2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCell ProliferationChromatin Assembly and DisassemblyCiliaDisease Models, AnimalEpigenesis, GeneticGene Expression Regulation, NeoplasticHeartHeart Defects, CongenitalHistonesHumansLoss of Function MutationMiceRegulatory Factor X Transcription FactorsSignal TransductionUbiquitin-Conjugating EnzymesUbiquitin-Protein LigasesUbiquitinationXenopusConceptsHistone H2B monoubiquitinationCilia genesH2B monoubiquitinationCilia motilityFunctional gene ontologyHuman congenital heart diseaseUpstream transcriptional regulatorsTissue-specific expressionChromatin remodeling genesChromatin remodelingEpigenetic controlH2Bub1 levelsTranscriptional regulatorsChIP-seqDepletion phenotypeGene OntologyGenomic analysisTranscription factorsKnockdown resultsLeft-right asymmetryCilia functionHeart developmentH2Bub1RNF20Complex consistingp53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors
Carugo A, Minelli R, Sapio L, Soeung M, Carbone F, Robinson F, Tepper J, Chen Z, Lovisa S, Svelto M, Amin S, Srinivasan S, Del Poggetto E, Loponte S, Puca F, Dey P, Malouf G, Su X, Li L, Lopez-Terrada D, Rakheja D, Lazar A, Netto G, Rao P, Sgambato A, Maitra A, Tripathi D, Walker C, Karam J, Heffernan T, Viale A, Roberts C, Msaouel P, Tannir N, Draetta G, Genovese G. p53 Is a Master Regulator of Proteostasis in SMARCB1-Deficient Malignant Rhabdoid Tumors. Cancer Cell 2019, 35: 204-220.e9. PMID: 30753823, PMCID: PMC7876656, DOI: 10.1016/j.ccell.2019.01.006.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic AgentsAutophagyCell Line, TumorCyclin-Dependent Kinase Inhibitor p16Endoplasmic Reticulum StressFemaleGene Expression Regulation, NeoplasticHumansMaleMice, 129 StrainMice, Inbred C57BLMice, KnockoutProteasome InhibitorsProteostasisProto-Oncogene Proteins c-mycRhabdoid TumorSignal TransductionSMARCB1 ProteinTumor Cells, CulturedTumor Suppressor Protein p53Unfolded Protein ResponseConceptsMalignant rhabdoid tumorRhabdoid tumorUnfolded protein responseClinical pathological featuresAggressive pediatric malignancyCombination of agentsPediatric malignanciesMouse modelP53 axisMosaic mouse modelChromatin remodeling genesER stress responseTumorsHuman oncogenesisBiallelic inactivationMalignancyProtein responseDramatic activationHuman diseasesMaster regulatorExquisite sensitivityAutophagic machineryAgentsDiseaseStress response
2018
GENE-16. CLINICALLY AGGRESSIVE MENINGIOMAS ARE CHARACTERIZED BY MUTATIONAL SIGNATURES ASSOCIATED WITH DEFECTIVE DNA REPAIR AND MUTATIONS IN CHROMATIN REMODELING GENES
Kurz S, Liechty B, Kelly S, Vasudevaraja V, Bledea R, Wu P, Serrano J, Katz L, Silverman J, Pacione D, Golfinos J, Chi A, Snuderl M. GENE-16. CLINICALLY AGGRESSIVE MENINGIOMAS ARE CHARACTERIZED BY MUTATIONAL SIGNATURES ASSOCIATED WITH DEFECTIVE DNA REPAIR AND MUTATIONS IN CHROMATIN REMODELING GENES. Neuro-Oncology 2018, 20: vi106-vi106. PMCID: PMC6216611, DOI: 10.1093/neuonc/noy148.442.Peer-Reviewed Original ResearchSingle nucleotide variantsChromatin remodeling genesCancer-associated genesDefective DNA repairChromatin remodelingAggressive meningiomasMutational signaturesDNA repairIncreased copy number variationDNA methylation array analysisSomatic mutationsRemodeling genesClinically aggressive meningiomasUnfavorable clinical courseAssociated with more aggressive behaviorCopy number variationsPattern of somatic mutationsWhole-exome sequencingMethylation array analysisDNA methylation phenotypeMedian PFSNucleotide variantsAggressive tumorsClinical courseRecurrence rate
2017
Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma
Basturk O, Berger M, Yamaguchi H, Adsay V, Askan G, Bhanot U, Zehir A, Carneiro F, Hong S, Zamboni G, Dikoglu E, Jobanputra V, Wrzeszczynski K, Balci S, Allen P, Ikari N, Takeuchi S, Akagawa H, Kanno A, Shimosegawa T, Morikawa T, Motoi F, Unno M, Higuchi R, Yamamoto M, Shimizu K, Furukawa T, Klimstra D. Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma. Modern Pathology 2017, 30: 1760-1772. PMID: 28776573, DOI: 10.1038/modpathol.2017.60.Peer-Reviewed Original ResearchConceptsGenetic characteristicsIdentification of sequence mutationsIntraductal papillary mucinous neoplasmWhole-genome sequencingIntraductal tubulopapillary neoplasmPapillary mucinous neoplasmWhole-exome sequencingCopy number alterationsNext-generation sequencingPI3K) pathwayChromatin remodeling genesMAP kinase pathwayPhosphatidylinositol 3-kinaseTargeted Next-Generation SequencingLoss of CDKN2AGenomic analysisTubulopapillary neoplasmSequence mutationsMucinous neoplasmsTested genesMutated genesGenesGenetic alterationsMAP kinaseRemodeling genesNext-generation sequencing (NGS) in pancreatic neuroendocrine tumors (panNETs): Defining differentiation and grade genetically.
