QUANTITATIVE AND ELECTROPHORETIC ANALYSIS OF COLLAGEN IN CULTURED FIBROBLASTS OF TWO PATIENTS WITH A MILD TYPE I OF OSTEOGENESIS IMPERFECTA DURING TREATMENT WITH BISPHOSPHONATES
Kocova M1,*, Galicka A2, Woczyñski S3, Sukarova-Angelovska E1, Stefanovska I4
*Corresponding Author: Professor Dr. Mirjana Kocova, Pediatric Clinic, Faculty of Medicine, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel: +389-2-3111-713; Fax: +389-2-3176-167; E-mail: ozonunit@unet. com.mk
page: 13

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2. Sillence DO, Senn A, Danks DM. Genetic hetero­geneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-116.

3. Malmgren B, Norgren S. Dental aberrations in chil­dren and adolescents with osteogenesis imperfecta. Acta Odontol Scand 2002; 60(2): 65-71.

4. Kuivaniemi H, Tromp G, Prockop DJ. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991; 5: 2052-2060.

5. Prockop DJ. Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 1992; 326: 540-546.

6. Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 1985; 260: 1734-1742.

7. Astrom E, Soderhall S. Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imprefecta. Arch Dis Child 2002; 86(5): 356-364.

8. Zacharin M, Bateman J. Pamidronate treatment of osteogenesis imperfecta – lack of correlation between clinical severity, age at onset of treatment, predicted col­lagen mutation and treatment response. J Pediatr Endo­crinol Metab 2002; 15(2): 163-174.

9. Antoniazzi F, Mottes M, Fraschini P, Brunelli PC, Tato L. Osteogeneis imperfecta: practical treatment guide­lines. Paediatr Drugs 2000; 2(6): 465-488.

10. Glorieux FH. Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab 2000; 13(Suppl 2): 989-992.

11. Lee YS, Low SL, Lim LA, Loke KY. Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. Eur J Pediatr 2001; 160(11) :641-644.

12. Laemmli UK. Cleavage of structural proteins dur­ing the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-685.

13. Peterkofsky B, Chojkier M, Bateman J. Determi­nation of collagen synthesis in tissue and cell culture sys­tem. In: Furthmay M, ed. Immunochemistry of the Extra­cellular Matrix. Boca Raton: CRC Press, 1982; 19-47.

14. Barsh GS, David KE, Byers PH. Type I osteo­genesis imperfecta: a non-functional allele for proa1(I) chains of type I procollagen. Proc Natl Acad Sci USA 1982; 79: 3838-3842.

 




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