Eva Kraus

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 126 citations

Life Sciences, Genetics, Molecular Genetics +7

Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Miroslav Janošı́k, Jana Oliveriusová, Bohumila Janošı́ková et al. · The American Journal of Human Genetics · 2001 · 80 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations

Kenneth N. Maclean, Mette Gaustadnes, Jana Oliveriusová et al. · Human Mutation · 2002 · 73 citations

Life Sciences, Biochemistry, Genetics +17

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

Kenneth N. Maclean, Jakub Sikora, Viktor Kožich et al. · Molecular Genetics and Metabolism · 2010 · 70 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

Kenneth N. Maclean, Jakub Sikora, Viktor Kožich et al. · Molecular Genetics and Metabolism · 2010 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15