Cargando…

Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels

Detalles Bibliográficos
Autores principales:	Higashino, Toshihide, Morimoto, Keito, Nakaoka, Hirofumi, Toyoda, Yu, Kawamura, Yusuke, Shimizu, Seiko, Nakamura, Takahiro, Hosomichi, Kazuyoshi, Nakayama, Akiyoshi, Ooyama, Keiko, Ooyama, Hiroshi, Shimizu, Toru, Ueno, Miki, Ito, Toshimitsu, Tamura, Takashi, Naito, Mariko, Nakashima, Hiroshi, Kawaguchi, Makoto, Takao, Mikiya, Kawai, Yosuke, Osada, Naoki, Ichida, Kimiyoshi, Yamamoto, Ken, Suzuki, Hiroshi, Shinomiya, Nariyoshi, Inoue, Ituro, Takada, Tappei, Matsuo, Hirotaka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Letter
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937405/ https://www.ncbi.nlm.nih.gov/pubmed/31780526 http://dx.doi.org/10.1136/annrheumdis-2019-216044

Ejemplares similares

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

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

Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk
por: Sakiyama, Masayuki, et al.
Publicado: (2017)

A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population
por: Akashi, Airi, et al.
Publicado: (2020)

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)

OAT10/SLC22A13 Acts as a Renal Urate Re-Absorber: Clinico-Genetic and Functional Analyses With Pharmacological Impacts
por: Toyoda, Yu, et al.
Publicado: (2022)

Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population
por: Kawaguchi, Makoto, et al.
Publicado: (2021)

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

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 rs671, a common variant of ALDH2, as a gout susceptibility locus
por: Sakiyama, Masayuki, 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)

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout
por: Kawamura, Yusuke, et al.
Publicado: (2019)

Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese
por: Sakiyama, Masayuki, et al.
Publicado: (2018)

Common variant of ALPK1 is not associated with gout: a replication study
por: Chiba, Toshinori, et al.
Publicado: (2014)

A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility
por: Nakayama, Akiyoshi, et al.
Publicado: (2013)

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes
por: Matsuo, Hirotaka, et al.
Publicado: (2016)

Common variants of a urate-associated gene LRP2 are not associated with gout susceptibility
por: Nakayama, Akiyoshi, et al.
Publicado: (2013)

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)

Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families
por: Kawamura, Yusuke, et al.
Publicado: (2020)

A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility
por: Chang, Shun-Jen, et al.
Publicado: (2022)

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

A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility
por: Sakiyama, Masayuki, et al.
Publicado: (2013)

Coffee Consumption Reduces Gout Risk Independently of Serum Uric Acid Levels: Mendelian Randomization Analyses Across Ancestry Populations
por: Shirai, Yuya, et al.
Publicado: (2022)

Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene
por: Nakayama, Akiyoshi, et al.
Publicado: (2021)

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

Dysfunctional ABCG2 gene polymorphisms are associated with serum uric acid levels and all-cause mortality in hemodialysis patients
por: Nakashima, Akio, et al.
Publicado: (2020)

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

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

Identification of ABCG2 as an Exporter of Uremic Toxin Indoxyl Sulfate in Mice and as a Crucial Factor Influencing CKD Progression
por: Takada, T., et al.
Publicado: (2018)

Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach
por: Ogura, Masatsune, et al.
Publicado: (2021)

A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals
por: Kawamura, Yusuke, et al.
Publicado: (2021)

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

ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout
por: Matsuo, Hirotaka, et al.
Publicado: (2015)

Vitamin C transporter SVCT1 serves a physiological role as a urate importer: functional analyses and in vivo investigations
por: Toyoda, Yu, 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)

Germline Variants of Prostate Cancer in Japanese Families
por: Hayano, Takahide, et al.
Publicado: (2016)

Clinical practice guideline for renal hypouricemia (1st edition)
por: Nakayama, Akiyoshi, et al.
Publicado: (2019)

Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity
por: Sakiyama, Masayuki, et al.
Publicado: (2021)

Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
por: Toyoda, Yu, et al.
Publicado: (2019)

SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout
por: Toyoda, Yu, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_k6cicdmd0d0jjv0427k62436a8