2023
Graft-versus-host disease is locally maintained in target tissues by resident progenitor-like T cells
Sacirbegovic F, Günther M, Greco A, Zhao D, Wang X, Zhou M, Rosenberger S, Oberbarnscheidt M, Held W, McNiff J, Jain D, Höfer T, Shlomchik W. Graft-versus-host disease is locally maintained in target tissues by resident progenitor-like T cells. Immunity 2023, 56: 369-385.e6. PMID: 36720219, PMCID: PMC10182785, DOI: 10.1016/j.immuni.2023.01.003.Peer-Reviewed Original ResearchConceptsHost diseaseAllogeneic hematopoietic stem cell transplantationHematopoietic stem cell transplantationChronic antigen stimulationStem cell transplantationAlloreactive effectorsAdoptive transferCell transplantationΑβ TAntigen stimulationCell exhaustionGVHDRecipient tissuesEffector poolMajor causeCell clonesTarget tissuesAffected tissuesDiseaseGraftTissueTCF-1CellsDiseased tissuesMorbidity
2022
Systemic Manifestations of Gastrointestinal Tract Diseases and Systemic Diseases Involving the Gastrointestinal Tract
Patel N, Das P, Jain D. Systemic Manifestations of Gastrointestinal Tract Diseases and Systemic Diseases Involving the Gastrointestinal Tract. 2022, 521-572. DOI: 10.1007/978-981-16-6395-6_14.Peer-Reviewed Original ResearchExtraintestinal manifestationsGastrointestinal disordersSystemic diseaseGastrointestinal tractPrimary gastrointestinal disordersCommon gastrointestinal disorderInflammatory bowel diseaseCommon systemic diseasesGastrointestinal tract diseaseGastrointestinal symptomsBowel diseaseRenal diseaseSystemic manifestationsVasculitic disordersWhipple's diseaseSystemic disordersVascular diseaseCeliac diseaseGastrointestinal infectionsTract diseasePathogenetic mechanismsPolyposis syndromeGastrointestinal diseasesPancreatic diseaseDisease
2021
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Aksu A, Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. Journal Of Experimental Medicine 2021, 218: e20201745. PMID: 33956074, PMCID: PMC8105721, DOI: 10.1084/jem.20201745.Peer-Reviewed Original ResearchConceptsLiver sinusoidal endothelial cellsPortal hypertensionEndothelial cell homeostasisHepatic endothelial cellsEndothelial cellsLiver diseaseUnexplained portal hypertensionGlobal health problemSinusoidal endothelial cellsCell homeostasisSingle-cell RNA-sequencing analysisHypertensionMouse modelHealth problemsMice resultsGimap5RNA sequence analysisMajor contributorCritical regulatorDiseaseCellsDamaging mutationsHomeostasisDecompensationMorbidity
2020
Motility Disorders of the Gastrointestinal Tract
Morotti R, Jain D. Motility Disorders of the Gastrointestinal Tract. Practical Anatomic Pathology 2020, 313-337. DOI: 10.1007/978-3-030-51268-2_13.Peer-Reviewed Original ResearchMotility disordersGastrointestinal tractRole of immunohistochemistryVisceral myopathyVisceral neuropathyClinical correlatesHirschsprung's diseaseHistologic characteristicsCommon disorderAdverse effectsDisordersHistochemical stainsMotility functionTractNeuropathyMedicationsImmunohistochemistryWorkupMyopathyDiseaseDiagnosis
2019
Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.Peer-Reviewed Original ResearchLiver diseaseHigh GGTUndiagnosed liver diseaseHomozygous mutationCholestatic liver diseaseUnmet medical needWhole-exome sequencingSame homozygous mutationPediatric hepatologyNeonatal cholestasisRare homozygous mutationUnclear etiologyCholestasisUndiagnosed childrenMedical needUnrelated childrenGermline DNADiseaseMember 12ChildrenConsanguineous unionsOlder siblingsMissense mutationsGGTDamaging mutations
2016
Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells
Monestime G, Borger DK, Kim J, Lopez G, Allgaeuer M, Jain D, Vortmeyer A, Wang HW, Sidransky E. Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells. Molecular Genetics And Metabolism 2016, 118: 55-59. PMID: 26992326, DOI: 10.1016/j.ymgme.2016.02.008.Peer-Reviewed Original ResearchConceptsAutopsy findingsGaucher diseaseDose/durationEnzyme replacement therapySpleen statusPathological findingsReplacement therapyDisease burdenPathological studiesGaucher cellsPatientsHematological symptomsExtensive involvementTherapyParkinsonismDiseaseMultiple tissuesComplete absenceFindingsAutopsiesSymptomsPathologyBiomarkersCare
2015
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatric Gastroenterology Hepatology & Nutrition 2015, 18: 202-208. PMID: 26473142, PMCID: PMC4600706, DOI: 10.5223/pghn.2015.18.3.202.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasis type 3Wilson's diseaseElevated hepatic copperUrine copper excretionCurrent diagnostic criteriaAutosomal recessive disorderHepatic copper contentOlder patientsHepatocellular originUrsodeoxycholic acidDiagnostic criteriaMolecular genetic diagnosisCopper excretionABCB4 geneCholestasisDiagnosisBiochemical testingHepatic copperRecessive disorderType 3Novel mutationsGenetic diagnosisDiseaseMolecular diagnosticsTreatment
