2020
Paradoxical aortic stiffening and subsequent cardiac dysfunction in Hutchinson–Gilford progeria syndrome
Murtada SI, Kawamura Y, Caulk AW, Ahmadzadeh H, Mikush N, Zimmerman K, Kavanagh D, Weiss D, Latorre M, Zhuang ZW, Shadel GS, Braddock DT, Humphrey JD. Paradoxical aortic stiffening and subsequent cardiac dysfunction in Hutchinson–Gilford progeria syndrome. Journal Of The Royal Society Interface 2020, 17: 20200066. PMID: 32453981, PMCID: PMC7276555, DOI: 10.1098/rsif.2020.0066.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAortaHeart DiseasesMiceMuscle, Smooth, VascularMutationProgeriaPulse Wave AnalysisConceptsHutchinson-Gilford progeria syndromeSubsequent cardiac dysfunctionSmooth muscle functionPulse wave velocityUltra-rare disordersCardiovascular eventsDevastating sequelaeDiastolic dysfunctionSystolic functionCardiac dysfunctionProgeria syndromeVascular functionAortic functionMuscle functionEarly deathMouse modelTherapeutic windowCardiovascular dataBiomechanical phenotypingDysfunctionSyndromeExcessive accumulationBiomechanical functionArterial developmentPressure-related effects
2019
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. Journal Of Bone And Mineral Research 2019, 35: 662-670. PMID: 31826312, PMCID: PMC7771569, DOI: 10.1002/jbmr.3938.Peer-Reviewed Original ResearchConceptsAutosomal recessive hypophosphatemic rickets type 2Biallelic mutationsMonoallelic mutationsPrimary hyperparathyroidismPathogenic variantsCarotid intima-media thicknessClassic disease manifestationsNormocalcemic primary hyperparathyroidismC-terminal FGF23Intima-media thicknessWhole-exome sequencingClinical findingsArterial calcificationPeriarticular calcificationSpectrum of phenotypesIntact FGF23Disease manifestationsBilateral femursENPP1 variantsBone deformitiesBiochemical manifestationsType 2ENPP1 geneExome sequencingHyperparathyroidism
2017
Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice
Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C. Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice. PLOS ONE 2017, 12: e0180098. PMID: 28704395, PMCID: PMC5509111, DOI: 10.1371/journal.pone.0180098.Peer-Reviewed Original ResearchConceptsRenal calcificationCompared to WT miceElevated urinary excretionRenal stone diseaseNucleotide pyrophosphatase phosphodiesterase 1WT miceDietary calciumUrinary excretionIntraperitoneal administrationStone diseaseNull miceMouse mutationMiceCalcificationNephrocalcinosisNpt2aDisordersUnrecognized factorsContribution of genotypePresent studyPhosphodiesterase 1PPINpt2cPatientsNephrolithiasis