Amelogenesis imperfecta: Literature review.
Amelogenesis imperfecta dental enamel amelogénesis dental enamel proteins amelogenin
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Amelogenesis imperfecta (AI) corresponds to a set of hereditary disorders, which affects the enamel development in people. It affects the enamel histological structure, and the clinical appearance of the temporal and permanent teeth. AI is described by several enamel phenotypes, which includes hypoplastic, hypomaturation and hipocalcified. In this paper is presented a literature review about the genetic origin of the AI.
Hurtado, P.-M., Tobar-Tosse, F., Osorio, J., Orozco, L., & Moreno, F. (2015). Amelogenesis imperfecta: Literature review. Revista Estomatología, 23(1), 32–41. https://doi.org/10.25100/re.v23i1.2968
1. Urzúa B, Ortega A, Rodríguez L, Morales I. Análisis genético, clínico y molecular de una familia afectada con una malformación del esmalte dental. Rev Méd Chile. 2005; Volumen 23 Nº 1 2015 39 133(11):1331-40.
2. Ayers K, Drummond B, Harding W, Salis S, Liston P. Amelogenesis imperfecta - multidisciplinary management from eruption to adulthood. Review and case report. N Z Dent J. 2004; 100(4):101-4.
3. Aldred MJ, Crawford PJ, Roberts E, Thomas NS. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Genet. 1992; 90(4):413-6.
4. Belmont C, López PM. Amelogénesis imperfecta del tipo hipomaduraciónhipoplasia con taurodontismo. Rev División de Estudios de Posgrado e Investigación. 1998; 2(8):18-22.
5. Pemberton T, Mendoza G, Gee J, Patel P. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007; 35(5):324-36.
6. Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007; 2(17):1-11.
7. Holroyd I, Lench N, Winter GB. Amelogenesis imperfect in triplets: a unique family record. Br Dent J. 1995; 178:465-8.
8. Simmer JP, Hu JC. Dental enamel formation and its impact on clinical dentistry. J Dent Educ. 2001; 65(9):896- 905.
9. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJM, Hong SP, et al. Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta. Connect Tissue Res. 2003; 44(1):72-8.
10. Wright J. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006; 140(23):2547-55.
11. Hu JC-C, Yamakoshi Y. Enamelin and Autosomal-dominant Amelogenesis Imperfecta. Crit Rev Oral Biol Med. 2003; 14(6):387-98.
12. Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005; 84:1117-26.
13. Kim J, Simmer J, Hart T, Hart P, Ramaswami M, Bartlett J, et al. MMP20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005; 42(3):271- 5.
14. Urzúa B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V. Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry. Biochem Genet. 2011; 49(1- 2):104-21.
15. Phitan JC, Malmann A, Pitan SA, Costa CC. Amelogenese imperfeita: revisao de literatura e relato de caso clinico. Rev Ass Bras Odont. 2001; 10(2):88-92.
16. Jans GA, Sandoval P, Díaz JA, Vergara CV, Zaror C, Acevedo C. Amelogénesis imperfecta. A propósito de un caso. Acta Odontol Ven. 2013; 51(1).
17. Gopinath V, Al-Salihi K, Yean Yean C, Chan Li Ann M, Ravichandran M. Amelogenesis imperfecta: enamel ultra structure and molecular studies. J Clin Pediatr Dent. 2004; 28(4):319-22.
18. Leme MC, Peres SR. The genetics of amelogenesis imperfecta: a review of the literature. J App Oral Sci. 2005; 13(3):212- 7.
19. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classifications. J Oral Pathol. 1988; 17: 547-53.
20. Calero JA, Soto L. Amelogénesis imperfecta. Informe de tres casos en una familia en Cali, Colombia. Colomb Med. 2005; 36 (Supl 3):47-50.
21. Lesot H, Brook AH. Epithelial histogenesis during tooth development. Arch Oral Biol. 2009; 54 (Suppl 1):25-33.
22. Ruch JV, Lesot H, Begue-Kin C. Odontoblast differentiation. Int J Dev Biol. 1995; 39:51-68.
23. Ten Cate AR. Histología Oral: Desarrollo, Estructura y Función. Segunda Edición. Editorial Médica Panamericana: Buenos Aires; 1986.
