about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisA Novel SHOC2 Variant in RasopathyERK1 and ERK2 Map Kinases: Specific Roles or Functional Redundancy?The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia.RASopathies: unraveling mechanisms with animal modelsContribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneityExpansion of the RASopathiesBRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndromeMir-132/212 is required for maturation of binocular matching of orientation preference and depth perception.Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Next-generation sequencing identifies rare variants associated with Noonan syndromeDiagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumorsStructure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsUnderstanding intellectual disability through RASopathies.K-RasV14I recapitulates Noonan syndrome in mice.Fate and plasticity of the epidermis in response to congenital activation of BRAF.Dentate Gyrus Development Requires ERK Activity to Maintain Progenitor Population and MAPK Pathway Feedback Regulation.A Genetic Porcine Model of CancerHaploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formationHuman Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling.Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.Distinct roles of the RasGAP family proteins in C. elegans associative learning and memoryCerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerismsDifferential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome familyMEK Inhibitors Reverse cAMP-Mediated Anxiety in ZebrafishA Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.Dynamics of Inductive ERK Signaling in the Drosophila Embryo.Critical roles for murine Reck in the regulation of vascular patterning and stabilization.126 novel mutations in Italian patients with neurofibromatosis type 1.HSF1: Guardian of Proteostasis in CancerInteraction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.RAS and downstream RAF-MEK and PI3K-AKT signaling in neuronal development, function and dysfunctionLayer specific and general requirements for ERK/MAPK signaling in the developing neocortexGenetics of Bladder Malignant Tumors in ChildhoodRSK3 is required for concentric myocyte hypertrophy in an activated Raf1 model for Noonan syndrome.Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The RASopathies
@ast
The RASopathies
@en
The RASopathies
@nl
type
label
The RASopathies
@ast
The RASopathies
@en
The RASopathies
@nl
prefLabel
The RASopathies
@ast
The RASopathies
@en
The RASopathies
@nl
P2860
P3181
P1476
The RASopathies
@en
P2093
Katherine A. Rauen
P2860
P304
P356
10.1146/ANNUREV-GENOM-091212-153523
P407
P577
2013-01-01T00:00:00Z