A newly described hereditary cartilage debonding syndrome

Arthritis and Rheumatism

Volumn 52, Issue 10, 2005, Pages 3300-3304

  Holderbaum, D ^a   Malvitz, T ^b   Ciesielski, C J ^c   Carson, D ^c   Corr, M P ^c   Moskowitz, R W ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b Orthopaedic Associates of Grand Rapids   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTHROPATHY; ARTHROSCOPY; ARTICLE; BLOOD SAMPLING; BONE DEVELOPMENT; BONE PLATE; CARTILAGE; CASE REPORT; CHONDROPATHY; GENETIC DISORDER; HEREDITARY CARTILAGE DEBONDING SYNDROME; HIP DISEASE; HUMAN; KNEE DISEASE; MALE; MOLECULAR BIOLOGY; OSGOOD SCHLATTER DISEASE; PERTHES DISEASE; PHENOTYPE; PRIORITY JOURNAL; SHOULDER; SINGLE NUCLEOTIDE POLYMORPHISM; SPONDYLOEPIPHYSEAL DYSPLASIA;

ADOLESCENT; CARTILAGE; CARTILAGE DISEASES; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GLYCOPROTEINS; HIP JOINT; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 26844509623     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.21352     Document Type: Article

References (11)

1. Chapman KL, Briggs MD, Mortier GR. Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 2003;22:53-75.
2. Horton W, Hecht J. Chondrodysplasias. II. Disorders of cartilage matrix proteins. In: Royce PA and Steinman B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. 2nd ed. New York: Alan R. Liss, Inc.; 2002. p. 909-38.
3. Holderbaum D, Haqqi TM, Moskowitz RW. Genetics of osteoarthritis: exposing the iceberg [review]. Arthritis Rheum 1999;42: 397-405.
4. Williams CJ, Jimenez SA. Heritable diseases of cartilage caused by mutations in collagen genes. J Rheumatol 1995;22:28-33.
5. Wright G, Hughes AE, Regan M, Doherty M. Association of two loci on chromosome 2q with nodal osteoarthritis. Ann Rheum Dis 1996;55:317-9.
6. Loughlin J, Mustafa Z, Smith A, Irven C, Carr AJ, Clipsham K, et al. Linkage analysis of chromosome 2q in osteoarthritis. Rheumatology (Oxford) 2000;39:377-81.
7. Hoang B, Moos M Jr, Vukicevic S, Luyten FP. Primary structure and tissue distribution of FRZB, a novel protein related to Drosophila frizzled, suggest a role in skeletal morphogenesis. J Biol Chem 1996;271:26131-7.
8. Banyai L, Patthy L. The NTR module: domains of netrins, secreted frizzled related proteins, and type I procollagen C-proteinase enhancer protein are homologous with tissue inhibitors of metalloproteases. Protein Sci 1999;8:1636-42.
9. Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments. Am J Med Genet 2001;106:244-50.
10. Loughlin J, Dowling B, Chapman K, Marcelline L, Mustafa Z, Southam L, et al. Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females. Proc Natl Acad Sci U S A 2004;101:9757-62.
11. Enomoto-Iwamoto M, Kitagaki J, Koyama E, Tamamura Y, Wu C, Kanatani N, et al. The Wnt antagonist Frzb-1 regulates chondrocyte maturation and long bone development during limb skeletogenesis. Dev Biol 2002;251:142-56.