Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
- 17 June 2014
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 164 (9), 2310-2316
- https://doi.org/10.1002/ajmg.a.36646
Abstract
No abstract availableKeywords
Funding Information
- Canada Research Chairs program and the Canadian Institutes of Health Research
- National Science Centre, Poland (2011/01/D/NZ5/01347)
This publication has 23 references indexed in Scilit:
- Oncogenic RIT1 mutations in lung adenocarcinomaOncogene, 2014
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway SyndromeAmerican Journal of Human Genetics, 2013
- Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignanciesLeukemia, 2013
- Rit GTPase regulates a p38 MAPK-dependent neuronal survival pathwayNeuroscience Letters, 2012
- Predicting the Functional Effect of Amino Acid Substitutions and IndelsPLOS ONE, 2012
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairNature Genetics, 2009
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNature Protocols, 2009
- The Sequence Alignment/Map format and SAMtoolsBioinformatics, 2009
- Fast and accurate short read alignment with Burrows–Wheeler transformBioinformatics, 2009