Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeGain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeDistinct requirement for an intact dimer interface in wild-type, V600E and kinase-dead B-Raf signallingRaf family kinases: old dogs have learned new tricksMEKK3 initiates transforming growth factor beta 2-dependent epithelial-to-mesenchymal transition during endocardial cushion morphogenesisThe RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationA mouse model for Costello syndrome reveals an Ang II-mediated hypertensive conditionThe cardiofaciocutaneous syndromeMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusGenetic testing in congenital heart disease: A clinical approachSomatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma PapilliferumOf mice and men: molecular genetics of congenital heart diseaseNoonan syndromeSmall G proteins in the cardiovascular system: physiological and pathological aspectsThe RASopathiesMelanoma: from mutations to medicineAblation of BRaf impairs neuronal differentiation in the postnatal hippocampus and cerebellumA restricted spectrum of NRAS mutations causes Noonan syndromeStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsDissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling.Neurocutaneous Manifestations of Genetic MosaicismRheb inhibits C-raf activity and B-raf/C-raf heterodimerizationRAS diseases in childrenCurrent management of juvenile myelomonocytic leukemia and the impact of RAS mutationsGermline gain-of-function mutations in SOS1 cause Noonan syndromeMitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.Dysmorphology demystifiedStops along the RAS pathway in human genetic diseaseExpansion of the RASopathiesB-raf alternative splicing is dispensable for development but required for learning and memory associated with the hippocampus in the adult mouseThe neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 miceLIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndromeMitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant TransformationTargeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancerRas history: The saga continues.Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndromeRas and Rap signaling in synaptic plasticity and mental disorders.Synaptic plasticity, AMPA-R trafficking, and Ras-MAPK signaling.Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.
P2860
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P2860
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
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
name
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@ast
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@en
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@nl
type
label
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@ast
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@en
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@nl
prefLabel
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@ast
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@en
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
@en
P2093
Clarisse Baumann
Delphine Heron
Dominique Bonneau
Giovanni Neri
Giuseppina Corona
Hirofumi Ohashi
Kenji Kurosawa
Kenji Naritomi
Louise Wilson
P2860
P2888
P3181
P356
10.1038/NG1749
P407
P577
2006-03-01T00:00:00Z
P6179
1044436511