2014
Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation
Nair S, Boddupalli CS, Verma R, Liu J, Yang R, Pastores GM, Mistry PK, Dhodapkar MV. Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation. Blood 2014, 125: 1256-1271. PMID: 25499455, PMCID: PMC4335081, DOI: 10.1182/blood-2014-09-600270.Peer-Reviewed Original ResearchConceptsI NKT cellsNKT cellsB cell activationT cellsB cellsTetramer-positive T cellsType II natural killer T cellsT cell receptor usageType I NKT cellsType II NKT cellsNatural killer T cellsFollicular helper phenotypeGD mouse modelMetabolic lipid disordersKiller T cellsB cell immunityGerminal center B cellsB-cell malignanciesAntilipid antibodiesDisease activityCytokine profileChronic inflammationHelper phenotypeHumoral immunityCognate help
2012
Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK. Genome‐wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. American Journal Of Hematology 2012, 87: 377-383. PMID: 22388998, PMCID: PMC3684025, DOI: 10.1002/ajh.23118.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCells, CulturedEpistasis, GeneticFemaleFibroblastsGaucher DiseaseGenome-Wide Association StudyGenotypeGermanyGlucosylceramidaseHomozygoteHumansJewsMacrophagesMaleMembrane ProteinsMiddle AgedMutation, MissensePhenotypePolymorphism, Single NucleotidePsychosineSeverity of Illness IndexConceptsGaucher diseaseType 1 Gaucher's diseaseMild Gaucher diseaseSevere disease categoryCandidate modifier genesGlucosylceramide-laden macrophagesAshkenazi Jewish patientsRisk allele ACultured skin fibroblastsEligible patientsMild diseaseOdds ratioSevere diseaseGBA1 mutationsPatientsJewish patientsDisease severityDisease categoriesCLN8 geneRisk allelesDiseaseN370S mutationSeveritySkin fibroblastsGenetic modifiers
2010
Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease
Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinAcid PhosphataseBiomarkersCarrier ProteinsCells, CulturedCholesterol EstersDiagnostic ErrorsDNA Mutational AnalysisEnzyme InhibitorsEnzyme Replacement TherapyEsterificationFemaleGaucher DiseaseGenetic Predisposition to DiseaseGlucosylceramidaseGlucosyltransferasesHepatomegalyHeterozygoteHexosaminidasesHumansInfantIntracellular Signaling Peptides and ProteinsIsoenzymesMembrane GlycoproteinsMutationNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPhenotypePredictive Value of TestsSplenomegalyTartrate-Resistant Acid PhosphataseUnnecessary ProceduresConceptsNiemann-Pick disease type CAcid β-glucosidase activityDisease type CGaucher diseaseSerum chitotriosidaseCholesterol esterificationDiagnosis of NPCEnzyme replacement therapySkin fibroblastsTartrate-resistant acid phosphataseType CFalse-positive testingCultured skin fibroblastsVisceral diseasePediatric patientsPrompt diagnosisDiagnostic delayInitial presentationInitial diagnosisReplacement therapyEffective therapyNeurological abnormalitiesCorrect diagnosisPositive testingHigh index
1995
Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells
Newman C, Bruun B, Porter K, Mistry P, Shanahan C, Weissberg P. Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells. Arteriosclerosis Thrombosis And Vascular Biology 1995, 15: 2010-2018. PMID: 7583583, DOI: 10.1161/01.atv.15.11.2010.Peer-Reviewed Original ResearchConceptsHuman vascular smooth muscle cellsOP gene expressionVascular smooth muscle cellsRat vascular smooth muscle cellsGene expressionRodent vascular smooth muscle cellsAsp cell-binding sequenceSmooth muscle cellsCell-binding sequenceOP mRNAMuscle cellsNorthern blot analysisCultured human vascular smooth muscle cellsNormal growth mediumMRNA expressionFibroblast growth factorBasic fibroblast growth factorBalloon carotid injuryCultured rat vascular smooth muscle cellsCultured human macrophagesLipid loadingGrowth mediumTGF beta 1Situ hybridization studiesSaphenous veinHigh Expression of Osteopontin mRNA in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture
NEWMAN CM, BRUUN BC, MISTRY PK, WEISSBERG PL, SHANAHAN CM. High Expression of Osteopontin mRNA in Human Macrophages but Not Human Vascular Smooth Muscle Cells in Culture. Annals Of The New York Academy Of Sciences 1995, 760: 381-382. PMID: 7785923, DOI: 10.1111/j.1749-6632.1995.tb44663.x.Peer-Reviewed Original Research
1984
Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts.
Owen JS, Goodall H, Mistry P, Harry DS, Day RC, McIntyre N. Abnormal high density lipoproteins from patients with liver disease regulate cholesterol metabolism in cultured human skin fibroblasts. Journal Of Lipid Research 1984, 25: 919-931. PMID: 6491539, DOI: 10.1016/s0022-2275(20)37730-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBinding, CompetitiveCells, CulturedCholesterolElectrophoresis, Polyacrylamide GelFemaleFibroblastsHepatitis, AlcoholicHepatitis, ChronicHumansIsoelectric FocusingLipoproteins, HDLLipoproteins, LDLLiver Cirrhosis, AlcoholicLiver Cirrhosis, BiliaryLiver DiseasesMaleMiddle AgedSucroseConceptsPatients' high-density lipoproteinHigh-density lipoproteinLiver diseaseCholesterol metabolismCultured human skin fibroblastsDensity lipoproteinCell cholesteryl ester contentReceptor activityMicrograms/Human skin fibroblastsAbnormal high-density lipoproteinNormal high density lipoproteinsHDL protein concentrationLow-density lipoproteins bindSkin fibroblastsLDL receptor pathwayCholesteryl ester contentIntracellular cholesterol metabolismCellular cholesterol esterificationHigh-affinity receptorReceptor-mediated pathwayDegradation of 125ICellular cholesterol metabolismLDL catabolismApolipoprotein B