2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Majmundar A, Widmeier E, Heneghan J, Daga A, Wu C, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun D, Jobst-Schwan T, Lawson J, Zahoor M, Rodig N, Tasic V, Nelson C, Khaliq S, Schönauer R, Halbritter J, Sayer J, Fathy H, Baum M, Shril S, Mane S, Alper S, Hildebrandt F. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics In Medicine 2022, 25: 100351. PMID: 36571463, PMCID: PMC9992313, DOI: 10.1016/j.gim.2022.11.019.Peer-Reviewed Original ResearchMeSH KeywordsCalcium OxalateHumansMutation, MissenseNephrolithiasisReceptors, Purinergic P2Sulfate TransportersConceptsExome sequencingChronic kidney diseaseStrong amino acid conservationSignificant patient morbidityCalcium oxalate nephrolithiasisMissense variantsAutosomal dominant inheritance patternTransepithelial calcium transportAmino acid conservationCandidate disease genesDominant inheritance patternCausative genetic variantsKidney diseasePatient morbidityExome Aggregation ConsortiumNC cohortRisk factorsOxalate nephrolithiasisDistal nephronNephrocalcinosisNephrolithiasisLoss of functionChloride-bicarbonate exchangerReceptor 1Genomic approachesDominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
Cornière N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. Journal Of Medical Genetics 2022, 59: 1035-1043. PMID: 35115415, PMCID: PMC9346097, DOI: 10.1136/jmedgenet-2021-108256.Peer-Reviewed Original ResearchMeSH KeywordsAntiportersCalciumCalcium OxalateHumansHyperoxaluriaMutationNephrolithiasisOxalatesSulfate TransportersConceptsRare heterozygous missense mutationsWild-type proteinStrong dominant-negative effectDominant negative effectDominant negative mutationMembrane surface expressionOxalate transporter SLC26A6Calcium oxalate nephrolithiasisCotransfection studiesOxalate transporterSilico analysisNegative mutationTransport activityMissense mutationsHeterozygous missense mutationEnteric hyperoxaluriaComplex multifactorial diseaseMutationsOxalate nephrolithiasisHuman populationSurface expressionCell culturesUrinary oxalate excretionMajor risk factorGenetic factors
2021
Excretion of urine extracellular vesicles bearing markers of activated immune cells and calcium/phosphorus physiology differ between calcium kidney stone formers and non-stone formers
Zhang J, Kumar S, Jayachandran M, Herrera Hernandez L, Wang S, Wilson E, Lieske J. Excretion of urine extracellular vesicles bearing markers of activated immune cells and calcium/phosphorus physiology differ between calcium kidney stone formers and non-stone formers. BMC Nephrology 2021, 22: 204. PMID: 34074247, PMCID: PMC8170929, DOI: 10.1186/s12882-021-02417-8.Peer-Reviewed Original ResearchConceptsNon-stone formersCalcium oxalate stone formersUrinary extracellular vesiclesStone formersExtracellular vesiclesKidney stone formersUrinary stone diseaseStone removal surgeryDifferent nephron segmentsImmune cellsStone diseasePathogenic mechanismsRemoval surgeryNephron segmentsUrine samplesPhosphorus physiologyProtein markersPrevious studiesSurgeryPhysiologyExcretionDiseaseHuman kidney stones: a natural record of universal biomineralization
Sivaguru M, Saw J, Wilson E, Lieske J, Krambeck A, Williams J, Romero M, Fouke K, Curtis M, Kear-Scott J, Chia N, Fouke B. Human kidney stones: a natural record of universal biomineralization. Nature Reviews Urology 2021, 18: 404-432. PMID: 34031587, DOI: 10.1038/s41585-021-00469-x.Peer-Reviewed Original ResearchConceptsHot spring depositsCalcium-rich mineralsFields of geologyFundamental natural processesBillions of yearsDisequilibrium precipitationParagenetic sequenceConcentric zoningDeep subsurfaceNatural recordsSector zoneRoman aqueductCoral reefsNatural processesBroad length scalesCrystal aggregatesIndividual stonesHydroxyapatite spherulesThermodynamic energeticsOrders of magnitudeNew transdisciplinary approachDissolutionTotal volumeRecrystallizationStratigraphyIn Vivo Entombment of Bacteria and Fungi during Calcium Oxalate, Brushite, and Struvite Urolithiasis.
