2023
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
2011
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 polymorphisms
2010
A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents
Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.Peer-Reviewed Original ResearchConceptsPatatin-like phospholipase 3 geneNonalcoholic fatty liver diseaseFatty liver diseaseG alleleHepatic steatosisLiver diseaseLow leptinObese youthPeripheral glucose disposal rateAdipogenesis/lipogenesisHepatic glucose production ratePNPLA3 G alleleGlucose disposal ratePeripheral insulin resistanceSingle nucleotide polymorphismsSirtuin 1 expressionSubcutaneous fat biopsiesHepatic fat contentAdipocyte cell sizeSubset of subjectsAdipose cell sizeMagnetic resonance imagingAfrican AmericansCommon variantsExpression of PNPLA3
2008
Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis
Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian cancerOvarian cancer riskProgesterone receptor geneCase-control studyOvarian cancerCancer riskSingle nucleotide polymorphismsPGR single-nucleotide polymorphismInvasive epithelial ovarian cancerOvarian cancer case-control studiesEpithelial ovarian cancerUnconditional logistic regressionCancer case-control studyOvarian cancer casesOvarian Cancer Association ConsortiumTwo-sided p valueEndometrioid subtypePROGINS alleleCancer casesBorderline evidencePROGINS variantSubtype analysisSignificant associationT variantCancer