Results 51 to 60 of about 1,505 (151)
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study
British Journal of Clinical Pharmacology, EarlyView.Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson +9 more
wiley +1 more source
Deciphering the Nonsense Readthrough Mechanism of Action of Ataluren: An in Silico Compared Study [PDF]
ACS Medicinal Chemistry Letters, 2019 Ataluren was reported to suppress nonsense mutations by promoting the readthrough of premature stop codons, although its mechanism of action (MOA) is still debated. The likely interaction of Ataluren with CFTR-mRNA has been previously studied by molecular dynamics.
Marco Tutone +4 more
openaire +3 more sources
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Flow‐Enabled, Modular Access to α,α‐Difluoromethylene Amines
Angewandte Chemie, Volume 137, Issue 52, December 22, 2025.We report a safe and scalable flow‐based strategy for the on‐demand generation of NCF2R anions using a packed‐bed microreactor containing CsF. This protocol enables the late‐stage installation of the CF2 group under mild conditions leveraging three points of diversification, allowing efficient access to a broad range of NCF2R scaffolds.
Dmitrii Nagornîi +5 more
wiley +2 more sources
PLoS ONE, 2020 A phase 3 randomized double blind controlled, trial in 238 people with cystic fibrosis (CF) and at least one nonsense mutation (nmCF) investigated the effect of ataluren on FEV1. The study was of 48 weeks duration and failed to meet its primary endpoint.
Harm A W M Tiddens +7 more
doaj +1 more source
Epilepsia, Volume 67, Issue 9, Page 4631-4648, September 2026.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro +5 more
wiley +1 more source
Cooperative Brønsted Acid and Photo‐Promoted Stereoselective Synthesis of Substituted Piperidones
Angewandte Chemie, Volume 137, Issue 51, December 15, 2025.A Brønsted acid cooperates with a photoexcited carbonyl triplet to promote stereoselective C─C bond formation in disubstituted piperidones through a chromophore‐activator strategy. The Brønsted acid lowers the excitation energy gap, directs selective C─N bond cleavage over C─C fragmentation after H‐atom transfer, and enables enantioselective C─C bond ...
Qiupeng Peng +5 more
wiley +2 more sources
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Advances in Dystrophinopathy Diagnosis and Therapy
Biomolecules, 2023 Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad +2 more
doaj +1 more source