2017
Massive Gastric Juvenile Polyposis
Lawless ME, Toweill DL, Jewell KD, Jain D, Lamps L, Krasinskas AM, Swanson PE, Upton MP, Yeh MM. Massive Gastric Juvenile Polyposis. American Journal Of Clinical Pathology 2017, 147: 390-390. PMID: 28340255, DOI: 10.1093/ajcp/aqx015.Peer-Reviewed Original ResearchConceptsGastric juvenile polyposisJuvenile polyposisJuvenile polypsMixed inflammatory infiltrateHigh-grade dysplasiaJuvenile polyposis syndromeAncillary diagnostic testsIntramucosal adenocarcinomaInflammatory infiltrateSecond patientSevere bleedingClinicopathologic featuresIntraepithelial neoplasiaEdematous stromaSevere dysplasiaPolyposis syndromeColumnar epitheliumPolyposisAdenocarcinomaPatientsDiagnostic testsStomachPolypsDysplasiaHypoalbuminemia
2016
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 2016, 63: 1977-1986. PMID: 26874653, PMCID: PMC4874872, DOI: 10.1002/hep.28499.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsCattleChildChild, PreschoolDNA Mutational AnalysisDogsFemaleGenes, RecessiveHomozygoteHumansHypertension, PortalInfantLiver FailureMaleMolecular Sequence DataPedigreePhosphotransferases (Alcohol Group Acceptor)Principal Component AnalysisRatsYoung AdultConceptsIdiopathic noncirrhotic portal hypertensionNoncirrhotic portal hypertensionPortal hypertensionHuman immunodeficiency viral infectionNoncirrhotic liver diseaseStable portal hypertensionSubset of patientsTreatment of patientsNucleoside analog didanosineLiver failureIndeterminate etiologyLiver diseaseHypertensionKinase levelsNew genetic testsViral infectionMechanisms mediatingDGUOK deficiencyPhenotypic spectrumSpecific causesDeoxyguanosine kinaseExome sequencingPatientsConsanguineous familyFunction mutations
2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiology
2010
Molecular Evidence for the Neoplastic Potential of Hepatic Von-Meyenburg Complexes
Jain D, Ahrens W, Finkelstein S. Molecular Evidence for the Neoplastic Potential of Hepatic Von-Meyenburg Complexes. Applied Immunohistochemistry & Molecular Morphology 2010, 18: 166-171. PMID: 19770706, DOI: 10.1097/pai.0b013e3181b94fd8.Peer-Reviewed Original Research