| Attributes | Values |
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| rdf:type
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| Description
| - V této studii jsme analyzovali zda Rotororův syndrom (RS) může být allelickou variantou Dubin-Johnson syndromu, který je způsobený mutací v ABCC2 genu. Analyzovali jsme ABCC2 gen u dvou pacientů, 57-mi letého muže s 5 let trvající hyperbilirubinemií a zvýšenou exkrecí prophyrinu v moči; 68-mi letého muže s celoživotní hyperbilirubinemií. Oba pacienti měli normální histologický obraz jater bez pigmentu. ABCC2 gen byl sekvenován z genomové DNA i z cDNA, exonové dupliklace/delece byly analyzovány komparativní genomovou hybridizací na DNA mikročipu. U obou pacientů byla detekována běžná exprese v apikální membráně hepatocytů. Zároveň nebyla nalezena mutace v sekvenci v žádném z 32 exonů, přilehlých intronových sekvencích ani promotoru ABCC2 genu. (cs)
- In this study, we have examined whether the Rotor syndrome (RS) could be an allelic variant of Dubin-Johnson syndrome, caused by mutation in ABCC2. We have investigated ABCC2 gene in two patients: A 57-year-old male presented with a 5-year history of predominantly conjugated hyperbilirubinaemia, increased excretion of urinary porphyrin. A 68-year-old male presented with lifelong conjugated hyperbilirubinaemia. Both patients had histologically normal liver, without pigment. ABCC2 expression was investigated by confocal fluorescence microscopy. ABCC2 was sequenced from genomic DNA and cDNA, and exon deletions/duplications were sought by comparative genomic hybridization on a custom microarray. 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 ABCC2.
- In this study, we have examined whether the Rotor syndrome (RS) could be an allelic variant of Dubin-Johnson syndrome, caused by mutation in ABCC2. We have investigated ABCC2 gene in two patients: A 57-year-old male presented with a 5-year history of predominantly conjugated hyperbilirubinaemia, increased excretion of urinary porphyrin. A 68-year-old male presented with lifelong conjugated hyperbilirubinaemia. Both patients had histologically normal liver, without pigment. ABCC2 expression was investigated by confocal fluorescence microscopy. ABCC2 was sequenced from genomic DNA and cDNA, and exon deletions/duplications were sought by comparative genomic hybridization on a custom microarray. 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 ABCC2. (en)
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| Title
| - Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
- U hyperbilirubinémie typu Rotorova syndromu nebyl nalezena mutace v genu pro kanalikulární membránový transportér (cs)
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump (en)
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| skos:prefLabel
| - Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
- U hyperbilirubinémie typu Rotorova syndromu nebyl nalezena mutace v genu pro kanalikulární membránový transportér (cs)
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump (en)
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| skos:notation
| - RIV/68378050:_____/07:00097977!RIV08-AV0-68378050
|
| http://linked.open.../vavai/riv/strany
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
| - P(1A8239), Z(AV0Z50520514), Z(MSM0021620806), Z(MZ0IKEM2005)
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
| |
| http://linked.open...ai/riv/idVysledku
| - RIV/68378050:_____/07:00097977
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Rotor-type hyperbilirubinaemia; ABCC2 (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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| http://linked.open...ontrolniKodProRIV
| |
| http://linked.open...i/riv/nazevZdroje
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| http://linked.open...in/vavai/riv/obor
| |
| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
| |
| http://linked.open...vavai/riv/projekt
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
| |
| http://linked.open...iv/tvurceVysledku
| - Hozák, Pavel
- Ivánek, Robert
- Jirásek, T.
- Hartmannová, H.
- Kmoch, S.
- Nosková, L.
- Hřebíček, M.
- Mikulecký, M.
- Subhanová, I.
- Vítek, L.
- Stránecký, V.
- Jirsa, M.
- Cebecauerová, D.
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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| is http://linked.open...avai/riv/vysledek
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