2023
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1)
Sangadala S, Shore E, Xu M, Bergwitz C, Lozano‐Calderon S, Lin A, Boden S, Kaplan F. Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1). American Journal Of Medical Genetics Part A 2023, 191: 2164-2174. PMID: 37218523, DOI: 10.1002/ajmg.a.63304.Peer-Reviewed Original ResearchConceptsLIM mineralization protein-1Bone morphogenetic protein (BMP) pathwayGermline variantsBone morphogenetic proteinRecombinant BMP-2LMP-1Gene-disease relationshipsC2C12 cellsGenetic analysisIntracellular proteinsWT proteinHeterotopic ossificationProtein pathwayOsteoblast markersWT cellsBMP-2Protein 1Coding variantsGene-diseaseProtein levelsControl cellsPathogenic variantsLMP-1 variantsCo-transfectionMC3T3 cells
2008
A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3
Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K. A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3. Endocrine Practice 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.Peer-Reviewed Original ResearchConceptsSLC34A3 geneClinical presentationNovel mutationsHistory of flank painMissense mutationsPatient's unusual clinical presentationUnusual clinical presentationPatient's clinical courseAtypical clinical presentationHereditary hypophosphatemic ricketsTreated with calcitriolRecurrent kidney stonesDisorder associated with mutationsGenomic DNA samplesStress fracturesSLC34A3 mutationsFlank painRecurrent nephrolithiasisInsufficiency fracturesClinical courseClinical improvementNaPi-IIcHypophosphatemic ricketsCompound heterozygotesGenetic analysis