Osteogenesis imperfecta

JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

P Trejo, F Rauch - Osteoporosis International, 2016 - Springer
Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in
children. It has been known for three decades that the majority of individuals with OI have …

Advances in the classification and treatment of osteogenesis imperfecta

IH Thomas, LA DiMeglio - Current osteoporosis reports, 2016 - Springer
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified
types attributable to inherited abnormalities in type 1 collagen amount, structure, or …

Dental panoramic indices and fractal dimension measurements in osteogenesis imperfecta children under pamidronate treatment

AC Apolinário, R Sindeaux… - Dentomaxillofacial …, 2016 - academic.oup.com
Objectives: To verify radiomorphometric indices and fractal dimension (FD) in dental
panoramic radiographs (DPRs) of children with different types of osteogenesis imperfecta …

Mesenchymal stem cells in the treatment of osteogenesis imperfecta

E Lang, JA Semon - Cell Regeneration, 2023 - Springer
Osteogenesis imperfecta (OI) is a disease caused by mutations in different genes resulting
in mild, severe, or lethal forms. With no cure, researchers have investigated the use of cell …

Pharmacological and biological therapeutic strategies for osteogenesis imperfecta

R Marom, YC Lee, I Grafe, B Lee - American Journal of Medical …, 2016 - Wiley Online Library
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility,
low bone mass, and bone deformities. The majority of cases are caused by autosomal …

[HTML][HTML] Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

RB Keller, TT Tran, SM Pyott, MG Pepin… - Genetics in …, 2018 - Elsevier
Purpose Osteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant
pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 …

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Y Sun, L Li, J Wang, H Liu, H Wang - ACS Pharmacology & …, 2024 - ACS Publications
Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness
of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities …

Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations

J Yeo, GS Jung, A Tarakanova… - Extreme Mechanics …, 2018 - Elsevier
Scleroproteins are an important category of proteins within the human body that adopt
filamentous, elongated conformations in contrast with typical globular proteins. These …

Access work: Experiences of parking at school for families living with childhood disability

T Ross, R Buliung - Transportation research part A: policy and practice, 2019 - Elsevier
The proliferation of automobility has undeniably influenced school site designs and school
transportation experiences. Using private vehicles, many parents now routinely enter and …