Influence of single-nucleotide polymorphisms on deferasirox C trough levels and effectiveness [0.03%]
单核苷酸多态性对去铁斯耐 Rox 的谷浓度及疗效的影响
J Cusato,S Allegra,D Massano et al.
J Cusato et al.
Deferasirox (DFX) is the only once-daily oral chelator for iron overload and its pharmacokinetic has been related with response to therapy. Our aim was to evaluate DFX plasma concentrations according to single-nucleotide polymorphisms in ge...
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme [0.03%]
西班牙人群中CYP3A4*20功能丧失型等位基因高频和奠基者效应使CYP3A4成为多态酶
M Apellániz-Ruiz,L Inglada-Pérez,M E G Naranjo et al.
M Apellániz-Ruiz et al.
Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a CYP3A4 protein lacking functional activity is caused by CYP3A4*20 allele. Here we ...
Genetic and metabolic determinants of methotrexate-induced mucositis in pediatric acute lymphoblastic leukemia [0.03%]
儿童急性淋巴细胞白血病中甲氨蝶呤致黏膜炎的遗传和代谢决定因素
M A H den Hoed,E Lopez-Lopez,M L te Winkel et al.
M A H den Hoed et al.
Methotrexate (MTX) is an effective and toxic chemotherapeutic drug in the treatment of pediatric acute lymphoblastic leukemia(ALL). In this prospective study, we aimed to identify metabolic and genetic determinants of MTX toxicity. One hund...
C Ayuso,J M Millan,R Dal-Re
C Ayuso
Whole-genome/exome sequencing used in clinical trials (CTs) to identify 'druggable' mutations and targets uncovers incidental findings unrelated to the trial objectives but of value for participants, although ethically challenging. To be di...
MTHFR-1298 A>C (rs1801131) is a predictor of survival in two cohorts of stage II/III colorectal cancer patients treated with adjuvant fluoropyrimidine chemotherapy with or without oxaliplatin [0.03%]
叶酸通路基因多态性MTHFR-1298 A>C（rs1801131）在氟尿嘧啶类辅助化疗中或联合奥沙利铂治疗Ⅱ/Ⅲ期结肠癌患者生存中的预测作用：两个独立队列的验证研究
E Cecchin,G Perrone,S Nobili et al.
E Cecchin et al.
Adjuvant treatment based on fluoropyrimidines (FL) improves the prognosis of stage II/III colorectal cancer (CRC). Validated predictive/prognostic biomarkers would spare therapy-related morbidity in patients with a good prognosis. We compar...
Opioid-induced respiratory depression: ABCB1 transporter pharmacogenetics [0.03%]
阿片类药物引起的呼吸抑制：ABCB1转运体药理基因组学
S Sadhasivam,V Chidambaran,X Zhang et al.
S Sadhasivam et al.
Opioid-related respiratory depression (RD) is a serious clinical problem as it causes multiple deaths and anoxic brain injuries. Morphine is subject to efflux via P-glycoprotein transporter encoded by ABCB1, also known as MDR1. ABCB1 polymo...
Observational Study
The pharmacogenomics journal. 2015 Apr;15(2):119-26. DOI:10.1038/tpj.2014.56 2015
Genetic variants of kinase suppressors of Ras (KSR1) to predict survival in patients with ERα-positive advanced breast cancer [0.03%]
用于预测ERα阳性晚期乳腺癌患者生存期的Ras激酶抑制蛋白(KSR1)基因变异体
L Benhaim,W Zhang,T Wakatsuki et al.
L Benhaim et al.
In patients with breast cancer (BC), deregulation of estrogen receptor (ERα) activity may account for most resistance to endocrine therapies. Our previous study used a whole-human kinome siRNA screen to identify functional actors in ERα m...
The CYP3A4*22 C>T single nucleotide polymorphism is associated with reduced midazolam and tacrolimus clearance in stable renal allograft recipients [0.03%]
CYP3A4*22 C＞T单核苷酸多态性与肾移植受者咪达唑仑和他克莫司清除率降低相关
H de Jonge,L Elens,H de Loor et al.
H de Jonge et al.
Tacrolimus, a dual substrate of CYP3A4 and CYP3A5 has a narrow therapeutic index and is characterized by high between-subject variability in oral bioavailability. This study investigated the effects of the recently described CYP3A4*22 intro...
The first steps towards the era of personalised vaccinology: predicting adverse reactions [0.03%]
迈向个性化疫苗学时代的第一步：预测不良反应
P Pellegrino,F S Falvella,V Perrone et al.
P Pellegrino et al.
Until now, the occurrence of adverse reactions among individuals inoculated with identical vaccines has been ascribed to unpredictable stochastic processes. Recent advances in pharmacogenomics indicate that some features of host response to...
An evaluation of regulatory and commercial barriers to stratified medicine development and adoption [0.03%]
对分层医药开发和采用的监管及商业壁垒评估
N A Meadows,A Morrison,D A Brindley et al.
N A Meadows et al.
Today, a range of products based on genomics, proteomics and metabolomics have facilitated the development of 'stratified' medicines and companion diagnostics. This investigation profiles a series of targeted medicines and corresponding dia...