Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
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Mutation in NRAS in familial Noonan syndrome--case report and review of the literatureRASopathies: unraveling mechanisms with animal modelsA RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressorExpansion of the RASopathiesGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.K-RasV14I recapitulates Noonan syndrome in mice.Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromesActivating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome familyThe RAS-Effector Interface: Isoform-Specific Differences in the Effector Binding RegionsThe genomic landscape of juvenile myelomonocytic leukemia.Differential Proteomic Analysis of Human Placenta-Derived Mesenchymal Stem Cells Cultured on Normal Tissue Culture Surface and Hyaluronan-Coated Surface.Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations.Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.Recent advances in RASopathies.Modeling RASopathies with Genetically Modified Mouse Models.Testing for Noonan syndrome after increased nuchal translucency.Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.Genotype and phenotype spectrum of NRAS germline variants.The Function of Embryonic Stem Cell-expressed RAS (E-RAS), a Unique RAS Family Member, Correlates with Its Additional Motifs and Its Structural Properties.Intellectual development in Noonan syndrome: a longitudinal study.The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.Pathogenetics of the RASopathies.The genomic landscape of pediatric myelodysplastic syndromes.Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.An Oncogenic ALK Fusion and an RRAS Mutation in KRAS Mutation-Negative Pancreatic Ductal Adenocarcinoma.Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.Constitutional bone impairment in Noonan syndrome.K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
P2860
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P2860
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@ast
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en-gb
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@nl
type
label
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@ast
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en-gb
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@nl
prefLabel
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@ast
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en-gb
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@nl
P2093
P2860
P50
P3181
P356
P1476
Activating mutations in RRAS u ...... contribute to leukaemogenesis
@en
P2093
Amy E Roberts
Andrea Farrotti
Angelo Selicorni
Antonio Palleschi
Aurélie Caye
Benoît Brethon
Bronwyn Kerr
Bruce D Gelb
Cesare Rossi
Emilia Stellacci
P2860
P304
P3181
P356
10.1093/HMG/DDU148
P407
P50
P577
2014-08-15T00:00:00Z