2024
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
Reichenberger E, O’Brien K, Hatori A, Carpenter T, van de Wetering K, Flaman L, Howe J, Ortiz D, Sabbagh Y, Chen I. ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. JBMR Plus 2024, 8: ziae103. PMID: 39165910, PMCID: PMC11334334, DOI: 10.1093/jbmrpl/ziae103.Peer-Reviewed Original ResearchPlasma PPi levelsCraniometaphyseal dysplasiaEctopic calcificationKnock-in (KI) miceCraniofacial bonesAutosomal dominant craniometaphyseal dysplasiaPPi levelsSkeletal phenotypeForamen magnumIncreased bone massEnzyme replacement therapyGenetic bone disordersMetaphyses of long bonesKnock-inSevere headacheReplacement therapyFacial palsyNeural foraminaNeurological symptomsInhibitor of mineralizationReplicates many featuresMouse modelBone disordersENPP1 activityCraniofacial hyperostosis
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 20Rickets