Results 141 to 150 of about 191,471 (305)

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

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

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

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

Causal Association Between Lifestyle Behavior and Potential Risk Factors With Blepharoptosis

Eye &ENT Research, EarlyView.
ABSTRACT Background Blepharoptosis is among the most common disorders of eyelid malposition that may influence appearance and damage visual function, and both of these can have negative effects on the quality of life. Various types of blepharoptosis have been reported, including neurogenic, traumatic, congenital, mechanical, psychogenic, and myogenic ...
Shiqi Hui, Zhijia Hou, Dong‐mei Li
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

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

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

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

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