Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Research Project (R01)
Project #
5R01AR041223-11
Application #
6645505
Study Section
Orthopedics and Musculoskeletal Study Section (ORTH)
Program Officer
Sharrock, William J
Project Start
1992-01-05
Project End
2006-07-31
Budget Start
2003-08-01
Budget End
2004-07-31
Support Year
11
Fiscal Year
2003
Total Cost
$304,000
Indirect Cost

  Institution

Name
University of Washington
Department
Pathology
Type
Schools of Medicine
DUNS #
605799469
City
Seattle
State
WA
Country
United States
Zip Code
98195

  Publications

Pace, James M; Wiese, Mary; Drenguis, Andrea S et al. (2008) Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. J Biol Chem 283:16061-7
Morello, Roy; Bertin, Terry K; Chen, Yuqing et al. (2006) CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291-304
Schwarze, Ulrike; Hata, Ryu-Ichiro; McKusick, Victor A et al. (2004) Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74:917-30
Persikov, Anton V; Pillitteri, Rian J; Amin, Priyal et al. (2004) Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 24:330-7
Pace, James M; Corrado, Marcella; Missero, Caterina et al. (2003) Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. Matrix Biol 22:3-14
Johnson, M T; Morrison, S; Heeger, S et al. (2002) A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. J Med Genet 39:128-32
Marlowe, A; Pepin, M G; Byers, P H (2002) Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet 39:382-6
Pace, J M; Kuslich, C D; Willing, M C et al. (2001) Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfec J Med Genet 38:443-9
Byers, P H (2001) Folding defects in fibrillar collagens. Philos Trans R Soc Lond B Biol Sci 356:151-7; discussion 157-8
Bateman, J F; Freddi, S; Lamande, S R et al. (1999) Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Hum Mutat 13:311-7

Showing the most recent 10 out of 25 publications