Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity-Reference-Cited by-同舟云学术

Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Published:2014-06-17 Issue:9 Volume:164 Page:2310-2316
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gos Monika¹,Fahiminiya Somayyeh²,Poznański Jarosław³,Klapecki Jakub¹,Obersztyn Ewa¹,Piotrowicz Małgorzata⁴,Wierzba Jolanta⁵⁶,Posmyk Renata⁷,Bal Jerzy¹,Majewski Jacek²

Affiliation:

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

2. Department of Human Genetics; McGill University and Genome Quebec Innovation Centre; Montreal Canada

3. Department of Biophysics; Institute of Biochemistry and Biophysics; Polish Academy of Sciences; Warsaw Poland

4. Department of Genetics; Polish Mother's Memorial Hospital- Research Institute; Łódź Poland

5. Department and Clinic of Pediatrics, Hematooncology, Oncology and Endocrinology; Medical University of Gdańsk; Gdańsk Poland

6. Department of General Nursing; Medical University of Gdańsk; Gdańsk Poland

7. NZOZ Genetics; Center for Clinical Genetics; Białystok Poland

Funder

Canada Research Chairs program and the Canadian Institutes of Health Research

National Science Centre, Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36646/fullpdf

Reference24 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013

3. Oncogenic RIT1 mutations in lung adenocarcinoma;Berger;Oncogene.,2014

4. Rit GTPase regulates a p38 MAPK-dependent neuronal survival pathway;Cai;Neurosci Lett,2012

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