Background Joint hypermobility (JHM) is a common physical trait. It may occur alone or in
combination with musculoskeletal (MSK) pain, outside or within more complex phenotypes …

Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant
negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5′ mutations …

Thoracic aortic aneurysm (TAA) is a life-threatening vascular disease frequently associated
with underlying genetic causes. An inadequate understanding of human TAA pathogenesis …

Nanofibers fabricated by a typical electrospinning technology cannot simulate the highly
ordered structure of the natural extracellular matrix, which restrict their applications in tissue …

Here we present results from FarGen Phase I exomes. This dataset is based on the FarGen
cohort, which consists of 1,541 individuals from the isolated population of the Faroe Islands …

Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI)
and, rarely, Ehlers‐Danlos syndrome (EDS) subtypes and OI‐EDS overlap syndromes …

The vast majority of reported (likely) pathogenic missense variants in the genes coding for
the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the …

Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for
hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types …

Aortic aneurysm and dissection pose fatal threats but no effective drug therapies are
available. Previous work has been directed to reduce risk factors or target key pathological …

Osteogenesis imperfecta (OI) is a genetically inherited disorder that mainly affects the bones
and causes a generalized decrease in bone mass. OI has a broad clinical spectrum ranging …