Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
about
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingMAP'ing CNS development and cognition: an ERKsome processStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsPhosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndromeGermline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumEvolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromesNext-generation sequencing identifies rare variants associated with Noonan syndromePZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.Rabex-5 ubiquitin ligase activity restricts Ras signaling to establish pathway homeostasis in Drosophila.Identification of GATA6 sequence variants in patients with congenital heart defects.Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeSOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Shp2E76K mutant confers cytokine-independent survival of TF-1 myeloid cells by up-regulating Bcl-XL.Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutationsThe Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.NRAS mutation causes a human autoimmune lymphoproliferative syndrome.Ubiquitin on ras: warden or partner in crime?Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling.A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.New Genetic Insights into Congenital Heart Disease.Periodontal manifestations of patients with Turner's syndrome: Report of 3 casesRegulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.Genetic aspects of birth defects: new understandings of old problems.Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsProtein tyrosine phosphatases: functional inferences from mouse models and human diseases.GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanismSHP-2 tyrosine phosphatase in human diseases.The other side of Turner's: Noonan's syndromeA dual role for the adaptor protein DRK in Drosophila olfactory learning and memory.Impairment of ubiquitylation by mutation in Drosophila E1 promotes both cell-autonomous and non-cell-autonomous Ras-ERK activation in vivoA novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.The phosphatase SHP2 regulates the spacing effect for long-term memory induction.Low-dose dasatinib rescues cardiac function in Noonan syndrome.The protein tyrosine phosphatase Shp2 is required for the generation of oligodendrocyte progenitor cells and myelination in the mouse telencephalon.Protein tyrosine phosphatases in glioma biologyA Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.
P2860
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P2860
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Noonan syndrome and related di ...... in kinase signal transduction.
@ast
Noonan syndrome and related di ...... in kinase signal transduction.
@en
type
label
Noonan syndrome and related di ...... in kinase signal transduction.
@ast
Noonan syndrome and related di ...... in kinase signal transduction.
@en
prefLabel
Noonan syndrome and related di ...... in kinase signal transduction.
@ast
Noonan syndrome and related di ...... in kinase signal transduction.
@en
P356
P1476
Noonan syndrome and related di ...... in kinase signal transduction.
@en
P304
P356
10.1093/HMG/DDL197
P478
15 Spec No 2
P577
2006-10-01T00:00:00Z