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 …

[HTML][HTML] 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 …

Protein folding and modification in the mammalian endoplasmic reticulum

I Braakman, NJ Bulleid - Annual review of biochemistry, 2011 - annualreviews.org
Analysis of the human genome reveals that approximately a third of all open reading frames
code for proteins that enter the endoplasmic reticulum (ER), demonstrating the importance of …

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 …

Genetics of osteoporosis

SH Ralston, AG Uitterlinden - Endocrine reviews, 2010 - academic.oup.com
Osteoporosis is a common disease with a strong genetic component characterized by
reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of …

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

J Becker, O Semler, C Gilissen, Y Li, HJ Bolz… - The American Journal of …, 2011 - cell.com
Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone
fragility and susceptibility to fractures after minimal trauma. After mutations in all known OI …

Collagen transport and related pathways in Osteogenesis Imperfecta

L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
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 …

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

HE Christiansen, U Schwarze, SM Pyott… - The American Journal of …, 2010 - cell.com
Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be
accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened …

A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

O Semler, L Garbes, K Keupp, D Swan… - The American Journal of …, 2012 - cell.com
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder
associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V …