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Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.
- Published in:
- Human Cell, 2024, v. 37, n. 4, p. 1231, doi. 10.1007/s13577-024-01079-6
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- Publication type:
- Article
Regulation of Urate Homeostasis by Membrane Transporters.
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- Gout, Urate, & Crystal Deposition Disease, 2024, v. 2, n. 2, p. 206, doi. 10.3390/gucdd2020016
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- Article
Recent Advances in Dysuricemia: Toward Optimal Serum Urate Level.
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- Biomedicines, 2024, v. 12, n. 5, p. 1094, doi. 10.3390/biomedicines12051094
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- Article
Dysuricemia.
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- Biomedicines, 2023, v. 11, n. 12, p. 3169, doi. 10.3390/biomedicines11123169
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- Publication type:
- Article
Dasatinib suppresses particulate-induced pyroptosis and acute lung inflammation.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1250383
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- Publication type:
- Article
SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout.
- Published in:
- Rheumatology, 2023, v. 62, n. 5, p. e144, doi. 10.1093/rheumatology/keac597
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- Publication type:
- Article
Oridonin suppresses particulate-induced NLRP3-independent IL-1α release to prevent crystallopathy in the lung.
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- International Immunology, 2022, v. 34, n. 10, p. 493, doi. 10.1093/intimm/dxac018
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- Article
Nanaomycin E inhibits NLRP3 inflammasome activation by preventing mitochondrial dysfunction.
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- International Immunology, 2022, v. 34, n. 10, p. 505, doi. 10.1093/intimm/dxac028
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- Publication type:
- Article
Coffee Consumption Reduces Gout Risk Independently of Serum Uric Acid Levels: Mendelian Randomization Analyses Across Ancestry Populations.
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- ACR Open Rheumatology, 2022, v. 4, n. 6, p. 534, doi. 10.1002/acr2.11425
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- Publication type:
- Article
OAT10/SLC22A13 Acts as a Renal Urate Re-Absorber: Clinico-Genetic and Functional Analyses With Pharmacological Impacts.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.842717
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- Publication type:
- Article
A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility.
- Published in:
- Human Cell, 2022, v. 35, n. 2, p. 767, doi. 10.1007/s13577-021-00665-2
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- Publication type:
- Article
Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
- Published in:
- Rheumatology, 2022, v. 61, n. 3, p. 1276, doi. 10.1093/rheumatology/keab545
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- Publication type:
- Article
Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach.
- Published in:
- Human Cell, 2021, v. 34, n. 6, p. 1727, doi. 10.1007/s13577-021-00609-w
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- Publication type:
- Article
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
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- Rheumatology, 2021, v. 60, n. 11, p. 5224, doi. 10.1093/rheumatology/keab327
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- Publication type:
- Article
First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout.
- Published in:
- Rheumatology, 2021, v. 60, n. 9, p. 3961, doi. 10.1093/rheumatology/keab322
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- Publication type:
- Article
An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate.
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- Rheumatology, 2021, v. 60, n. 9, p. 4430, doi. 10.1093/rheumatology/keab404
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- Publication type:
- Article
A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.
- Published in:
- Biomedicines, 2021, v. 9, n. 8, p. 1012, doi. 10.3390/biomedicines9081012
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- Publication type:
- Article
Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
- Published in:
- Human Cell, 2021, v. 34, n. 4, p. 1082, doi. 10.1007/s13577-021-00534-y
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- Publication type:
- Article
Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.
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- Human Cell, 2021, v. 34, n. 2, p. 293, doi. 10.1007/s13577-021-00485-4
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- Article
Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
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- Rheumatology, 2020, v. 59, n. 12, p. 3988, doi. 10.1093/rheumatology/keaa461
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- Publication type:
- Article
Dysfunctional ABCG2 gene polymorphisms are associated with serum uric acid levels and all-cause mortality in hemodialysis patients.
