Cargando…
The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients
BACKGROUND: ABCG2 is a high-capacity urate transporter that plays a crucial role in renal urate overload and extra-renal urate underexcretion. Previous studies have suggested an association between hyperuricemia and gout susceptibility relative to dysfunctional ABCG2 variants, with rs2231142 (Q141K)...
Autores principales: | Stiburkova, Blanka, Pavelcova, Katerina, Pavlikova, Marketa, Ješina, Pavel, Pavelka, Karel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425717/ https://www.ncbi.nlm.nih.gov/pubmed/30894219 http://dx.doi.org/10.1186/s13075-019-1860-8 |
Ejemplares similares
-
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
por: Toyoda, Yu, et al.
Publicado: (2021) -
Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout
por: Horváthová, Veronika, et al.
Publicado: (2019) -
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
por: Kvasnička, Aleš, et al.
Publicado: (2023) -
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
por: Toyoda, Yu, et al.
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, et al.
Publicado: (2020)