A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder.
The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by …

Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and
includes a heterogenous group of genetic disorders which most commonly result from …

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 …

Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen
I mutations in 90% of cases. There are no comprehensive genotype–phenotype studies on> …

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a
severity ranging from subtle increase in fracture frequency to prenatal fractures. The first …

Collagen is a macromolecule that has versatile roles in physiology, ranging from structural
support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α …

Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility
and deformity and growth deficiency. Most cases of OI (classical types) have autosomal …