Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
Toyoda, Yu, Pavelcová, Kateřina, Bohatá, Jana, Ješina, Pavel, Kubota, Yu, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Published in International journal of molecular sciences (16.02.2021)
Published in International journal of molecular sciences (16.02.2021)
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Journal Article
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
Kvasnička, Aleš, Friedecký, David, Brumarová, Radana, Pavlíková, Markéta, Pavelcová, Kateřina, Mašínová, Jana, Hasíková, Lenka, Závada, Jakub, Pavelka, Karel, Ješina, Pavel, Stibůrková, Blanka
Published in Arthritis research & therapy (02.12.2023)
Published in Arthritis research & therapy (02.12.2023)
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Journal Article
Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
Toyoda, Yu, Pavelcová, Kateřina, Klein, Martin, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Published in Arthritis research & therapy (28.10.2019)
Published in Arthritis research & therapy (28.10.2019)
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Journal Article
Identification of a dysfunctional exon-skipping splice variant in GLUT9 / SLC2A9 causal for renal hypouricemia type 2
Toyoda, Yu, Cho, Sung Kweon, Tasic, Velibor, Pavelcová, Kateřina, Bohatá, Jana, Suzuki, Hiroshi, David, Victor A, Yoon, Jaeho, Pallaiova, Anna, Šaligová, Jana, Nousome, Darryl, Cachau, Raul, Winkler, Cheryl A, Takada, Tappei, Stibůrková, Blanka
Published in Frontiers in genetics (17.01.2023)
Published in Frontiers in genetics (17.01.2023)
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Journal Article
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
Toyoda, Yu, Mančíková, Andrea, Krylov, Vladimír, Morimoto, Keito, Pavelcová, Kateřina, Bohatá, Jana, Pavelka, Karel, Pavlíková, Markéta, Suzuki, Hiroshi, Matsuo, Hirotaka, Takada, Tappei, Stiburkova, Blanka
Published in Cells (Basel, Switzerland) (18.04.2019)
Published in Cells (Basel, Switzerland) (18.04.2019)
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Journal Article
Functional Characterization of Rare Variants in OAT1/ SLC22A6 and OAT3/ SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort
Vávra, Jiří, Mančíková, Andrea, Pavelcová, Kateřina, Hasíková, Lenka, Bohatá, Jana, Stibůrková, Blanka
Published in Cells (Basel, Switzerland) (22.03.2022)
Published in Cells (Basel, Switzerland) (22.03.2022)
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Journal Article
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
Stiburkova, Blanka, Bohatá, Jana, Pavelcová, Kateřina, Tasic, Velibor, Plaseska-Karanfilska, Dijana, Cho, Sung-Kweon, Potočnaková, Ludmila, Šaligová, Jana
Published in Biomedicines (03.11.2021)
Published in Biomedicines (03.11.2021)
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Journal Article
Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout
Horváthová, Veronika, Bohatá, Jana, Pavlíková, Markéta, Pavelcová, Kateřina, Pavelka, Karel, Šenolt, Ladislav, Stibůrková, Blanka
Published in Journal of clinical medicine (14.11.2019)
Published in Journal of clinical medicine (14.11.2019)
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Journal Article
Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout
Vávra, Jiří, Pavelcová, Kateřina, Mašínová, Jana, Hasíková, Lenka, Bubeníková, Eliška, Urbanová, Aneta, Mančíková, Andrea, Stibůrková, Blanka
Published in Disease markers (2024)
Published in Disease markers (2024)
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Journal Article
Functional non-synonymous variants of ABCG2 and gout risk
Stiburkova, Blanka, Pavelcova, Katerina, Zavada, Jakub, Petru, Lenka, Simek, Pavel, Cepek, Pavel, Pavlikova, Marketa, Matsuo, Hirotaka, Merriman, Tony R, Pavelka, Karel
Published in Rheumatology (Oxford, England) (01.11.2017)
Published in Rheumatology (Oxford, England) (01.11.2017)
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Journal Article
Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout
Pavelcova, Katerina, Bohata, Jana, Pavlikova, Marketa, Bubenikova, Eliska, Pavelka, Karel, Stiburkova, Blanka
Published in Journal of clinical medicine (04.08.2020)
Published in Journal of clinical medicine (04.08.2020)
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Journal Article
Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome
Stiburkova, Blanka, Pavelcova, Katerina, Belickova, Monika, Magaziner, Samuel J., Collins, Jason C., Werner, Achim, Beck, David B., Balajkova, Veronika, Salek, Cyril, Vostry, Martin, Mann, Herman, Vencovsky, Jiri
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2023)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2023)
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Journal Article
07.05Detection of polymorphisms in genes associated with azathioprine toxicity
Pavelcova, Katerina, Petru, Lenka, Stiburkova, Blanka
Published in Annals of the rheumatic diseases (01.03.2017)
Published in Annals of the rheumatic diseases (01.03.2017)
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Journal Article
07.05 Detection of polymorphisms in genes associated with azathioprine toxicity
Pavelcova, Katerina, Petru, Lenka, Stiburkova, Blanka
Published in Annals of the rheumatic diseases (01.03.2017)
Published in Annals of the rheumatic diseases (01.03.2017)
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Journal Article
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R
Pavelcova, Katerina, Hanova, Petra, Ciferska, Hana, Hasikova, Lenka, Stiburkova, Blanka
Published in Journal of clinical rheumatology (01.03.2022)
Published in Journal of clinical rheumatology (01.03.2022)
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Journal Article
An Unusual Cause of Exercise-Induced Acute Kidney Injury
Quan, Virginia, Ali, Omer, Pavelcova, Katerina, Harris, Fiona, Stiburkova, Blanka
Published in The American journal of medicine (01.04.2018)
Published in The American journal of medicine (01.04.2018)
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Journal Article
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout
Petru, Lenka, Pavelcova, Katerina, Sebesta, Ivan, Stiburkova, Blanka
Published in Clinica chimica acta (01.09.2016)
Published in Clinica chimica acta (01.09.2016)
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Journal Article
05.04 Functional polymorphisms of the abcg2 gene in primary gout
Stiburkova, Blanka, Pavelcova, Katerina, Petru, Lenka, Cepek, Pavel, Zavada, Jakub, Pavelka, Karel
Published in Annals of the rheumatic diseases (01.03.2017)
Published in Annals of the rheumatic diseases (01.03.2017)
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