Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.

التفاصيل البيبلوغرافية
العنوان:	Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.
المؤلفون:	Toyoda Y; Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan.; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., Takada T; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., Nakayama A; Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan., Shinomiya N; Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan., Matsuo H; Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Saitama, Japan. matsuo29@gmail.com.; Department of Bioinformation Management, National Defense Medical College Research Institute, Saitama, Japan. matsuo29@gmail.com.
المصدر:	Human cell [Hum Cell] 2024 Jul; Vol. 37 (4), pp. 1231-1234. Date of Electronic Publication: 2024 May 29.
نوع المنشور:	Letter
اللغة:	English
بيانات الدورية:	Publisher: Springer Country of Publication: Japan NLM ID: 8912329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-0774 (Electronic) Linking ISSN: 09147470 NLM ISO Abbreviation: Hum Cell Subsets: MEDLINE
أسماء مطبوعة:	Publication: 2011- : Tokyo : Springer Original Publication: Tōkyō-to : Hito Saibō Kenkyūkai : Kanishobo, Shōwa 63-nen [1988]-
مواضيع طبية MeSH:	Mutation/genetics , Organic Anion Transporters/genetics , Renal Tubular Transport, Inborn Errors*/genetics, Humans ; Uric Acid/metabolism ; Urinary Calculi/genetics ; Organic Cation Transport Proteins
References:	Nakayama A, Matsuo H, Ohtahara A, et al. Clinical practice guideline for renal hypouricemia. Hum Cell. 2019;32:83–7. https://doi.org/10.1007/s13577-019-00239-3 . (PMID: 10.1007/s13577-019-00239-3307839496437292) Nakayama A, Matsuo H, Abhishek A, Ichida K, Shinomiya N. First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout. Rheumatology. 2021;60:3961–3. https://doi.org/10.1093/rheumatology/keab322 . (PMID: 10.1093/rheumatology/keab322344695728889275) Nakayama A, Kawamura Y, Toyoda Y, et al. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene. Rheumatology (Oxford). 2022;61:1276–81. https://doi.org/10.1093/rheumatology/keab545 . (PMID: 10.1093/rheumatology/keab54534255816) Enomoto A, Kimura H, Chairoungdua A, et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature. 2002;417:447–52. https://doi.org/10.1038/nature742 . (PMID: 10.1038/nature74212024214) Matsuo H, Chiba T, Nagamori S, et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet. 2008;83:744–51. https://doi.org/10.1016/j.ajhg.2008.11.001 . (PMID: 10.1016/j.ajhg.2008.11.001190263952668068) Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F. New SLC22A12 (URAT1) variant associated with renal hypouricemia identified by whole-exome sequencing analysis and bioinformatics predictions. Genes (Basel). 2023;14:1823. https://doi.org/10.3390/genes14091823 . (PMID: 10.3390/genes1409182337761963) Mancikova A, Krylov V, Hurba O, et al. Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2. Clin Exp Nephrol. 2016;20:578–84. https://doi.org/10.1007/s10157-015-1186-z . (PMID: 10.1007/s10157-015-1186-z26500098) Toyoda Y, Kawamura Y, Nakayama A, et al. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12. Rheumatology (Oxford). 2021;60:5224–32. https://doi.org/10.1093/rheumatology/keab327 . (PMID: 10.1093/rheumatology/keab32733821957) Toyoda Y, Cho SK, Tasic V, et al. Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2. Front Genet. 2023;13:1048330. https://doi.org/10.3389/fgene.2022.1048330 . (PMID: 10.3389/fgene.2022.1048330367339419887137) Stiburkova B, Taylor J, Marinaki AM, Sebesta I. Acute kidney injury in two children caused by renal hypouricaemia type 2. Pediatr Nephrol. 2012;27:1411–5. https://doi.org/10.1007/s00467-012-2174-0 . (PMID: 10.1007/s00467-012-2174-022527535) Quan V, Ali O, Pavelcova K, Harris F, Stiburkova B. An unusual cause of exercise-induced acute kidney injury. Am J Med. 2018;131:e145–6. https://doi.org/10.1016/j.amjmed.2017.10.053 . (PMID: 10.1016/j.amjmed.2017.10.05329175239)
معلومات مُعتمدة:	21H03350 JSPS KAKENHI; 20H00568 JSPS KAKENHI; 24H00672 JSPS KAKENHI; 20H00566 JSPS KAKENHI
فهرسة مساهمة:	Keywords: GLUT9/SLC2A9; RHUC; Renal hypouricemia; URAT1/SLC22A12; Uric acid
المشرفين على المادة:	0 (Organic Anion Transporters) 268B43MJ25 (Uric Acid) 0 (SLC22A12 protein, human) 0 (urate transporter) 0 (Organic Cation Transport Proteins)
SCR Disease Name:	Renal hypouricemia
تواريخ الأحداث:	Date Created: 20240529 Date Completed: 20240623 Latest Revision: 20240623
رمز التحديث:	20240623
DOI:	10.1007/s13577-024-01079-6
PMID:	38811494
قاعدة البيانات:	MEDLINE

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تدمد:	1749-0774
DOI:	10.1007/s13577-024-01079-6