2020
Chapter 6 Molecular genetics of meningiomas
Youngblood MW, Günel M. Chapter 6 Molecular genetics of meningiomas. Handbook Of Clinical Neurology 2020, 169: 101-119. PMID: 32553282, DOI: 10.1016/b978-0-12-804280-9.00006-8.Peer-Reviewed Original ResearchConceptsMolecular mechanismsNext-generation sequencing techniquesComprehensive genomic studiesRecent genomic findingsGenomic studiesPotential molecular therapyMolecular geneticsSequencing techniquesGenomic pathwayOncogenic pathwaysNumber eventsGenomic findingsDriver mutationsMutationsBasic science investigatorsPathwayMolecular therapyImportant insightsEmbryological originCommon brain tumorMolecular subgroupsGeneticsTumorigenesisMechanismProgression
2014
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations
Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Günel M. Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations. Journal Of Hepatology 2014, 61: 1178-1183. PMID: 25016225, DOI: 10.1016/j.jhep.2014.07.003.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceATP Binding Cassette Transporter, Subfamily B, Member 11ATP-Binding Cassette TransportersBase SequenceBeta CateninCarcinoma, HepatocellularCholestasis, IntrahepaticDNA, NeoplasmFemaleGerm-Line MutationHumansInfantLiver NeoplasmsMolecular Sequence DataMutationMutation, MissenseNF-E2-Related Factor 2Sequence Homology, Amino AcidConceptsBile salt export pumpWhole-exome sequencingHepatocellular carcinomaMonths of ageNFE2L2 mutationsABCB11 mutationsSomatic CTNNB1Background liver parenchymaPediatric hepatocellular carcinomaNew onsetSomatic driver mutationsBSEP expressionLiver parenchymaHCC tissuesHepatocellular carcinogenesisWES analysisExport pumpDriver mutationsCTNNB1 mutationsExome sequencingChild's diagnosisClonality analysisGermline DNAPossible genetic basisEarly childhood