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

por Stiburkova, Blanka, Pavelcova, Katerina, Pavlikova, Marketa, Ješina, Pavel, Pavelka, Karel
Publicado 2019

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

por Toyoda, Yu, Pavelcová, Kateřina, Klein, Martin, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Publicado 2019

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

por Pavelcova, Katerina, Bohata, Jana, Pavlikova, Marketa, Bubenikova, Eliska, Pavelka, Karel, Stiburkova, Blanka
Publicado 2020

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

por Vávra, Jiří, Mančíková, Andrea, Pavelcová, Kateřina, Hasíková, Lenka, Bohatá, Jana, Stibůrková, Blanka
Publicado 2022

Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout

por Horváthová, Veronika, Bohatá, Jana, Pavlíková, Markéta, Pavelcová, Kateřina, Pavelka, Karel, Šenolt, Ladislav, Stibůrková, Blanka
Publicado 2019

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

por Toyoda, Yu, Pavelcová, Kateřina, Bohatá, Jana, Ješina, Pavel, Kubota, Yu, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Publicado 2021

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

por Stiburkova, Blanka, Bohatá, Jana, Pavelcová, Kateřina, Tasic, Velibor, Plaseska-Karanfilska, Dijana, Cho, Sung-Kweon, Potočnaková, Ludmila, Šaligová, Jana
Publicado 2021

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

por Kvasnička, Aleš, Friedecký, David, Brumarová, Radana, Pavlíková, Markéta, Pavelcová, Kateřina, Mašínová, Jana, Hasíková, Lenka, Závada, Jakub, Pavelka, Karel, Ješina, Pavel, Stibůrková, Blanka
Publicado 2023

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

por Toyoda, Yu, Mančíková, Andrea, Krylov, Vladimír, Morimoto, Keito, Pavelcová, Kateřina, Bohatá, Jana, Pavelka, Karel, Pavlíková, Markéta, Suzuki, Hiroshi, Matsuo, Hirotaka, Takada, Tappei, Stiburkova, Blanka
Publicado 2019

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

por 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
Publicado 2023