- Published in:
- Human Cell, 2020, v. 33, n. 3, p. 559, doi. 10.1007/s13577-020-00342-w
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- Publication type:
- Article
A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population.
- Published in:
- Human Cell, 2020, v. 33, n. 2, p. 303, doi. 10.1007/s13577-019-00318-5
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- Publication type:
- Article
Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0339-0
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- Publication type:
- Article
Clinical practice guideline for renal hypouricemia (1st edition).
- Published in:
- Human Cell, 2019, v. 32, n. 2, p. 83, doi. 10.1007/s13577-019-00239-3
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- Publication type:
- Article
Common variant of <italic>BCAS3</italic> is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0583-z
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- Publication type:
- Article
A common variant of MAF/c- MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility.
- Published in:
- Human Cell, 2018, v. 31, n. 1, p. 10, doi. 10.1007/s13577-017-0186-6
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- Publication type:
- Article
Meta-analysis confirms an association between gout and a common variant of LRRC16A locus.
- Published in:
- Modern Rheumatology, 2017, v. 27, n. 3, p. 553, doi. 10.1080/14397595.2016.1218413
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- Article
Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2.
- Published in:
- Scientific Reports, 2016, p. 31003, doi. 10.1038/srep31003
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- Article
Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.
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- Scientific Reports, 2016, p. 25360, doi. 10.1038/srep25360
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- Publication type:
- Article
The effects of URAT1/SLC22A12 nonfunctional variants,R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
- Published in:
- Scientific Reports, 2016, p. 20148, doi. 10.1038/srep20148
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- Article
Association Between Serum Uric Acid Levels/Hyperuricemia and Hypertension Among 85,286 Japanese Workers.
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- 2016
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- Publication type:
- journal article
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82
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- Publication type:
- Article
ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 3, p. 302, doi. 10.1002/acn3.167
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- Publication type:
- Article
NPT1/SLC17A1 Is a Renal Urate Exporter in Humans and Its Common Gain-of-Function Variant Decreases the Risk of Renal Underexcretion Gout.
- Published in:
- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 281, doi. 10.1002/art.38884
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- Publication type:
- Article
Common variant of ALPK1 is not associated with gout: a replication study.
- Published in:
- Human Cell, 2015, v. 28, n. 1, p. 1, doi. 10.1007/s13577-014-0103-1
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- Publication type:
- Article
Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05227
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- Publication type:
- Article
A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility.
- Published in:
- Human Cell, 2014, v. 27, n. 2, p. 1, doi. 10.1007/s13577-013-0081-8
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- Publication type:
- Article
Common variants of a urate-associated gene LRP2 are not associated with gout susceptibility.
- Published in:
- Rheumatology International, 2014, v. 34, n. 4, p. 473, doi. 10.1007/s00296-013-2924-8
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- Publication type:
- Article
ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep03755
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- Publication type:
- Article
A common missense variant of monocarboxylate transporter 9 (<i>MCT9/SLC16A9</i>) gene is associated with renal overload gout, but not with all gout susceptibility.
- Published in:
- Human Cell, 2013, v. 26, n. 4, p. 133, doi. 10.1007/s13577-013-0073-8
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- Publication type:
- Article
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
- Published in:
- Scientific Reports, 2013, p. 1, doi. 10.1038/srep02014
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- Publication type:
- Article
Common Defects of ABCG2, a High-Capacity Urate Exporter, Cause Gout: A Function-Based Genetic Analysis in a Japanese Population.
- Published in:
- Science Translational Medicine, 2009, v. 1, n. 5, p. 1, doi. 10.1126/scitranslmed.3000237
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- Article
The relationships between titers of anti-Ro or anti-La as measured by ELISA and salivary production rate with age correction.
- Published in:
- Modern Rheumatology, 2008, v. 18, n. 6, p. 578, doi. 10.3109/s10165-008-0098-0
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- Publication type:
- Article