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
2013
Dietary Acid Load Is Associated With Lower Bone Mineral Density in Men With Low Intake of Dietary Calcium
Mangano KM, Walsh SJ, Kenny AM, Insogna KL, Kerstetter JE. Dietary Acid Load Is Associated With Lower Bone Mineral Density in Men With Low Intake of Dietary Calcium. Journal Of Bone And Mineral Research 2013, 29: 500-506. PMID: 23873776, PMCID: PMC3946957, DOI: 10.1002/jbmr.2053.Peer-Reviewed Original ResearchConceptsPotential renal acid loadNet endogenous acid productionProximal femur bone mineral densityDietary acid loadFemur bone mineral densityBone mineral densityCalcium intakeDietary calciumAcid loadMineral densitySupplemental calciumHigh dietary acid loadNutrition Examination Survey 2005Low bone mineral densityMean bone mineral densityLow calcium intakeRenal acid loadLow dietary calciumEndogenous acid productionBone healthBMD sitesMean ageInverse associationNational HealthLow intake