Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone
fragility and skeletal deformities. While the majority of cases are associated with pathogenic …

Bone material strength is determined by several factors, such as bone mass, matrix
composition, mineralization, architecture and shape. From a clinical perspective, bone …

Titanium and its alloys are potential materials for orthopedic implant applications due to their
appropriate biological and mechanical behavior. As biocompatibility and biomechanical …

Osteogenesis imperfecta (OI) is a rare genetic disorder commonly caused by variants of the
type I collagen genes COL1A1 and COL1A2. OI is associated with increased bone fragility …

Mendelian bone fragility disorders are caused by genetic variants that can be inherited in an
autosomal dominant, autosomal recessive or X-linked manner and have a large detrimental …

Osteocytes are the most abundant (~ 95%) cells in bone with the longest half-life (~ 25
years) in humans. In the past osteocytes have been regarded as vestigial cells in bone …

Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness
of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities …

The last few decades have been marked by the identification of numerous genes implicated
in genetic disorders, helping in the elucidation of the underlying pathophysiology of these …

BACKGROUND Women with rare diseases, such as osteogenesis imperfecta, may consider
pregnancy, although data regarding outcomes, specific risks, and management strategies …

Osteogenesis imperfecta (OI) is a hereditary bone disease in which gene mutations affect
collagen formation, leading to a weak, brittle bone phenotype that can cause severe skeletal …