Collagen transport and related pathways in Osteogenesis Imperfecta.

ABSTRACT: Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far from comprehending the complete mechanism. In the last years, the advent of next generation sequencing has triggered the discovery of many new genetic causes for OI, helping to draw its molecular landscape. It has become clear that, in addition to collagen type I genes, OI can be caused by multiple proteins connected to different parts of collage

SUBMITTER: Claeys L 

PROVIDER: S-EPMC8263409 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature