2013
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen SH, Ræder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research 2013, 28: 1378-1385. PMID: 23325605, DOI: 10.1002/jbmr.1850.Peer-Reviewed Original ResearchConceptsFibroblast growth factor 23Growth factor 23Factor 23Dental anomaliesExome sequencingAbsence of ricketsFAM20C mutationsCompound heterozygous mutationsWhole-exome sequencingIntracerebral calcificationsFGF23 levelsFamilial hypophosphatemiaHypophosphatemic ricketsEctopic calcificationHypophosphatemiaPutative new mechanismsType 1Heterozygous mutationsUndiagnosed probandsLong bonesNorwegian populationCausal roleHuman subjectsSequence similarity 20RicketsHeart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy
Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy. Endocrine Practice 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/ep12184.cr.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsPhosphate therapyTertiary hyperparathyroidismHeart failureCardiac calcificationSevere calcific coronary artery diseaseCalcific coronary artery diseaseAortic valve replacementCoronary artery calcificationCongestive heart failureCoronary artery diseaseManagement of patientsHeart valve calcificationImplantable cardioverter defibrillatorPathophysiology of calcificationCalcitriol useCardiac complicationsArtery calcificationRenal failureValve replacementArtery diseaseClinical courseAppropriate therapyHeart block
2009
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
2001
Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets
Moltz K, Friedman A, Nehgme R, Kleinman C, Carpenter T. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Current Opinion In Pediatrics 2001, 13: 373-375. PMID: 11717565, DOI: 10.1097/00008480-200108000-00015.Peer-Reviewed Original Research