Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

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

(2014) Monika Gos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further evidence of the importance ofRIT1in Noonan syndrome

(2014) Débora R. Bertola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of Small GTPases by GEFs, GAPs, and GDIs

(2013) Jacqueline Cherfils et al.   PHYSIOLOGICAL REVIEWS

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish

(2012) C. Anastasaki et al.   Disease Models & Mechanisms

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

(2011) V. Runtuwene et al.   Disease Models & Mechanisms

An evolutionarily conserved Rit GTPase–p38 MAPK signaling pathway mediates oxidative stress resistance

(2011) Weikang Cai et al.   MOLECULAR BIOLOGY OF THE CELL