Results 121 to 130 of about 271,662 (318)

A two‐sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis. Methods Publicly accessible summary statistics on epilepsy were obtained from FinnGen and the International League Against Epilepsy Consortium.
Huaiyu Sun   +7 more
wiley   +1 more source

Promise and Peril of a Genotype‐First Approach to Mendelian Cardiovascular Disease

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD).
Babken Asatryan   +19 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Causal association of plasminogen activators and their inhibitors with Alzheimer’s disease: a Mendelian randomization study

open access: yesArchives of Medical Science
Introduction Alzheimer’s disease (AD) is the most common cause of dementia and contributes to a huge burden of disease worldwide. Observational studies have found that tissue plasminogen activator (t-PA) inhibits the development of AD, but little is ...
Xin Guo   +6 more
doaj   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

open access: yesAdvanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions

open access: yesGlobal Heart
Mendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes.
Sophie C. de Ruiter   +6 more
doaj   +1 more source

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

open access: yesIbrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen   +10 more
wiley   +1 more source

Home - About - Disclaimer - Privacy