Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex-Reference-Cited by-同舟云学术

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Published:2011-03-08 Issue:4 Volume:32 Page:424-435
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hoogeveen‐Westerveld Marianne¹,Wentink Marjolein¹,van den Heuvel Diana¹,Mozaffari Melika¹,Ekong Rosemary²,Povey Sue²,den Dunnen Johan T.³,Metcalfe Kay⁴,Vallee Stephanie⁵,Krueger Stefan⁶,Bergoffen JoAnn⁷,Shashi Vandana⁸,Elmslie Frances⁹,Kwiatkowski David¹⁰,Sampson Julian¹¹,Vidales Concha¹²,Dzarir Jacinta¹³,Garcia‐Planells Javier¹⁴,Dies Kira¹⁵,Maat‐Kievit Anneke¹,van den Ouweland Ans¹,Halley Dicky¹,Nellist Mark¹

Affiliation:

1. Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands

2. Research Department of Genetics, Evolution and Environment, University College London, London, United Kingdom

3. Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands

4. Department of Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom

5. Department of Clinical Genetics, Dartmouth–Hitchcock Medical Center, Lebanon, New Hampshire

6. Center for Human Genetics, Dresden, Germany

7. Department of Genetics, Kaiser Permanente San Jose Medical Center, San Jose, California

8. Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

9. Department of Medical Genetics, St. George's Hospital, London, United Kingdom

10. Translational Medicine Division, Brigham and Womens Hospital, Boston, Massachusetts

11. Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom

12. Department of Molecular Genetics, Policlinica Gipuzka, San Sebastian, Spain

13. Department of Molecular Genetics, The Prince of Wales Hospital, Randwick, Australia

14. Institute of Medical Genomics, University of Valencia, Valencia, Spain

15. Department of Neurology, Children's Hospital Boston, Boston, Massachusetts

Funder

The U.S. Department of Defense Congressionally-Directed Medical Research Program

The Michelle Foundation

The Tuberous Sclerosis Alliance

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21451

Reference31 articles.

1. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

2. A reliable cell-based assay for testing unclassified TSC2 gene variants

3. Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

4. The GTPase-activating protein Rap1GAP uses a catalytic asparagine

5. Identification and characterization of the tuberous sclerosis gene on chromosome 16

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