keyword
https://read.qxmd.com/read/37065178/immunotherapy-and-immune-infiltration-in-patients-with-clear-cell-renal-cell-carcinoma-a-comprehensive-analysis
#21
JOURNAL ARTICLE
Lin Hou, Xinyue Liu
On a global scale, renal cell carcinoma (RCC) is the second most common form of cancer and the 10th leading cause of cancer-related deaths. There are about 70% of cases of RCC that are clear cell renal cell carcinomas (ccRCCs). This study explores possible targets for immune therapy in patients with RCC. In the recent years, immunotherapy has been applied to RCC patients. In order to identify genes that are closely associated with immune cells, a weighted gene coexpression network analysis (WGCNA) was conducted...
2023: Genetics Research
https://read.qxmd.com/read/37012869/a-review-on-gout-looking-back-and-looking-ahead
#22
REVIEW
Haolin Tao, Yingshi Mo, Wenbin Liu, Hui Wang
Gout is a metabolic disease caused by the deposition of monosodium urate (MSU) crystals inside joints, which leads to inflammation and tissue damage. Increased concentration of serum urate is an essential step in the development of gout. Serum urate is regulated by urate transporters in the kidney and intestine, especially GLUT9 (SLC2A9), URAT1 (SLC22A12) and ABCG. Activation of NLRP3 inflammasome bodies and subsequent release of IL-1β by monosodium urate crystals induce the crescendo of acute gouty arthritis, while neutrophil extracellular traps (NETs) are considered to drive the self-resolving of gout within a few days...
April 2023: International Immunopharmacology
https://read.qxmd.com/read/36979028/loss-of-the-kidney-urate-transporter-urat1-leads-to-disrupted-redox-homeostasis-in-mice
#23
JOURNAL ARTICLE
Neema Jamshidi, Kabir B Nigam, Sanjay K Nigam
High uric acid is associated with gout, hypertension, metabolic syndrome, cardiovascular disease, and kidney disease. URAT1 (SLC22A12), originally discovered in mice as Rst, is generally considered a very selective uric acid transporter compared to other closely-related kidney uric acid transporters such as OAT1 (SLC22A6, NKT) and OAT3 (SLC22A8). While the role of URAT1 in regulating human uric acid is well-established, in recent studies the gene has been linked to redox regulation in flies as well as progression of renal cell carcinoma...
March 22, 2023: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/36860634/acute-kidney-injury-associated-with-severe-hypouricemia-caused-by-a-novel-slc2a9-mutation-enlightenment-from-rare-disease-to-common-disease
#24
JOURNAL ARTICLE
Sanxi Ai, Lubin Xu, Ke Zheng
No abstract text is available yet for this article.
December 2022: Journal of Translational Internal Medicine
https://read.qxmd.com/read/36786387/development-of-a-novel-prognostic-signature-derived-from-enhancer-rna-regulated-genes-in-head-neck-squamous-cell-carcinoma
#25
JOURNAL ARTICLE
Pengfei Diao, Rong Huang, Yawei Shi, Qin Yao, Yibin Dai, Hua Yuan, Yanling Wang, Jie Cheng
BACKGROUND: Enhancer RNAs (eRNAs) are increasingly recognized as prognostic biomarkers-across human cancers. Here, we sought to develop a novel eRNA-regulated genes (ERGs)-derived prognostic signature for head neck squamous cell carcinoma (HNSCC). METHODS: Candidate ERGs were identified via co-expression between individual survival-related eRNAs and their putative targets by Spearman's correlation analyses. The ERG signature was developed by univariate Cox regression, Kaplan-Meier survival analysis and maximum AUC in 1000 iterations of LASSO-penalized multivariate Cox regression...
February 14, 2023: Head & Neck
https://read.qxmd.com/read/36745138/genetic-and-epigenetic-regulation-of-the-innate-immune-response-to-gout
#26
JOURNAL ARTICLE
Jordana Dinorá de Lima, André Guilherme Portela de Paula, Bruna Sadae Yuasa, Caio Cesar de Souza Smanioto, Maria Clara da Cruz Silva, Priscila Ianzen Dos Santos, Karin Braun Prado, Angelica Beate Winter Boldt, Tárcio Teodoro Braga
Gout is a disease caused by uric acid (UA) accumulation in the joints, causing inflammation. Two UA forms - monosodium urate (MSU) and soluble uric acid (sUA) have been shown to interact physically with inflammasomes, especially with the nod-like receptor (NLR) family pyrin domain containing 3 (NLRP3), albeit the role of the immune response to UA is poorly understood, given that asymptomatic hyperuricemia does also exist. Macrophage phagocytosis of UA activate NLRP3, lead to cytokines release, and ultimately, lead to chemoattract neutrophils and lymphocytes to the gout flare joint spot...
