PGx

Mobility endpoints in marketing authorisation of drugs: what gets the European medicines agency moving?

Background: Mobility is defined as the ability to independently move around the environment and is a key contributor to quality of life, especially in older age. The aim of this study was to evaluate the use of mobility as a decisive outcome for the …

The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up of 519 patients in whom molecular alterations were …

How to manage polypharmacia?

Pharmacogenomics (PGx) is a key component of personalized medicine to improve clinical outcome of drug therapy and/or to avoid adverse drug reactions. Major efforts are currently spent internationally to implement PGx diagnostics into clinical …

Pharmacogenetic diagnostics to improve drug therapy in clinical practice

Antifibrotic Effects of Amyloid-Beta and Its Loss in Cirrhotic Liver.

The function and regulation of amyloid-beta (Aβ) in healthy and diseased liver remains unexplored. Because Aβ reduces the integrity of the blood-brain barrier we have examined its potential role in regulating the sinusoidal permeability of normal and …

α2-Adrenergic Receptor in Liver Fibrosis: Implications for the Adrenoblocker Mesedin.

The noradrenergic system is proposed to play a prominent role in the pathogenesis of liver fibrosis. While α1- and β-adrenergic receptors (ARs) are suggested to be involved in a multitude of profibrogenic actions, little is known about α2-AR-mediated …

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.

Structural variants including copy number variations (CNV) have gained widespread attention, especially in pharmacogenomics but for several genes functional relevance and clinical evidence are still lacking. Detection of CNVs in next-generation …

The Impact of CYP3A4*22 on Tacrolimus Pharmacokinetics and Outcome in Clinical Practice at a Single Kidney Transplant Center

Background: Although there is evidence that the CYP3A4*22 variant should be considered in tacrolimus dosing in renal transplantation, its impact beyond tacrolimus dose requirements remains controversial. Methods: In a cohort of 121 kidney transplant …

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort

We developed a panel-based NGS pipeline for comprehensive analysis of 340 genes involved in absorption, distribution, metabolism and excretion (ADME) of drugs, other xenobiotics, and endogenous substances. The 340 genes comprised phase I and II …

Identification of Cardiomyopathy-Associated Circulating miRNA Biomarkers in Muscular Dystrophy Female Carriers Using a Complementary Cardiac Imaging and Plasma Profiling Approach

Background: Different from males with Duchenne/Becker muscular dystrophy (DMD/BMD) in whom overt myopathy is the rule, muscular dystrophy (MD) female carriers are mostly free of skeletal muscle symptoms. However, similar to MD males, these females …