Ghent University Academic Bibliography

Advanced

Osteogenesis imperfecta

Joan C Marini, Antonella Forlino, Hans Peter Bachinger, Nick J Bishop, Peter H Byers, Anne De Paepe UGent, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, et al. (2017) NATURE REVIEWS DISEASE PRIMERS. 3.
abstract
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
QUALITY-OF-LIFE, BONE MORPHOGENETIC PROTEIN-1, EHLERS-DANLOS-SYNDROME, INTRAVENOUS PAMIDRONATE THERAPY, GENOTYPE-PHENOTYPE CORRELATIONS, SCLEROSTIN ANTIBODY TREATMENT, PLACEBO-CONTROLLED TRIAL, GROWTH-FACTOR-BETA, MOUSE MODEL, I COLLAGEN
journal title
NATURE REVIEWS DISEASE PRIMERS
Nat. Rev. Dis. Primers
volume
3
article number
17052
pages
19 pages
Web of Science type
Article
Web of Science id
000408540000001
ISSN
2056-676X
DOI
10.1038/nrdp.2017.52
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8551685
handle
http://hdl.handle.net/1854/LU-8551685
date created
2018-02-23 10:13:48
date last changed
2018-05-15 09:41:43
@article{8551685,
  abstract     = {Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85\% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation.},
  articleno    = {17052},
  author       = {Marini, Joan C and Forlino, Antonella and Bachinger, Hans Peter and Bishop, Nick J and Byers, Peter H and De Paepe, Anne and Fassier, Francois and Fratzl-Zelman, Nadja and Kozloff, Kenneth M and Krakow, Deborah and Montpetit, Kathleen and Semler, Oliver},
  issn         = {2056-676X},
  journal      = {NATURE REVIEWS DISEASE PRIMERS},
  keyword      = {QUALITY-OF-LIFE,BONE MORPHOGENETIC PROTEIN-1,EHLERS-DANLOS-SYNDROME,INTRAVENOUS PAMIDRONATE THERAPY,GENOTYPE-PHENOTYPE CORRELATIONS,SCLEROSTIN ANTIBODY TREATMENT,PLACEBO-CONTROLLED TRIAL,GROWTH-FACTOR-BETA,MOUSE MODEL,I COLLAGEN},
  language     = {eng},
  pages        = {19},
  title        = {Osteogenesis imperfecta},
  url          = {http://dx.doi.org/10.1038/nrdp.2017.52},
  volume       = {3},
  year         = {2017},
}

Chicago
Marini, Joan C, Antonella Forlino, Hans Peter Bachinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, et al. 2017. “Osteogenesis Imperfecta.” Nature Reviews Disease Primers 3.
APA
Marini, J. C., Forlino, A., Bachinger, H. P., Bishop, N. J., Byers, P. H., De Paepe, A., Fassier, F., et al. (2017). Osteogenesis imperfecta. NATURE REVIEWS DISEASE PRIMERS, 3.
Vancouver
1.
Marini JC, Forlino A, Bachinger HP, Bishop NJ, Byers PH, De Paepe A, et al. Osteogenesis imperfecta. NATURE REVIEWS DISEASE PRIMERS. 2017;3.
MLA
Marini, Joan C, Antonella Forlino, Hans Peter Bachinger, et al. “Osteogenesis Imperfecta.” NATURE REVIEWS DISEASE PRIMERS 3 (2017): n. pag. Print.