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Functional characterization of variants in human ABCC11, an axillary osmidrosis risk factor.
- Published in:
- Human Cell, 2024, v. 37, n. 4, p. 1070, doi. 10.1007/s13577-024-01074-x
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- Article
Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.
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- Human Cell, 2024, v. 37, n. 4, p. 1231, doi. 10.1007/s13577-024-01079-6
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- 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
Biochemical characterization of Jr(a−) blood type‐related ABCG2 variants: Arg147Trp and Ser572Arg disrupt the plasma membrane localization of ABCG2.
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- Transfusion, 2024, v. 64, n. 2, p. 412, doi. 10.1111/trf.17625
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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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- Article
SNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout.
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- Rheumatology, 2023, v. 62, n. 5, p. e144, doi. 10.1093/rheumatology/keac597
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- Article
Vitamin C transporter SVCT1 serves a physiological role as a urate importer: functional analyses and in vivo investigations.
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- Pflügers Archiv: European Journal of Physiology, 2023, v. 475, n. 4, p. 489, doi. 10.1007/s00424-023-02792-1
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- Article
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2022.1048330
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- 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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- 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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- Article
A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility.
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- Human Cell, 2022, v. 35, n. 2, p. 767, doi. 10.1007/s13577-021-00665-2
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- Article
Identification of Inhibitory Activities of Dietary Flavonoids against URAT1, a Renal Urate Re-Absorber: In Vitro Screening and Fractional Approach Focused on Rooibos Leaves.
- Published in:
- Nutrients, 2022, v. 14, n. 3, p. 575, doi. 10.3390/nu14030575
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- Article
Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
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- Rheumatology, 2022, v. 61, n. 3, p. 1276, doi. 10.1093/rheumatology/keab545
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- Article
Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population.
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- Otolaryngology-Head & Neck Surgery, 2022, v. 166, n. 1, p. 139, doi. 10.1177/01945998211000374
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- Article
Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach.
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- Human Cell, 2021, v. 34, n. 6, p. 1727, doi. 10.1007/s13577-021-00609-w
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- 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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- 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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- Article
A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.
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- Biomedicines, 2021, v. 9, n. 8, p. 1012, doi. 10.3390/biomedicines9081012
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- Article
Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
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- Human Cell, 2021, v. 34, n. 4, p. 1082, doi. 10.1007/s13577-021-00534-y
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- Article
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1935, doi. 10.3390/ijms22041935
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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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- Article
Febuxostat inhibited axillary osmidrosis risk factor ATP‐binding cassette transporter C11 in vitro.
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- Journal of Dermatology, 2020, v. 47, n. 10, p. 1198, doi. 10.1111/1346-8138.15512
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- Article
Soy Isoflavone Genistein Inhibits an Axillary Osmidrosis Risk Factor ABCC11: In Vitro Screening and Fractional Approach for ABCC11-Inhibitory Activities in Plant Extracts and Dietary Flavonoids.
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- Nutrients, 2020, v. 12, n. 8, p. 2452, doi. 10.3390/nu12082452
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- Article
Omega-3 Polyunsaturated Fatty Acids Inhibit the Function of Human URAT1, a Renal Urate Re-absorber.
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- Nutrients, 2020, v. 12, n. 6, p. 1601, doi. 10.3390/nu12061601
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- Article
Inhibitory effect of Citrus flavonoids on the in vitro transport activity of human urate transporter 1 (URAT1/SLC22A12), a renal re-absorber of urate.
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- NPJ Science of Food, 2020, v. 4, n. 1, p. 1, doi. 10.1038/s41538-020-0063-7
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- Article
Pathophysiological importance of bile cholesterol reabsorption: hepatic NPC1L1-exacerbated steatosis and decreasing VLDL-TG secretion in mice fed a high-fat diet.
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- Lipids in Health & Disease, 2019, v. 18, n. 1, p. 1, doi. 10.1186/s12944-019-1179-0
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- Article
Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2.
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- 2019
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- Publication type:
- Letter
Identification of hepatic NPC1L1 as an NAFLD risk factor evidenced by ezetimibe‐mediated steatosis prevention and recovery.
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- FASEB Bioadvances, 2019, v. 1, n. 5, p. 283, doi. 10.1096/fba.2018-00044
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- Article
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort.
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- Cells (2073-4409), 2019, v. 8, n. 4, p. 363, doi. 10.3390/cells8040363
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- Article
Inhibitors of Human ABCG2: From Technical Background to Recent Updates With Clinical Implications.
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- Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00208
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- Article
Metabolomics of an in vitro liver model containing primary hepatocytes assembling around an endothelial cell network: comparative study on the metabolic stability and the effect of acetaminophen treatment.
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- Journal of Toxicological Sciences, 2017, v. 42, n. 4, p. 445, doi. 10.2131/jts.42.445
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- Article
Spontaneous Production of Glutathione-Conjugated Forms of 1,2-Dichloropropane: Comparative Study on Metabolic Activation Processes of Dihaloalkanes Associated with Occupational Cholangiocarcinoma.
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- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/9736836
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- Article
Clinical and Molecular Evidence of ABCC11 Protein Expression in Axillary Apocrine Glands of Patients with Axillary Osmidrosis.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 417, doi. 10.3390/ijms18020417
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- Article
Identification of Febuxostat as a New Strong ABCG2 Inhibitor: Potential Applications and Risks in Clinical Situations.
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- Frontiers in Pharmacology, 2016, v. 7, p. 1, doi. 10.3389/fphar.2016.00518
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- Article
Regulation of the Axillary Osmidrosis-Associated ABCC11 Protein Stability by N-Linked Glycosylation: Effect of Glucose Condition.
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- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157172
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- Article
Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/7670483
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- Article
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.
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- Rheumatology, 2016, v. 55, n. 1, p. 191, doi. 10.1093/rheumatology/kev350
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- Article
Prediction of Drug Transfer into Milk Considering Breast Cancer Resistance Protein (BCRP)-Mediated Transport.
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- Pharmaceutical Research, 2015, v. 32, n. 8, p. 2527, doi. 10.1007/s11095-015-1641-2
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- Article
NPC1L1 is a key regulator of intestinal vitamin K absorption and a modulator of warfarin therapy.
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- Science Translational Medicine, 2015, v. 7, n. 275, p. 1, doi. 10.1126/scitranslmed.3010329
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- Article
Disruption of N-linked glycosylation enhances ubiquitin-mediated proteasomal degradation of the human ATP-binding cassette transporter ABCG2.
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- FEBS Journal, 2009, v. 276, n. 24, p. 7237, doi. 10.1111/j.1742-4658.2009.07423.x
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- Publication type:
- Article
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
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- FASEB Journal, 2009, v. 23, n. 6, p. 2001, doi. 10.1096/fj.09-129098
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- Publication type:
- Article