Molecular Basis of Osteogenesis Imperfecta Type II

Bonadio, Jeff

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Type: First Independent Research Support & Transition (FIRST) Awards (R29)
• Project #: 5R29AR038473-06
• Application #: 3456734
• Study Section: Special Emphasis Panel (AMRA)
• Project Start: 1987-04-01
• Project End: 1991-07-31
• Budget Start: 1990-08-01
• Budget End: 1991-07-31
• Support Year: 6
• Fiscal Year: 1990

Institution

• Name: University of Michigan Ann Arbor
• Type: Schools of Medicine
• DUNS #: 791277940
• City: Ann Arbor
• State: MI
• Country: United States
• Zip Code: 48109

Publications

Cole, W G; Patterson, E; Bonadio, J et al. (1992) The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. J Med Genet 29:112-8

Wong, M; Lawton, T; Goetinck, P F et al. (1992) Aggrecan core protein is expressed in membranous bone of the chick embryo. Molecular and biomechanical studies of normal and nanomelia embryos. J Biol Chem 267:5592-8

Bonadio, J; Ramirez, F; Barr, M (1990) An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. J Biol Chem 265:2262-8

Patterson, E; Smiley, E; Bonadio, J (1989) RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. J Biol Chem 264:10083-7

Byers, P H; Tsipouras, P; Bonadio, J F et al. (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237-48