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
2013
Pediatric Cholestatic Disorders Approach to Pathologic Diagnosis
Morotti RA, Jain D. Pediatric Cholestatic Disorders Approach to Pathologic Diagnosis. Surgical Pathology Clinics 2013, 6: 205-225. PMID: 26838972, DOI: 10.1016/j.path.2013.03.001.Peer-Reviewed Original ResearchLiver diseaseDiagnostic challengePediatric cholestatic disordersClinical featuresPediatric groupHistopathologic featuresCholestatic disordersHistopathologic findingsPathologic diagnosisDifferential diagnosisDiagnostic modalitiesBile synthesisMolecular abnormalitiesDiagnosisDiseaseDisordersSignificant overlapPathophysiologyMolecular geneticsAbnormalitiesCirrhosis Regression and Subclassification
Bedossa P, Garcia-Tsao G, Jain D. Cirrhosis Regression and Subclassification. Surgical Pathology Clinics 2013, 6: 295-309. PMID: 26838976, DOI: 10.1016/j.path.2013.03.006.Peer-Reviewed Original ResearchFibrosis areaSeptal widthChronic liver diseaseNodule sizeCirrhosis regressionPortal hypertensionUnderlying diseaseHemodynamic consequencesLiver diseaseLiver fibrosisSuccessful treatmentVascular remodelingDisease severityCirrhosisEnd pointFibrosisDiseaseProgressionClassification systemHypertensionDecompensationSubclassification
2011
Haematological Disorders of the Liver
Mistry P, Jain D. Haematological Disorders of the Liver. 2011, 48-69. DOI: 10.1002/9781444341294.ch4.Peer-Reviewed Original ResearchLiver diseaseHaematological disordersEnd-stage liver diseasePrimary haematological disordersPrimary liver diseaseAcute liver failureMajor clinical significanceE hepatitisLiver transplantationLiver involvementLiver failureNormal physiological interactionsErythrocyte dysfunctionClinical significanceAbnormal plateletsHaematological effectsBone marrowCoagulation pathwayDiseaseDisease statesMembrane abnormalitiesStorage diseaseDisordersLiverPhysiological interactions
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 lineagesMacrophages
2005
Liver Biopsy
Sheela H, Seela S, Caldwell C, Boyer JL, Jain D. Liver Biopsy. Journal Of Clinical Gastroenterology 2005, 39: 603-610. PMID: 16000929, DOI: 10.1097/01.mcg.0000170742.59134.60.Peer-Reviewed Original ResearchConceptsLiver biopsyCertain clinical settingsAutoimmune hepatitisEssential diagnostic toolLiver diseasePercutaneous approachCommon disorderIntraoperative approachDisease prognosisTherapeutic strategiesBiopsySerologic diagnosisClinical settingGenetic disordersDiagnostic toolDiagnosisDisordersLaboratory testsIndicationsHepatitisContraindicationsLaparoscopicComplicationsPrognosisDiseaseIleostomy Adenocarcinomas in the Setting of Ulcerative Colitis
Achneck HE, Wong IY, Kim PJ, Fernandes MA, Walther Z, Seymour NE, Jain D. Ileostomy Adenocarcinomas in the Setting of Ulcerative Colitis. Journal Of Clinical Gastroenterology 2005, 39: 396-400. PMID: 15815208, DOI: 10.1097/01.mcg.0000159216.39795.4a.Peer-Reviewed Case Reports and Technical NotesConceptsUlcerative colitisIleostomy siteLongstanding ulcerative colitisCases of adenocarcinomaSignet ring cellsAbundant extracellular mucinFamilial adenomatous polyposis coliIleostomy adenocarcinomaKock ileostomyMarked inflammationTotal proctocolectomyInitial biopsySubsequent biopsyCrohn's diseaseColon resectionNew ileostomyCytologic atypiaPrior historyExtracellular mucinAdenocarcinomaColitisIleostomyRare occurrenceDiseaseAdenomatous polyposis coli
2004
Immunohistochemical testing for Helicobacter pylori infection in ascending aortic aneurysms and penetrating aortic ulcers
Koullias GJ, Korkolis DP, Hatzaras IS, Elefteriades JA, Jain D. Immunohistochemical testing for Helicobacter pylori infection in ascending aortic aneurysms and penetrating aortic ulcers. The American Journal Of Cardiology 2004, 93: 122-123. PMID: 14697486, DOI: 10.1016/j.amjcard.2003.09.025.Peer-Reviewed Original ResearchConceptsH. pylori infectionPylori infectionAortic aneurysmPossible H. pylori infectionCoronary artery diseaseHelicobacter pylori infectionAortic ulcerArtery diseaseImmunohistochemical testingAneurysmal lesionsInfectious componentH. pyloriHelicobacter pyloriUlcersAneurysmsHuman specimensInfectionLesionsPyloriDisease
2003
Chronic liver graft-versus-host disease presenting as acute hepatitis
Shinoura S, Jain D, Cooper D, Seropian S, Robert M. Chronic liver graft-versus-host disease presenting as acute hepatitis. The American Journal Of Gastroenterology 2003, 98: s102-s102. DOI: 10.1111/j.1572-0241.2003.08036.x.Peer-Reviewed Original Research553 Histologic-hemodynamic correlations in hepatitis C and other chronic liver diseases — is there a histologically mild and severe cirrhosis?
Nagula S, Jain D, Groszmann R, Garcia-Tsao G. 553 Histologic-hemodynamic correlations in hepatitis C and other chronic liver diseases — is there a histologically mild and severe cirrhosis? Hepatology 2003, 38: 426-427. DOI: 10.1016/s0270-9139(03)80595-5.Peer-Reviewed Original Research