Results 181 to 190 of about 73,290 (250)

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen   +21 more
wiley   +1 more source

Step-wise evolution of azole resistance through copy number variation followed by KSR1 loss of heterozygosity in Candida albicans. [PDF]

open access: yesPLoS Pathog
Vande Zande P   +16 more
europepmc   +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez   +295 more
wiley   +1 more source

Cost‐effectiveness of DPYD genotyping prior to fluoropyrimidine‐based treatment for colorectal cancer in Wales

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Background Regulatory guidance in the United Kingdom advises DPYD genotyping prior to fluoropyrimidine‐based treatment. This economic evaluation estimated the costs and outcomes associated with DPYD screening prior to prescribing fluoropyrimidines for colorectal cancer in Wales and also considers additional variants to those included in ...
Catrin O. Plumpton   +8 more
wiley   +1 more source

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan   +24 more
wiley   +1 more source

A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...
Clara Laffitte Redondo   +12 more
wiley   +1 more source

Host Cell Protein Challenges in Antibody Processing: Insights Into Persistence and Mitigation Strategies

open access: yesBiotechnology and Bioengineering, EarlyView.
ABSTRACT Persistence of HCPs remains a major purification challenge in biopharmaceutical manufacturing with direct consequences for product quality, patient safety, and regulatory compliance. Over the last two decades, deeper insights into the mechanisms driving HCP persistence have clarified why certain proteins evade removal during purification ...
Younghoon Oh   +10 more
wiley   +1 more source

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