Osteogenesis imperfecta

A Forlino, JC Marini - The Lancet, 2016 - thelancet.com
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of
inherited connective tissue disorders that share similar skeletal abnormalities causing bone …

Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types

M Jovanovic, G Guterman-Ram, JC Marini - Endocrine reviews, 2022 - academic.oup.com
Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …

New perspectives on osteogenesis imperfecta

A Forlino, WA Cabral, AM Barnes… - Nature Reviews …, 2011 - nature.com
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 …

Bone's mechanostat: a 2003 update

HM Frost - The Anatomical record part a: discoveries in …, 2003 - Wiley Online Library
The still‐evolving mechanostat hypothesis for bones inserts tissue‐level realities into the
former knowledge gap between bone's organ‐level and cell‐level realities. It concerns load …

Osteogenesis imperfecta

F Rauch, FH Glorieux - The Lancet, 2004 - thelancet.com
Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass,
and other connective-tissue manifestations. The most frequently used classification outlines …

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 …

Structure and mechanical quality of the collagen–mineral nano-composite in bone

P Fratzl, HS Gupta, EP Paschalis… - Journal of materials …, 2004 - pubs.rsc.org
Bone is a hierarchically structured material with remarkable mechanical performance which
may serve as a model for the development of biomimetic materials. Understanding its …

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta

I Grafe, T Yang, S Alexander, EP Homan, C Lietman… - Nature medicine, 2014 - nature.com
Osteogenesis imperfecta (OI) is a heritable disorder, in both a dominant and recessive
manner, of connective tissue characterized by brittle bones, fractures and extraskeletal …

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 …

Osteogenesis imperfecta–a clinical update

S Tournis, AD Dede - Metabolism, 2018 - Elsevier
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 …