Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers [0.03%]
外显子组测序和基于芯片的比较基因组杂交分析优先次甲基巯基嘌呤产生菌株
E W Chua,S Cree,M L Barclay et al.
E W Chua et al.
Preferential conversion of azathioprine or 6-mercaptopurine into methylated metabolites is a major cause of thiopurine resistance. To seek potentially Mendelian causes of thiopurine hypermethylation, we recruited 12 individuals who exhibite...
Variations in genes involved in immune response checkpoints and association with outcomes in patients with resected colorectal liver metastases [0.03%]
与切除结直肠肝转移患者预后相关的免疫反应检查点基因多态性分析
S Stremitzer,Y Sunakawa,W Zhang et al.
S Stremitzer et al.
In patients with colorectal liver metastases (CLM), liver resection offers the possibility of cure and long-term survival. The liver is a highly immunogenic organ harboring ~80% of the body's tissue macrophages. Emerging data demonstrate a ...
Tag SNPs for HLA-B alleles that are associated with drug response and disease risk in the Chinese Han population [0.03%]
与中国人汉人群药物反应和疾病风险相关的HLA-B等位基因的标签SNP
X Liu,J Sun,H Yu et al.
X Liu et al.
Multiple HLA-B alleles (haplotypes) are associated with drug-induced adverse responses and disease risks but are difficult to be directly genotyped. The goal of this study is to identify single nucleotide polymorphisms (SNPs) that are able ...
Meta-Analysis
The pharmacogenomics journal. 2015 Oct;15(5):467-72. DOI:10.1038/tpj.2015.7 2015
M Baber,S Chaudhry,L Kelly et al.
M Baber et al.
The objective of this study was to examine interindividual variability in codeine requirements and pain management by examining select genetic polymorphisms in the codeine pharmacological pathway. The study included a nested cohort of 98 wo...
Common variants of the G protein-coupled receptor type 4 are associated with human essential hypertension and predict the blood pressure response to angiotensin receptor blockade [0.03%]
G蛋白偶联受体4的常见变异与人类原发性高血压相关并可预测血管紧张素受体阻断剂降压反应
H Sanada,M Yoneda,J Yatabe et al.
H Sanada et al.
Non-synonymous GRK4 variants, R65L, A142V and A486V, are associated with essential hypertension in diverse populations. This study replicated the association of GRK4 variants, including GRK4(142V), with human essential hypertension in a Jap...
Establishing the characteristics of an effective pharmacogenetic test for clozapine-induced agranulocytosis [0.03%]
建立有效的药物基因组学检测的特征以筛查氯氮平引起的粒细胞缺乏症患者
M Verbelen,D A Collier,D Cohen et al.
M Verbelen et al.
Clozapine is the only evidence-based therapy for treatment-resistant schizophrenia, but it induces agranulocytosis, a rare but potentially fatal haematological adverse reaction, in less than 1% of users. To improve safety, the drug is subje...
High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of population-specific references [0.03%]
基于高分辨率SNP数据和.population特定参考序列的HLA一.二类基因高精度填充方法
S-S Khor,W Yang,M Kawashima et al.
S-S Khor et al.
Statistical imputation of classical human leukocyte antigen (HLA) alleles is becoming an indispensable tool for fine-mappings of disease association signals from case-control genome-wide association studies. However, most currently availabl...
Development of a genetic marker set to diagnose aspirin-exacerbated respiratory disease in a genome-wide association study [0.03%]
一种遗传标志物的开发用于在全基因组范围关联研究中诊断阿司匹林加重呼吸系统疾病
H S Chang,S W Shin,T H Lee et al.
H S Chang et al.
We developed a genetic marker set of single nucleotide polymorphisms (SNPs) by summing risk scores of 14 SNPs showing a significant association with aspirin-exacerbated respiratory disease (AERD) from our previous 660 W genome-wide associat...
Pharmacogenomic information in drug labels: European Medicines Agency perspective [0.03%]
药物标签中的药物基因组学信息——欧洲药品管理局的观点
F Ehmann,L Caneva,K Prasad et al.
F Ehmann et al.
Pharmacogenomics (PGx) has a growing impact on healthcare and constitutes one of the major pillars of personalised medicine. For the purpose of improved individualised drug treatment, there is an increasing effort to develop drugs suitable ...
Genetic variations in the VEGF pathway as prognostic factors in metastatic colorectal cancer patients treated with oxaliplatin-based chemotherapy [0.03%]
转移性结直肠癌患者接受以奥沙利铂为基础的化疗时VEGF途径遗传变异的预后因素作用分析
L Paré-Brunet,A Sebio,J Salazar et al.
L Paré-Brunet et al.
Angiogenesis is a significant biological mechanism in the progression and metastasis of solid tumors. Vascular endothelial growth factor (VEGF), its receptors and signaling effectors have a central role in tumor-induced angiogenesis. Geneti...