An attenuated phenotype of Costello syndrome in three unrelated individuals with aHRASc.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences-Reference-Cited by-同舟云学术

An attenuated phenotype of Costello syndrome in three unrelated individuals with aHRASc.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

Published:2015-04-25 Issue:9 Volume:167 Page:2085-2097
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gripp Karen W.¹,Sol-Church Katia²,Smpokou Patroula³,Graham Gail E.⁴,Stevenson David A.⁵,Hanson Heather⁶,Viskochil David H.⁶,Baker Laura C.¹,Russo Bridget²,Gardner Nick²,Stabley Deborah L.²,Kolbe Verena⁷,Rosenberger Georg⁷

Affiliation:

1. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington Delaware

2. Center for Applied Clinical Genomics; A. I. duPont Hospital for Children; Wilmington Delaware

3. Division of Genetics and Metabolism; Children's National Health System; Washington District of Columbia

4. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

5. Division of Medical Genetics; Stanford University; Stanford California

6. Division of Medical Genetics; Department of Pediatrics; University of Utah; Salt Lake City Utah

7. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

Funder

The Nemours Foundation

NIH-NIGMS

University of Utah Clinical Genetics Research Program: Phenotyping Core (CGRP)

National Center for Research Resources

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37128/fullpdf

Reference52 articles.

1. Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP;Ahmadian;J Mol Biol,2003

2. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

3. The structural basis of the activation of Ras by Sos;Boriack-Sjodin;Nature,1998

4. Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor;Cichowski;Genes Dev,2003

5. A restricted spectrum of NRAS mutations causes Noonan syndrome;Cirstea;Nat Genet,2010

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