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Description
| - Transcription start sites, promoter and enhancer regions of the of human OTC gene are described. We report the first patient in which the only variation found was a nucleotide substitution in promoter region. We found that transcriptional activity of human OTC promoter depends on an upstream enhancer. The promoter – enhancer interaction contributes to tissue specific expression of OTC in the liver. A unique nucleotide substitution in the promoter does not affect the function of the promoter alone but it disrupts its interaction with the enhancer.
- Transcription start sites, promoter and enhancer regions of the of human OTC gene are described. We report the first patient in which the only variation found was a nucleotide substitution in promoter region. We found that transcriptional activity of human OTC promoter depends on an upstream enhancer. The promoter – enhancer interaction contributes to tissue specific expression of OTC in the liver. A unique nucleotide substitution in the promoter does not affect the function of the promoter alone but it disrupts its interaction with the enhancer. (en)
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Title
| - Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency (en)
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skos:prefLabel
| - Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency
- Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency (en)
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skos:notation
| - RIV/00216208:11110/10:7700!RIV11-MZ0-11110___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - I, P(NR9364), Z(MSM0021620806)
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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
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11110/10:7700
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - ornithine carbamoyltransferase; OTC deficiency; promoter; enhancer; expression; dual luciferase reporter assay; transcarbamylase gene; expression; mice; dna (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Dvořáková, Lenka
- Jirsa, Milan
- Lukšan, Ondřej
- Vlášková, Hana
- Hřebíček, Martin
- Štorkánová, Gabriela
- Hnízdová-Boučková, Michaela
- Minks, Jakub
- Trešlová, Helena
- Eberova, Jitka
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http://linked.open...ain/vavai/riv/wos
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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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http://localhost/t...ganizacniJednotka
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