2011
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation
Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation. American Journal Of Medical Genetics Part A 2011, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChild, PreschoolFamilial Hypophosphatemic RicketsFemaleHumansHypercalciuriaInfantInfant, NewbornMaleMolecular Sequence DataMutationNephrolithiasisPedigreePolymorphism, Single NucleotidePregnancyRestriction MappingReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSodium-Phosphate Cotransporter Proteins, Type IIcConceptsHereditary hypophosphatemic ricketsHypophosphatemic ricketsElevated 1,25-dihydroxyvitamin DGastrointestinal calcium absorptionHistory of nephrolithiasisIncreased gastrointestinal calcium absorptionPTH levelsRecurrent nephrolithiasisRenal ultrasoundSerum calciumCalcium absorptionNaPi-IIcPatient's motherHypercalciuriaSplicing mutationCompound heterozygosityNephrolithiasisRicketsNovel splice mutationHHRHDihydroxyvitaminPhenotypic changesMutationsMothersSplice mutation
2009
Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis
Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Jüppner H. Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis. The Journal Of Clinical Endocrinology & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnimalsBase SequenceCalcinosisCarrier StateChlorocebus aethiopsCodonCOS CellsDNA PrimersExonsFibroblast Growth Factor-23Fibroblast Growth FactorsGlycosylationHomozygoteHumansHypophosphatemia, FamilialMolecular Sequence DataNeoplasmsPolymorphism, Single NucleotideProlineSerineConceptsExpression vectors encoding wild-typeSerine to prolineHomozygous mutationFraction of lysatesCOS-7 cellsGlycoprotein fractionDefective O-glycosylationMutant hormoneO-glycosylationProtein speciesExon 2Poor secretionCOS-7Western blot analysisGenetic causeCodon 129Hyperphosphatemic tumoral calcinosisMutationsWild-typeFGF23 mutationsAssociated with lackBlot analysisCarriers in vivoFibroblast growth factorLysates
2008
NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone
Bergwitz C, Bastepe M. NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone. New England Journal Of Medicine 2008, 359: 2615-2617. PMID: 19073985, DOI: 10.1056/nejmc086284.Peer-Reviewed Original ResearchA novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones