Results 161 to 170 of about 585,044 (300)

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

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Lipoprotein-apheresis reduces circulating microparticles in individuals with familial hypercholesterolemia

open access: yes, 2014
Lipoprotein-apheresis (apheresis) removes LDL-cholesterol in patients with severe dyslipidemia. However, reduction is transient, indicating that the long-term cardiovascular benefits of apheresis may not solely be due to LDL removal. Microparticles (MPs)
D Aled Rees (10871627)   +8 more
core  

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
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

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