2016
RASopathy Gene Mutations in Melanoma
Halaban R, Krauthammer M. RASopathy Gene Mutations in Melanoma. Journal Of Investigative Dermatology 2016, 136: 1755-1759. PMID: 27236105, PMCID: PMC4992636, DOI: 10.1016/j.jid.2016.05.095.Peer-Reviewed Original ResearchConceptsRASopathy mutationsRAS/mitogen-activated protein kinaseRAS/mitogen-activated protein kinase (MAPK) pathwayMitogen-activated protein kinase pathwayMitogen-activated protein kinaseProtein kinase pathwayAmino acid substitutionsNext-generation sequencingProtein kinasePathway genesKinase pathwaySequencing dataDriver genesAcid substitutionsGenomic abnormalitiesMutationsLegius syndromeGenesAbundant mutationsGermline mutationsGene mutationsPathwaySignificant overlapKinaseMelanomagenesis
2014
Sequencing HNC: Emergence of Notch Signaling
Pickering C, Ow T, Myers J. Sequencing HNC: Emergence of Notch Signaling. Current Cancer Research 2014, 303-323. DOI: 10.1007/978-1-4614-8815-6_15.ChaptersTumor suppressor geneSuppressor geneImportant tumor suppressor geneRecent sequencing studiesNeck cancer progressionIdentification of mutationsBiology of headSurprising new findingsNotch signalingGene Notch1Notch pathwaySequencing studiesCancer progressionGenomic abnormalitiesChromosomal alterationsMutationsGenesNotch1PathwayFrequent eventNew lightNeck cancerSignalingBiologyTP53 mutationsCombined analysis of gene expression, DNA copy number, and mutation profiling data to display biological process anomalies in individual breast cancers
Shi W, Balazs B, Györffy B, Jiang T, Symmans WF, Hatzis C, Pusztai L. Combined analysis of gene expression, DNA copy number, and mutation profiling data to display biological process anomalies in individual breast cancers. Breast Cancer Research And Treatment 2014, 144: 561-568. PMID: 24619174, DOI: 10.1007/s10549-014-2904-z.Peer-Reviewed Original ResearchConceptsDNA copy numberBiological processesIndividual molecular eventsCopy numberGene expressionMolecular eventsMulticellular organismal processGene Ontology databaseGO biological processesSignal transduction pathwaysOrganismal processesGO termsMolecular dataTransduction pathwaysSiRNA screenComplex genomic abnormalitiesIndividual cancersOntology databaseFunctional roleDriver eventsCell growthSequence abnormalitiesBreast cancer cell linesCancer cell linesGenomic abnormalities
2013
Karyotype Versus Microarray Testing for Genetic Abnormalities After Stillbirth
Reddy U, Page G, Saade G, Silver R, Thorsten V, Parker C, Pinar H, Willinger M, Stoll B, Heim-Hall J, Varner M, Goldenberg R, Bukowski R, Wapner R, Drews-Botsch C, O’Brien B, Dudley D, Levy B. Karyotype Versus Microarray Testing for Genetic Abnormalities After Stillbirth. Obstetrical & Gynecological Survey 2013, 68: 278-280. DOI: 10.1097/01.ogx.0000429295.65513.69.Peer-Reviewed Original ResearchMicroarray analysisUnknown significancePathogenic variantsAntepartum stillbirthPostmortem examinationKaryotype analysisMore abnormalitiesPlacental tissueMicroarray resultsStillbirth Collaborative Research NetworkBenign variantsMicroarray testingPopulation-based studyGenomic abnormalitiesGeographic catchment areaStandard karyotype analysisCopy number variantsCord bloodClinical significanceNonviable tissueClinical relevanceStillbirthAbnormal karyotypeClinical implicationsFetal tissues
2012
Studying a Complex Tumor
Zheng S, Chheda M, Verhaak R. Studying a Complex Tumor. The Cancer Journal 2012, 18: 107-114. PMID: 22290264, PMCID: PMC3342695, DOI: 10.1097/ppo.0b013e3182431c57.Peer-Reviewed Original ResearchConceptsGenomic alterationsRecurrent genomic alterationsDNA copy numberGenomic studiesGenomic researchCopy numberExpression signaturesGenomic abnormalitiesGlioblastoma multiforme samplesExpression subtypesNew insightsGenesGlioblastoma multiformeGlioblastoma multiforme therapyHeterogeneous diseaseHigh specificityAlterationsTP53IDH1Identification
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply