HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
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A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive conditionThe cardiofaciocutaneous syndromeSmall G proteins in the cardiovascular system: physiological and pathological aspectsThe RASopathiesMutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationHyperactive Ras in developmental disorders and cancerRas and Rap signaling in synaptic plasticity and mental disorders.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumDermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentNoonan syndrome: clinical aspects and molecular pathogenesis.Therapeutic intervention based on protein prenylation and associated modificationsAnaplastic rhabdomyosarcoma in TP53 germline mutation carriersCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsDevelopment of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutationsProbing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems.A mouse model of rhabdomyosarcoma originating from the adipocyte lineage.An unexpected new role of mutant Ras: perturbation of human embryonic developmentHRAS and the Costello syndrome.MKK signaling and vascularization.What's new in the neuro-cardio-facial-cutaneous syndromes?De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsThe RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogeneNoonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation.Abnormal 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.Modeling craniofacial and skeletal congenital birth defects to advance therapies.Modeling RASopathies with Genetically Modified Mouse Models.HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.Genotype and phenotype spectrum of NRAS germline variants.Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndromeGermline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.Functional specificity of ras isoforms: so similar but so different.Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
P2860
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P2860
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@en
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@nl
type
label
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@en
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@nl
prefLabel
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@en
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@nl
P2093
P356
P1476
HRAS mutations in Costello syn ...... ild-type allele in malignancy.
@en
P2093
Anne L Estep
Katherine A Rauen
Michael A Teitell
Philip D Cotter
William E Tidyman
P356
10.1002/AJMG.A.31078
P407
P577
2006-01-01T00:00:00Z