Associated Papers
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
Toyoda Y et al.
Rheumatology (oxford, England), 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S 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
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 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
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.
Sugihara S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
Ochi A et al.
Clinical and Experimental Nephrology, 2012
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
Ichida K et al.
Clinical Genetics, 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
Mutational analysis of idiopathic renal hypouricemia in Korea.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2005
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.
Wakida N et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
Ichida K et al.
Journal of the American Society of Nephrology : Jasn, 2004