Results 111 to 120 of about 248,446 (274)

Evaluating the causal relationship of Levo-carnitine and risk of schizophrenia: a bidirectional two-sample mendelian randomization study

BMC Psychiatry
Background Schizophrenia is a debilitating mental disorder affecting about 1% of the global population, characterized by significant cognitive impairments and a strong hereditary component.
Haoyuan Qiu, Zicheng Zhong, Tianxing Wu, Haoran Hu, Meijuan Zhou, Zhijun Feng   +5 more
doaj   +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

Does ankylosing spondylitis exert a bidirectional influence on hypertension? A two-sample Mendelian randomization study

SAGE Open Medicine
Objective: Previous observational studies reported that ankylosing spondylitis is closely related to hypertension. However, it is still controversial whether the association between ankylosing spondylitis and hypertension is causal.
Weiran Hu, Kai Zhang, Guang Yang, Haoxu Wang, Yanzheng Gao   +4 more
doaj   +1 more source

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States

Kidney International Reports
Introduction: Among individuals with high-risk APOL1 genotypes, the lifetime risk of developing kidney failure is ∼15%, indicating that other genetic variants or nongenetic modifiers likely contribute substantially to an individual patient’s risk of ...
Ronaldo da Silva Francisco, Jr., Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla, Glenn M. Chertow, Dianne Keen-Kim, Vivek Charu   +7 more
doaj   +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

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

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

Genetic architecture of heritable leaf microbes

Microbiology Spectrum
Host-associated microbiomes are shaped by both their environment and host genetics, and often impact host performance. The scale of host genetic variation important to microbes is largely unknown yet fundamental to the community assembly of host ...
Julia A. Boyle, Megan E. Frederickson, John R. Stinchcombe   +2 more
doaj   +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

Mendelian or Non-Mendelian? [PDF]

Science, 1921
openaire   +2 more sources