About: WILSON DISEASE - GENETIC FACTORS,MOLECULAR PATHOLOGY AND STUDY OF COPPER TRANPORT.     Goto   Sponge   Distinct   Permalink

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
  • In the proposed project,the genetic causes and molecular pathology of Wilson disease will be addessed using molecular biology techniques.The structural and functional consequences of individual mutations on copper transporting protein will be studied. The aim of the study is to find mutations responsible for the Wilson disease (WD),to study mitochondrial DNA changes in WD,to improve diagnosis and therapy of WD and to clarify the processes of intracellular copper transport. (en)
  • V projektu budeme studovat genetické příčiny a molekulární patologii Wilsonovy choroby pomocí molekulárně biologických technik a studovat na modelové situaci důsledky jednotlivých mutací na strukturu a funkci měď transportujícího proteinu. Cílem studie je nalézt mutace odpovědné za onemocnění Wilsonovou chorobou,zlepšit diagnostiku a léčbu a objasnit procesy vnitrobuněčného transportu mědi a vliv na stárnutí mitochondriální DNA.
Title
  • WILSON DISEASE - GENETIC FACTORS,MOLECULAR PATHOLOGY AND STUDY OF COPPER TRANPORT. (en)
  • Wilsonova choroba: Genetické faktory,molekulární patologie a vnitrobuněčný transport mědi.
skos:notation
  • NE5994
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.../cep/klicovaSlova
  • Wilson disease;Copper transport;Cirrhosis;Genetic analysis;mutagenesis;ATP7B gene;Prevention;mitochondrial DNA (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...iciPoslednihoRoku
http://linked.open...atUdajeProjZameru
http://linked.open.../vavai/cep/soutez
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http://linked.open...jektu+dodavatelem
  • Vypracování jasné a jednoznačné strategie pro vedení DNA diagnostiky u jedinců se susp. Wilsonovou chorobou v ČR. J. Inherit. Metab. Dis. (IF 1,790). (cs)
http://linked.open...tniCyklusProjektu
http://linked.open.../cep/klicoveSlovo
  • Cirrhosis
  • Prevention
  • mutagenesis
  • Wilson disease
  • ATP7B gene
  • Copper transport
  • Genetic analysis
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