2018
Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation
Ang K, Rangel E, Yuan Q, Wu D, Carpenter TO, Insogna K. Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation. Bone Reports 2018, 9: 154-158. PMID: 30364642, PMCID: PMC6197702, DOI: 10.1016/j.bonr.2018.09.001.Peer-Reviewed Original ResearchLow bone mineral densityLow bone massBone mineral densityWNT1 mutationsMineral densityMonoallelic mutationsBone massSame heterozygous missense mutationLow-impact fracturesExtra-skeletal manifestationsSevere osteogenesis imperfectaCanonical Wnt-β-catenin pathwayWnt-β-catenin pathwayType 1 collagen genesType 1 collagenHeterozygous missense mutationAdult skeletal homeostasisTraumatic fracturesSevere diseaseBiallelic diseaseIndex caseTherapeutic benefitRelated patientsSkeletal homeostasisSkeletal disease
2014
Increased bone resorption during tenofovir plus lopinavir/ritonavir therapy in Chinese individuals with HIV
Hsieh E, Fraenkel L, Xia W, Hu YY, Han Y, Insogna K, Yin MT, Xie J, Zhu T, Li T. Increased bone resorption during tenofovir plus lopinavir/ritonavir therapy in Chinese individuals with HIV. Osteoporosis International 2014, 26: 1035-1044. PMID: 25224293, PMCID: PMC4334679, DOI: 10.1007/s00198-014-2874-3.Peer-Reviewed Original ResearchConceptsHuman immunodeficiency virusLopinavir/ritonavirBone turnover markersBone resorption marker levelsResorption marker levelsNon-Chinese populationsAntiretroviral therapyTreatment failureImmunodeficiency virusMarker levelsSkeletal metabolismC-terminal cross-linking telopeptideLopinavir/ritonavir therapyTreatment-naïve patientsFirst-line therapyBone resorption markersProcollagen type 1Multi-center trialPlasma samplesChinese individualsN-terminal propeptideType 1 collagenRitonavir therapyTurnover markersResorption markers
2008
The Anabolic Response to Parathyroid Hormone Is Augmented in Rac2 Knockout Mice
Kawano T, Troiano N, Adams DJ, Wu JJ, Sun BH, Insogna K. The Anabolic Response to Parathyroid Hormone Is Augmented in Rac2 Knockout Mice. Endocrinology 2008, 149: 4009-4015. PMID: 18467443, PMCID: PMC2488220, DOI: 10.1210/en.2008-0034.Peer-Reviewed Original ResearchConceptsAnabolic responseType 1 collagenWild-type animalsPTH treatmentKnockout miceResorptive activityAvailable anabolic therapyTotal bone densityAge-matched wild-type animalsSerum aminoterminal propeptideWild-type groupRac2 knockout miceGroups of animalsAnabolic therapyParathyroid hormoneResorptive responseSerum markersOsteoclast numberTherapeutic responseAminoterminal propeptideBone massBone densitySkeletal responseCortical thicknessGenetic absence