Results 101 to 110 of about 133,969 (268)

Causal and mediating effects of lipid and facial aging: association study integrating GWAS, eQTL, mQTL, and pQTL data

Lipids in Health and Disease
Background Increasing evidence suggests a potential causal association between lipid levels and facial aging. The aim of this study was to investigate the relationship between levels of specific lipids and facial aging via Mendelian randomization methods.
Mingjian Zhao, Zhanchen He, Lukuan Liu, Yichen Wang, LinQi Gao, Yuxuan Shang, Mengru Zhu   +6 more
doaj   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia 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, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

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

Advanced 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

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

Archives 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, Fangyu Gao, Baolong Pan, Feng Gao, Jingsi Zhang, Shanshan Wang, Qiao Niu   +6 more
doaj   +1 more source

A very Mendelian year [PDF]

Nature Genetics, 2022
openaire   +2 more sources

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

Journal 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, Brittney Murray, Rafik Tadros, Marina Rieder, Ravi A. Shah, Ghaith Sharaf Dabbagh, Andrew P. Landstrom, Stephan Dobner, Patricia B. Munroe, Christopher M. Haggerty, Argelia Medeiros‐Domingo, Anjali T. Owens, Iftikhar J. Kullo, Christopher Semsarian, Tobias Reichlin, Andreas S. Barth, Dan M. Roden, Cynthia A. James, James S. Ware, C. Anwar A. Chahal   +19 more
doaj   +1 more source

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

Global 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, Lena Tschiderer, Diederick E. Grobbee, Peter Willeit, Hester M. den Ruijter, A. Floriaan Schmidt, Sanne A. E. Peters   +6 more
doaj   +1 more source

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

Ibrain, 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, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source