Results 141 to 150 of about 65,139 (240)

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

De Novo Design and Structural Optimization of Mn(salen)‐Based Artificial Metalloenzymes for Asymmetric Sulfoxidation

open access: yesAngewandte Chemie, EarlyView.
We report the computational design of de novo proteins that bind Mn(salen)‐based complexes (L1) using Rosetta FastDesign and verified by AlphaFold2. After screening, the catalytic activity for the promising design (dnMSBP) toward enantioselective sulfoxidation of thioanisole was optimized based on its crystal structure. With 10 different substrates, we
Jing‐Xiang Wang   +6 more
wiley   +2 more sources

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

An X‑Shaped Chiral Non‑Fullerene n‐Type Semiconductor: Application in Perovskite Solar Cells and Chirality‑Induced Spin Selectivity

open access: yesAngewandte Chemie, EarlyView.
A highly electron‑accepting derivative of cyclobisbiphenylenecarbonyl (CBBC‐TIC) is reported. CBBC‐TIC functions as an electron‐transport layer for perovskite solar cells, achieving a power conversion efficiency of 20.6%. Furthermore, the enantiomers of CBBC‐TIC exhibited spin‐selective electron transport with high enantiospecific magnetic conductance ...
Yuki Sakamoto   +15 more
wiley   +2 more sources

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri   +5 more
wiley   +1 more source

Pathway Complexity Defines the Shape of Nucleic Acid‐Loaded Polyion Complex Micelles: Spheroids vs. Hexagonal Disks

open access: yesAngewandte Chemie, EarlyView.
Same building blocks, different destinies. Pathway complexity directs nucleic acid–loaded polyion complex micelles along distinct assembly trajectories, resulting in either hexagonally shaped or spheroidal nanoparticles with distinct internal structuring.
Lennart van den Hoven   +7 more
wiley   +2 more sources

Sex Differences in Knee Flexor Strength and Limb Symmetry Across Different Strength Testing Conditions in Healthy Recreational Athletes. [PDF]

open access: yesJ Clin Med
Urban N   +7 more
europepmc   +1 more source

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