HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. - Wikidata - awgldk - TriplyDB

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

http://www.wikidata.org/entity/Q51923630

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A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition The cardiofaciocutaneous syndrome Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model Hyperactive Ras in developmental disorders and cancer Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development Noonan syndrome: clinical aspects and molecular pathogenesis.Therapeutic intervention based on protein prenylation and associated modifications Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.Noonan syndrome and related disorders: alterations in growth and puberty.The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer New Genetic Insights into Congenital Heart Disease.[Costello syndrome: report of a case].Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.An unexpected new role of mutant Ras: perturbation of human embryonic development HRAS and the Costello syndrome.What's new in the neuro-cardio-facial-cutaneous syndromes?Ras proteins: paradigms for compartmentalised and isoform-specific signalling.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 mutations Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.The 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 oncogene Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.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.Signaling to cardiac hypertrophy: insights from human and mouse RASopathies.Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.The twisting tale of woolly hair: a trait with many causes.HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

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P2860

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

http://www.wikidata.org/entity/Q51923630

description

2006 nî lūn-bûn

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2006年の論文

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2006年学术文章

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2006年学术文章

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2006年學術文章

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2006年學術文章

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name

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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type

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

@nl

prefLabel

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

@en

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

@nl

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American Journal of Medical Genetics

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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Angela E Lin

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Antonio Gonzalez-Meneses

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Charles I Scott

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Cynthia A Agresta

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Daniel Doyle

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Deborah L Stabley

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Elaine H Zackai

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Iris L Gonzalez

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Jennifer Holbrook

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Karen W Gripp

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P2860

p53 mutational spectra and the role of methylated CpG sequences.

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10.1002/AJMG.A.31047

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