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2014 6
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83 results

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Page 1
Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
de Lima JD, de Paula AGP, Yuasa BS, de Souza Smanioto CC, da Cruz Silva MC, Dos Santos PI, Prado KB, Winter Boldt AB, Braga TT. de Lima JD, et al. Immunol Invest. 2023 Apr;52(3):364-397. doi: 10.1080/08820139.2023.2168554. Epub 2023 Feb 6. Immunol Invest. 2023. PMID: 36745138 Review.
Unprecedently, a novel UA binding protein - the neuronal apoptosis inhibitor protein (NAIP) - is suggested as responsible for the asymptomatic hyperuricemia paradox.Abbreviation: beta2-integrins: leukocyte-specific adhesion molecules; ABCG2: ATP-binding cassete family/breast canc …
Unprecedently, a novel UA binding protein - the neuronal apoptosis inhibitor protein (NAIP) - is suggested as responsible for the asymptomat …
Genetic Association Between SLC22A12 Variants and Susceptibility to Hyperuricemia: A Meta-Analysis.
Zheng Q, Keliang W, Hongtao Q, Xiaosheng L. Zheng Q, et al. Genet Test Mol Biomarkers. 2022 Feb;26(2):81-95. doi: 10.1089/gtmb.2021.0175. Genet Test Mol Biomarkers. 2022. PMID: 35225677
Thus, we aimed to assess the relationship between SLC22A12 gene variants and hyperuricemia susceptibility through a meta-analysis. ...Conclusions: Under the allelic model SLC22A12 rs3825018 and rs3825016 were risk factors for hyperuricemia and gout as was rs7932775 …
Thus, we aimed to assess the relationship between SLC22A12 gene variants and hyperuricemia susceptibility through a meta-analysis. .. …
Sex Differences in Urate Handling.
Halperin Kuhns VL, Woodward OM. Halperin Kuhns VL, et al. Int J Mol Sci. 2020 Jun 16;21(12):4269. doi: 10.3390/ijms21124269. Int J Mol Sci. 2020. PMID: 32560040 Free PMC article. Review.
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
Toyoda Y, Kawamura Y, Nakayama A, Nakaoka H, Higashino T, Shimizu S, Ooyama H, Morimoto K, Uchida N, Shigesawa R, Takeuchi K, Inoue I, Ichida K, Suzuki H, Shinomiya N, Takada T, Matsuo H. Toyoda Y, et al. Rheumatology (Oxford). 2021 Nov 3;60(11):5224-5232. doi: 10.1093/rheumatology/keab327. Rheumatology (Oxford). 2021. PMID: 33821957 Free PMC article.
The causative effect of common and rare variants of ATP-binding cassette transporter G2 (ABCG2/BCRP) on gout risk has been studied, but little attention has been paid to the effect of common (rs121907892, p.W258X) and rare variants of urate transporter 1 ( …
The causative effect of common and rare variants of ATP-binding cassette transporter G2 (ABCG2/BCRP) on gout risk has been studied, but litt …
Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.
Cho SK, Kim S, Chung JY, Jee SH. Cho SK, et al. BMJ Open. 2015 Nov 24;5(11):e009360. doi: 10.1136/bmjopen-2015-009360. BMJ Open. 2015. PMID: 26603249 Free PMC article.
OBJECTIVES: Human urate transporter 1 (URAT1) is a member of the organic anion transporter family (SLC22A12) that primarily regulates the renal tubular reabsorption of uric acid. ...SETTING: We recruited 68 healthy volunteers and divided them in …
OBJECTIVES: Human urate transporter 1 (URAT1) is a member of the organic anion transporter family (SLC22A12 …
Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
Nakayama A, Kawamura Y, Toyoda Y, Shimizu S, Kawaguchi M, Aoki Y, Takeuchi K, Okada R, Kubo Y, Imakiire T, Iwasawa S, Nakashima H, Tsunoda M, Ito K, Kumagai H, Takada T, Ichida K, Shinomiya N, Matsuo H. Nakayama A, et al. Rheumatology (Oxford). 2022 Mar 2;61(3):1276-1281. doi: 10.1093/rheumatology/keab545. Rheumatology (Oxford). 2022. PMID: 34255816 Free PMC article.
METHODS: A cohort of 4993 Japanese was examined by genotyping the non-functional variants R90H (rs121907896) and W258X (rs121907892) of URAT1/SLC22A12, the two most common causative variants of RHUC in Japanese. ...Ten participants (0.200%) had an SUA level 2.0 mg/d …
METHODS: A cohort of 4993 Japanese was examined by genotyping the non-functional variants R90H (rs121907896) and W258X (rs121907892) of U …
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Perdomo-Ramirez A, Cordoba-Lanus E, Trujillo-Frias CJ, Gonzalez-Navasa C, Ramos-Trujillo E, Luis-Yanes MI, Garcia-Nieto V, Claverie-Martin F; RenalTube. Perdomo-Ramirez A, et al. Int J Mol Sci. 2023 May 8;24(9):8455. doi: 10.3390/ijms24098455. Int J Mol Sci. 2023. PMID: 37176161 Free PMC article.
Some patients may present severe complications such as exercise-induced acute renal failure and nephrolithiasis. RHUC is caused by inactivating mutations in the SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes, which encode urate transporters URAT1 and GLUT9, re …
Some patients may present severe complications such as exercise-induced acute renal failure and nephrolithiasis. RHUC is caused by inactivat …
Research progress in the genetics of hyperuricaemia and gout.
Zheng M, Ma JW. Zheng M, et al. Yi Chuan. 2016 Apr;38(4):300-13. doi: 10.16288/j.yczz.15-385. Yi Chuan. 2016. PMID: 27103454 Review.
In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their ove …
In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with …
Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population.
Duong NT, Ngoc NT, Thang NTM, Phuong BTH, Nga NT, Tinh ND, Quynh DH, Ton ND, Hai NV. Duong NT, et al. Medicina (Kaunas). 2019 Jan 7;55(1):8. doi: 10.3390/medicina55010008. Medicina (Kaunas). 2019. PMID: 30621105 Free PMC article.
Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materials and methods: Genomic DNA was extracted from blood of a total of 170 patients with gout and 351 healthy controls. We genotyped single nucl …
Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materia …
27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.
Matsubayashi M, Sakaguchi YM, Sahara Y, Nanaura H, Kikuchi S, Asghari A, Bui L, Kobashigawa S, Nakanishi M, Nagata R, Matsui TK, Kashino G, Hasegawa M, Takasawa S, Eriguchi M, Tsuruya K, Nagamori S, Sugie K, Nakagawa T, Takasato M, Umetani M, Mori E. Matsubayashi M, et al. FASEB J. 2021 Jan;35(1):e21262. doi: 10.1096/fj.202002077R. FASEB J. 2021. PMID: 33368618 Free PMC article.
Here, we show that cholesterol metabolite 27-hydroxycholesterol (27HC) upregulates the uric acid reabsorption transporter URAT1 encoded by SLC22A12 via estrogen receptors (ER). Transcriptional motif analysis showed that the SLC22A12 gene promoter has more est …
Here, we show that cholesterol metabolite 27-hydroxycholesterol (27HC) upregulates the uric acid reabsorption transporter URAT1 encod …
83 results