Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The major health consequences in osteogenesis imperfecta (OI) arise from functionally compromised bone. OI is a polygenic disease with a variable phenotype spanning mild to lethal. The majority of mutations associated with OI occur in the type I collagen encoding genes and give rise to an autosomal dominant form of the disease. Novel mutations in seven other genes involved in collagen assembly and processing and in two genes involved in cellular differentiation have recently been associated with autosomal recessive forms of OI. In this review of cellular development and function in OI, we discuss the cells relevant to the OI phenotype, their crosstalk and coupling, mutations and their consequences, and potential molecular pathways underlying the translation of genotype to phenotype.

Original languageEnglish (US)
Title of host publicationOsteogenesis Imperfecta
Subtitle of host publicationA Translational Approach to Brittle Bone Disease
PublisherElsevier Inc.
Pages45-56
Number of pages12
ISBN (Print)9780123971654
DOIs
StatePublished - Sep 1 2013

Keywords

  • Differentiation
  • Matrix feedback lineage dysregulation
  • Osteoblast
  • Osteoclast
  • Osteocyte

ASJC Scopus subject areas

  • Medicine(all)
  • Dentistry(all)

Fingerprint Dive into the research topics of 'Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta'. Together they form a unique fingerprint.

Cite this