Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Molecular Genetics and Metabolism

• Publication date

  2011-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ymgme.2010.12.016PMID 21256783
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Homozygous SLC2A9 mutations cause severe renal hypouricemia.

  2010cited by this paper
• Human Sodium Phosphate Transporter 4 (hNPT4/SLC17A3) as a Common Renal Secretory Pathway for Drugs and Urate*

  2010cited by this paper
• Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Māori, Pacific Island, and Caucasian case-control sample sets.

  2009cited by this paper
• Comparisons of cystatin C with creatinine for evaluation of renal function in chronic kidney disease

  2009cited by this paper
• Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout

  2009cited by this paper
• Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli–Arab family

  2009cited by this paper
• SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

  2008cited by this paper
• Multiple organic anion transporters contribute to net renal excretion of uric acid.

  2008cited by this paper
• SLC2A9 Is a High-Capacity Urate Transporter in Humans

  2008cited by this paper
• Gout and the risk of Parkinson's disease: a cohort study.

  2008cited by this paper
• Plasma Urate Level Is Directly Regulated by a Voltage-driven Urate Efflux Transporter URATv1 (SLC2A9) in Humans*

  2008cited by this paper
• Control of renal uric acid excretion and gout

  2008cited by this paper
• Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

  2008influential reference
• Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.

  2008cited by this paper
• Identification of a New Urate and High Affinity Nicotinate Transporter, hOAT10 (SLC22A13)*

  2008cited by this paper
• SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

  2008cited by this paper
• Gout and risk of Parkinson disease

  2007cited by this paper
• New insights into renal transport of urate

  2007cited by this paper
• Analysis of Mutations in the Urate Transporter 1 (URAT1) Gene of Japanese Patients with Hypouricemia in Northern Japan and Review of the Literature

  2006influential reference
• Serum uric acid levels and the risk of Parkinson disease

  2005cited by this paper
• Uric acid and oxidative stress.

  2005cited by this paper
• Human organic anion transporter MRP4 (ABCC4) is an efflux pump for the purine end metabolite urate with multiple allosteric substrate binding sites.

  2005cited by this paper
• Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.

  2005cited by this paper
• Identification and Characterization of Human Glucose Transporter-like Protein-9 (GLUT9)

  2004cited by this paper
• Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

  2004cited by this paper
• The Multivalent PDZ Domain-containing Protein PDZK1 Regulates Transport Activity of Renal Urate-Anion Exchanger URAT1 via Its C Terminus*

  2004cited by this paper
• Identification of a Novel Voltage-driven Organic Anion Transporter Present at Apical Membrane of Renal Proximal Tubule*

  2003cited by this paper
• Serum uric acid and multiple sclerosis

  2002cited by this paper
• Uric acid, hominoid evolution, and the pathogenesis of salt-sensitivity.

  2002cited by this paper
• Molecular identification of a renal urate–anion exchanger that regulates blood urate levels

  2002cited by this paper
• Observations on serum uric acid levels and the risk of idiopathic Parkinson's disease.

  1996cited by this paper
• A microdissection library of the rat renal carcinoma gene region.

  1995cited by this paper
• Arginine vasopressin produces renal vasodilation via V2 receptors in conscious dogs.

  1993cited by this paper
• Uric acid provides an antioxidant defense in humans against oxidant- and radical-caused aging and cancer: a hypothesis.

  1981cited by this paper

• Renal Hypouricemia Type 2 due to a Novel Homozygous SLC2A9 Variant: Exercise‐Induced Acute Kidney Injury in One of Two Affected Siblings

  2026cites this paper
• URAT1 and GLUT9 as drug targets in gout: progress in transporter-directed therapies and delivery technologies

  2025cites this paper
• [Uric Acid Metabolism, Uric Acid Transporters and Dysuricemia].

  2024cites this paper
• Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

  2023cites this paper
• Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review

  2023cites this paper
• New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

  2023cites this paper
• Alteration of Gut Microbiome and Correlated Amino Acid Metabolism Contribute to Hyperuricemia and Th17-Driven Inflammation in Uox-KO Mice

  2022cites this paper
• Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants

  2022cites this paper
• Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout

  2021cites this paper
• Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

  2021cites this paper
• Identification of Two Novel Heterozygous SLC2A9 Mutations in a Chinese Woman and Review of Literature.

  2021cites this paper
• Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

  2020cites this paper
• Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation

  2020cites this paper
• Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia

  2019cites this paper
• Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects

  2019cites this paper
• Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report

  2019cites this paper
• Hypouricemia: what the practicing rheumatologist should know about this condition

  2019cites this paper
• Learning Physiology From Inherited Kidney Disorders.

  2019cites this paper
• A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

  2018cites this paper
• Urate levels predict survival in amyotrophic lateral sclerosis: Analysis of the expanded Pooled Resource Open‐Access ALS clinical trials database

  2018cites this paper
• Unexpected high plasma xanthine oxidoreductase activity in female subjects with low levels of uric acid.

  2018cites this paper
• Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout

  2018cites this paper
• Genetic predisposition to hypouricemia on whole-exome sequencing analysis and its utilities in primary screening purposes

  2018cites this paper
• The Single Nucleotide Polymorphism rs1014290 of the SLC2A9 Gene Is Associated with Uric Acid Metabolism in Parkinson's Disease

  2017cites this paper
• The genetics of gout: towards personalised medicine?

  2017cites this paper
• Genomic Influences on Hyperuricemia and Gout.

  2017cites this paper
• Urate Levels Predict Survival in ALS: Analysis of the Expanded PRO-ACT Database

  2017cites this paper
• Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in Japan

  2017cites this paper
• Experiencing Gout in New Zealand: The Genetic and Dietary Influences of a Complex Disease.

  2016cites this paper
• Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2

  2016influential citation
• A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia

  2016cites this paper
• Structure of, and functional insight into the GLUT family of membrane transporters

  2015cites this paper
• SLC2A9 Genotype Is Associated with SLC2A9 Gene Expression and Urinary Uric Acid Concentration

  2015cites this paper
• Modern diagnostic approach to hereditary xanthinuria

  2015cites this paper
• Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

  2015cites this paper
• Abnormal Serum Uric Acid Levels in Health and Disease: A Double-Edged Sword

  2014cites this paper
• Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

  2014cites this paper
• Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration

  2014cites this paper
• Hereditary renal hypouricemia: a new role for allopurinol?

  2014cites this paper
• Expression of SLC2A9 Isoforms in the Kidney and Their Localization in Polarized Epithelial Cells

  2014cites this paper
• Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

  2014cites this paper
• Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

  2014cites this paper
• Purine disorders with hypouricemia.

  2014cites this paper
• Urate transporters in the genomic era

  2013cites this paper
• Novel drug discovery strategies for gout

  2013cites this paper
• Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

  2013cites this paper
• Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia.

  2013cites this paper
• Acute kidney injury in two children caused by renal hypouricaemia type 2

  2012cites this paper
• Genetic disorders resulting in hyper- or hypouricemia.

  2012cites this paper
• Changes in serum urate and urate excretion with age.

  2012cites this paper
• Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

  2012cites this paper
• Diagnostic Tests for Primary Renal Hypouricemia

  2011cites this paper
• Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population.

  2011cites this paper