2023
X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant
Soto Barros J, Sanchez S, Cabral K, Beggs A, Agrawal P, Genetti C, Brownstein C, Carpenter T. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone 2023, 172: 116763. PMID: 37059315, PMCID: PMC10198939, DOI: 10.1016/j.bone.2023.116763.Peer-Reviewed Original Research3' Untranslated RegionsExonsFamilial Hypophosphatemic RicketsGenetic Diseases, X-LinkedHumansHypophosphatemiaMutationPHEX Phosphate Regulating Neutral Endopeptidase
2015
Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets
Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. Journal Of The American Academy Of Orthopaedic Surgeons 2015, 23: 433-442. PMID: 26040953, DOI: 10.5435/jaaos-d-14-00082.Peer-Reviewed Original ResearchMeSH KeywordsAdultArthroplasty, Replacement, KneeBiomarkersBone Density Conservation AgentsChildErgocalciferolsFamilial Hypophosphatemic RicketsFracture Fixation, InternalHumansInternal FixatorsMutationOsteotomyPHEX Phosphate Regulating Neutral EndopeptidaseTreatment OutcomeConceptsBony deformityProgressive bony deformityCornerstone of treatmentCareful surgical planningOrthopedic surgical proceduresMedical therapyMedical managementSurgical managementGradual correctionSurgical techniqueDeformity correctionSurgical proceduresBone deformitiesHypophosphatemic ricketsMedical treatmentRenal phosphateHypophosphatemiaContemporary medicalBone pathologySuccessful correctionSurgical planningDeformityInheritable disorderTreatmentAdults
2005
Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes
Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-9642. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBlotting, WesternCalciumCaspase 9CaspasesChondrocytesHypophosphatemiaImmunohistochemistryMiceMice, Inbred C57BLMice, KnockoutMitochondriaMutationParathyroid HormonePHEX Phosphate Regulating Neutral EndopeptidasePhosphatesProteinsRicketsVitamin DConceptsParathyroid hormone levelsMineral ion homeostasisRachitic changesHormone levelsAbnormal mineral ion homeostasisDihydroxyvitamin D levelsVitamin D deficiencyDegree of hypophosphatemiaHypertrophic chondrocyte layerVitamin D receptorHypertrophic chondrocytesNormal phosphorus levelsGrowth plate maturationD deficiencyD levelsNormal calciumD receptorChondrocyte layerHypophosphatemiaVDR actionChondrocyte apoptosisNull miceRicketsCaspase-mediated apoptosisHypercalcemia
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity