2014
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levels
2001
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Bergwitz C, Prochnau A, Mayr B, Kramer F, Rittierodt M, Berten H, Hausamen J, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. Journal Of Inherited Metabolic Disease 2001, 24: 648-656. PMID: 11768584, DOI: 10.1023/a:1012758925617.Peer-Reviewed Original ResearchConceptsCleidocranial dysplasiaPatient's leukocyte DNADelayed tooth eruptionBsmI restriction siteHealthy family membersRUNX2 mutationAberrant amino acidsClavicular dysplasiaPatent fontanelsCore-binding factor a1Haplotype insufficiencyTooth budsTooth eruptionShort statureBone densityLeukocyte DNAIncreased riskGrowth retardationRestriction sitesDistal phalanxNucleotide changesDysplasiaPremature stopFrameshift mutationHealthy members