evidence showed that chemokines serve as pro-migratory factors for immune cells. ccl3, ccl4 and ccl5, as the main cc  chemokines subfamily members, activate immune cells through binding to cc chemokine receptor 5 or ccr5. macrophages, nk cells and t lymphocytes express ccr5 and thus, affected ccr5 expression or functions could be associated with altered immune responses. deletion of 32 base pai...

Evidence showed that chemokines serve as pro-migratory factors for immune cells. CCL3, CCL4 and CCL5, as the main CC  chemokines subfamily members, activate immune cells through binding to CC chemokine receptor 5 or CCR5. Macrophages, NK cells and T lymphocytes express CCR5 and thus, affected CCR5 expression or functions could be associated with altered immune responses. Deletion of 32 base pai...

Glycogen storage disease type II is a lysosomal storage disorder due to mutations of the GAA gene, which causes lysosomal alpha-glucosidase deficiency. Clinically, glycogen storage disease type II has been classified in infantile and late-onset forms. Most late-onset patients share the leaky splicing mutation c.-32-13T>G. To date, the mechanism by which the c.-32-13T>G mutation affects the GAA ...

Mutations in the gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the FBN1 spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24-32. We previously showed that a mutation in exons 24-32 is predictive of a severe cardiovascular phenotype even in non-neonatal cases, and that mutations leading to prem...