Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
Misawa K et al.
Genetics, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans.
Im SW et al.
Plos One, 2020
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha DH et al.
Scientific Reports, 2019
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Mancikova A et al.
Clinical and Experimental Nephrology, 2016
A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review.
Kim HO et al.
Electrolyte & Blood Pressure : E & Bp, 2015
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
Gabrikova D et al.
Urolithiasis, 2015
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Stiburkova B et al.
The American Journal of the Medical Sciences, 2015
Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease.
Yakut S et al.
Rheumatology International, 2013
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Stiburkova B et al.
European Journal of Human Genetics : Ejhg, 2013
Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.
Kaito H et al.
American Journal of Nephrology, 2013
Clinical and functional characterization of URAT1 variants.
Tasic V et al.
Plos One, 2011
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
Lee JH et al.
Nephrology (carlton, Vic.), 2008
Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.
Tzovaras V et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2007
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
Komatsuda A et al.
Renal Failure, 2006
Mutational analysis of idiopathic renal hypouricemia in Korea.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2005
A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.
Iwai N et al.
Kidney International, 2004