Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
about
Catalytically active membrane-distal phosphatase domain of receptor protein-tyrosine phosphatase alpha is required for Src activationFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingDistinct requirement for an intact dimer interface in wild-type, V600E and kinase-dead B-Raf signallingRaf family kinases: old dogs have learned new tricksMutation in NRAS in familial Noonan syndrome--case report and review of the literatureNoonan syndromeThe neural crest in cardiac congenital anomaliesMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsCurrent management of juvenile myelomonocytic leukemia and the impact of RAS mutationsThe intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathwayStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeParaspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.Noonan syndrome: clinical aspects and molecular pathogenesis.Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsClinical and Molecular Findings of Tunisian Patients with RASopathies.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsMitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.Understanding intellectual disability through RASopathies.Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600)Noonan syndrome and clinically related disorders.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsBRAF gene: From human cancers to developmental syndromes.Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genesAtrioventricular canal defect in patients with RASopathies.The etiology and molecular genetics of human pigmentation disordersDabrafenib in an elderly patient with metastatic melanoma and BRAF V600R mutation: a case reportGenetic predispositions to childhood leukemia.Functional evaluation of circulating hematopoietic progenitors in Noonan syndromeNegative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Noonan syndrome - a new survey.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.Metabolic cutis laxa syndromes.Piebaldism.
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P2860
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@ast
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@en
type
label
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@ast
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@en
prefLabel
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@ast
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@en
P2093
P2860
P50
P356
P1433
P1476
Germline BRAF mutations in Noo ...... associated phenotypic spectrum
@en
P2093
Angelo Selicorni
Anna Paola Scioletti
Anna Sarkozy
Bruce D Gelb
Bruno Marino
Efisio Puxeddu
Francesca Faravelli
Francesca Pantaleoni
Franco Stanzial
Giorgia Esposito
P2860
P304
P356
10.1002/HUMU.20955
P50
P577
2009-04-01T00:00:00Z