Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeRaf family kinases: old dogs have learned new tricksShoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cellsReproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human MutationsPromyelocytic leukemia (PML) protein plays important roles in regulating cell adhesion, morphology, proliferation and migrationGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.Competing to coordinate cell fate decisions: the MST2-Raf-1 signaling device14-3-3 Proteins: diverse functions in cell proliferation and cancer progression.Disentangling the Complexity of HGF Signaling by Combining Qualitative and Quantitative Modeling.Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutantsConservation of protein abundance patterns reveals the regulatory architecture of the EGFR-MAPK pathwayPhospho-proteomic analyses of B-Raf protein complexes reveal new regulatory principles.Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.Mechanistic principles of RAF kinase signaling.Signaling to cardiac hypertrophy: insights from human and mouse RASopathies.Ras/MAPK syndromes and childhood hemato-oncological diseases.Molecular controls of arterial morphogenesis.Recent advances in RASopathies.MicroRNA-455 inhibits proliferation and invasion of colorectal cancer by targeting RAF proto-oncogene serine/threonine-protein kinase.Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.Alterations of Gab2 signalling complexes in imatinib and dasatinib treated chronic myeloid leukaemia cells.Evolution of signal multiplexing by 14-3-3-binding 2R-ohnologue protein families in the vertebrates.Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.Reversible and tissue-specific activation of MAP kinase signaling by tamoxifen in Braf(V637)ER(T2) mice.Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.From molecules to behavior: lessons from the study of rare genetic disorders.Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
P2860
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P2860
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular and clinical analysi ...... echanism for mutant activation
@ast
Molecular and clinical analysi ...... echanism for mutant activation
@en
Molecular and clinical analysi ...... echanism for mutant activation
@en-gb
Molecular and clinical analysi ...... echanism for mutant activation
@nl
type
label
Molecular and clinical analysi ...... echanism for mutant activation
@ast
Molecular and clinical analysi ...... echanism for mutant activation
@en
Molecular and clinical analysi ...... echanism for mutant activation
@en-gb
Molecular and clinical analysi ...... echanism for mutant activation
@nl
prefLabel
Molecular and clinical analysi ...... echanism for mutant activation
@ast
Molecular and clinical analysi ...... echanism for mutant activation
@en
Molecular and clinical analysi ...... echanism for mutant activation
@en-gb
Molecular and clinical analysi ...... echanism for mutant activation
@nl
P2093
P50
P3181
P356
P1433
P1476
Molecular and clinical analysi ...... echanism for mutant activation
@en
P2093
Afag Guliyeva
Albert David
Antonio G Meneses
Fumio Takada
Hirofumi Ohashi
Hiroshi Kawame
Ikuma Fujiwara
Kenji Kurosawa
Nicole Philip
Nobuhiko Okamoto
P304
P3181
P356
10.1002/HUMU.21187
P407
P577
2010-03-01T00:00:00Z