2023
Diagnosis and classification of vascular liver disorders
González I, Jain D. Diagnosis and classification of vascular liver disorders. Diagnostic Histopathology 2023, 29: 36-51. DOI: 10.1016/j.mpdhp.2022.10.005.Peer-Reviewed Original ResearchLiver vasculatureVascular liver disordersUnderlying liver diseaseNoncirrhotic portal hypertensionAcute liver failureDual blood supplyDiverse clinical presentationsTerminal portal venulesKey histologicPortal hypertensionAtypical presentationLiver biopsyLiver failureClinical featuresClinical presentationHepatic arteryLiver diseaseUnclear diagnosisHepatic veinHistologic findingsPortal veinChallenging disorderLiver disordersBlood supplyHepatic sinusoids
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