Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, ...

Glutathione transferases (GSTs) are a family of multifunctional enzymes with fundamental roles in cellular detoxication. Here we report the molecular ...

It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.

These data show that geographical location plays a role in responsiveness to Msg fragments. Additionally, these fragments have utility in differentiating HIV(+) ...

A SSCP analysis and targeted sequencing approach was used for the genetic characterization of some major pathogens from a cohort of 227 people with ...

Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and ...

Both degradative and limited proteolysis are involved in physiological processes. Once activated, proteinases are controlled by endogenous inhibitors ...

The HIV capsid (CA) protein is a promising target for anti-AIDS treatment due to its critical involvement in viral replication.