This core has the world's largest collection of well-characterized cases of skeletal dysplasias from which a large bank of clinical information, radiographs, fixed and frozen chondroosseous tissues, cultured fibroblasts and chondrocytes, lymphoblastoid lines and banked DNA are available for clinical, morphological, biochemical, cell physiologic and molecular studies. The Registry will provide cases and biological materials to each of the four research projects in this Program Project.

Project Start
2002-05-28
Project End
2006-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
16
Fiscal Year
2002
Total Cost
$176,978
Indirect Cost
Name
Cedars-Sinai Medical Center
Department
Type
DUNS #
075307785
City
Los Angeles
State
CA
Country
United States
Zip Code
90048
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Chen, Shan; Grover, Monica; Sibai, Tarek et al. (2015) Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton. Mol Genet Metab 115:53-60
Ezgu, F; Krejci, P; Li, S et al. (2014) Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. Clin Genet 86:74-84
Grafe, Ingo; Yang, Tao; Alexander, Stefanie et al. (2014) Excessive transforming growth factor-? signaling is a common mechanism in osteogenesis imperfecta. Nat Med 20:670-5
Homan, Erica P; Lietman, Caressa; Grafe, Ingo et al. (2014) Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. PLoS Genet 10:e1004121

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