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Xiao-Fei Bai

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Open access Sep 2026

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders

Background Missense variants represent a major class of genetic variation and contribute substantially to the cause of Mendelian disorders. However, the genetic and protein properties governing their pathogenicity remain incompletely characterized. Existing variant pathogenicity databases, such as ClinVar, are enriched...

R. Song, Xiao-Fei Bai, Xiao Fan · Frontiers in Bioinformatics · 0 citations

Open access Aug 2026

Regulation of Mechanosensor PIEZO Channel Trafficking in C. elegans Germline

It is demonstrated that PEZO-1 structural integrity is essential for vesicle formation and transport; truncating either the N-terminal transmembrane domains or the C-terminal ion pore induces aberrant vesicle morphology and arrests trafficking.

Milagros Rincon Paz, Yooseong Wang, Elva Shao et al. · bioRxiv · 0 citations