April 2023: Immunological Investigations
https://read.qxmd.com/read/36735516/genetic-and-physiological-effects-of-insulin-like-growth-factor-1-igf-1-on-human-urate-homeostasis
#27
JOURNAL ARTICLE
Asim K Mandal, Megan P Leask, Nicholas A Sumpter, Hyon K Choi, Tony R Merriman, David B Mount
SIGNIFICANCE STATEMENT: Hyperinsulinemia induces hyperuricemia by activating net renal urate reabsorption in the renal proximal tubule. The basolateral reabsorptive urate transporter GLUT9a appears to be the dominant target for insulin. By contrast, IGF-1 infusion reduces serum urate (SU), through mechanisms unknown. Genetic variants of IGF1R associated with reduced SU have increased IGF-1R expression and interact with genes encoding the GLUT9 and ABCG2 urate transporters, in a sex-specific fashion, which controls the SU level...
March 1, 2023: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/36557230/gene-dose-dependent-and-additive-effects-of-abcg2-rs2231142-and-slc2a9-rs3733591-genetic-polymorphisms-on-serum-uric-acid-levels
#28
JOURNAL ARTICLE
Jin-Woo Park, Ji-Hyeon Noh, Jong-Min Kim, Hwa-Young Lee, Kyoung-Ah Kim, Ji-Young Park
This study aimed to evaluate whether the single nucleotide polymorphisms of ATP-binding cassette subfamily G member 2 ( ABCG2 ) and solute carrier family 2 member 9 ( SLC2A9 ) affect individual blood uric acid levels using pyrosequencing. ABCG2 (rs2231142, rs72552713, rs2231137), SLC2A9 (rs3734553, rs3733591, rs16890979), and individual uric acid levels were prospectively analyzed in 250 healthy young Korean male participants. Prominent differences in uric acid levels of the alleles were observed in the SLC2A9 rs3733591 polymorphism: wild-type (AA) vs...
November 29, 2022: Metabolites
https://read.qxmd.com/read/36545489/-slc2a9-rs1014290-polymorphism-is-associated-with-prediabetes-and-type-2-diabetes
#29
JOURNAL ARTICLE
Xuemei Zhang, Guangsen Hou, Fang Li, Xiao Zheng, Qian Nie, Guangyao Song
PURPOSE: To investigate the association of the A/G rs1014290 polymorphism in SLC2A9 with type 2 diabetes (T2DM) and prediabetes mellitus (pre-DM). Patients and Methods . We enrolled 1058 patients who attended the Hebei General Hospital, Shijiazhuang, Hebei Province, China. The patients underwent general testing and oral glucose tolerance tests and were divided into three groups: 352 patients newly diagnosed with T2DM, 358 patients with pre-DM, and 348 healthy controls. The single nucleotide polymorphism (SNP) was detected by ligase detection reactions...
2022: International Journal of Endocrinology
https://read.qxmd.com/read/36518662/-slc2as-as-diagnostic-markers-and-therapeutic-targets-in-luad-patients-through-bioinformatic-analysis
#30
JOURNAL ARTICLE
Yanli Zhang, Han Qin, Jing Bian, Zhanchuan Ma, Huanfa Yi
Facilitative glucose transporters (GLUTs), which are encoded by solute carrier 2A ( SLC2A ) genes, are responsible for mediating glucose absorption. In order to meet their higher energy demands, cancer cells are more likely than normal tissue cells to have elevated glucose transporters. Multiple pathogenic processes, such as cancer and immunological disorders, have been linked to GLUTs. Few studies, meanwhile, have been conducted on individuals with lung adenocarcinoma (LUAD) to evaluate all 14 SLC2A genes...
