New Discoveries in Osteogenesis Imperfecta

Jay R. Shapiro

Research output: Chapter in Book/Report/Conference proceedingChapter


Specific chapters in this book discuss mutations in genes associated with an OI phenotype where, to date, only one clinical example has been identified. While the majority of mutations involve genes related to type I collagen synthesis, application of new gene sequencing technology has revealed involvement in metabolic systems related to osteoblast maturation and osteoblast activity that were previously unsuspected. The purpose of this closing section of this book is to describe involvement of genes related to an osteogenesis imperfecta (OI) phenotype that were not known as development of this book progressed. The inclusion of TMEM3B and Wnt1 genotypes/phenotypes, aside from their genetic and clinical importance, merely serves to keep the door open for discoveries yet to come.

Original languageEnglish (US)
Title of host publicationOsteogenesis Imperfecta
Subtitle of host publicationA Translational Approach to Brittle Bone Disease
PublisherElsevier Inc.
Number of pages3
ISBN (Print)9780123971654
StatePublished - Sep 2013


  • Genotype
  • Osteoblast differentiation
  • Phenotype
  • TMEM3B
  • Wnt1

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)


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