Pathogenetics of the RASopathies

SYNGAP1: Mind the Gap

(2016) Nallathambi Jeyabalan et al.   Frontiers in Cellular Neuroscience

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

(2015) Viviana Cordeddu et al.   HUMAN MUTATION

External ear anomalies and hearing impairment in Noonan Syndrome

(2015) Dorothée C. van Trier et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Recurrent inactivating RASA2 mutations in melanoma

(2015) Rand Arafeh et al.   NATURE GENETICS

Dragging Ras Back in the Ring

(2014) Andrew G. Stephen et al.   CANCER CELL

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

(2014) Lisenka ELM Vissers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

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

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Rit subfamily small GTPases: Regulators in neuronal differentiation and survival

(2013) Geng-Xian Shi et al.   CELLULAR SIGNALLING

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

The LDL Receptor-Related Protein 1 (LRP1) Regulates the PDGF Signaling Pathway by Binding the Protein Phosphatase SHP-2 and Modulating SHP-2- Mediated PDGF Signaling Events

(2013) Julie Craig et al.   PLoS One

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

(2011) Michael Kraft et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

(2009) C. Anastasaki et al.   HUMAN MOLECULAR GENETICS

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE