2016
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 11289-11293. PMID: 27647924, PMCID: PMC5056113, DOI: 10.1073/pnas.1613228113.Peer-Reviewed Original ResearchConceptsAcyl-CoA oxidase 2Liver fibrosisCognitive impairmentElevated transaminase levelsTreatable inborn errorsBile acid synthesisBile acid intermediatesBile acid biosynthesisTransaminase elevationTransaminase levelsMarked elevationMild ataxiaBile acidsPatient's liverOxidase 2Acyl-CoA oxidaseOld maleBranched chain acyl-CoA oxidaseInborn errorsExome sequencingPremature termination mutationsBranched-chain fatty acidsFibrosisAtaxiaLiver
2012
Liver Transplantation: From Inception to Clinical Practice
Vilarinho S, Lifton RP. Liver Transplantation: From Inception to Clinical Practice. Cell 2012, 150: 1096-1099. PMID: 22980971, DOI: 10.1016/j.cell.2012.08.030.Books
2011
IL-21 is pivotal in determining age-dependent effectiveness of immune responses in a mouse model of human hepatitis B
Publicover J, Goodsell A, Nishimura S, Vilarinho S, Wang ZE, Avanesyan L, Spolski R, Leonard WJ, Cooper S, Baron JL. IL-21 is pivotal in determining age-dependent effectiveness of immune responses in a mouse model of human hepatitis B. Journal Of Clinical Investigation 2011, 121: 1154-1162. PMID: 21393863, PMCID: PMC3049376, DOI: 10.1172/jci44198.Peer-Reviewed Original ResearchConceptsIL-21 productionImmune responseHBV infectionIL-21Viral clearanceYoung miceAdult miceHepatic immune responseAge-dependent outcomesIL-21 receptorB cell responsesAge-dependent effectivenessHuman hepatitis BChronic hepatitisHBV antigensHepatitis BYounger patientsLiver diseaseAntigen persistenceChronic infectionTherapeutic augmentationMajor human pathogenMouse modelBlood samplesAnimal models
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