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
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
1981
Low Density Lipoprotein Binding by Cultured Human Skin Fibroblasts; the Inhibitory Effect of High-Density Lipoprotein from Patients with Liver Disease
Owen J, Mistry P, Goodall H, Chu P, Harry D, Day R, McIntyre N. Low Density Lipoprotein Binding by Cultured Human Skin Fibroblasts; the Inhibitory Effect of High-Density Lipoprotein from Patients with Liver Disease. Clinical Science 1981, 60: 20p-20p. DOI: 10.1042/cs060020p.Peer-Reviewed Original Research