Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis-Reference-Cited by-同舟云学术

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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

Published:2013-02-06 Issue:10 Volume:21 Page:1067-1073
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Stiburkova Blanka,Sebesta Ivan,Ichida Kimiyoshi,Nakamura Makiko,Hulkova Helena,Krylov Vladimir,Kryspinova Lenka,Jahnova Helena

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg20133.pdf

Reference35 articles.

1. Watanabe S, Kang DH, Feng L et al: Uric acid, hominoid evolution, and the pathogenesis of salt-sensitivity. Hypertension 2002; 40: 355–360.

2. Sotgiu S, Pugliatti M, Sanna A et al: Serum uric acid and multiple sclerosis. Neurol Sci 2002; 23: 183–188.

3. Enomoto A, Kimura H, Chairoungdua A et al: Molecular identification of a renal urate-anion exchanger that regulates blood urate levels. Nature 2002; 417: 447–452.

4. Augustin R, Carayannopoulos MO, Dowd L, Phay JE, Moley JF, Moley KH : Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking. J Biol Chem 2004; 279: 16229–16236.

5. Ichida K, Hosoyamada M, Hisatome I et al: Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol 2004; 15: 164–173.

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2. Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China;Molecular Diagnosis & Therapy;2023-11-16

3. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions;Genes;2023-09-20

4. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M);International Journal of Molecular Sciences;2023-05-08

5. The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2;Chemico-Biological Interactions;2023-03

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