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8. Localization of a structural defect in type I procollagen in a patient affected with the severe non-lethal form of Osteogenesis imperfecta. Dyne K, Cetta G, Tenni R, Rossi A, Finardi E, Brunelli PC, Castellani AA. Ital J Biochem; 1987; 36(4):256-66. PubMed ID: 3429209 [Abstract] [Full Text] [Related]
9. Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer. Brenner RE, Nerlich A, Kirchner F, Mörike M, Terinde R, Teller WM. Am J Med Genet; 1993 Jun 15; 46(5):584-91. PubMed ID: 8322825 [Abstract] [Full Text] [Related]
10. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop DJ, Bonaventure J. J Biol Chem; 1994 May 06; 269(18):13663-9. PubMed ID: 8175802 [Abstract] [Full Text] [Related]
11. Analysis of collagen synthesis and assembly in culture by immortalized mouse chondrocytes in the presence or absence of alpha 1(IX) collagen chains. Mallein-Gerin F, Ruggiero F, Quinn TM, Bard F, Grodzinsky AJ, Olsen BR, van der Rest M. Exp Cell Res; 1995 Jul 06; 219(1):257-65. PubMed ID: 7628541 [Abstract] [Full Text] [Related]
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13. Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. Stanescu V, Maroteaux P. Pediatr Res; 1975 Oct 06; 9(10):779-82. PubMed ID: 127160 [Abstract] [Full Text] [Related]
14. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. Chen L, Yang W, Cole WG. J Orthop Res; 1996 Sep 06; 14(5):712-21. PubMed ID: 8893763 [Abstract] [Full Text] [Related]
15. Transcriptional suppression by interleukin-1 and interferon-gamma of type II collagen gene expression in human chondrocytes. Goldring MB, Fukuo K, Birkhead JR, Dudek E, Sandell LJ. J Cell Biochem; 1994 Jan 06; 54(1):85-99. PubMed ID: 8126089 [Abstract] [Full Text] [Related]
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17. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Biochem J; 1995 May 01; 307 ( Pt 3)(Pt 3):823-30. PubMed ID: 7741714 [Abstract] [Full Text] [Related]
18. Lethal osteogenesis imperfecta with amniotic band lesions: collagen studies. van der Rest M, Hayes A, Marie P, Desbarats M, Kaplan P, Glorieux FH. Am J Med Genet; 1986 Jul 01; 24(3):433-46. PubMed ID: 3728562 [Abstract] [Full Text] [Related]
19. Molecular heterogeneity in osteogenesis imperfecta type I. Willing MC, Pruchno CJ, Byers PH. Am J Med Genet; 1993 Jan 15; 45(2):223-7. PubMed ID: 8456806 [Abstract] [Full Text] [Related]