Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents
Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentApolipoprotein C-IIIBlack or African AmericanChildFatty LiverFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHispanic or LatinoHumansLipaseLipoproteins, VLDLMaleMembrane ProteinsObesityPolymorphism, Single NucleotideRisk FactorsTriglyceridesWhite PeopleConceptsFatty liverObese childrenSingle nucleotide polymorphismsTriglyceride levelsOral glucose tolerance testGlucokinase regulatory proteinGlucose tolerance testHepatic fat accumulationAccumulation of triglyceridesLow-density lipoproteinElevated triglyceridesLarge VLDLTolerance testFat accumulationObese youthGlucokinase regulatory protein geneMagnetic resonancePNPLA3LiverRs1260326African AmericansTriglyceridesLipoproteinChildrenNucleotide polymorphismsFunctional and physical interaction between the mismatch repair and FA-BRCA pathways
Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsCell LineDNA Mismatch RepairDrosophilaFanconi AnemiaFanconi Anemia Complementation Group ProteinsHCT116 CellsHeLa CellsHumansMiceMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProtein BindingSignal TransductionUbiquitin-Protein LigasesConceptsFA cell linesFA-BRCA pathwayInterstrand crosslinksCell linesFanconi anemiaRepair of ICLsDNA interstrand crosslinksMsh2-deficient cellsFANCD2 monoubiquitylationMMR protein MSH2Chromatin localizationChromatin loadingICL repairDrosophila mutantsHuman cell linesEpistatic relationshipFA pathwayMouse cellsFANCD2Foci formationMismatch repairBone marrow failureRadial formationMonoubiquitylationPhysical interaction