Project information
Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches
(EPICARD)
- Project Identification
- 2B08060
- Project Period
- 3/2008 - 12/2011
- Investor / Pogramme / Project type
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Ministry of Education, Youth and Sports of the CR
- Health and quality of life
- MU Faculty or unit
- Central European Institute of Technology
- Keywords
- Cardiovascular disorders, familial hypercholesterolemia, LDL receptor, cholesterol, aortic valve calcification, NOTCH1, DNA microarray, chromatin immunoprecipitation, real-time PCR, epigenetics, posttranslational modifications, mass spectrometry
- Cooperating Organization
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Centre for Cardiovascular and Transtplantation Surgary
- Responsible person prof. MUDr. Tomáš Freiberger, Ph.D.
- Responsible person doc. RNDr. Lenka Fajkusová, CSc.
The aim of the project is to introduce novel molecular-genetic, genomic and proteomic approaches in diagnostics of serious heart and vascular diseases.
Publications
Total number of publications: 20
2011
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Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias.
Year: 2011, type: Conference abstract
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Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcome
Year: 2011, type: Conference abstract
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The molecular diagnostics of familial hypercholesterolemia in Czech Republic.
Year: 2011, type: Conference abstract
2010
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Analýza sekvenčních změn v LDLR genu: od mutací k rozsáhlým přestavbám a zpět
Year: 2010, type: Conference abstract
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Detection of Cardiobacterium valvarum in patient with aortic valve infective endocarditis by broad-range PCR.
Journal of Medical Microbiology, year: 2010, volume: 59, edition: 2
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Familial Hypercholesterolemia in the Czech republic
Year: 2010, type: Conference abstract
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Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
BMC Medical Genetics, year: 2010, volume: 11, edition: 115
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CHARACTERISATION OF HUMAN HISTONE N TERMINAL ACETYLATIONS
Year: 2010, type: Conference abstract
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Výsledky molekulárně genetického vyšetření pacientů Dětské lipidové poradny Fakultní nemocnice Olomouc v rámci projektu MedPed
Česko - Slovenská Pediatrie, year: 2010, volume: 65, edition: 7-8
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Využití DNA čipu v molekulárně genetické diagnostice familiární hypercholesterolémie
Year: 2010, type: