Long-term kidney outcomes in patients with Kabuki syndrome.

Background: This study assessed the clinical features, prevalence of kidney and urinary manifestations, and progression of chronic kidney disease (CKD) in patients with Kabuki syndrome (KS).

Methods: This retrospective cohort study enrolled patients with KS who visited a single tertiary center from 2003 to 2023.

Results: Sixty-five patients (28 boys) were diagnosed with KS at a median age of 2.

Pseudo-Isolated α-Helix Platform for the Recognition of Deep and Narrow Targets.

Although interest in stabilized α-helical peptides as next-generation therapeutics for modulating biomolecular interfaces is increasing, peptides have limited functionality and stability due to their small size. In comparison, α-helical ligands based on proteins can make steric clash with targets due to their large size. Here, we report the design of a monomeric pseudo-isolated α-helix (mPIH) system in which proteins behave as if they are peptides.

Unique behaviour of the α-helix in bending deformation.

The maximum degree of bending that can be tolerated by the rigid rod-like α-helix remains unknown; however, it should be very difficult or even impossible to make α-helices with varying degrees of curvature in folded proteins. As an experimentally tractable model, here we utilize cyclic proteins and peptides to determine the maximum possible bending in the α-helix. We artificially enforced bending in the α-helices by using variously sized macrocycles and compared the structural characteristics of the macrocycles with those of their linear counterparts.

Differences in Facial Expressions between Spontaneous and Posed Smiles: Automated Method by Action Units and Three-Dimensional Facial Landmarks.

Research on emotion recognition from facial expressions has found evidence of different muscle movements between genuine and posed smiles. To further confirm discrete movement intensities of each facial segment, we explored differences in facial expressions between spontaneous and posed smiles with three-dimensional facial landmarks. Advanced machine analysis was adopted to measure changes in the dynamics of 68 segmented facial regions.