Saw J, Sivaguru M, Wilson E, Dong Y, Sanford R, Fields C, Cregger M, Merkel A, Bruce W, Weber J, Lieske J, Krambeck A, Rivera M, Large T, Lange D, Bhattacharjee A, Romero M, Chia N, Fouke B. In Vivo Entombment of Bacteria and Fungi during Calcium Oxalate, Brushite, and Struvite Urolithiasis. Kidney360 2021, 2: 298-311. PMID: 35373025, PMCID: PMC8740987, DOI: 10.34067/kid.0006942020.Peer-Reviewed Original Research
2016
Loss of Cystic Fibrosis Transmembrane Regulator Impairs Intestinal Oxalate Secretion
Knauf F, Thomson RB, Heneghan JF, Jiang Z, Adebamiro A, Thomson CL, Barone C, Asplin JR, Egan ME, Alper SL, Aronson PS. Loss of Cystic Fibrosis Transmembrane Regulator Impairs Intestinal Oxalate Secretion. Journal Of The American Society Of Nephrology 2016, 28: 242-249. PMID: 27313231, PMCID: PMC5198290, DOI: 10.1681/asn.2016030279.Peer-Reviewed Original ResearchConceptsIntestinal oxalate secretionWild-type miceCystic fibrosisIntestinal tissueOxalate secretionIncidence of hyperoxaluriaCalcium oxalate stone formationNet intestinal absorptionOxalate stone formationCoexpression of CFTRIntestinal transport processesWestern blot analysisOxalate absorptionMouse modelIntestinal absorptionGlucose absorptionUssing chambersStone formationFibrosisMiceSecretionReduced expressionCystic fibrosis transmembrane conductance regulator (CFTR) geneHyperoxaluriaPatients
2011
Cholinergic signaling inhibits oxalate transport by human intestinal T84 cells
Hassan HA, Cheng M, Aronson PS. Cholinergic signaling inhibits oxalate transport by human intestinal T84 cells. American Journal Of Physiology - Cell Physiology 2011, 302: c46-c58. PMID: 21956166, PMCID: PMC3328906, DOI: 10.1152/ajpcell.00075.2011.Peer-Reviewed Original ResearchConceptsC-SrcT84 cellsHuman intestinal cell line T84PKC-δ inhibitor rottlerinSrc inhibitor PP2Intestinal cell line T84Human intestinal T84 cellsSurface expressionMuscarinic receptorsRegulation downstreamInhibitor PP2Phosphorylation studiesBiotinylation studiesInhibitor rottlerinKnockdown studiesPharmacological inhibitorsIntestinal T84 cellsIntestinal oxalate secretionPhospholipase CIntestinal ion transportPKC activationSignificant translocationCalcium oxalate urolithiasisPKCAnion exchanger SLC26A6Drosophila: a fruitful model for calcium oxalate nephrolithiasis?
