检索结果 - Kožich, Viktor

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC–MS/MS and evaluation of their stability in mice tissues 由 Krijt, Jakub, Dutá, Alena, Kožich, Viktor

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Foreword to special issue on homocysteine disorders 由 Fowler, Brian, Blom, Henk J., Kožich, Viktor

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Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones 由 Kopecká, Jana, Krijt, Jakub, Raková, Kateřina, Kožich, Viktor

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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts 由 Hnízda, Aleš, Jurga, Vojtěch, Raková, Kateřina, Kožich, Viktor

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Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration 由 Stibůrková, Blanka, Pavlíková, Markéta, Sokolová, Jitka, Kožich, Viktor

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Chemical chaperone rescue of mutant human cystathionine β-synthase 由 Singh, Laishram R., Chen, Xulin, Kožich, Viktor, Kruger, Warren D.

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Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1 由 Vozdek, Roman, Hnízda, Aleš, Krijt, Jakub, Kostrouchová, Marta, Kožich, Viktor

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Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1 由 Kepp, Katrin, Juhanson, Peeter, Kozich, Viktor, Ots, Mai, Viigimaa, Margus, Laan, Maris

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Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene 由 Janošík, Miroslav, Sokolová, Jitka, Janošíková, Bohumila, Krijt, Jakub, Klatovská, Veronika, Kožich, Viktor

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations 由 Poupětová, Helena, Ledvinová, Jana, Berná, Linda, Dvořáková, Lenka, Kožich, Viktor, Elleder, Milan

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Vascular presentation of cystathionine beta-synthase deficiency in adulthood 由 Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor

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Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice 由 Gupta, Sapna, Wang, Liqun, Hua, Xiang, Krijt, Jakub, Kožich, Viktor, Kruger, Warren D.

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Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling 由 Hnízda, Aleš, Spiwok, Vojtěch, Jurga, Vojtěch, Kožich, Viktor, Kodíček, Milan, Kraus, Jan P.

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The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homoc... 由 Homolova, Katerina, Zavadakova, Petra, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Kozich, Viktor, Andresen, Brage S

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Metabolism of sulfur compounds in homocystinurias 由 Kožich, Viktor, Ditrói, Tamás, Sokolová, Jitka, Křížková, Michaela, Krijt, Jakub, Ješina, Pavel, Nagy, Peter

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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria 由 Janošík, Miroslav, Oliveriusová, Jana, Janošíková, Bohumila, Sokolová, Jitka, Kraus, Eva, Kraus, Jan P., Kožich, Viktor

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The Cysteine Dioxgenase Knockout Mouse: Altered Cysteine Metabolism in Nonhepatic Tissues Leads to Excess H(2)S/HS(−) Production and Evidence of Pancreatic and Lung Toxicity 由 Roman, Heather B., Hirschberger, Lawrence L., Krijt, Jakub, Valli, Alessandro, Kožich, Viktor, Stipanuk, Martha H.

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Factors Influencing Parental Awareness about Newborn Screening 由 Franková, Věra, Dohnalová, Alena, Pešková, Karolína, Hermánková, Renata, O’Driscoll, Riona, Ješina, Pavel, Kožich, Viktor

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Informing Parents about Newborn Screening: A European Comparison Study 由 IJzebrink, Amber, van Dijk, Tessa, Franková, Věra, Loeber, Gerard, Kožich, Viktor, Henneman, Lidewij, Jansen, Marleen

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CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs 由 Putku, Margus, Kals, Mart, Inno, Rain, Kasela, Silva, Org, Elin, Kožich, Viktor, Milani, Lili, Laan, Maris

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