2021
Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance
Schumann T, König J, von Loeffelholz C, Vatner DF, Zhang D, Perry RJ, Bernier M, Chami J, Henke C, Kurzbach A, El-Agroudy NN, Willmes DM, Pesta D, de Cabo R, O´Sullivan J, Simon E, Shulman GI, Hamilton BS, Birkenfeld AL. Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance. Communications Biology 2021, 4: 826. PMID: 34211098, PMCID: PMC8249653, DOI: 10.1038/s42003-021-02279-8.Peer-Reviewed Original ResearchMeSH KeywordsAMP-Activated Protein KinasesAnimalsDiabetes Mellitus, Type 2Diet, High-FatGene ExpressionGenetic Predisposition to DiseaseHumansInsulin ResistanceLipid MetabolismLiverMice, Inbred C57BLMice, KnockoutMitochondriaMonocarboxylic Acid TransportersNon-alcoholic Fatty Liver DiseaseObesityOxygen ConsumptionConceptsMitochondrial respirationGenome-wide association studiesNovel susceptibility genesLipid accumulationPlasma membraneAMPK activationAssociation studiesPhysiological functionsEctopic lipid accumulationReduced hepatic lipid accumulationSusceptibility genesLactate transporterMonocarboxylate transportersPotential targetGenesTransportersDeletionLipid contentHepatic lipid accumulationPotential importanceKnockout miceRespirationHepatic insulin sensitivityMCT13AccumulationMulti-omics analysis to identify susceptibility genes for colorectal cancer
Yuan Y, Bao J, Chen Z, Villanueva A, Wen W, Wang F, Zhao D, Fu X, Cai Q, Long J, Shu X, Zheng D, Moreno V, Zheng W, Lin W, Guo X. Multi-omics analysis to identify susceptibility genes for colorectal cancer. Human Molecular Genetics 2021, 30: 321-330. PMID: 33481017, PMCID: PMC8485221, DOI: 10.1093/hmg/ddab021.Peer-Reviewed Original ResearchMeSH KeywordsCarcinogenesisCell Line, TumorCell ProliferationColorectal NeoplasmsDNA MethylationGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseGenomeGenome-Wide Association StudyHumansNerve Tissue ProteinsPolymorphism, Single NucleotideRepressor ProteinsRisk FactorsTranscriptomeConceptsGenome-wide association studiesMulti-omics analysisSusceptibility genesTarget genesPutative target genesGWAS-identified variantsMost genetic variantsDNA methylation dataNovel susceptibility genesGenotype-Tissue ExpressionGenetic risk lociPutative susceptibility genesGene regulationIntergenic regionPathogenic dysregulationCancer Genome AtlasEpithelial-mesenchymal transitionRisk lociGene expressionMethylation dataAssociation studiesGenesCell behaviorGenetic variantsGenome Atlas
2020
Genetic underpinnings of cerebral edema in acute brain injury: an opportunity for pathway discovery
Kirsch E, Szejko N, Falcone GJ. Genetic underpinnings of cerebral edema in acute brain injury: an opportunity for pathway discovery. Neuroscience Letters 2020, 730: 135046. PMID: 32464484, PMCID: PMC7372633, DOI: 10.1016/j.neulet.2020.135046.Peer-Reviewed Original ResearchConceptsAcute brain injuryCerebral edemaBrain injuryEdema formationIntracerebral hemorrhageWorse outcomesBlood-brain barrier disruptionSecondary brain injuryBrain edema formationTraumatic brain injuryApolipoprotein E geneSecondary injuryBarrier disruptionVasogenic edemaCytotoxic edemaInflammatory processUseful intermediate phenotypeEdemaTherapeutic targetAquaporin-4Haptoglobin geneInjuryHp 2Novel susceptibility genesNon-white populations
2012
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
Griswold A, Ma D, Cukier H, Nations L, Schmidt M, Chung R, Jaworski J, Salyakina D, Konidari I, Whitehead P, Wright H, Abramson R, Williams S, Menon R, Martin E, Haines J, Gilbert J, Cuccaro M, Pericak-Vance M. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics 2012, 21: 3513-3523. PMID: 22543975, PMCID: PMC3392110, DOI: 10.1093/hmg/dds164.Peer-Reviewed Original ResearchConceptsCandidate genesGABA receptor-associated proteinNumber variationsNew candidate genesNovel candidate genesNovel susceptibility genesNeural development pathwaysReceptor-associated proteinCopy number variationsModel vertebrateASD heritabilityTranscription factorsLoci contributeMore genesNovel etiological mechanismsCNV regionsGenetic lociSNP arrayNotch ligandsAllosteric bindersGenesCase-control data setsSusceptibility genesNovel regionSize of deletions
2008
Common Familial Colorectal Cancer Linked to Chromosome 7q31: A Genome-Wide Analysis
Neklason D, Kerber R, Nilson D, Anton-Culver H, Schwartz A, Griffin C, Lowery J, Schildkraut J, Evans J, Tomlinson G, Strong L, Miller A, Stopfer J, Finkelstein D, Nadkarni P, Kasten C, Mineau G, Burt R. Common Familial Colorectal Cancer Linked to Chromosome 7q31: A Genome-Wide Analysis. Cancer Research 2008, 68: 8993-8997. PMID: 18974144, PMCID: PMC2927856, DOI: 10.1158/0008-5472.can-08-1376.Peer-Reviewed Original ResearchConceptsGenetic regionsLinkage analysisGenome-wide analysisFamilial cancer genesNovel susceptibility genesNonparametric linkage analysisShort tandem repeat markersCommon Familial Colorectal CancerFine mappingRepeat markersTandem repeat markersCancer genesChromosome 7q31Odds (LOD) scoreGenesSusceptibility genesSignificant linkagePenetrant genesDNA samplesFamilial colorectal cancerRelative pairsLociCancer onsetColorectal cancer onsetCancer syndromes
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