2021
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
Partnership T, Li Z, Wang Z, Lee M, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams S, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe S, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim K, Meah W, Soo H, Chen X, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou E, Mikropoulos D, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur M, Husain R, Perera S, Álvarez L, García M, González-Iglesias H, Cueto A, Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasım B, Astakhov Y, Astakhov S, Akopov E, Giessl A, Mardin C, Hellerbrand C, Bailey J, Igo R, Haines J, Edward D, Heegaard S, Davila S, Tan P, Kang J, Pasquale L, Kruse F, Reis A, Carmichael T, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas A, Coca-Prados M, Foo J, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs J, Pasutto F, Schlötzer-Schrehardt U, Ho Y, Aung T, Tam W, Khor C. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA 2021, 325: 753-764. PMID: 33620406, PMCID: PMC7903258, DOI: 10.1001/jama.2021.0507.Peer-Reviewed Original ResearchConceptsExfoliation syndromeValidation cohortDiscovery cohortAnterior chamberImpair protein functionFirst validation cohortSecond validation cohortSlit-lamp examinationCase-control studyAnterior segment structuresCauses of glaucomaCiliary body tissueSecondary outcomesPrimary outcomeLamp examinationSystemic disordersIrreversible blindnessMAIN OUTCOMEIndependent cohortExfoliation materialProtein-changing variantsSyndromeClinical implicationsCohortStudy participants
2014
The role of vitamin D in reducing cancer risk and progression
Feldman D, Krishnan A, Swami S, Giovannucci E, Feldman B. The role of vitamin D in reducing cancer risk and progression. Nature Reviews Cancer 2014, 14: 342-357. PMID: 24705652, DOI: 10.1038/nrc3691.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D3 1-alpha-HydroxylaseBreast NeoplasmsCalcitriolCholecalciferolColonic NeoplasmsDisease ProgressionEndocrine SystemFemaleHumansMaleNeoplasmsNeoplastic Stem CellsPolymorphism, GeneticPrognosisProstatic NeoplasmsRandomized Controlled Trials as TopicRiskSignal TransductionSteroid HydroxylasesVitamin DVitamin D DeficiencyVitamin D3 24-HydroxylaseConceptsVitamin D receptorReduce cancer riskCancer riskRandomized Controlled TrialsCancer developmentVitamin D3Vitamin DLow levels of circulating 25(OH)DLevels of circulating 25(OH)DAssociated with increased incidence of cancerCancer stem cell biologySingle nucleotide polymorphismsRisk of cancer developmentAnimal models of cancerAssociated with increased incidenceVitamin D deficiencyVitamin D supplementationLevels of calcitriolSteroid hormone calcitriolHuman clinical trialsRetarding cancer developmentModels of cancerStem cell biologyIncidence of cancerDietary vitamin D3
2012
Take Another CYP: Confirming a Novel Mechanism for “Idiopathic” Hypercalcemia
Carpenter TO. Take Another CYP: Confirming a Novel Mechanism for “Idiopathic” Hypercalcemia. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: 768-771. PMID: 22392954, PMCID: PMC3319214, DOI: 10.1210/jc.2012-1110.Peer-Reviewed Original ResearchHypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes
2011
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia. The Journal Of Clinical Endocrinology & Metabolism 2011, 97: e268-e274. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.Peer-Reviewed Original ResearchConceptsIdiopathic infantile hypercalcemiaInfantile hypercalcemiaSingle patientVitamin D 24-hydroxylase geneReplication cohortIntestinal calcium absorptionAcademic medical centerWhole-exome sequencingIIH patientsClinic cohortAdditional patientsDihydroxyvitamin D.Inpatient studyPatient populationCalcium absorptionCYP24A1 geneMedical CenterHypercalcemiaMAIN OUTCOMEAdditional cohortIntestinal absorptionPatientsConsanguineous parentsVivo functional studiesCohort
2009
Chemoprevention of Colorectal Neoplasia by Estrogen: Potential Role of Vitamin D Activity
Protiva P, Cross HS, Hopkins ME, Kállay E, Bises G, Dreyhaupt E, Augenlicht L, Lipkin M, Lesser M, Livote E, Holt PR. Chemoprevention of Colorectal Neoplasia by Estrogen: Potential Role of Vitamin D Activity. Cancer Prevention Research 2009, 2: 43-51. PMID: 19139017, DOI: 10.1158/1940-6207.capr-08-0103.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D3 1-alpha-HydroxylaseChemopreventionColorectal NeoplasmsEstradiolEstrogen Replacement TherapyEstrogensFemaleGene ExpressionGene Expression ProfilingHumansMiddle AgedReceptors, CalcitriolReverse Transcriptase Polymerase Chain ReactionSteroid HydroxylasesVitamin DVitamin D3 24-HydroxylaseConceptsHormone replacement therapyVitamin D activityReplacement therapyPostmenopausal hormone replacement therapyVitamin D receptor pathwayPrimary end pointRectal mucosal biopsiesVitamin D actionExpression of VDRColon cancer incidenceE-cadherinRegulation of VDREstrogen interventionEstrogen-responsive genesPostmenopausal womenPremenopausal levelsVDR pathwayMucosal biopsiesRectal biopsySerum estradiolVitamin DColorectal neoplasiaD activityRectal mucosaCancer incidence
1999
Flavin‐containing monooxygenase isoform 2: Developmental expression in fetal and neonatal rabbit lung
Larsen‐Su S, Krueger S, Yueh M, Lee M, Shehin S, Hines R, Williams D. Flavin‐containing monooxygenase isoform 2: Developmental expression in fetal and neonatal rabbit lung. Journal Of Biochemical And Molecular Toxicology 1999, 13: 187-193. PMID: 10098904, DOI: 10.1002/(sici)1099-0461(1999)13:3/4<187::aid-jbt9>3.0.co;2-6.Peer-Reviewed Original ResearchConceptsEarly developmental appearanceRabbit lungsNeonatal rabbit lungConstitutive cytochrome P450Developmental appearanceNeonatal lungToxic insultsLungMonooxygenase isoformsNumerous xenobioticsForeign chemicalsMonooxygenase functionCytochrome P450Major isoformsTissue-specific fashionDevelopmental expressionMammalian flavinIsoform 2Expression patternsIsoformsFMO2Individual isoformsNeonatesFetuses
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply