2023
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Thompson M, Li X, Spencer-Manzon M, Andrade D, Murakami Y, Kinoshita T, Carpenter T. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). Genes 2023, 14: 359. PMID: 36833286, PMCID: PMC9957281, DOI: 10.3390/genes14020359.Peer-Reviewed Original ResearchConceptsDigenic inheritanceDeficient CHO cell lineCell linesGPI deficiency disordersDeficient cell linesCHO cell linesBiosynthesis genesGPI attachmentMabry syndromeProtein geneStrong promoterCHO cellsUnknown significanceGenesInheritanceGene variantsAutosomal recessive inheritanceHomozygous variantNeurologic deficitsVariantsCase reportRecessive inheritanceSyndrome patientsCD55 expressionPGAP2
2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype
Choksi I, Cox A, Robinson C, Bale A, Carpenter T. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. Osteoporosis International 2021, 32: 1239-1244. PMID: 33624138, DOI: 10.1007/s00198-021-05838-1.Peer-Reviewed Original ResearchConceptsVertebral compression fracturesNovel homozygous variantOsteogenesis imperfectaMultiple vertebral compression fracturesZ-scoreHomozygous variantBilateral tibial fracturesLumbar spine BMDTotal hip BMDEffectiveness of bisphosphonatesFemoral neck BMDHeight z-scoreHomozygous missense variantBroad phenotypic spectrumBisphosphonate therapyBP therapySpinal osteopeniaSymptomatic reliefClinical presentationRecurrent fracturesSpine BMDTibial fracturesCompression fracturesHip BMDNeck BMD
2009
Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*
Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*. Journal Of Biological Chemistry 2009, 285: 2834-2846. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.m109.030577.Peer-Reviewed Original ResearchAbsorptiometry, PhotonAnimalsCell NucleusFibroblast Growth Factor 2Fibroblast Growth Factor-23Fibroblast Growth FactorsGlucuronidaseHomeostasisHumansHypophosphatemiaIsomerismKidneyKlotho ProteinsMaleMiceMice, TransgenicMolecular WeightOsteoblastsOsteomalaciaPhenotypePhosphatesPromoter Regions, GeneticSkullSodium-Phosphate Cotransporter Proteins, Type IIaX-Ray MicrotomographySurvey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity