2025
Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population
Lin Q, Zhang D, Gruber P, Tam P, Lui V, Wu Z, Hong H, Chien K, Sham P, Tang C. Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population. Human Genetics And Genomics Advances 2025, 6: 100414. PMID: 39921258, PMCID: PMC11910093, DOI: 10.1016/j.xhgg.2025.100414.Peer-Reviewed Original ResearchPediatric Cardiac Genomics ConsortiumProtein-protein interactionsNoncoding variantsCoding de novo variantsNotch signalingPopulation genetic heterogeneityEvidence of genetic contributionEtiology of TOFDysregulated gene expressionNotch signaling pathwayNotch signaling genesDysregulation of Notch signalingChinese populationTetralogy of FallotCyanotic heart defectsCandidate genesOutflow tract morphogenesisGenetic heterogeneitySignaling GenesGenomics ConsortiumBioinformatics analysisGene expressionCo-expressionGenetic contributionSignaling pathway
2017
Genome and transcriptome profiling of fibrolamellar hepatocellular carcinoma demonstrates p53 and IGF2BP1 dysregulation
Sorenson E, Khanin R, Bamboat Z, Cavnar M, Kim T, Sadot E, Zeng S, Greer J, Seifert A, Cohen N, Crawley M, Green B, Klimstra D, DeMatteo R. Genome and transcriptome profiling of fibrolamellar hepatocellular carcinoma demonstrates p53 and IGF2BP1 dysregulation. PLOS ONE 2017, 12: e0176562. PMID: 28486549, PMCID: PMC5423588, DOI: 10.1371/journal.pone.0176562.Peer-Reviewed Original ResearchConceptsRNA-seqFrequencies of genomic amplificationFibrolamellar hepatocellular carcinomaFL-HCCTumor specimensP53 tumor suppressor pathwayRNA-seq analysisTumor suppressor pathwayDysregulated gene expressionHepatocellular carcinomaAbsence of preclinical modelsInsulin-like growth factor 2 mRNA-binding protein 1Transcriptome sequencingGenome amplificationGrowth factor 2 mRNA-binding protein 1Transcriptomic landscapeSuppressor pathwayTranscriptome analysisVariant of HCCGenomic instabilityChromosomal alterationsTranscriptome profilingRB1 pathwayGene expressionRare variantsCoordinating Regulation of Gene Expression in Cardiovascular Disease: Interactions between Chromatin Modifiers and Transcription Factors
Bauer AJ, Martin KA. Coordinating Regulation of Gene Expression in Cardiovascular Disease: Interactions between Chromatin Modifiers and Transcription Factors. Frontiers In Cardiovascular Medicine 2017, 4: 19. PMID: 28428957, PMCID: PMC5382160, DOI: 10.3389/fcvm.2017.00019.Peer-Reviewed Original ResearchChromatin modifiersTranscription factorsGene expressionTranscriptional controlChromatin-modifying proteinsTranscription factor recruitmentDysregulated gene expressionNumerous cell typesChromatin structureFactor recruitmentHistone methylationGene accessibilityTranscriptional interactionsDNA methylationEpigenetic modifiersRegulatory regionsHistone acetylationVascular smooth muscle cellsCell typesSmooth muscle cellsMuscle cellsMethylationNovel therapeuticsExpressionDisease pathogenesis
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