Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
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
An enantioselective photometallobiocatalytic cross‐coupling of pyridotriazoles and secondary alkyltrifluoroborate salts is developed. Cooperative catalysis using eosin B and an engineered protoglobin combines visible‐light‐mediated radical generation with enzymatic metal carbenoid activation, affording valuable N‐heterocyclic products in excellent ...
Huanan Wang +5 more
wiley +2 more sources
Monitoring environmental impacts of a designated aquaculture area in the Karaburun Peninsula using Google Earth Engine. [PDF]
Tosun DD.
europepmc +1 more source
Nanomechanical Characterization of Plasma-Sprayed Nanostructured Yb<sub>4</sub>Hf<sub>3</sub>O<sub>12</sub> Thermal/Environmental Barrier Coatings. [PDF]
Wang S +5 more
europepmc +1 more source
Very Low Concentrations of Maritime Exhaust Gas Cleaning System Effluent Impair Fertilization and Larval Development in the Green Sea Urchin <i>Strongylocentrotus droebachiensis</i>. [PDF]
Chen CY +4 more
europepmc +1 more source
Marine diesel engine reliable intelligent fault diagnosis method based on the generalized multi-source information fusion. [PDF]
Xie Z, Mo C, Jia B.
europepmc +1 more source
Real-time emission prediction for ship engine using stacked time-series learning: a transformer-XGBoost hybrid framework. [PDF]
Lim S, Oh J.
europepmc +1 more source
Influence of transboundary wildfire smoke on fine particulate matter concentrations at South Texas border schools. [PDF]
Pinakana SD +7 more
europepmc +1 more source
Highly transparent PAA-functionalized porous silica coatings with underwater superoleophobicity and oil-fouling resistance. [PDF]
Xu L +8 more
europepmc +1 more source
Molecular-Level Characterization of Carbonaceous Aerosols via Coupled Thermal-Optical Carbon Analysis and Ultra-High-Resolution FT-ICR Mass Spectrometry. [PDF]
Vesga-Martínez SJ +7 more
europepmc +1 more source

