Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells-Reference-Cited by-同舟云学术

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

Published:2024-05-29 Issue:4 Volume:37 Page:1231-1234
ISSN:1749-0774
Container-title:Human Cell
language:en
Short-container-title:Human Cell

Author:

Toyoda Yu^ORCID,Takada Tappei^ORCID,Nakayama Akiyoshi,Shinomiya Nariyoshi^ORCID,Matsuo Hirotaka^ORCID

Funder

JSPS KAKENHI

Research grants from the Ministry of Defense of Japan

The Kawano Masanori Memorial Foundation for Promotion of Pediatrics

Mishima Kaiun Memorial Foundation

Grants-in-Aid for Young Scientists of Japanese Society of Gout and Uric & Nucleic Acids

Gout and uric acid foundation of Japan

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s13577-024-01079-6.pdf

Reference11 articles.

1. 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.

2. 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.

3. 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.

4. 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.

5. 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.

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