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
2000
PROGRAMMED CELL DEATH SIGNALING VIA CELL-SURFACE EXPRESSION OF A SINGLE-CHAIN ANTIBODY TRANSGENE
Kulkarni S, Holman P, Kopelan A, van Seventer G, van Seventer J, Kranz D, Woodle E. PROGRAMMED CELL DEATH SIGNALING VIA CELL-SURFACE EXPRESSION OF A SINGLE-CHAIN ANTIBODY TRANSGENE. Transplantation 2000, 69: 1209-1217. PMID: 10762228, DOI: 10.1097/00007890-200003270-00028.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnnexin A5Antibodies, Anti-IdiotypicAntibodies, MonoclonalAntibody SpecificityApoptosisBinding Sites, AntibodyCHO CellsCoculture TechniquesCricetinaeFlow CytometryGene ExpressionHistocompatibility Antigens Class IHumansImmunoglobulin Variable RegionLymphoid TissueMembrane ProteinsPhosphatidylinositolsTransfectionTransgenesTumor Cells, CulturedConceptsPeripheral blood mononuclear cellsBlood mononuclear cellsClass I MHCMononuclear cellsI MHCMembrane expressionTumor cellsImmune modulatory signalsTypical histologic featuresHuman lymphoid tumor cellsHuman class I MHCPotential clinical utilityLymphoid tumor cellsWhole antibody moleculesV-fluorescein isothiocyanateHistologic featuresMonomorphic determinantsHLA-A2Responder cellsCell surface expressionClinical utilityTherapeutic strategiesSingle-chain variable antibodyMonoclonal antibodiesChinese hamster ovary cells