Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

A novelHRASsubstitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

(2012) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

(2012) Sybille Lorenz et al.   European Journal of Medical Genetics

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Four faces of cellular senescence

(2011) Francis Rodier et al.   JOURNAL OF CELL BIOLOGY

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

(2011) Tetsuya Niihori et al.   JOURNAL OF HUMAN GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oncogene-induced senescence: the bright and dark side of the response

(2010) Vassilis G Gorgoulis et al.   CURRENT OPINION IN CELL BIOLOGY

Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome

(2009) Laura P. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

(2009) Lothar Gremer et al.   HUMAN MOLECULAR GENETICS

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

(2009) Angela E. Lin et al.   PRENATAL DIAGNOSIS

Costello syndrome associated with novel germlineHRAS mutations: An attenuated phenotype?

(2008) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells

(2008) C. Santoriello et al.   Disease Models & Mechanisms

Novel type of Ras effector interaction established between tumour suppressor NORE1A and Ras switch II

(2008) Benjamin Stieglitz et al.   EMBO JOURNAL

OncogenicHRASmutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

(2008) Georg Rosenberger et al.   HUMAN MUTATION

Ras oncogenes: split personalities

(2008) Antoine E. Karnoub et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutation analysis in Costello syndrome: functional and structural characterization of theHRASp.Lys117Arg mutation

(2007) Ellen Denayer et al.   HUMAN MUTATION