Two independent mutational events in the loss of urate oxidase during hominoid evolution, J Mol Evol, vol.34, pp.78-84, 1992. ,
New insights into renal transport of urate, Current Opinion in Rheumatology, vol.19, pp.151-157, 2007. ,
Recent insights into the pathogenesis of hyperuricaemia and gout, Hum Mol Genet, vol.18, pp.177-184, 2009. ,
Evaluation of the diet wide contribution to serum urate levels: metaanalysis of population based cohorts, BMJ, vol.363, p.3951, 2018. ,
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations, Nat Genet, vol.45, pp.145-154, 2013. ,
Inherited disorders of uric acid metabolism-classification, enzymatic-and DNA-diagnosis]. Nihon rinsho, Japanese journal of clinical medicine, vol.54, pp.3303-3308, 1996. ,
Diagnostic tests for primary renal hypouricemia, Nucleosides Nucleotides Nucleic Acids, vol.30, pp.1112-1116, 2011. ,
Mutational analysis of idiopathic renal hypouricemia in Korea, Pediatr. Nephrol, vol.20, pp.886-890, 2005. ,
In addition to malnutrition and renal function impairment, anemia is associated with hyponatremia in the elderly, Arch. Gerontol. Geriatr, vol.55, pp.77-81, 2012. ,
Molecular identification of a renal urate anion exchanger that regulates blood urate levels, Nature, vol.417, pp.447-452, 2002. ,
Acute kidney injury in two children caused by renal hypouricaemia type 2, Pediatr. Nephrol, vol.27, pp.1411-1415, 2012. ,
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews, Nephrol. Dial. Transplant, vol.26, pp.2175-2181, 2011. ,
Clinical and functional characterization of URAT1 variants, PLoS One, vol.6, pp.28641-28641, 2011. ,
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis, Eur. J. Hum. Genet, vol.21, pp.1067-1073, 2013. ,
Hereditary renal hypouricemia: a new role for allopurinol?, Am. J. Med, vol.127, pp.3-4, 2014. ,
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion, Journal of the American Society of Nephrology, vol.15, pp.164-173, 2004. ,
Expression, Purification, and Structural Insights for the Human Uric Acid Transporter, GLUT9, Using the Xenopus laevis Oocytes System, Plos One, vol.9, 2014. ,
A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese, Kidney Int, vol.66, pp.935-944, 2004. ,
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese, Clin. Genet, vol.74, pp.243-251, 2008. ,
, Scientific RepoRtS |, vol.9, p.14360, 2019.
A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout, Arthritis & rheumatism, vol.52, pp.2576-2577, 2005. ,
Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in Japan, Plos One, vol.12, 2017. ,
Decreased renal clearance of xanthine and hypoxanthine in a patient with renal hypouricemia: a new defect in renal handling of purines, Nephron, vol.61, pp.428-431, 1992. ,
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia, Am. J. Nephrol, vol.43, pp.245-250, 2016. ,
Rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricaemia 3 months after kidney transplantation, Nephrology (Carlton), vol.21, issue.1, pp.67-71, 2016. ,
Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia, Circ. J, vol.79, pp.1125-1132, 2015. ,
A novel homozygous GLUT9 mutation cause recurrent exercise-induced acute renal failure and posterior reversible encephalopathy syndrome, J. Nephrol, vol.28, pp.387-392, 2015. ,
Variation in the uric acid transporter gene SLC2A9 and its association with AAO of Parkinson's disease, J. Mol. Neurosci, vol.43, pp.246-250, 2011. ,
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels, Nature Communications, vol.9, 2018. ,
Cohort Profile: The Korean Genome and Epidemiology Study (KoGES) Consortium, Int. J. Epidemiol, vol.46, 1350. ,
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1, BMJ open, vol.5, pp.9360-009360, 2015. ,
Hereditary renal hypouricemia, Mol. Genet. Metab, vol.89, pp.14-18, 2006. ,
A method and server for predicting damaging missense mutations, Nat Methods, vol.7, pp.248-249, 2010. ,
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat Protoc, vol.4, pp.1073-1081, 2009. ,
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel, Am J Hum Genet, vol.88, pp.440-449, 2011. ,
MutationTaster2: mutation prediction for the deep-sequencing age, Nat Methods, vol.11, pp.361-362, 2014. ,
Toward the estimation of the absolute quality of individual protein structure models, Bioinformatics, vol.27, pp.343-350, 2011. ,
Molecular basis of ligand recognition and transport by glucose transporters, Nature, vol.526, pp.391-396, 2015. ,
Structure and mechanism of the mammalian fructose transporter GLUT5, Nature, vol.526, pp.397-401, 2015. ,
The I-TASSER Suite: protein structure and function prediction, Nat. Methods, vol.12, pp.7-8, 2015. ,
Novel procedure for structure refinement in homology modeling and its application to the human class Mu glutathione S-transferases, Protein Eng, vol.7, pp.831-839, 1994. ,
Scalable molecular dynamics with NAMD, J Comput Chem, vol.26, pp.1781-1802, 2005. ,