Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
about
The RASopathiesThe intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathwayDermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentContinual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafishCardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemiaHuman iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello SyndromeMEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors.A cellular star atlas: using astrocytes from human pluripotent stem cells for disease studiesAbnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Ras/MAPK syndromes and childhood hemato-oncological diseases.Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions.Recent advances in RASopathies.C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.Combinatorial Resistance: The Best Defense is a Good Offense.Expression profiling of 519 kinase genes in matched malignant peripheral nerve sheath tumor/plexiform neurofibroma samples is discriminatory and identifies mitotic regulators BUB1B, PBK and NEK2 as overexpressed with transformation.
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P2860
Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
description
2011 nî lūn-bûn
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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@ast
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@en
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@nl
type
label
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@ast
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@en
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@nl
prefLabel
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@ast
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@en
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@nl
P2093
P2860
P356
P1476
Costello and cardio-facio-cuta ...... linical trials in RASopathies.
@en
P2093
Anuradha Banerjee
David H Viskochil
Frank McCormick
Jennifer O Lauchle
Judith Sebolt-Leopold
Katherine A Rauen
Martin McMahon
Pamela N Munster
Roger J Packer
Sorena Nadaf
P2860
P304
P356
10.1002/AJMG.C.30294
P577
2011-04-14T00:00:00Z