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Jitka Sokolová

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Czech Republic

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Michal Pravenec; Jan Silhavy; Miroslava Simáková; Jitka Sokolová; Václav Zídek; Ludmila Kazdová; Viktor Kozich; Jan Krijt; Vladimir Landa; Petr Mlejnek; Olena Oliyarnyk; Theodore W Kurtz
Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats.
Tomáš Honzík; Pavel Ješina; Ivo Barić; Lenka Bauerová; Robert Belužić; Milan Elleder; Hana Hansíkova; Jan Krijt; Martin Magner; Nina Ondrušková; Jitka Sokolová; Kateřina Veselá; Oliver Vugrek; Jiří Zeman; Viktor Kožich
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Markéta Pavlíková; Jitka Sokolová; Jana Zvárová; Bohumila Janosíková; Lucie Krupková; Petra Melenovská; Viktor Kozich
Rare allelic variants determine folate status in an unsupplemented European population.

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All Publications

2013: Michal Pravenec; Jan Silhavy; Miroslava Simáková; Jitka Sokolová; Václav Zídek; Ludmila Kazdová; Viktor Kozich; Jan Krijt; Vladimir Landa; Petr Mlejnek; Olena Oliyarnyk; Theodore W Kurtz
Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats.
American journal of hypertension 2013;26(1):135-40.
2012: Tomáš Honzík; Pavel Ješina; Ivo Barić; Lenka Bauerová; Robert Belužić; Milan Elleder; Hana Hansíkova; Jan Krijt; Martin Magner; Nina Ondrušková; Jitka Sokolová; Kateřina Veselá; Oliver Vugrek; Jiří Zeman; Viktor Kožich
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Molecular genetics and metabolism 2012;107(3):611-3.
2012: Markéta Pavlíková; Jitka Sokolová; Jana Zvárová; Bohumila Janosíková; Lucie Krupková; Petra Melenovská; Viktor Kozich
Rare allelic variants determine folate status in an unsupplemented European population.
The Journal of nutrition 2012;142(8):1403-9.
2010: Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jan Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Human mutation 2010;31(7):809-19.
2009: Miroslav Janosík; Jitka Sokolová; Bohumila Janosíková; Jan Krijt; Veronika Klatovská; Viktor Kozich
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.
The Journal of pediatrics 2009;154(3):431-7.
2007: Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Human mutation 2007;28(3):255-64.
2004: Marek Orendáè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka Sokolová; Michael Linnebank; Hans Georg Koch; Viktor Kozich
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Human mutation 2004;23(6):631.
2001: Jitka Sokolová; Bohumila Janosíková; Joseph D Terwilliger; T Freiberger; Jan P Kraus; Viktor Kozich
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Human mutation 2001;18(6):548-9.
2001: Miroslav Janosík; Jana Oliveriusová; Bohumila Janosíková; Jitka Sokolová; Eva Kraus; Jan P Kraus; Viktor Kozich
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
American journal of human genetics 2001;68(6):1506-13.
1998: Jan P Kraus; Jana Oliveriusová; Jitka Sokolová; Eva Kraus; Cestmir Vlcek; Raffaella de Franchis; Kenneth N Maclean; L Bao; D Patterson; Václav Paces; Wilhelm Ansorge; Viktor Kozich
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
Genomics 1998;52(3):312-24.
1997: Viktor Kozich; Miroslav Janosík; Jitka Sokolová; Jana Oliveriusová; M Orendác; Jan P Kraus; Daniel Elleder
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Journal of inherited metabolic disease 1997;20(3):363-6.
1997: Milan Elleder; Jitka Sokolová; Martin Hrebícek
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
Acta neuropathologica 1997;93(4):379-90.
1996: Martin Hrebícek; Jirí Zeman; J Musilová; Katerina Hodanová; G Herma Renkema; L Vepreková; Jana Ledvinová; D Hrebícek; Jitka Sokolová; johannes aerts; Milan Elleder
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
Virchows Archiv : an international journal of pathology 1996;429(4-5):305-9.
1996: M D Roper; J R Straubhaar; Eva Kraus; Jitka Sokolová; Martin Hrebícek; Jan P Kraus
Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(10):754-7.