Document Detail


Recessively inherited forms of osteogenesis imperfecta.
MedLine Citation:
PMID:  23145505     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The effects of these changes range from death in the perinatal period to barely increased fracture frequency and reflect different types of mutations. Introduction of bisphosphonates during the past 20 years has targeted bone fragility by decreased resorption. The recent recognition of biallelic mutations in genes that affect either collagen assembly and processing or the regulation of osteoblast development has raised hopes for therapies that would be specific for single-gene disorders and identify cellular targets in individuals with the dominant forms of OI. These hopes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the details of the collagen processing pathways.
Authors:
Peter H Byers; Shawna M Pyott
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annual review of genetics     Volume:  46     ISSN:  1545-2948     ISO Abbreviation:  Annu. Rev. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0117605     Medline TA:  Annu Rev Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  475-97     Citation Subset:  IM    
Affiliation:
Department of Pathology and.
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