4 results for “Jan Chandoga”

Research ArticleOpen accessIn the author namesFrequency of Single Nucleotide Polymorphisms of the SLCO1B1 Gene in Slavic Population of Central EuropeMichaela Mikulová, Veronika Kramarova, Ján ChandogaThe organic anion transporting polypeptide 1B1 (encoded by SLCO1B1 gene) is involved in the active cellular influx of diverse endogenous compounds and several drugs, such as HMG-CoA reductase inhibitors (statins). Two common polymorphisms c.388A>G and c.521T>C in SLCO1B1 alter transport activity of this transporter and play an important role in the pharmaceutical response to many drugs. The aim of our … …OnLine Journal of Biological Sciences, Vol. 16, Issue 4 · 11 Dec 2016 · 7,308 accessesView PDF Cite

Research ArticleOpen accessIn the author namesUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

Research ArticleOpen accessIn the author namesCASE REPORT OF A PATIENT WITH RARE P.ARG136CYS (APOE2*) MUTATION IN APOLIPOPROTEIN E GENEJana Lisyova, Jan Chandoga, Stanislav Oravec et al.Apolipoprotein E (apoE) is a polymorphic glycoprotein associated with plasma lipoproteins and plays an essential role in the metabolism and clearance of plasma lipids. ApoE can represent the major genetic risk factor in development of premature atherosclerosis, coronary heart disease and late-onset familial and sporadic Alzheimer’s Disease (AD). We present a case report of a 51-year old male with suspected … …OnLine Journal of Biological Sciences, Vol. 14, Issue 1 · 9 Jan 2014 · 7,295 accessesView PDF Cite