2017
Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis
Foer D, Zhu M, Cardone RL, Simpson C, Sullivan R, Nemiroff S, Lee G, Kibbey RG, Petersen KF, Insogna KL. Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis. Osteoporosis International 2017, 28: 2011-2017. PMID: 28283687, PMCID: PMC6693506, DOI: 10.1007/s00198-017-3977-4.Peer-Reviewed Original ResearchMeSH KeywordsAgedBlood GlucoseCase-Control StudiesCholesterol, LDLFemaleGain of Function MutationGlucose Tolerance TestGlycated HemoglobinHomeostasisHumansIslets of LangerhansLipid MetabolismLow Density Lipoprotein Receptor-Related Protein-5MaleMiddle AgedTissue Culture TechniquesWnt Signaling PathwayConceptsLow-density lipoprotein receptor-related protein 5Insulin sensitivity indexType 2 diabetesInsulin secretionLRP5 mutationsLipid metabolismSerum LDLInsulin sensitivityLipid homeostasisGlucose metabolismAnimal modelsMean insulin sensitivity indexFunction mutationsHigh bone mass phenotypeLipoprotein receptor-related protein 5Augment insulin secretionGlucose-stimulated insulin secretionCoronary artery diseaseMajor risk factorCase-control studyImpaired insulin sensitivityHepatic lipid contentBone mass phenotypeProton magnetic resonance spectroscopyAcademic medical center
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
2011
Calcitonin Administration in X-Linked Hypophosphatemia
Liu ES, Carpenter TO, Gundberg CM, Simpson CA, Insogna KL. Calcitonin Administration in X-Linked Hypophosphatemia. New England Journal Of Medicine 2011, 364: 1678-1680. PMID: 21524226, PMCID: PMC3162370, DOI: 10.1056/nejmc1010928.Peer-Reviewed Original Research
2002
High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5. New England Journal Of Medicine 2002, 346: 1513-1521. PMID: 12015390, DOI: 10.1056/nejmoa013444.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersBone DensityCase-Control StudiesChromosomes, Human, Pair 11FemaleGenes, DominantGenotypeHumansIntercellular Signaling Peptides and ProteinsLDL-Receptor Related ProteinsLow Density Lipoprotein Receptor-Related Protein-5MaleMandibleMutation, MissenseOsteogenesisPalatePedigreePoint MutationProteinsProto-Oncogene ProteinsRadiographyReceptors, LDLSignal TransductionSyndromeWnt ProteinsZebrafish ProteinsConceptsLow-density lipoprotein receptor-related protein 5Higher bone densityProtein 5Bone densityDevelopmental proteinsLipoprotein receptor-related protein 5Fruit flyGenetic analysisDeep mandibleWnt activityTorus palatinusWnt pathwayFunction mutationsWntMajor public health problemNormal glycineBiochemical analysisMutationsTreatment of osteoporosisHigh bone massPublic health problemCodon 171Potential targetAutosomal dominant syndromeGenes