2019
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 2019, 121: 212-220. PMID: 30682568, DOI: 10.1016/j.bone.2019.01.021.Peer-Reviewed Original ResearchAdolescentAdultChildChild, PreschoolChinaFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Association StudiesHumansInfantMaleMiddle AgedMutationPHEX Phosphate Regulating Neutral EndopeptidasePoint MutationRetrospective StudiesSex CharacteristicsYoung Adult
2014
Serum levels of sclerostin, Dickkopf-1, and secreted frizzled-related protein-4 are not changed in individuals with high bone mass causing mutations in LRP5
Simpson CA, Foer D, Lee GS, Bihuniak J, Sun B, Sullivan R, Belsky J, Insogna KL. Serum levels of sclerostin, Dickkopf-1, and secreted frizzled-related protein-4 are not changed in individuals with high bone mass causing mutations in LRP5. Osteoporosis International 2014, 25: 2383-2388. PMID: 24927689, PMCID: PMC4659359, DOI: 10.1007/s00198-014-2767-5.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedBone DensityBone Morphogenetic ProteinsCase-Control StudiesFemaleGenetic MarkersGenotypeHumansIntercellular Signaling Peptides and ProteinsLow Density Lipoprotein Receptor-Related Protein-5MaleMiddle AgedMutationOsteoprotegerinProto-Oncogene ProteinsRANK LigandSex CharacteristicsWnt Signaling PathwayConceptsFrizzled-related protein 4Serum levelsWnt inhibitorsDickkopf-1Normal controlsUnrelated normal controlsHigh bone mass mutationsHigh bone mass syndromeFunction mutationsNormal age-matched controlsProtein 4Cross-sectional studyAge-matched controlsLRP5 resultSkeletal effectsEndogenous Wnt inhibitorsMass syndromeConsented volunteersUnrelated normal individualsDkk-1Different kindredsNormal individualsLRP5 signalingPatientsSclerostin
2013
Measurement of Plasma, Serum, and Platelet Serotonin in Individuals With High Bone Mass and Mutations in LRP5
Lee GS, Simpson C, Sun B, Yao C, Foer D, Sullivan B, Matthes S, Alenina N, Belsky J, Bader M, Insogna KL. Measurement of Plasma, Serum, and Platelet Serotonin in Individuals With High Bone Mass and Mutations in LRP5. Journal Of Bone And Mineral Research 2013, 29: 976-981. PMID: 24038240, PMCID: PMC3935983, DOI: 10.1002/jbmr.2086.Peer-Reviewed Original ResearchConceptsLow-density lipoprotein receptor-related protein 5Age-matched controlsPlatelet-poor plasmaSerum serotonin levelsLRP5 mutationsSerotonin levelsBone massAffected individualsPlatelet pelletLipoprotein receptor-related protein 5Duodenal enterochromaffin cellsLevels of serotoninHigh bone massSecretion of serotoninMeasurement of plasmaSerum levelsEnterochromaffin cellsSubgroup analysisBlood serotoninPlatelet serotoninPossible associationSerotoninPoor plasmaGenetic deletionELISA
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