Condition: Renal hypouricemia


rs1047976958 in SLC22A12 gene and Renal hypouricemia PMID 14694169 2004 Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

PMID 16837472 2007 Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

PMID 26418379 2015 Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

PMID 15327384 2004 A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

PMID 15912381 2005 Mutational analysis of idiopathic renal hypouricemia in Korea.

PMID 15634722 2005 Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.

PMID 12024214 2002 Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

PMID 23525542 2013 We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES.

PMID 19019168 2008 Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.

PMID 14655203 2003 Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.

PMID 18492088 2008 The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.

PMID 15912381 2005 W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.

PMID 15054642 2004 The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.

PMID 16703794 2006 Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.

PMID 21366895 2011 Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.

PMID 15741204 2005 Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation.

PMID 22045201 2012 A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.

PMID 17362586 2007 Rapid detection of R90H mutations in the human urate transporter 1 gene.

PMID 18492088 2008 Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.