Cargando…

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

Detalles Bibliográficos
Autores principales:	Toyoda, Yu, Pavelcová, Kateřina, Klein, Martin, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Letter
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819377/ https://www.ncbi.nlm.nih.gov/pubmed/31661014 http://dx.doi.org/10.1186/s13075-019-2007-7

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)

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients
por: Stiburkova, Blanka, et al.
Publicado: (2019)

Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
por: Toyoda, Yu, 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)

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)

Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort
por: Vávra, Jiří, et al.
Publicado: (2022)

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)

ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload
por: Matsuo, Hirotaka, et al.
Publicado: (2014)

Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2
por: Matsuo, Hirotaka, et al.
Publicado: (2016)

Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout
por: Wrigley, Rebekah, et al.
Publicado: (2020)

Immunohistochemical and in situ hybridization study of urate transporters GLUT9/URATv1, ABCG2, and URAT1 in the murine brain
por: Tomioka, Naoko H., et al.
Publicado: (2016)

Circulating microRNA alternations in primary hyperuricemia and gout
por: Bohatá, Jana, et al.
Publicado: (2021)

Identification of GLUT12/SLC2A12 as a urate transporter that regulates the blood urate level in hyperuricemia model mice
por: Toyoda, Yu, et al.
Publicado: (2020)

Multiple common and rare variants of ABCG2 cause gout
por: Higashino, Toshihide, et al.
Publicado: (2017)

Genetic polymorphisms and decreased protein expression of ABCG2 urate transporters are associated with susceptibility to gout, disease severity and renal-overload hyperuricemia
por: Pálinkás, Márton, et al.
Publicado: (2022)

The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion
por: Hoque, Kazi Mirajul, et al.
Publicado: (2020)

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 on Hyperuricemia and Gout
por: Hurba, Olha, et al.
Publicado: (2014)

Common dysfunctional variants in ABCG2 are a major cause of early-onset gout
por: Matsuo, Hirotaka, et al.
Publicado: (2013)

Inhibitory effect of Citrus flavonoids on the in vitro transport activity of human urate transporter 1 (URAT1/SLC22A12), a renal re-absorber of urate
por: Toyoda, Yu, et al.
Publicado: (2020)

ABCG5 and ABCG8 Are Involved in Vitamin K Transport
por: Matsuo, Michinori, et al.
Publicado: (2023)

The Role of ABCG2 in the Pathogenesis of Primary Hyperuricemia and Gout—An Update
por: Eckenstaler, Robert, et al.
Publicado: (2021)

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
por: Nakayama, Akiyoshi, et al.
Publicado: (2017)

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
por: Toyoda, Yu, et al.
Publicado: (2023)

Inhibitors of Human ABCG2: From Technical Background to Recent Updates With Clinical Implications
por: Toyoda, Yu, et al.
Publicado: (2019)

Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12
por: Toyoda, Yu, et al.
Publicado: (2021)

SVCT2/SLC23A2 is a sodium-dependent urate transporter: functional properties and practical application
por: Toyoda, Yu, et al.
Publicado: (2023)

The urate-lowering efficacy and safety of febuxostat in the treatment of the hyperuricemia of gout: the CONFIRMS trial
por: Becker, Michael A, et al.
Publicado: (2010)

Variation of Urate Transport in the Nephrons in Subtypes of Hyperuricemia
por: Nakamura, Toru, et al.
Publicado: (2013)

Decreased extra-renal urate excretion is a common cause of hyperuricemia
por: Ichida, Kimiyoshi, et al.
Publicado: (2012)

Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors
por: Nakayama, Akiyoshi, et al.
Publicado: (2014)

Molecular Elucidation of a Urate Oxidase from Deinococcus radiodurans for Hyperuricemia and Gout Therapy
por: Chiu, Yi-Chih, et al.
Publicado: (2021)

ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study
por: Chen, Chung-Jen, et al.
Publicado: (2018)

Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout
por: Dong, Zheng, et al.
Publicado: (2020)

Identification of Inhibitory Activities of Dietary Flavonoids against URAT1, a Renal Urate Re-Absorber: In Vitro Screening and Fractional Approach Focused on Rooibos Leaves
por: Toyoda, Yu, et al.
Publicado: (2022)

Omega-3 Polyunsaturated Fatty Acids Inhibit the Function of Human URAT1, a Renal Urate Re-absorber
por: Saito, Hiroki, et al.
Publicado: (2020)

Discovery and characterization of verinurad, a potent and specific inhibitor of URAT1 for the treatment of hyperuricemia and gout
por: Tan, Philip K., et al.
Publicado: (2017)

The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression
por: Sakiyama, Masayuki, et al.
Publicado: (2016)

Identification of Febuxostat as a New Strong ABCG2 Inhibitor: Potential Applications and Risks in Clinical Situations
por: Miyata, Hiroshi, et al.
Publicado: (2016)

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients
por: Nakayama, Akiyoshi, et al.
Publicado: (2020)

Effects of Osthol Isolated from Cnidium monnieri Fruit on Urate Transporter 1
por: Tashiro, Yuusuke, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_g9asjh1ua358dfnqiet4chfu2p