Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in <i>FOXP3</i>. [PDF]
Rayes A +8 more
europepmc +1 more source
The human gut microbiome across the life course
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero +4 more
wiley +1 more source
A novel variant c.A527G in <i>ITGB4</i> leads to autosomal dominant epidermolysis bullosa in China. [PDF]
Li J +11 more
europepmc +1 more source
Degradation mechanism of the von Willebrand factor A2 domain by nattokinase
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto +3 more
wiley +1 more source
A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]
Zheng H, Zhang L, Li F.
europepmc +1 more source
Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas +6 more
wiley +1 more source
Comparative pathogenicity of very virulent and novel variant infectious bursal disease virus Egyptian strains in chickens. [PDF]
Ibrahim M +5 more
europepmc +1 more source
The physical dimensions and shape of bacterial cells define the surface area available to acquire nutrients and the volume available for synthesizing proteins and DNA. Here, we use computational systems biology to decode the importance of cell geometry as a major determinant of prokaryotic phenotype, including growth rate and metabolic efficiency. This
Ross P. Carlson +6 more
wiley +1 more source
Schimke immunoosseous dysplasia (SIOD): Delayed onset of rare disease and novel variant. [PDF]
Elshirbeny M +3 more
europepmc +1 more source
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace +6 more
wiley +1 more source