Raj N, Klimstra D, Shah R, Osoba M, Alexander D, Reidy D. Next-generation sequencing (NGS) in pancreatic neuroendocrine tumors (panNETs): Defining differentiation and grade genetically. Journal Of Clinical Oncology 2017, 35: 291-291. DOI: 10.1200/jco.2017.35.4_suppl.291.Peer-Reviewed Original ResearchChromatin remodeling genesNext-generation sequencingWD tumorsPD tumorsRemodeling genesMSK-IMPACTCopy number changesDetect base substitutionsPancreatic neuroendocrine tumorsWhole-exome sequencingCancer related genesSmall indelsSequencing technologiesBase substitutionsExon coverageTP53 alterationsNeuroendocrine carcinomaExome sequencingNeuroendocrine tumorsRB1 alterationsGenetic basisATRX alterationsTumor differentiationProspective studyChromatin
2016
ARID1A expression in early stage colorectal adenocarcinoma: an exploration of its prognostic significance
Lee L, Sadot E, Ivelja S, Vakiani E, Hechtman J, Sevinsky C, Klimstra D, Ginty F, Shia J. ARID1A expression in early stage colorectal adenocarcinoma: an exploration of its prognostic significance. Human Pathology 2016, 53: 97-104. PMID: 26980037, PMCID: PMC4994515, DOI: 10.1016/j.humpath.2016.02.004.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overBiomarkers, TumorCell DifferentiationColorectal NeoplasmsDisease ProgressionDisease-Free SurvivalDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFemaleHumansImmunohistochemistryKaplan-Meier EstimateMaleMiddle AgedNeoplasm Recurrence, LocalNeoplasm StagingNuclear ProteinsProportional Hazards ModelsRetrospective StudiesTime FactorsTissue Array AnalysisTranscription FactorsTreatment OutcomeYoung AdultConceptsColorectal carcinomaPrognostic significanceARID1A lossARID1A expressionPrognostic value of ARID1AEarly stage CRC patientsRecurrence-free survivalMedian Follow-UpAssociated with female sexStage CRC patientsChromatin remodeling genesLoss of ARID1AHeterogeneous patient populationLymphovascular invasionCurative intentPT stageAdjuvant therapyRetrospective seriesMismatch repair protein deficiencyPrognostic valueTissue microarrayEarly stage CRCPrognostic markerCRC patientsAnalyzed tumors
2014
Immunohistochemical detection of ARID1A in colorectal carcinoma: loss of staining is associated with sporadic microsatellite unstable tumors with medullary histology and high TNM stage
Ye J, Zhou Y, Weiser M, Gönen M, Zhang L, Samdani T, Bacares R, DeLair D, Ivelja S, Vakiani E, Klimstra D, Soslow R, Shia J. Immunohistochemical detection of ARID1A in colorectal carcinoma: loss of staining is associated with sporadic microsatellite unstable tumors with medullary histology and high TNM stage. Human Pathology 2014, 45: 2430-2436. PMID: 25311944, DOI: 10.1016/j.humpath.2014.08.007.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAdultAgedAged, 80 and overCarcinoma, MedullaryColorectal NeoplasmsDNA MethylationDNA Mismatch RepairDNA-Binding ProteinsFemaleHumansImmunohistochemistryMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1Neoplasm StagingNuclear ProteinsPilot ProjectsPromoter Regions, GeneticTranscription FactorsYoung AdultConceptsMicrosatellite unstable colorectal carcinomasLynch syndrome screeningMMR-deficient casesMedullary histologyMismatch repairMMR-deficient tumorsColorectal carcinomaDNA mismatch repairSyndrome screeningOlder agePilot studyAssociationARID1A lossOvarian cancerLoss of stainingIncreased rateConsecutive seriesMicrosatellite unstable tumorsChromatin remodeling genesMLH1Lynch
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply