A restricted spectrum of NRAS mutations causes Noonan syndrome
about
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeDisruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderMutation in NRAS in familial Noonan syndrome--case report and review of the literatureOf mice and men: molecular genetics of congenital heart diseaseNoonan syndromeThe RASopathiesNovel allosteric sites on Ras for lead generationMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsWhat Is New in Genetics of Congenital Heart Defects?RAS diseases in childrenCurrent management of juvenile myelomonocytic leukemia and the impact of RAS mutationsExpansion of the RASopathiesDeriving cell lines from zebrafish embryos and tumorsGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Ras history: The saga continues.Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Next-generation sequencing identifies rare variants associated with Noonan syndromeHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Ras in cancer and developmental diseasesStructure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsActivation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsAutism traits in the RASopathies.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutationNoonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner.Bone resorption in syndromes of the Ras/MAPK pathway.PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?Specific cancer-associated mutations in the switch III region of Ras increase tumorigenicity by nanocluster augmentation.Ras trafficking, localization and compartmentalized signallingReverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutantsContextualizing the Genes Altered in Bladder Neoplasms in Pediatric andTeen Patients Allows Identifying Two Main Classes of Biological ProcessesInvolved and New Potential Therapeutic TargetsMultiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASDefective K-Ras oncoproteins overcome impaired effector activation to initiate leukemia in vivoGenetic predispositions to childhood leukemia.
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A restricted spectrum of NRAS mutations causes Noonan syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին 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
A restricted spectrum of NRAS mutations causes Noonan syndrome
@ast
A restricted spectrum of NRAS mutations causes Noonan syndrome
@en
A restricted spectrum of NRAS mutations causes Noonan syndrome
@nl
type
label
A restricted spectrum of NRAS mutations causes Noonan syndrome
@ast
A restricted spectrum of NRAS mutations causes Noonan syndrome
@en
A restricted spectrum of NRAS mutations causes Noonan syndrome
@nl
prefLabel
A restricted spectrum of NRAS mutations causes Noonan syndrome
@ast
A restricted spectrum of NRAS mutations causes Noonan syndrome
@en
A restricted spectrum of NRAS mutations causes Noonan syndrome
@nl
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A restricted spectrum of NRAS mutations causes Noonan syndrome
@en
P2093
Amy E Roberts
Cesare Rossi
Christian P Kratz
Cristina Digilio
Denise Horn
Eva Seemanova
Ion C Cirstea
Len A Pennacchio
Maria L Dentici
Michael A Patton
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P2888
P3181
P356
10.1038/NG.497
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P50
P577
2010-01-01T00:00:00Z
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P6179
1021808992