Results 151 to 160 of about 1,417,297 (301)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen   +7 more
wiley   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

open access: yesAdvanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi   +6 more
wiley   +1 more source

Anatomical Predictors of Optimal Cryoballoon Size Selection: A Prospective Comparison of 28 mm Versus 31 mm Size‐Adjustable Balloon Modes

open access: yesJournal of Arrhythmia
Background Complete pulmonary vein (PV) occlusion is critical for successful cryoballoon ablation. The POLARx FIT size‐adjustable cryoballoon adjusts diameter from 28 to 31 mm.
Reisuke Yoshizawa   +12 more
doaj   +1 more source

Descriptive, stratigraphic, and morpho‐functional study of the myocardium and myocardial bridges in domestic pig hearts

open access: yesThe Anatomical Record, EarlyView.
Abstract The heart is the central organ of the cardiovascular system. The myocardium is composed of a three‐dimensional network of fibers arranged in clockwise and counterclockwise helices, which are essential for proper cardiac contraction. This study aimed to describe the stratigraphic and morpho‐functional pattern of the porcine myocardium to ...
Mauricio Oliveira da Silva   +3 more
wiley   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonist Use in Obese Patients Is Associated With Decreased Risk of Revision and Retears After Arthroscopic Rotator Cuff Repair

open access: yesArthroscopy, EarlyView.
Purpose To evaluate the impact of preoperative glucagon‐like peptide‐1 receptor agonist (GLP‐1 RA) use on medical complications, emergency department use, and orthopaedic complications in obese patients undergoing arthroscopic rotator cuff repair. Methods Obese patients (defined by relevant ICD‐10 codes and confirmed by body mass index measurements ...
Argen Omurzakov   +5 more
wiley   +1 more source

Structural Allograft Reconstruction for Chronic Proximal Hamstring Avulsion Yields Significant Functional Improvement, Acceptable Satisfaction, but Limited Return to Preinjury Sport Levels

open access: yesArthroscopy, EarlyView.
Purpose To evaluate midterm outcomes of structural allograft reconstruction in patients with chronic proximal hamstring avulsion injuries. Methods This was a retrospective cohort study (minimum 2‐year follow‐up) including patients who underwent allograft surgical reconstruction for proximal hamstring avulsion injuries between 2016 and 2023. The primary
Nicolas Lefèvre   +8 more
wiley   +1 more source

Duck Orbivirus and Egg Production: A Newly Identified Duck Orbivirus Is the Etiological Agent of Egg Production Decline in Chinese Breeder Ducks

open access: yesAnimal Research and One Health, EarlyView.
Field samples from breeder duck farms with egg‐production decline were subjected to viral detection, genome sequencing, and virus isolation. Experimental infection demonstrated that duck orbivirus (DORV) causes a significant and persistent reduction in egg production in breeder ducks.
Bing Li   +18 more
wiley   +1 more source

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