Results 121 to 130 of about 184,242 (260)

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

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

List of Microsatellite Markers and Mendelian Correlations.

, 2012
List of Microsatellite Markers and Mendelian Correlations.
Yun Jiao (115357), Lu Lu (392), Richard J. Smeyne (176215), Robert W. Williams (10394)   +3 more
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 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

Genotypic frequencies considering Mendelian and MCR inheritance.

, 2018
Genotypic frequencies considering Mendelian and MCR inheritance.
Jairo Rocha de Faria (5916884), Juarez dos Santos Azevedo (5916878), Josenildo Silva de Lima (5916881), Antonio José Boness dos Santos (5916875), Ana Paula Wyse (5916872)   +4 more
core   +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

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

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source