2023
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population
Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.Peer-Reviewed Case Reports and Technical NotesConceptsHepatocellular adenomaPediatric populationInflammatory HCASonic hedgehog hepatocellular adenomasYoung type 3Maturity-onset diabetesInflammatory hepatocellular adenomaΒ-catenin-activated hepatocellular adenomaAbernethy malformationPhenotype-genotype correlationClinical historyHCA subtypesH-HCACase 2Case 1Type 3Pathological informationB-HCASubtypesFamily surveillanceLimited studiesMales
2021
Pediatric Hepatocellular Adenomas
Pacheco MC, Torbenson MS, Wu TT, Kakar S, Jain D, Yeh MM. Pediatric Hepatocellular Adenomas. The American Journal Of Surgical Pathology 2021, 45: 1641-1647. PMID: 34148984, PMCID: PMC8608351, DOI: 10.1097/pas.0000000000001763.Peer-Reviewed Original ResearchConceptsHepatocellular adenomaPrepubescent groupPediatric patientsNonsyndromic groupΒ-cateninAdenoma subtypesImmunohistochemical staining profileHepatocellular adenoma subtypesPostpubescent groupClinical characteristicsUnclassified subtypeClinical historySyndromic groupsImmunohistochemical stainingPatientsType adenomasAdenomasSyndromeAge groupsLarger studyStaining profileSubtypesGreater percentageGroupLanguage search
2014
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 4934-4939. PMID: 24639522, PMCID: PMC3977292, DOI: 10.1073/pnas.1400768111.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseBone formation defectGaucher diseaseSerum ceramide levelsBone formation rateEnzyme replacement therapyViable therapeutic targetGD1 patientsGBA deficiencyEnhanced elevationTherapeutic targetBone volumeMononuclear phagocytesClinical phenotypeGBA geneConditional deletionBioactive lipidsSphingosine levelsDevelopment of inhibitorsCeramide levelsLysosomal glucocerebrosidasePatientsNanomolar concentrationsDiseaseMice
2012
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.Peer-Reviewed Original ResearchConceptsGenome analysisGenetic basisCancer phenotypeWhole exome captureNovel mutationsGenomic analysisPhenotype annotationsPhenotype diversityParallel sequencingHomozygosity mappingT-cell acute lymphoblastic lymphomaGenetic modifiersNovel insightsGene sequencingGaucher diseaseMalignancy phenotypeMutationsLysosomal accumulationPhenotypeHomozygous novel mutationPathogenic mutationsGenesMSH6 proteinsSequencingEnzyme studies
2010
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 19473-19478. PMID: 20962279, PMCID: PMC2984187, DOI: 10.1073/pnas.1003308107.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseThymic T cellsGene-deficient miceOsteoblastic bone formationWorthwhile therapeutic targetDendritic cellsSevere osteoporosisAutoimmune diseasesWidespread dysfunctionCytokine measurementsT cellsCell lineagesParkinson's diseaseTherapeutic targetGBA1 geneMononuclear phagocytesGaucher diseaseGlucocerebrosidase deficiencyMolecular dysregulationDiseaseInhibitory effectBone formationMultiple cell lineagesMesenchymal cell lineagesMacrophagesExpanding 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
2004
Target Antigens Determine Graft-versus-Host Disease Phenotype
Kaplan DH, Anderson BE, McNiff JM, Jain D, Shlomchik MJ, Shlomchik WD. Target Antigens Determine Graft-versus-Host Disease Phenotype. The Journal Of Immunology 2004, 173: 5467-5475. PMID: 15494494, DOI: 10.4049/jimmunol.173.9.5467.Peer-Reviewed Original ResearchConceptsHost diseaseSkin diseasesBALB/c recipientsAllogeneic stem cell transplantationBALB/c miceSubset of patientsStem cell transplantationT cell repertoireKey pathologic featuresBALB/cX BALB/Host disease phenotypesCutaneous cGVHDMurine donorsSystemic GVHDC recipientsFrequent complicationCutaneous fibrosisPathologic featuresSystemic diseaseB miceCell transplantationC miceK miceImmunodominant Ag