2024
Combined Genetic Association and Differed Expression Analysis of UBE2L3 Uncovers a Genetic Regulatory Role of (Immuno)proteasome in IgA Nephropathy
Xu L, Gan T, Li Y, Chen P, Shi S, Liu L, Lv J, Zhang H, Zhou X. Combined Genetic Association and Differed Expression Analysis of UBE2L3 Uncovers a Genetic Regulatory Role of (Immuno)proteasome in IgA Nephropathy. Kidney Diseases 2024, 10: 167-180. PMID: 38835407, PMCID: PMC11149991, DOI: 10.1159/000537987.Peer-Reviewed Original ResearchGd-IgA1IgA nephropathyHealthy controlsProteasome subunitsLevels of Gd-IgA1Genetic associationPeripheral blood mononuclear cellsExpression levelsEnd-stage renal diseaseSusceptibility to IgANBlood mononuclear cellsGd-IgA1 productionImmune cell typesBlood mRNA levelsFollow-up dataGalactose-deficient IgA1Cell typesUbiquitin-proteasome systemProcess of glycosylationPathogenesis of IgANAssociation of variantsDevelopment of IgANHigher proteinuriaLow eGFRHighest expression level
2021
Predominance of genomically defined A lineage of HPV16 over D lineage in Indian patients from eastern India with squamous cell carcinoma of the cervix in association with distinct oncogenic phenotypes
Mandal P, Bhattacharjee B, Sen S, Bhattacharya A, Saha S, Chowdhury R, Mondal N, Chakrabarty B, Chatterjee T, Roy S, Sengupta S. Predominance of genomically defined A lineage of HPV16 over D lineage in Indian patients from eastern India with squamous cell carcinoma of the cervix in association with distinct oncogenic phenotypes. Translational Oncology 2021, 15: 101256. PMID: 34717279, PMCID: PMC8564679, DOI: 10.1016/j.tranon.2021.101256.Peer-Reviewed Original ResearchSquamous cell carcinomaSquamous cell carcinoma casesLineage ACell carcinomaCervical squamous cell carcinomaE7 mRNA expressionHuman papillomavirus type 16Lineage A virusNon-malignant specimensAssociation of variantsDNA copy numberD lineageCytological outcomeHPV16 genomeEpisomal HPV16Sub-lineagesCopy numberIndian patientsA virusType 16Oncogenic phenotypeHPV16LineagesA1 virusesRisk alleles
2020
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels
Carlson JC, Weeks DE, Hawley NL, Sun G, Cheng H, Naseri T, Reupena M, Tuitele J, Deka R, McGarvey ST, Minster RL. Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels. Journal Of Human Genetics 2020, 66: 111-121. PMID: 32759990, PMCID: PMC7785639, DOI: 10.1038/s10038-020-0816-9.Peer-Reviewed Original ResearchMeSH KeywordsAdultApolipoprotein A-IApolipoproteins ECholesterol Ester Transfer ProteinsCholesterol, HDLCholesterol, LDLCohort StudiesFastingFemaleGenetic MarkersGenome-Wide Association StudyHumansLipid MetabolismLipidsMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociSamoaTriglyceridesConceptsGenome-wide association studiesGenetic architectureAssociation studiesGenome-wide significant associationDifferent association signalsUnique population historyPopulation bottlenecksLipid lociPopulation historyAssociation signalsSuggestive associationRab21Current understandingMGAT1Association of variantsReplication cohortLipidsBiological foundationsVariantsLociLow-density lipoproteinInsightsPopulationLipid levelsHigh-density lipoproteinAdult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C
Eckel-Passow J, Drucker K, Kollmeyer T, Kosel M, Decker P, Molinaro A, Rice T, Praska C, Clark L, Caron A, Abyzov A, Batzler A, Song J, Pekmezci M, Hansen H, McCoy L, Bracci P, Wiemels J, Wiencke J, Francis S, Burns T, Giannini C, Lachance D, Wrensch M, Jenkins R. Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C. Neuro-Oncology 2020, 22: 1602-1613. PMID: 32386320, PMCID: PMC7690366, DOI: 10.1093/neuonc/noaa117.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide p-value thresholdGlioma genome-wide association studiesElongation helicase 1Germline variantsChromosome 2Helicase 1Identifies variantsChromosome 7Association studiesChromosome 20Molecular subtypesMutationsGlioma molecular subtypesWild-type gliomasFAM20CDehydrogenase mutationsP-value thresholdPromoter mutationsAssociation of variantsIsocitrate dehydrogenase (IDH) mutationD2HGDHTelomerase reverse transcriptase (TERT) promoter mutationsNew regionsVariants
2017
Association of Variants of Arginine Vasopressin and Arginine Vasopressin Receptor 1A With Severe Acetaminophen Liver Injury
Randesi M, Levran O, da Rosa J, Hankins J, Rule J, Kreek M, Lee W, Group A, Reuben A, Fontana R, Davern T, McGuire B, Stravitz R, Durkalski V, Liou I, Fix O, Schilsky M, Ganger D, Chung R, Koch D, Reddy K, Rossaro L. Association of Variants of Arginine Vasopressin and Arginine Vasopressin Receptor 1A With Severe Acetaminophen Liver Injury. Cellular And Molecular Gastroenterology And Hepatology 2017, 3: 500-505. PMID: 28462386, PMCID: PMC5404026, DOI: 10.1016/j.jcmgh.2017.01.008.Peer-Reviewed Original ResearchLiver injurySingle nucleotide polymorphismsUse disordersDrug use disorder diagnosisTertiary care liver centreStress responsivityAltered stress responsivityLiver failure resultsAcute liver injuryDrug use disordersGenotype frequenciesConcomitant alcohol abuseSubstance use disordersHigh-risk behaviorsHealthy white controlsDrugs of abuseAssociation of variantsLiver centersOpioid useWhite patientsMean ageAcetaminophen toxicityAlcohol abuseStudy subjectsArginine vasopressin
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