Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

A Tin, J Marten, VL Halperin Kuhns, Y Li, M Wuttke… - Nature …, 2019 - nature.com
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …

Human mutations in SLC2A9 (Glut9) affect transport capacity for urate

A Ruiz, I Gautschi, L Schild, O Bonny - Frontiers in physiology, 2018 - frontiersin.org
SLC2A9 or Glut9 is a voltage sensitive urate transporter, mainly expressed in the kidneys,
the liver, and the intestine. Human Glut9 loss-of-function mutations were identified in familial …

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

A Tin, Y Li, JA Brody, T Nutile, AY Chu… - Nature …, 2018 - nature.com
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal
treatment. Previous GWAS identified common variants with modest effects on serum urate …

Fatty Acid-Rich Extract from Holothuria atra for Hyperuricemia via Expressions Modulation of GLUT9a and GLUT9b in Rat Model

I Ikhsan, R Idroes, A Azharuddin, R Nasution… - Molecules, 2023 - mdpi.com
An edible sea cucumber Holothuria atra has been hypothesized to have medicinal benefits
against hyperuricemia owing to its bioactive compounds, including mono-and poly …

Urate transport capacity of glucose transporter 9 and urate transporter 1 in cartilage chondrocytes

B Zhang, M Duan, B Long, B Zhang… - Molecular …, 2019 - spandidos-publications.com
Chronic gouty arthritis, caused by a persistent increase in, and the deposition of, soluble uric
acid (sUA), can induce pathological chondrocyte destruction; however, the effects of urate …

[HTML][HTML] Potentially Functional Genetic Variants in the NRF2 Signaling Pathway Genes are Associated With HBV-related Hepatocellular Carcinoma Survival

R Gong, M Qiu, J Cao, Z Zhou, Y Wei, Q Wen… - Journal of …, 2023 - ncbi.nlm.nih.gov
The nuclear factor E2-related factor 2 (NRF2) signaling pathway is one of the most important
cell defense pathways. However, it is unclear whether genetic variants in NRF2 signaling …

[HTML][HTML] Overexpression of uric acid transporter SLC2A9 inhibits proliferation of hepatocellular carcinoma cells

X Han, J Yang, D Li, Z Guo - Oncology research, 2019 - ncbi.nlm.nih.gov
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-associated mortality
worldwide. Although the mechanisms of HCC progression are not well understood, recent …

GLUT Characterization Using Frog Xenopus laevis Oocytes

W Long, D O'Neill, CI Cheeseman - Glucose Transport: Methods and …, 2018 - Springer
Xenopus laevis oocytes are a useful heterologous expression system for expressing
glucose transporters (GLUTs) and examining their functions. In this chapter, we provide a …

Identification of two novel heterozygous SLC2A9 mutations in a Chinese woman and review of literature

W Sun, J Yang, Y Zhang, W Zhang, X Song, Y Fan… - Clinica Chimica …, 2021 - Elsevier
Objective This study is aimed to describe the clinical and genetic characteristics of a
Chinese woman diagnosed with renal hypouricemia type 2 (RHUC2). We also summarize …

Identifikace bazolaterálních lokalizačních motivů urátového transportéru GLUT9 s využitím funkčních studií.

E Pácalová - 2023 - dspace.cuni.cz
Transportér GLUT9, kódovaný genem SLC2A9, je jedním z klíčových proteinů zajišťujících
přenos kyseliny močové přes membránu epiteliálních buněk proximálního tubulu člověka …