Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
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MAPKs in development: insights from Dictyostelium signaling pathwaysThe RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationThe RASopathiesFibroblast growth factor receptor 1 signaling in adult cardiomyocytes increases contractility and results in a hypertrophic cardiomyopathyPhosphorylation of Williams syndrome transcription factor by MAPK induces a switching between two distinct chromatin remodeling complexesRAS oncogenes: weaving a tumorigenic webMitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.P2A-Fluorophore Tagging of BRAF Tightly Links Expression to Fluorescence In VivoRas and Rap signaling in synaptic plasticity and mental disorders.Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculatureKinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentPZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.Ras in cancer and developmental diseasesAutism traits in the RASopathies.Syndrome in question. Costello syndrome.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemiaComprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyBRAF gene: From human cancers to developmental syndromes.In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.The function of Shoc2: A scaffold and beyond.New approaches for modelling sporadic genetic disease in the mouseMolecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Dermatological manifestations of inherited cancer syndromes in children.Ubiquitination: Added complexity in Ras and Rho family GTPase function.Deconstructing signal transduction pathways that regulate the actin cytoskeleton in dendritic spines.Putative role of HIF transcriptional activity in melanocytes and melanoma biology.Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathyA Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.Mutually exclusive extracellular signal-regulated kinase pathway mutations are present in different stages of multi-focal pulmonary Langerhans cell histiocytosis supporting clonal nature of the disease.Diagnostically relevant facial gestalt information from ordinary photos.Segregation of negatively charged phospholipids by the polycationic and farnesylated membrane anchor of Kras.
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Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 December 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@en
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@nl
type
label
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@en
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@nl
prefLabel
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@en
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@nl
P2860
P1476
Noonan, Costello and cardio-fa ...... ation of the Ras-MAPK pathway.
@en
P2093
Katherine A Rauen
William E Tidyman
P2860
P356
10.1017/S1462399408000902
P577
2008-12-09T00:00:00Z