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
2008
p120 Catenin Reduction and Cytoplasmic Relocalization Leads to Dysregulation of E-Cadherin in Solid Pseudopapillary Tumors of the Pancreas
Chetty R, Jain D, Serra S. p120 Catenin Reduction and Cytoplasmic Relocalization Leads to Dysregulation of E-Cadherin in Solid Pseudopapillary Tumors of the Pancreas. American Journal Of Clinical Pathology 2008, 130: 71-76. PMID: 18550473, DOI: 10.1309/feyd99txc4lmyva5.Peer-Reviewed Original Research