Results 231 to 240 of about 356,102 (313)

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease. [PDF]

Eur J Neurol
Alefanti I, Koros C, Tsami V, Simitsi AM, Kartanou C, Papagiannakis N, Bozi M, Antonelou R, Maniati M, Hauser AK, Varvaressos S, Bonakis A, Lourentzos K, Makrythanasis P, Papageorgiou SG, Proukakis C, Potagas C, Gasser T, Koutsis G, Karadima G, Stefanis L.   +20 more
europepmc   +1 more source

Lower Dose‐Normalized Tacrolimus Exposure in CYP3A5*6 vs. *3 Loss‐of‐Function Allele Carriers: A Longitudinal Retrospective Real‐World Study in Kidney Transplant Recipients

Clinical Pharmacology &Therapeutics, EarlyView.
Pharmacogenomic research has historically focused on individuals of European ancestry, leading to the underrepresentation of genetic variants common in non‐European populations. This bias is exemplified by CYP3A5*6, a functionally consequential variant common in individuals of African ancestry (MAF: 11–19%) but virtually absent in Europeans (MAF: 0.15%)
Amar D. Levens, Dirk Jan A. R. Moes, Yanick Boer, Aiko P. J. de Vries, Dorottya K. de Vries, Danny van der Helm, Soufian Meziyerh, Dave L. Roelen, Stefan Böhringer, Teun Van Gelder, Jesse J. Swen   +10 more
wiley   +1 more source

Molecular Epidemiology of SARS-CoV-2 in Northern Greece from the Index Case up to Early 2025 Using Nanopore Sequencing. [PDF]

Epidemiologia (Basel)
Meletis G, Pappa S, Gioula G, Exindari M, Christoforidi M, Papa A.   +5 more
europepmc   +1 more source

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source

On automatic decipherment of lost ancient scripts relying on combinatorial optimisation and coupled simulated annealing. [PDF]

Front Artif Intell
Tamburini F.
europepmc   +1 more source

Assessing Overall Survival Benefits in Advanced Cancers: The Role of External Comparator Cohort Studies with Real‐World Data

Clinical Pharmacology &Therapeutics, EarlyView.
External comparator cohort (ECC) studies with real‐world data (RWD) may provide more reliable estimates of treatment differences compared to single‐arm trials (SAT), yet they face limitations such as selection bias and data heterogeneity. This study assessed the perceived strength of evidence of ECC studies compared to SAT and randomized controlled ...
Francesco Pignatti, Tarec Christoffer El‐Galaly, Martin Kaiser, Kimmo Porkka, Robin Doeswijk, Peter Mol, Donna R. Rivera, Catherine C. Lerro, Ulrich‐Peter Rohr, Patrice Verpillat, Antonios Valachis, Dario Trapani, Massimo Di Maio, Nicola Latino, Raul Cordoba, Nathan Cherny, Miriam Koopman, Diogo Martins‐Branco, George Pentheroudakis, Douwe Postmus   +19 more
wiley   +1 more source

Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity. [PDF]

Ann Med Surg (Lond)
Mansour AN, Karadima G, Koutsis G, Salloum S.   +3 more
europepmc   +1 more source

Does Institutional Ownership Structure Reduce Greenhouse Gas Emissions? An In‐Depth Study of Corporations Social Responsibility of European‐Listed Firms

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT Motivated by the growing attention and concerns surrounding climate change and the potential role of institutional investors' ownership concentration (OC) in reducing corporations' greenhouse gas (GHG) emissions, this article explores the relationship between various forms of institutional ownership and firms' GHG emission intensity. To do so,
Daniele Giordino, Elisa Ballesio, Aradhana Galgotia, Laura Broccardo   +3 more
wiley   +1 more source

Burnout scales used in healthcare workers during the COVID-19 pandemic and their psychometric properties: a systematic review. [PDF]

Front Public Health
Efremova MI, Cho Y, Miglietta E, Pinto da Costa M.   +3 more
europepmc   +1 more source

Ngos' Contributions to Innovation: Innovation Enablers or Lead Innovators?

Corporate Social Responsibility and Environmental Management, EarlyView.
ABSTRACT This study explores how non‐governmental organisations (NGOs) engage with innovation processes. Drawing on a comparative case study of two NGOs working in water sustainability, the paper analyses NGO involvement across seven stages of the innovation process.
Maria Cristina Pietronudo, Lorenza Claudio, Chiara Cannavale, Marco Ferretti   +3 more
wiley   +1 more source