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
2007
Blockade of NKG2D on NKT cells prevents hepatitis and the acute immune response to hepatitis B virus
Vilarinho S, Ogasawara K, Nishimura S, Lanier LL, Baron JL. Blockade of NKG2D on NKT cells prevents hepatitis and the acute immune response to hepatitis B virus. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 18187-18192. PMID: 17991774, PMCID: PMC2084318, DOI: 10.1073/pnas.0708968104.Peer-Reviewed Original ResearchConceptsHepatitis B virusHepatitis B viral infectionB virusImmune responseAcute hepatitisNKT cellsLiver injuryViral infectionCell-mediated immune responsesBlockade of NKG2DPrimary HBV infectionAcute liver injuryAcute immune responseTransgenic mouse modelPotential therapeutic targetNKG2D-ligand interactionChronic hepatitisHBV infectionAlpha-GalCerNatural killerHepatic pathologyViral antigensMouse modelTherapeutic targetHepatitis