Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeMutation in NRAS in familial Noonan syndrome--case report and review of the literatureRASopathies: unraveling mechanisms with animal modelsPhosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndromePZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafishHeterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.MEK Inhibitors Reverse cAMP-Mediated Anxiety in ZebrafishMutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotypeMultiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.Ras/MAPK syndromes and childhood hemato-oncological diseases.The Power of Zebrafish in Personalised Medicine.Testing for Noonan syndrome after increased nuchal translucency.Genotype and phenotype spectrum of NRAS germline variants.A Pak1/Erk signaling module acts through Gata6 to regulate cardiovascular development in zebrafish.NRAS Mutations in Noonan Syndrome.How activating mutations affect MEK1 regulation and function.Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
P2860
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P2860
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
description
2011 nî lūn-bûn
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
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2011年论文
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name
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@en
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@nl
type
label
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@en
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@nl
prefLabel
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@en
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@nl
P2093
P2860
P356
P1476
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
@en
P2093
Arie van Haeringen
Boudewijn Burgering
Helger G Yntema
Holger Rehmann
Ineke van der Burgt
Jeroen den Hertog
John Overvoorde
Mark van Eekelen
Vincent Runtuwene
Willy M Nillesen
P2860
P304
P356
10.1242/DMM.007112
P577
2011-01-24T00:00:00Z