2024
Genomic Determinants of Clinical Outcomes in Multiple Myeloma with t(11;14)(CCND1;IGH) Treated with Venetoclax
Kaddoura M, Wiedmeier-Nutor J, Gupta V, Ziccheddu B, Shivaram S, Tang H, Fonseca R, Durante M, Matulis S, Jelinek T, Landgren O, Mitsiades C, Bergsagel P, Braggio E, Boise L, Fonseca R, Kumar S, Maura F, Baughn L. Genomic Determinants of Clinical Outcomes in Multiple Myeloma with t(11;14)(CCND1;IGH) Treated with Venetoclax. Blood 2024, 144: 249. DOI: 10.1182/blood-2024-204071.Peer-Reviewed Original ResearchProgression free survivalSingle nucleotide variantsWhole-genome sequencingMultiple myelomaMM patientsFocal deletionsCopy number variantsMechanisms of resistanceTraining cohortValidation cohortChronic lymphocytic leukemia treated with venetoclaxDisease progressionMAPK pathwayMedian progression free survivalPopulation of MM patientsDeterminants of clinical outcomeAnti-CD38 agentsTreated with venetoclaxComprehensive genomic profilingMAPK pathway mutationsStructural variantsAcute myeloid leukemiaGenomic eventsLoss of NoxaNovel drug combinationsCentral neurocytoma exhibits radial glial cell signatures with FGFR3 hypomethylation and overexpression
Lee Y, Chowdhury T, Kim S, Yu H, Kim K, Kang H, Kim M, Kim J, Kim Y, Ji S, Hwang K, Han J, Hwang J, Yoo S, Lee K, Choe G, Won J, Park S, Lee Y, Shin J, Park C, Kim C, Kim J. Central neurocytoma exhibits radial glial cell signatures with FGFR3 hypomethylation and overexpression. Experimental & Molecular Medicine 2024, 56: 975-986. PMID: 38609519, PMCID: PMC11059271, DOI: 10.1038/s12276-024-01204-3.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNeuronal development pathwaysDrivers of tumorigenesisGlial cell differentiationMethylation sequencingGenomic eventsPI3K-Akt activationDownstream eventsGene markersMultiomics approachCell differentiationRadial glial cellsHypomethylationOverexpressionSequenceTumorigenesisFGFR3Cell signaturesGlial cellsPotential roleCellsTumor cellsCentral nervous systemMultiomicsOntogeny
2023
Unified views on variant impact across many diseases
Kumar S, Gerstein M. Unified views on variant impact across many diseases. Trends In Genetics 2023, 39: 442-450. PMID: 36858880, PMCID: PMC10192142, DOI: 10.1016/j.tig.2023.02.002.Peer-Reviewed Original Research
2018
Genomic analysis of synchronous intracranial meningiomas with different histological grades
Chowdhury T, Yoo Y, Seo Y, Dho Y, Kim S, Choi A, Choi M, Park S, Park C, Lee S, Lee J. Genomic analysis of synchronous intracranial meningiomas with different histological grades. Journal Of Neuro-Oncology 2018, 138: 41-48. PMID: 29423538, DOI: 10.1007/s11060-018-2772-1.Peer-Reviewed Original ResearchConceptsDifferent histological gradesWhole-exome sequencingHistological gradeDistinct gene expression profilesRNA-seq analysisRNA sequencing analysisSynchronous meningiomaGene expression profilesYear old female patientGenomic analysisCommon primary tumorExpression profilesGenomic eventsGenomic evaluationMechanisms of progressionSubsequent mutationsHigh gradeCentral nervous system
1999
Rapid Effects of Aldosterone on Sodium-Hydrogen Exchange in Isolated Colonic Crypts
Winter D, Schneider M, O'Sullivan G, Harvey B, Geibel J. Rapid Effects of Aldosterone on Sodium-Hydrogen Exchange in Isolated Colonic Crypts. The Journal Of Membrane Biology 1999, 170: 17-26. PMID: 10398757, DOI: 10.1007/s002329900534.Peer-Reviewed Original ResearchMeSH KeywordsAldosteroneAmilorideAnimalsArachidonic AcidBicarbonatesColonDiureticsExtracellular SpaceFluoresceinsFluorescent DyesHydrogen-Ion ConcentrationIon ExchangeIon TransportLeukotriene AntagonistsMaleMineralocorticoid Receptor AntagonistsPhospholipasesProstaglandin AntagonistsProtein BiosynthesisProtein Kinase InhibitorsProtein KinasesProtein Synthesis InhibitorsRatsRats, Sprague-DawleySodiumSodium-Hydrogen ExchangersSpironolactoneTranscription, GeneticConceptsProtein synthesisRapid cellular responsesSignal transduction pathwaysProtein kinase CSodium-hydrogen exchangeTransduction pathwaysColonic cryptsGenomic eventsCellular responsesKinase CG proteinsIsolated colonic cryptsConfocal laser imagingIntracellular receptorsTransepithelial electrolyte transportEpithelial ion transportNonepithelial tissuesHomeostatic regulationAldosterone applicationTraditional receptorsCentral roleIntracellular alkalizationIon transportReal-time imagingSteroid action
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