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법랑질 형성부전증의 분자유전학적 고찰

Molecular genetic etiology of amelogenesis imperfecta

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참고문헌 (29)

  1. Nanci A, "Ten Cate’s Oral Histology Development, Structure, and Function. Vol, 6th ed" (2003), Mosby
  2. Hu JC, "Enamel formation and amelogenesis imperfecta", Cells Tissues Organs, 186, pp.78~85 (2007)
  3. Witkop CJ,Jr, "Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification", J Oral Pathol, 17, pp.547~553 (1988)
  4. Kida M, "Autosomaldominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon- intron boundary", J Dent Res, 81, pp.738~742 (2002)
  5. Hart PS, "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature", Arch Oral Biol, 48, pp.589~596 (2003)
  6. Kim JW, "ENAM mutations in autosomal-dominant amelogenesis imperfecta", J Dent Res, 84, pp.78~282 (2005)
  7. Wright JT, "The molecular etiologies and associated phenotypes of amelogenesis imperfecta", Am J Med Genet A, 140, pp.2547~2555 (2006)
  8. Chosack A, "Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta", Oral Surg Oral Med Oral Pathol, 47, pp.148~156 (1979)
  9. Backman B, "Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county", Community Dent Oral Epidemiol, 14, pp.43~47 (1986)
  10. Sundell S, "Hereditary aspects and classification of hereditary amelogenesis imperfecta", Community Dent Oral Epidemiol, 14, pp.211~216 (1986)
  11. 박종하, "법랑질 형성 부전증에 관한 증례 보고", 대한소아치과학회지, 25, pp.598~603 (1998)
  12. 백병주, "법랑질형성부전증에 대한 증례보고", 대한소아치과학회지, 27, pp.499~504 (2000)
  13. Smith CE, "Degradation and loss of matrix proteins from developing enamel", Anat. Rec, 224, pp.292~316 (1989)
  14. Hu JC, "Developmental biology and genetics of dental malformations", Orthod Craniofac Res, 1, pp.45~52 (2007)
  15. Ikawa T, "Porcine amelogenin is expressed from the X and Y chromosomes", J Dent Res, 84, pp.144~148 (2005)
  16. Wright JT, "Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation", Eur J Oral Sci, 114Suppl 1), pp.13~17 (2006)
  17. Kim JW, "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta", J Dent Res, 83, pp.378~383 (2004)
  18. Ravassipour DB, "Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation", J Dent Res, 79, pp.1476~1481 (2000)
  19. Mardh CK, "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)", Hum Mol Genet, 11, pp.1069~1074 (2002)
  20. Hart TC, "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects", J Med Genet, 40, pp.900~906 (2003)
  21. Kim JW, "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta", J Med Genet, 42, pp.271~275 (2005)
  22. Ozdemir D, "MMP20 active- site mutation in hypomaturation amelogenesis imperfecta", J Dent Res, 84, pp.1031~1035 (2005)
  23. Papagerakis P, "Premature stop codon in MMP20 causing amelogenesis imperfecta", J Dent Res, 87, pp.56~59 (2008)
  24. Hart PS, "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta", J Med Genet, 41, pp.545~549 (2004)
  25. Price JA, "A common DLX3 gene mutation is responsible for tricho-dentoosseous syndrome in Virginia and North Carolina families", J Med Genet, 35, pp.825~828 (1998)
  26. Dong J, "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism", Am J Med Genet A, 133, pp.138~141 (2005)
  27. Wright JT, "DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome", Am J Med Genet A, 146, pp.343~349 (2008)
  28. Mendoza G, "A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3", Hum Genet, 120, pp.653~662 (2007)
  29. Kim JW, "FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta", Am J Hum Genet, 82, pp.489~494 (2008)

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