Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications [0.03%]
纳米孔测序药物基因CYP2D6同时进行单倍型分型和检测重复拷贝数量变异
Yusmiati Liau,Simran Maggo,Allison L Miller et al.
Yusmiati Liau et al.
Aim: Long read sequencing offers the promise of overcoming some of the challenges in accurate genotyping of complex genes, along with the advantage of straightforward variant phasing. We have established methods for sequencing and haplotypi...
Integration of machine learning and pharmacogenomic biomarkers for predicting response to antidepressant treatment: can computational intelligence be used to augment clinical assessments? [0.03%]
结合机器学习和抗抑郁药物治疗的药理基因组生物标志物以预测治疗反应：计算智能能否用于增强临床评估？
Arjun P Athreya,Ravishankar Iyer,Liewei Wang et al.
Arjun P Athreya et al.
Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing [0.03%]
利用分子逆探针进行目标下一代测序表征药理基因组学
Oscar Suzuki,Olivia M Dong,Rachel M Howard et al.
Oscar Suzuki et al.
Aim: This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials & methods: A genetic test was developed for 21 PGx genes using molecular inversion pr...
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants [0.03%]
基于Bayes的建模预测RYR1、CACNA1S和STAC3变异型恶性高热易感性和致病性
Senthilkumar Sadhasivam,Barbara W Brandom,Richard A Henker et al.
Senthilkumar Sadhasivam et al.
Aim: Identify variants in RYR1, CACNA1S and STAC3, and predict malignant hyperthermia (MH) pathogenicity using Bayesian statistics in individuals clinically treated as MH susceptible (MHS). Materials & methods: Whole exome sequencing includ...
miRNAs in drug response variability: potential utility as biomarkers for personalized medicine [0.03%]
microRNA与药物反应的个体差异及作为生物标志物在个体化治疗中的应用前景
Andrea Latini,Paola Borgiani,Giuseppe Novelli et al.
Andrea Latini et al.
MicroRNAs (miRNAs) are 18-22 nucleotide RNA molecules that modulate the expression of multiple protein-encoding genes at the post-transcriptional level. Almost all physiological conditions are probably modulated by miRNAs, including pharmac...
Lethal toxicities after capecitabine intake in a previously 5-FU-treated patient: why dose matters with dihydropryimidine dehydrogenase deficiency [0.03%]
卡培他滨治疗患者中毒死亡的原因：嘧啶脱氢酶缺乏时剂量的重要性分析
Crescent C Gbeto,Sylvie Quaranta,Roxane Mari et al.
Crescent C Gbeto et al.
Dihydropryimidine dehydrogenase (DPD) deficiency is a pharmacogenetic syndrome associated with severe or lethal toxicities with oral capecitabine. Usually, patients with history of 5-FU-based therapy with no signs for life-threatening toxic...
Case Reports
Pharmacogenomics. 2019 Aug;20(13):931-938. DOI:10.2217/pgs-2019-0028 2019
TRK inhibitors: toward an era of agnostic targeted therapies in oncology [0.03%]
肿瘤学中靶向药物的时代正到来：从TRK抑制剂谈起
Khalil Saleh,Nadine Khalifeh-Saleh,Hampig Raphael Kourie
Khalil Saleh
CYP2C9*2 is associated with indomethacin treatment failure for patent ductus arteriosus [0.03%]
CYP2C9*2与吲哚美辛治疗动脉导管未闭失败相关
Sydney R Rooney,Elaine L Shelton,Ida Aka et al.
Sydney R Rooney et al.
Aims: To identify clinical andgenetic factors associated with indomethacin treatment failure in preterm neonates with patent ductus arteriosus (PDA). Patients & Methods: This is a multicenter cohort study of 144 preterm infants (22-32 weeks...
Gene polymorphisms in VEGFA and COL2A1 are associated with response to inhaled corticosteroids in children with asthma [0.03%]
血管内皮生长因子和COL2A1基因多态性与哮喘患儿吸入糖皮质激素反应的关系研究
Zan Wan,Yongjun Tang,Qianqian Song et al.
Zan Wan et al.
Aim: The purpose of this study was to investigate the involvement of single-nucleotide polymorphisms in VEGFA, TBX21 and COL2A1 in the response to inhaled corticosteroids in asthmatic children. Subjects & methods: Children with mild-to-mode...
Role of transportome in the pharmacogenomics of hepatocellular carcinoma and hepatobiliary cancer [0.03%]
肝细胞癌和胆道癌药物基因组学中运输体的作用
Marta Alonso-Peña,Ricardo A Espinosa-Escudero,Meraris Soto-Muñiz et al.
Marta Alonso-Peña et al.
An important factor determining the pharmacological response to antitumor drugs is their concentrations in cancer cells, which accounts for the net interaction with their intracellular molecular targets. Accordingly, mechanisms leading to r...