Knauf F, Preisig PA. Drosophila: a fruitful model for calcium oxalate nephrolithiasis? Kidney International 2011, 80: 327-329. PMID: 21799502, DOI: 10.1038/ki.2011.166.Peer-Reviewed Original Research
2008
Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis
Monico CG, Weinstein A, Jiang Z, Rohlinger AL, Cogal AG, Bjornson BB, Olson JB, Bergstralh EJ, Milliner DS, Aronson PS. Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis. American Journal Of Kidney Diseases 2008, 52: 1096-1103. PMID: 18951670, PMCID: PMC2710965, DOI: 10.1053/j.ajkd.2008.07.041.Peer-Reviewed Original ResearchConceptsPrimary hyperoxaluria type 1Oxalate transportMajor risk factorCalcium oxalate nephrolithiasisUrine oxalate levelsCalcium oxalate urolithiasisRare variantsHyperoxaluria type 1Calcium oxalate stonesAdditional missense variantsUrine oxalateOxalate excretionRisk factorsOxalate nephrolithiasisOxalate urolithiasisHyperoxaluriaAbstractTextAdult subjectsType 1Oxalate stonesPotential modifiersStudy designOxalate levelsGood healthMissense variants
2006
Essential roles of CFEX-mediated Cl−–oxalate exchange in proximal tubule NaCl transport and prevention of urolithiasis
Aronson PS. Essential roles of CFEX-mediated Cl−–oxalate exchange in proximal tubule NaCl transport and prevention of urolithiasis. Kidney International 2006, 70: 1207-1213. PMID: 16883319, DOI: 10.1038/sj.ki.5001741.Commentaries, Editorials and LettersAnimalsAntiportersCalcium OxalateChloride-Bicarbonate AntiportersChloridesDisease Models, AnimalFormatesHomeostasisHumansHyperoxaluriaImmunohistochemistryIntestinal AbsorptionIon ExchangeKidney Tubules, ProximalMiceMice, KnockoutModels, BiologicalNephrolithiasisOocytesOxalatesSodium ChlorideSulfate TransportersXenopusCalcium oxalate urolithiasis in mice lacking anion transporter Slc26a6
Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nature Genetics 2006, 38: 474-478. PMID: 16532010, DOI: 10.1038/ng1762.Peer-Reviewed Original ResearchConceptsCalcium oxalate urolithiasisOxalate urolithiasisPlasma oxalate concentrationIntestinal oxalate secretionUrinary oxalate concentrationCommon urologic diseaseNet intestinal absorptionAnion exchanger SLC26A6Dietary oxalate restrictionSlc26a6-null miceSignificant hyperoxaluriaOxalate restrictionUrologic diseasesHigh incidenceIntestinal absorptionExchanger SLC26A6Mutant miceUrolithiasisMiceMajor constitutive roleNet absorptionOxalate secretionHyperoxaluriaOxalate concentrationEpithelial tissues
1994
Dietary hypercalciuria in patients with calcium oxalate kidney stones
Burtis W, Gay L, Insogna K, Ellison A, Broadus A. Dietary hypercalciuria in patients with calcium oxalate kidney stones. American Journal Of Clinical Nutrition 1994, 60: 424-429. PMID: 8074077, DOI: 10.1093/ajcn/60.3.424.Peer-Reviewed Original ResearchConceptsCalcium excretionFree dietDietary hypercalciuriaKidney stonesUrinary calcium excretionHigh sodium intakeCalcium oxalate stonesHypercalciuric patientsSodium excretionUnselected patientsDietary sodiumSodium intakeDietary calciumDietary factorsDietary habitsPatientsHypercalciuriaExcretionOxalate stonesDietary proteinDietMultiple regression analysisCalciumStonesIntake
1989
Trichlormethiazide and Oral Phosphate Therapy in Patients with Absorptive Hypercalciuria
Insogna K, Ellison A, Burtis W, Sartori L, Lang R, Broadus A. Trichlormethiazide and Oral Phosphate Therapy in Patients with Absorptive Hypercalciuria. Journal Of Urology 1989, 141: 269-273. PMID: 2913343, DOI: 10.1016/s0022-5347(17)40737-3.Peer-Reviewed Original ResearchConceptsOral phosphate therapyDihydroxyvitamin D levelsAbsorptive hypercalciuriaUrinary calciumParathyroid functionPhosphate therapyPhosphate administrationD levelsOral phosphate administrationRenal phosphate thresholdTreatment urinary calciumStudy 36 patientsPre-treatment valuesTrichlormethiazide treatmentCalcium excretionDihydroxyvitamin DBiochemical abnormalitiesSecond drugPharmacological meansStudy subjectsHypercalciuriaPatientsTherapyPer cent decreaseTreatment
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