Circulating microRNA alternations in primary hyperuricemia and gout

by Jana Bohatá, Veronika Horváthová, Markéta Pavlíková, Blanka Stibůrková
Published 2021-07-01

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration.

by Blanka Stibůrková, Markéta Pavlíková, Jitka Sokolová, Viktor Kožich
Published 2014-01-01

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

by Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova
Published 2018-06-01

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

by Blanka Stiburkova, Katerina Pavelcova, Marketa Pavlikova, Pavel Ješina, Karel Pavelka
Published 2019-03-01

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

by Yu Toyoda, Sung Kweon Cho, Sung Kweon Cho, Velibor Tasic, Kateřina Pavelcová, Jana Bohatá, Hiroshi Suzuki, Victor A. David, Jaeho Yoon, Anna Pallaiova, Jana Šaligová, Darryl Nousome, Raul Cachau, Cheryl A. Winkler, Tappei Takada, Blanka Stibůrková, Blanka Stibůrková, Blanka Stibůrková
Published 2023-01-01

Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2

by Yu Toyoda, Kateřina Pavelcová, Martin Klein, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Published 2019-10-01

Functional Characterization of Rare Variants in OAT1/<i>SLC22A6</i> and OAT3/<i>SLC22A8</i> Urate Transporters Identified in a Gout and Hyperuricemia Cohort

by Jiří Vávra, Andrea Mančíková, Kateřina Pavelcová, Lenka Hasíková, Jana Bohatá, Blanka Stibůrková
Published 2022-03-01

Evaluation of the Influence of Genetic Variants of <i>SLC2A9</i> (GLUT9) and <i>SLC22A12</i> (URAT1) on the Development of Hyperuricemia and Gout

by Katerina Pavelcova, Jana Bohata, Marketa Pavlikova, Eliska Bubenikova, Karel Pavelka, Blanka Stiburkova
Published 2020-08-01

Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect o...

by Olha Hurba, Andrea Mancikova, Vladimir Krylov, Marketa Pavlikova, Karel Pavelka, Blanka Stibůrková
Published 2014-01-01

Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia

by Blanka Stiburkova, Jana Bohata, Iveta Minarikova, Andrea Mancikova, Jiri Vavra, Vladimír Krylov, Zdenek Doležel
Published 2019-08-01

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout

by Yu Toyoda, Kateřina Pavelcová, Jana Bohatá, Pavel Ješina, Yu Kubota, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Published 2021-02-01

Interleukin-37: associations of plasma levels and genetic variants in gout

by Lucie Andres Cerezo, Adéla Navrátilová, Hana Hulejová, Markéta Pavlíková, Jakub Závada, Karel Pavelka, Ladislav Šenolt, Blanka Stiburkova
Published 2023-10-01

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

by Blanka Stiburkova, Jana Bohatá, Kateřina Pavelcová, Velibor Tasic, Dijana Plaseska-Karanfilska, Sung-Kweon Cho, Ludmila Potočnaková, Jana Šaligová
Published 2021-11-01

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia

by Daisuke Miyamoto, Nana Sato, Koji Nagata, Yukinao Sakai, Hitoshi Sugihara, Yuki Ohashi, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Ken Okamoto
Published 2022-07-01

Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment

by Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlíková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelka, Pavel Ješina, Blanka Stibůrková
Published 2023-12-01

Functional Characterization of Clinically-Relevant Rare Variants in <i>ABCG2</i> Identified in a Gout and Hyperuricemia Cohort

by Yu Toyoda, Andrea Mančíková, Vladimír Krylov, Keito Morimoto, Kateřina Pavelcová, Jana Bohatá, Karel Pavelka, Markéta Pavlíková, Hiroshi Suzuki, Hirotaka Matsuo, Tappei Takada, Blanka Stiburkova
Published 2019-04-01

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

by Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
Published 2017-09-01

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

by Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Published 2022-12-01