| Attributes | Values |
|---|
| rdf:type
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| Description
| - Kalpain3 je svalově specifickou nonlysozomální cystein proteinázou. Ztráta proteolytické funkce nebo změna dalších vlastností tohoto enzymu se manifestuje jako pletencová svalová dystrofie typu 2A. Tyto patologické změny jsou způsobeny mutacemi calpain3 genu. Fakt, že tento gen je velmi dlouhý, nás vede k analýze jeho kódovacích sekvencí následované sekvenční analýzou. Studie ukazuje 9 mutací, které jsme nalezli při analýze mRNA sedmi nezávislých LGMD pacientů. 3 z těchto mutací jsou dosud v literatuře nepopsané. Pozorovali jsme rovněž redukci dysferlinu u 5 ze 7 LGMD2A pacientů při imunohistochemické analýze vzorku svalu. (cs)
- Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Los, of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). These pathological changes in properties of calpain3 are caused by mutations in the calpain3 gene. The fact that the human gene for calpain3 is quite long led us to analyse its coding sequence by reverse transcription-PCR followed by sequence analysis. This study reports nine mutations that we found by analysing mRNA of seven unrelated LGMD patients in the Czech Republic. Three of these Mutations were novel, not described on the Leiden muscular dystrophy pages so far. Further, we observed a reduction of dysferlin in muscle membrane in five of our seven LGMD2A patients by immunohistochemical analysis of muscle sections.
- Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Los, of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). These pathological changes in properties of calpain3 are caused by mutations in the calpain3 gene. The fact that the human gene for calpain3 is quite long led us to analyse its coding sequence by reverse transcription-PCR followed by sequence analysis. This study reports nine mutations that we found by analysing mRNA of seven unrelated LGMD patients in the Czech Republic. Three of these Mutations were novel, not described on the Leiden muscular dystrophy pages so far. Further, we observed a reduction of dysferlin in muscle membrane in five of our seven LGMD2A patients by immunohistochemical analysis of muscle sections. (en)
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| Title
| - Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
- Mutace u českých LGMD2A pacientů odhalené analýzou calpain3 mRNA a jejich fenotypový projev (cs)
- Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome (en)
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| skos:prefLabel
| - Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
- Mutace u českých LGMD2A pacientů odhalené analýzou calpain3 mRNA a jejich fenotypový projev (cs)
- Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome (en)
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| skos:notation
| - RIV/00843989:_____/04:00100077!RIV09-MSM-00843989
|
| http://linked.open...avai/riv/aktivita
| |
| http://linked.open...avai/riv/aktivity
| - P(NE6506), P(NR8087), V, Z(MSM 143100008), Z(MZ0/98:0001)
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| http://linked.open...iv/cisloPeriodika
| |
| 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
| |
| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
| |
| http://linked.open...ai/riv/idVysledku
| - RIV/00843989:_____/04:00100077
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| http://linked.open...riv/jazykVysledku
| |
| http://linked.open.../riv/klicovaSlova
| - limb girdle muscular dystrophy; LGMD2A; Calpain 3; dysferlin; mRNA (en)
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| http://linked.open.../riv/klicoveSlovo
| |
| 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
| |
| 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
| |
| http://linked.open...UplatneniVysledku
| |
| http://linked.open...v/svazekPeriodika
| |
| http://linked.open...iv/tvurceVysledku
| - Zámečník, J.
- Staněk, Jan
- Fajkusová, L.
- Hermanová, M.
- Mazanec, R.
- Havlová, M.
- Vondráček, P.
- Maříková, T.
- Kroupová, I.
- Chrobáková, T.
|
| http://linked.open...ain/vavai/riv/wos
| |
| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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