2020
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSph
2012
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Journal Of Bone And Mineral Research 2012, 27: 1839-1848. PMID: 22692814, DOI: 10.1002/jbmr.1680.Peer-Reviewed Original ResearchConceptsInternational Collaborative Gaucher Group Gaucher RegistryType 1 Gaucher diseaseAvascular osteonecrosisRisk factorsDXA Z-scoresSurrogate markerZ-scoreDisease activityGaucher RegistryOdds ratioGaucher diseaseLow bone mineral densityOverall disease activityStrong risk factorPotential risk factorsBone mineral densityConditional logistic regressionSeverity of involvementNew risk factorsWhite blood cellsCase-control methodYear of birthGBA1 genotypeGD1 patientsRegistry patients
2011
Reducing selection bias in case-control studies from rare disease registries
Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.Peer-Reviewed Original ResearchEvaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Stein P, Yang R, Liu J, Pastores GM, Mistry PK. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. Journal Of Inherited Metabolic Disease 2011, 34: 429-437. PMID: 21290183, PMCID: PMC3186206, DOI: 10.1007/s10545-010-9271-7.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyHigh-density lipoproteinHDL cholesterolDisease severityDisease activitySpleen volumeIndividual patientsLow high-density lipoproteinLow HDL cholesterolSeverity Score IndexMonitoring of patientsGD1 patientsSerum levelsReplacement therapyLiver volumeScore indexDensity lipoproteinPatientsCholesterolSeverityChitotriosidaseBiomarkersStriking increaseImportant surrogateLipoprotein
2008
Life expectancy in Gaucher disease type 1
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.Peer-Reviewed Original ResearchConceptsGD1 patientsLife expectancyGaucher disease type 1Cause of deathICGG Gaucher RegistryType 1 patientsDisease type 1Gaucher disease type 1 patientsLife table methodReference populationGaucher RegistryPatientsType 1Table methodStandard life-table methodsU.S. populationSurvival dataBirthExpectancyDeathPopulationMalignancyCardiovascularRegistry
1992
Primary biliary cirrhosis--from Thomas Addison to the 1990s.
Mistry P, Seymour CA. Primary biliary cirrhosis--from Thomas Addison to the 1990s. QJM 1992, 82: 185-96. PMID: 1631256.Peer-Reviewed Original Research
1989
INHIBITION OF PLATELET AGGREGATION BY ABNORMAL HIGH DENSITY LIPOPROTEIN PARTICLES IN PLASMA FROM PATIENTS WITH HEPATIC CIRRHOSIS
Desai K, Bagget C, Bellamy M, Mistry P, Burroughs A, Owen J. INHIBITION OF PLATELET AGGREGATION BY ABNORMAL HIGH DENSITY LIPOPROTEIN PARTICLES IN PLASMA FROM PATIENTS WITH HEPATIC CIRRHOSIS. The Lancet 1989, 333: 693-695. PMID: 2564508, DOI: 10.1016/s0140-6736(89)92207-1.Peer-Reviewed Original Research