Featured Publications
Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis
Kato H, Ansh AJ, Lester ER, Kinoshita Y, Hidaka N, Hoshino Y, Koga M, Taniguchi Y, Uchida T, Yamaguchi H, Niida Y, Nakazato M, Nangaku M, Makita N, Takamura T, Saito T, Braddock DT, Ito N. Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis. Journal Of Bone And Mineral Research 2020, 37: 1125-1135. PMID: 35340077, PMCID: PMC9177665, DOI: 10.1002/jbmr.4550.Peer-Reviewed Original ResearchConceptsAutosomal recessive hypophosphatemic rickets type 2Diffuse idiopathic skeletal hyperostosisEarly-onset osteoporosisENPP1 variantsHypophosphatemic ricketsENPP1 mutationsFibroblast growth factor 23Case 1Growth factor 23Serum phosphate levelsIdiopathic skeletal hyperostosisPosterior longitudinal ligamentCase 3Spinal ligament ossificationFactor 23Skeletal hyperostosisArterial calcificationLongitudinal ligamentPresumptive diagnosisLigament ossificationSevere ossificationMutational statusType 2Pathogenic lossGenetic testing
2024
Impact of mutation type on ectopic ossification among adult patients with X-linked hypophosphatemia
Kato H, Ishihara Y, Ohata Y, Irie K, Watanabe S, Kimura S, Hoshino Y, Hidaka N, Kinoshita Y, Taniguchi Y, Kobayashi H, Braddock D, Kubota T, Ozono K, Nangaku M, Makita N, Ito N. Impact of mutation type on ectopic ossification among adult patients with X-linked hypophosphatemia. Journal Of The Endocrine Society 2024, bvae184. DOI: 10.1210/jendso/bvae184.Peer-Reviewed Original ResearchX-linked hypophosphatemiaNonsense-mediated decayEctopic ossificationPathogenic variantsSpinal computed tomography scansMutation typeInhibitor of tissue calcificationComputed tomography scanSpinal ligament ossificationGenotype-phenotype correlationKellgren-Lawrence classificationNon-consanguineous familyPHEX mutationsPHEX variantAdult patientsTomography scanLigament ossificationFibroblast growth factorYellow ligamentOS indexKellgren-LawrenceStudy populationTissue calcificationPatientsProtein function
2023
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments
Kato H, Braddock D, Ito N. Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments. Current Osteoporosis Reports 2023, 21: 552-566. PMID: 37530996, PMCID: PMC10543536, DOI: 10.1007/s11914-023-00814-6.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDiffuse idiopathic skeletal hyperostosisAutosomal recessive hypophosphatemic rickets type 2Idiopathic skeletal hyperostosisSkeletal hyperostosisOPLL patientsGenetic factorsPathogenic variantsFibroblast growth factor 23Growth factor 23Posterior longitudinal ligamentSpinal ligament ossificationRecent FindingsRecent studiesStrong genetic factorImportant new biomarkerDisease courseFactor 23Longitudinal ligamentClinical evaluationPlasma biomarkersClinical trialsLigament ossificationPlasma PPiCalcification disordersPatientsEctopic calcification