2015
The Role of ARF6 in Biliary Atresia
Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. The Role of ARF6 in Biliary Atresia. PLOS ONE 2015, 10: e0138381. PMID: 26379158, PMCID: PMC4574480, DOI: 10.1371/journal.pone.0138381.Peer-Reviewed Original Research
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
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype
Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types—Correlation with genotype and phenotype. American Journal Of Hematology 2010, 85: 340-345. PMID: 20425796, PMCID: PMC2875938, DOI: 10.1002/ajh.21684.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseGaucher diseaseMultiple myelomaMultiple malignanciesMultiple cancersEnzyme replacement therapy statusDiagnosis of GD1Initiation of ERTRate of splenectomySeries of patientsSystemic macrophage activationTypes of malignanciesLymphoma/leukemiaAccumulation of glucosylceramideAsplenic patientsGBA1 genotypeGD1 patientsSequential cancersFirst cancerSplenectomy statusTherapy statusNonhematologic malignanciesHematologic malignanciesIntact spleenProstate cancer