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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Projekt, within Data Space : linked.opendata.cz associated with source document(s)

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Description
  • The aim of the project is to introduce novel molecular-genetic, genomic and proteomic approaches in diagnostics of serious heart and vascular diseases. (en)
  • Očekávaným cílem projektu je zavedení nových molekulárně genetických, genomických a proteomických přístupů v diagnostice závažných onemocnění srdce a cév.
Title
  • Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches (en)
  • Vývoj diagnostiky a léčby závažných onemocnění srdce a cév pomocí genomických a epigenomických přístupů
skos:notation
  • 2B08060
http://linked.open...avai/cep/aktivita
http://linked.open...kovaStatniPodpora
http://linked.open...ep/celkoveNaklady
http://linked.open...datumDodatniDoRIV
http://linked.open...i/cep/druhSouteze
http://linked.open...ep/duvernostUdaju
http://linked.open.../cep/fazeProjektu
http://linked.open...ai/cep/hlavniObor
http://linked.open...hodnoceniProjektu
http://linked.open...vai/cep/kategorie
http://linked.open.../cep/klicovaSlova
  • Cardiovascular disorders; familial hypercholesterolemia; LDL receptor; cholesterol; aortic valve calcification; NOTCH1; DNA microarray; chromatin immunoprecipitation; real-time PCR; epigenetics; posttranslational modifications; mass spectrometry (en)
http://linked.open...ep/partnetrHlavni
http://linked.open...inujicichPrijemcu
http://linked.open...cep/pocetPrijemcu
http://linked.open...ocetSpoluPrijemcu
http://linked.open.../pocetVysledkuRIV
http://linked.open...enychVysledkuVRIV
http://linked.open...lneniVMinulemRoce
http://linked.open.../prideleniPodpory
http://linked.open...iciPoslednihoRoku
http://linked.open...atUdajeProjZameru
http://linked.open.../vavai/cep/soutez
http://linked.open...usZobrazovaneFaze
http://linked.open...ai/cep/typPojektu
http://linked.open...ep/ukonceniReseni
http://linked.open.../cep/vedlejsiObor
http://linked.open...ep/zahajeniReseni
http://linked.open...jektu+dodavatelem
  • Byly analyzovány geny asociované s FH u 2239 pacientů. U 265 byly detekovány mutace v APOB a u 535 mutace v LDLR. Byla provedena statistická analýza lipidových profilů. Byly popsány dva mechanismy vzniku delecí/duplikací v LDLR – NAHR a NHEJ. Do praxe byl zaveden genotypovací čip pro diagnostiku FH. Byly zavedeny metody pro analýzu posttranslačních modifikací histonů pomocí LC-MS/MS, MALDI-MS. (cs)
  • Analysis of genes associated with FH was performed in 2239 patients - in 267 and 535 of them mutations were detected in APOB and LDLR resp. Statistical analyses of lipid profiles were performed. Two mechanisms of deletion/duplication formation were described - NAHR and NHEJ. The chip for diagnostics FH was introduced, as well as methods for analysis of histone modifications by LC-MS/MS, MALDI-MS. (en)
http://linked.open...tniCyklusProjektu
http://linked.open.../cep/klicoveSlovo
  • DNA microarray
  • cholesterol
  • epigenetics
  • real-time PCR
  • LDL receptor
  • NOTCH1
  • aortic valve calcification
  • chromatin immunoprecipitation
  • familial hypercholesterolemia
  • posttranslational modifications
  • Cardiovascular disorders
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