Results 1 to 10 of about 5,501 (86)

Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial [PDF]

Circulation
Albert Wiegman, Amy L Peterson, Robert A Hegele   +2 more
exaly   +2 more sources

Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia [PDF]

Circulation
Shazia Ali, Julie A Brothers, Jeanne Mendell   +2 more
exaly   +2 more sources

The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia [PDF]

Frontiers in Cardiovascular Medicine
Raghad Alhuthil
exaly   +2 more sources

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Co‐Design of Strategies to Support the Implementation of a Paediatric Risk‐Reduction Pathway for Familial Hypercholesterolaemia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Objectives Familial hypercholesterolaemia (FH) affects 1 in 311 people. Left untreated, it elevates LDL‐cholesterol from early life and drives premature atherosclerotic cardiovascular disease. Despite paediatric guidelines for early lipid‐lowering, detection and management in Australia remain suboptimal.
Mitchell Sarkies, Shubha Srinivasan, Ari Horton, Jacquie Garton‐Smith, Gerald F. Watts, Christine Tawtel, Jenny Della‐Vedova, Kristen J. Nowak, Jing Pang, Andrew Martin   +9 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Genomic and Sex Contributions to Interindividual Variability in Pitavastatin Bioavailability

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 1, July 2026.
ABSTRACT Aim This study investigates pharmacogenetic determinants of pitavastatin disposition using a candidate‐gene approach. Methods In 48 healthy volunteers, 138 variants across 40 genes involved in drug metabolism and transport were analysed to assess their relationship with pitavastatin pharmacokinetics, alongside the influence of sex and ...
Eva González‐Iglesias, Sofía Moreno‐Pérez de Villar, Dolores Ochoa, Manuel Román, Jesús Novalbos, Samuel Martín‐Vilchez, Alejandro de Miguel, Francisco Abad‐Santos   +7 more
wiley   +1 more source

How does type 2 diabetes modify the risk of Alzheimer's disease?

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract Type 2 diabetes (T2D) and Alzheimer's disease (AD) are both increasing exponentially worldwide. T2D has also been identified as one of 14 modifiable risk factors for dementia, but the mechanism is unknown. T2D could promote dementia via vascular or AD neuropathological changes, and mechanistic hypotheses include central insulin resistance and ...
G. T. Sutherland, A. Chen, H‐T. Nguyen‐Hao, H. Mundell, E. Aladyeva, M. J. Hofer, O. Harari, S. M. Twigg   +7 more
wiley   +1 more source