2022: Frontiers in Pharmacology
https://read.qxmd.com/read/36398357/the-impact-of-genetic-variability-in-urate-transporters-on-oxypurinol-pharmacokinetics
#31
JOURNAL ARTICLE
Hailemichael Z Hishe, Sophie L Stocker, Lisa K Stamp, Nicola Dalbeth, Tony R Merriman, Amanda Phipps-Green, Daniel F B Wright
The genetic determinants of the allopurinol dose-concentration relationship have not been extensively studied. We aimed to clarify what factors, including genetic variation in urate transporters, influence oxypurinol pharmacokinetics. A population pharmacokinetic model for oxypurinol was developed with NONMEM (v7.3). The influence of urate transporter genetic variants for; ABCG2 (rs2231142 and rs10011796), SLC2A9/GLUT9 (rs11942223), SLC17A1/NPT1 (rs1183201), SLC22A12/URAT1 (rs3825018), SLC22A11/OAT4 (rs17300741), and ABCC4/MRP4 (rs4148500) as well as other participant factors on oxypurinol pharmacokinetics was assessed...
November 17, 2022: Clinical and Translational Science
https://read.qxmd.com/read/36388056/identification-of-prognostic-mirna-mrna-regulatory-network-in-the-progression-of-hcv-associated-cirrhosis-to-hepatocellular-carcinoma
#32
JOURNAL ARTICLE
Liping Han, Xuemei Jia, Weinire Abuduwaili, Dongping Li, He Chen, Qiuyu Jiang, She Chen, Si Zhang, Rong Xia, Ruyi Xue
Background: Long-term hepatitis C virus (HCV) infection is strongly associated with hepatocellular carcinoma (HCC), yet the mechanisms of the progression process remain unclear. The research is aiming to establish a crucial prognostic model that indicates the risk of HCV-associated cirrhosis evolving into HCC. Methods: Differentially expressed microRNAs (DE-miRNAs) and differentially expressed genes (DEGs) between HCV-associated cirrhosis and HCC were screened from the GSE40744 and GSE6764 datasets, respectively...
October 2022: Translational Cancer Research
https://read.qxmd.com/read/36221101/polygenic-risk-score-trend-and-new-variants-on-chromosome-1-are-associated-with-male-gout-in-genome-wide-association-study
#33
JOURNAL ARTICLE
Ya-Sian Chang, Chien-Yu Lin, Ting-Yuan Liu, Chung-Ming Huang, Chin-Chun Chung, Yu-Chia Chen, Fuu-Jen Tsai, Jan-Gowth Chang, Shun-Jen Chang
BACKGROUND: Gout is a highly hereditary disease, but not all those carrying well-known risk variants have developing gout attack even in hyperuricemia status. We performed a genome-wide association study (GWAS) and polygenic risk score (PRS) analysis to illustrate the new genetic architectures of gout and asymptomatic hyperuricemia (AH). METHODS: GWAS was performed to identify variants associated with gout/AH compared with normouricemia. The participants were males, enrolled from the Taiwan Biobank and China Medical University, and divided into discovery (n=39,594) and replication (n=891) cohorts for GWAS...
October 11, 2022: Arthritis Research & Therapy
https://read.qxmd.com/read/36210123/a-novel-mutation-in-a-patient-with-familial-renal-hypouricemia-type-2
#34
Kubra Kaynar, Beyhan Güvercin, Mustafa Şahin, Nilay Turan, Ferhat Açíkyürek
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis...
2022: Nefrología
https://read.qxmd.com/read/36077407/differences-of-uric-acid-transporters-carrying-extracellular-vesicles-in-the-urine-from-uric-acid-and-calcium-stone-formers-and-non-stone-formers
#35
JOURNAL ARTICLE
Zhijian Lin, Muthuvel Jayachandran, Zejfa Haskic, Sanjay Kumar, John C Lieske
BACKGROUND: Low urine pH and volume are established risk factors for uric acid (UA) stone disease (UASD). Renal tubular epithelial cells exposed to an acidic pH and/or UA crystals can shed extracellular vesicles (EVs) into the tubular fluid, and these EVs may be a pathogenic biomarker of UASD. METHODS: Urinary EVs bearing UA transporters (SLC2A9, SLC17A3, SLC22A12, SLC5A8, ABCG2, and ZNF365) were quantified in urine from UA stone formers (UASFs), calcium stone formers (CSFs), and age-/sex-matched non-stone formers (NSFs) using a standardized and published method of digital flow cytometry...
