen Germany

11. Department of Genetics; University of Groningen; University Medical Center Groningen; Groningen The Netherlands

12. Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands

13. Norio Center; Rinnekoti Foundation Helsinki Finland

14. Department of Medical Genetics; University of Helsinki; Helsinki Finland

15. Institute of Medical Genetics; University of Zurich; Schlieren Switzerland

16. Department of Human Genetics; Regional Maternity University Adolphe Pinard; Nancy France

17. Department of Human Genetics; Creteil France

18. Department of Clinical Genetics; CHU Rennes; UMR 6290 CNRS; Université of Rennes; Rennes France

19. Department of Medical Genetics; Institute of Mother and Child; Warsaw Poland

20. Department of Cognitive Neurosciences; Donders Institute for Brain; Cognition and Behaviour; Radboud University Nijmegen; Nijmegen The Netherlands

21. Department of Medical Genetics; University of Cambridge; Cambridge United Kingdom

22. Department of Pediatric Neurology; Radboud university medical center; Nijmegen The Netherlands

23. Departments of Radiology; Neurology, Pediatrics and Neurosurgery; University of California San Francisco; San Francisco California

Funder

Netherlands Organisation for Health Research and Development

European Commission

Foundation for the National Institutes of Health

Dutch Brain Foundation

German ministry of education and researech (MRNET)

max planck innovation funds

Polish Ministry of Science and Higher Education

Sigrid Julius foundation

van Leersum fonds

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference46 articles.

1. Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery;Angers;Nature,2006

2. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome;Badura-Stronka;Clin Genet,2010

3. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations;Bhat;Clin Genet,2011

4. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations;Bilguvar;Nature,2010

5. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25;Cabezas;J Med Genet,2000

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