Results 91 to 100 of about 133,969 (268)

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

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

Introduction to Mendelian randomization

Annals of Clinical Epidemiology
Mendelian randomization (MR), i.e. instrumental variable analysis using genetic instruments, is an approach that incorporates population genetics to improve causal inference. Given that genetics are randomly allocated at conception, this resembles the randomization process in randomized controlled trials and hence is more resistant to unobserved ...
Yeung, Shiu Lun Au, Luo, Shan, Iwagami, Masao, Goto, Atsushi   +3 more
openaire   +2 more sources

Goofy/123Cre lineage tracing differentiates olfactory and vomeronasal neurons from GnRH‐1 and terminal nerve neurons during neuronal migration and reveals additional olfactory placode‐derived cells in the brain

Developmental Dynamics, EarlyView.
Abstract The olfactory placode (OP) generates a broad array of chemosensory neurons in the nasal region, including olfactory sensory neurons, vomeronasal sensory neurons, neurons of the septal organ, and Grueneberg ganglion. During invagination, the OP also generates migratory neuronal populations, including gonadotropin‐releasing hormone‐1 (GnRH‐1 ...
Enrico Amato Jr., Mia V. Call, Noah M. LeFever, Mya Aviles‐Carlos, Nikki M. Dolphin, Paolo E. Forni   +5 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

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1474-1478, April 2025.
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner, Antje Augstein, Mahmoud Abdellatif, André Lourenço, Adelino Leite‐Moreira, Inês Falcão‐Pires, Sarah Werner, Holger Thiele, Simon Sedej, Antje Schauer, Volker Adams   +10 more
wiley   +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

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

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

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

Epilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann, Amanda Stuart, Navprabhjot Kaur, Samuel Wiebe, Nathalie Jette, Shaily Singh, Felippe Borlot, Susanne Knake, The Calgary Comprehensive Epilepsy Program Collaborators, Paolo Federico, Colin Josephson, William Murphy, Andrea Salmon, Guillermo Delgado Garcia, Walter Hader, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source