{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T01:59:47Z","timestamp":1773885587535,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,2,19]],"date-time":"2007-02-19T00:00:00Z","timestamp":1171843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background: <\/jats:bold> The cause of Rotor syndrome (RS), a rare<jats:bold>\u2010<\/jats:bold>familial conjugated hyperbilirubinaemia with normal liver histology, is unclear. We hypothesized that RS can be an allelic variant of Dubin\u2013Johnson syndrome, caused by mutation in <jats:italic>ABCC2<\/jats:italic>, and investigated <jats:italic>ABCC2<\/jats:italic> (gene) and ABCC2 (protein) in two patients with RS.<\/jats:p><jats:p><jats:bold>Methods: <\/jats:bold> A 57\u2010year\u2010old male presented with a 5\u2010year history of predominantly conjugated hyperbilirubinaemia (170\u2003\u03bcmol\/l). Urinary porphyrin excretion was increased; cholescintigraphy revealed no chromoexcretion. A 68\u2010year\u2010old male presented with lifelong conjugated hyperbilirubinaemia (85\u2003\u03bcmol\/l). Bromosulfophthalein elimination was typical for RS. Both patients had histologically normal liver, without pigment. ABCC2 expression was investigated by confocal fluorescence microscopy. <jats:italic>ABCC2<\/jats:italic> was sequenced from genomic DNA and cDNA, and exon deletions\/duplications were sought by comparative genomic hybridization on a custom micro\u2010array.<\/jats:p><jats:p><jats:bold>Results: <\/jats:bold> In both patients, ABCC2 was expressed unremarkably at the apical membrane of hepatocytes and no sequence alterations were found in 32 exons, adjacent intronic regions and the promoter region of <jats:italic>ABCC2<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Conclusions: <\/jats:bold> Rotor\u2010type hyperbilirubinaemia is not an allelic variant of <jats:italic>ABCC2<\/jats:italic> deficiency.<\/jats:p>","DOI":"10.1111\/j.1478-3231.2007.01446.x","type":"journal-article","created":{"date-parts":[[2007,2,19]],"date-time":"2007-02-19T07:58:24Z","timestamp":1171871904000},"page":"485-491","source":"Crossref","is-referenced-by-count":23,"title":["Rotor\u2010type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump"],"prefix":"10.1111","volume":"27","author":[{"given":"Martin","family":"H\u0159eb\u00ed\u010dek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1\u0161","family":"Jir\u00e1sek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Hartmannov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lenka","family":"Noskov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktor","family":"Str\u00e1neck\u00fd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Iv\u00e1nek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dita","family":"Cebecauerov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Libor","family":"V\u00edtek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslav","family":"Mikuleck\u00fd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iva","family":"Subhanov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavel","family":"Hoz\u00e1k","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milan","family":"Jirsa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,2,19]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510250635"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90426-5"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197705122961907"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.142.3.7063695"},{"key":"e_1_2_6_6_2","first-page":"1048","article-title":"Cholescintigraphy in the diagnosis of Rotor syndrome","volume":"35","author":"Fretzayas AM","year":"1994","journal-title":"J Nucl Med"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003072-199709000-00013"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000202774"},{"key":"e_1_2_6_9_2","first-page":"315","article-title":"Dual hereditary jaundice","volume":"129","author":"Cebecauerova D","year":"2005","journal-title":"simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome"},{"key":"e_1_2_6_10_2","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/0-387-29362-0_23","volume-title":"Bioinformatics and Computational Biology Solutions using R and Bioconductor","author":"Smyth GK.","year":"2005"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.2202\/1544-6115.1027"},{"key":"e_1_2_6_12_2","first-page":"363","article-title":"Polymorphisms in the ABCC2 (cMOAT\/MRP2) gene found in 72 established cell lines derived from Japanese individuals","volume":"30","author":"Itoda M","year":"2002","journal-title":"an association between single nucleotide polymorphisms in the 5\u2032-untranslated region and exon 28"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng905"},{"key":"e_1_2_6_14_2","first-page":"290","volume-title":"The Liver. 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