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
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
2013
Cirrhosis 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
2012
Quantitative histological‐hemodynamic correlations in cirrhosis
Sethasine S, Jain D, Groszmann RJ, Garcia‐Tsao G. Quantitative histological‐hemodynamic correlations in cirrhosis. Hepatology 2012, 55: 1146-1153. PMID: 22109744, PMCID: PMC3721182, DOI: 10.1002/hep.24805.Peer-Reviewed Original ResearchConceptsSignificant portal hypertensionPortal hypertensionFibrosis areaLiver biopsyCirrhotic nodulesNodule sizeHVPG measurementPortal pressureIndependent predictorsSeptal thicknessFibrous septaBiopsyPathophysiological implicationsCirrhosisHVPGPatientsSemiquantitative analysisNodulesOnly parameterHypertensionNumber of nodules