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List of works by Seiko Shimizu

A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout

scientific article

ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload

scientific article published on 20 January 2014

Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

scientific article published on January 2013

Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors

scientific article published on 09 June 2014

Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility

scientific article published on 29 August 2013

Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility

scientific article

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

scientific article published on 29 November 2016

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes

scientific article published on 2 February 2015

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

scientific article published on 8 July 2019

Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals

scientific article published on 08 April 2019

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2

scientific article published on 01 January 2014

Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk

scientific article

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

scientific article published on 1 April 2020

The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.

scientific article published on 29 January 2016

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