September 2, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/36006548/the-regulation-effect-of-glut9-slc2a9-on-intrahepatic-uric-acid-level-and-metabolic-associated-fatty-liver-disease
#36
JOURNAL ARTICLE
Hang Zeng, Chenxi Tang, Bingru Lin, Mengli Yu, Xinyu Wang, Jinghua Wang, Shenghui Chen, Chaohui Yu
BACKGROUND: Metabolic associated fatty liver disease (MAFLD) is the most common chronic liver disease worldwide. The important role of urid acid (UA) in MAFLD has been widely investigated. Our previous studies unveiled the elevation of serum UA levels independently predicts an increased risk of incident MAFLD. However, the role of intrahepatic UA in MAFLD has not been investigated yet. Glucose transporter 9 (GLUT9) is a key transporter that mediates the uptake of UA in hepatocytes. METHODS: In this study, we first explored the clinical association between GLUT9 polymorphism and MAFLD...
August 25, 2022: Hepatology International
https://read.qxmd.com/read/35975251/epigenetic-factors-of-serum-uric-acid-level-and-related-gene-polymorphisms-in-shenyang-china
#37
JOURNAL ARTICLE
L Wang, X Chen, L Han, B Jin, W Han, J Jia, X Bai, Z Teng
Background: The purpose of this study was to explore the influencing factors of serum uric acid (SUA) level and related gene polymorphisms in the healthy population. Methods: A total of 346 healthy individuals screened from different areas in Shenyang City and 195 patients with high SUA levels were included. Results: The levels of TC (total cholesterol), HDL-C (high-density lipoprotein cholesterol), LDL-C (low-density lipoprotein cholesterol), TG (triglycerides), GLU (blood glucose) ALT (alanine aminotransferase), TBA (total bile acid), TBIL (total bilirubin), CR (creatinine) and CYSC (Cystatin C) were statistically different between the healthy and hyperuricemia population (P<0...
January 2022: Acta endocrinologica: the international journal of the Romanian Society of Endocrinology
https://read.qxmd.com/read/35758599/genetic-contributions-to-female-gout-and-hyperuricemia-using-genome-wide-association-study-and-polygenic-risk-score-analyses
#38
JOURNAL ARTICLE
Chien-Yu Lin, Ya-Sian Chang, Ting-Yuan Liu, Chung-Ming Huang, Chin-Chun Chung, Yu-Chia Chen, Fuu-Jen Tsai, Jan-Gowth Chang, Shun-Jen Chang
OBJECTIVES: To identify genetic variants and polygenic risk score (PRS) relating to female gout and asymptomatic hyperuricemia (AH) in a genome-wide association study (GWAS). METHODS: Gout, AH and normouricemia controls were included from Taiwan biobank and China Medical University Hospital. All participants were divided into discovery and replication cohorts for GWAS. PRS was estimated according to whether the variant exhibited a protective effect on the phenotypes or not...
June 27, 2022: Rheumatology
https://read.qxmd.com/read/35702613/examining-an-association-of-single-nucleotide-polymorphisms-with-hyperuricemia-in-chinese-flight-attendants
#39
JOURNAL ARTICLE
Jianpin Ye, Zhiwei Zeng, Yuxian Chen, Zhenkun Wu, Qingwei Yang, Tao Sun
Background: Both genetic and environmental factors strongly affect serum uric acid (SUA) concentrations. The incidence of hyperuricemia tends to be younger in the Chinese population. In particular, we have found a high prevalence of hyperuricemia among Chinese flight attendants, aged from 20 to 40, in our survey. This study aims to evaluate whether there is an association between gene polymorphisms and hyperuricemia among Chinese flight attendants. Methods: A total of 532 flight attendants with high and normal serum uric acid levels were recruited...
2022: Pharmacogenomics and Personalized Medicine
https://read.qxmd.com/read/35633389/are-polymorphisms-affecting-serum-urate-renal-urate-handling-and-alcohol-intake-associated-with-co-morbidities-in-gout-cases-a-case-control-study-using-data-from-the-uk-biobank
#40
JOURNAL ARTICLE
Gabriela Sandoval-Plata, Kevin Morgan, Abhishek Abhishek
To examine the association between common comorbidities, eGFR and loci involved in the hyperuricaemia-gout transition. This study was conducted in people with gout from the UK Biobank. Logistic regression was used to examine the association between self-reported physician-diagnosed hypertension, diabetes, hypercholesterolemia and ischaemic heart disease (IHD) with the following variants: rs1260326(GCKR), rs16890979(SLC2A9), rs2231142(ABCG2), rs1229984(ADH1B) and rs2078267(SLC22A11) and adjusted for age, sex and 10-principal components...
May 28, 2022: Rheumatology International
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