Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications
Colombo C, Okolicsanyi L, Strazzabosco M. Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications. Digestive And Liver Disease 2000, 32: 152-159. PMID: 10975791, DOI: 10.1016/s1590-8658(00)80403-x.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesATP Binding Cassette Transporter, Subfamily BATP-Binding Cassette TransportersCalcium-Binding ProteinsCholestasisDiagnosis, DifferentialGenetic MarkersGenetic Predisposition to DiseaseHumansIntercellular Signaling Peptides and ProteinsJagged-1 ProteinMembrane ProteinsMolecular BiologyMutationPhenotypeProteinsSerrate-Jagged ProteinsConceptsGenetic analysisP-type ATPasesUnknown physiological functionBile salt export pump geneDifferent genetic diseasesProgressive familial intrahepatic cholestasis patientsAnalysis of mutationsCell fateEarly embryogenesisLiver cell biologyCell biologyMolecular geneticsPhysiological functionsGenesGenetic diseasesCanalicular bile salt export pumpSpecific mutationsMDR3 proteinMutationsJagged-1Export pumpNotch-1Acid synthesisAcid analysisBile salt export pump