Centromere protein H (CENP-H) is an important component of a functional centromere. Studies have demonstrated that CENP-H is overexpressed in renal cell, gastric, hypopharyngeal squamous cell, ...

The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also ...

Wiskott-Aldrich syndrome (WAS) is an immune pathology associated with mutations in WAS protein (WASp) or in WASp interacting protein (WIP). Together with the small GTPase Cdc42 and other effectors, ...