At least 150 human proteins are glycosylphosphatidylinositol-anchored proteins (GPI-APs).
The protein moiety of GPI-APs lacking transmembrane domains is anchored to the plasma …

Post-translational modifications (PTM) involve enzyme-mediated covalent addition of
functional groups to proteins during or after synthesis. These modifications greatly increase …

A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …

Glycosylphosphatidylinositol (GPI) is a glycolipid membrane anchor found on surface
proteins in all eukaryotes. It is synthesized in the ER membrane. Each GPI anchor requires …

Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it
has only been accessible for bioinformatics workflows after encoding into clinical terms by …

An increasing number of genetic syndromes present a challenge to clinical geneticists. A
deep learning-based diagnosis assistance system, Face2Gene, utilizes the aggregation of …

Background Collectively, an estimated 5% of the population have a genetic disease. Many
of them feature characteristics that can be detected by facial phenotyping. Face2Gene …

With recent advances in computer vision, many applications based on artificial intelligence
have been developed to facilitate the diagnosis of rare genetic disorders through the …

The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and
is present on every cell type. Many of these proteins play crucial roles in neuronal …