24. Gómez de Ferrais ME, Campos A. Histología y embriología bucodental. Segunda edición. Editorial Médica Panamericana: México; 2002.
25. Garant PR. Oral cells and Tissues. Quintessence Books: Chicago; 2003.
26. Fincham AG, Moradian-Oldak J, Simmer JP. The structural biology of the developing dental enamel matrix. J Struct Biol. 1999; 126(3):270-99.
27. Simmer JP, Fincham AG. Molecular mechanisms of dental enamel formation. Crit Rev Oral Biol. 1995; 6(2):84-108.
28. Simmer JP, Hu JC. Expression, structure, and function of enamel proteinases. Connect Tissue Res. 2002; 43(2-3):441-9.
29. Robinson C, Kirkham J, Brookes SJ, Bonass WA, Shore RC. The chemistry of enamel development. Int J Dev Biol. 1995; 39:145-52.
30. Kawasaki K, Suzuki T, Weiss KM. Genetic basis for the evolution of vertebrate mineralized tissue. PNAS. 2004; 101(31): 11356-61.
31. Wilt FH. Developmental biology meets materials science: Morphogenesis of biomineralized structures. Dev Biol. 2005; 280:15-25.
32. Woltgens JHM, Lyaruu DM, Bronckers ALJ, Bervoets TJM, Van Duin M. Biomineralization during early stages of the developing tooth in vitro with special reference to secretory stage of amelogenesis. Int J Dev Biol. 1995; 39:203-12.
33. Veis A. Mineralization in organic matrix frameworks. RIMG. 2003; 54:249-89.
34. Brookes SJ, Robinson C, Kirkham J, Bonass WA. Biochemistry and molecular biology of amelogenina proteins of developing dental enamel. Archs Oral Biol. 1995; 40(1):1-14.
35. Zeichner-David M, Diekwisch T, Fincham A, Lau E, MacDougall M, MoradianOldak J, Simmer J, Snead M, Slavkin HC. Control of ameloblast differentiation. Int J Dev Biol. 1995; 39:69-92.
36. Slavkin HC, Diekwisch T. Evolution in tooth developmental biology: of morphology and molecules. Anat Rec. 1996; 245:131-50.
37. Sasaki S, Shimokawa H. The amelogenin gene. Int J Dev Biol. 1995; 39: 127-33.
38. Girondot M, Sire J-Y. Evolution of the amelogenin gene in toothed and toothless vertebrates. Eur J Oral Sci. 1998; 106:501- 8.
39. Toyosawa S, O’huigin C, Figueroa F, Tichy H, Klein J. Evolution, Identification and characterization of amelogenin genes in monotremes, reptiles, and amphibians (tooth formationyevolutionary innovations). PNAS. 1998; 95:13056-61.
40. Mathur AK, Polly PD. The evolution of enamel microstructure: how important is amelogenin? J Mamm Evol. 2000; 7(1):23-42.
41. Delgado S, Casane D, Bonnaud L, Laurin M, Sire J-Y, Girondot M. Molecular evidence for Precambrian origin of amelogenin, the major protein of vertebrate enamel. Mol Biol Evol. 2001; 18(12):2146-53.
42. Deutsch D, Palmon A, Dafni L, CatalanoSherman J, Young MF, Fisher LW. The enamelin (tuftelin) gene. Int J Dev Biol. 1995; 39:135-43.
43. Snead ML, Lau EC, Zeichner-David M, Fincham AG, Woo SL, Slavkin HC. DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein. Biochem Biophys Res Commun. 1985; 129(3):812-8.
44. Hu CC, Fukae M, Uchida T, Qian Q, Zhang CH, Ryu OH, et al. Cloning and characterization of porcine enamelin mRNAs. J Dent Res. 1997; 76(11):1720-9.
45. Aldred MJ, Savarirayan R, Crawford PJM. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Diseases. 2003; 9(1):19-23.
46. Varela MB, Botella JM, García MB, García F. Amelogenesis imperfecta: revisión. Cient Dent. 2008; 5(3):239-46.
47. Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol. 2003; 48(8):589-96.
48. Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet. 1992; 50(2):303-16.
49. Lagerstrom-Fermer M, Nilsson M, Backman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics. 1995; 26(1):159-62.
50. Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamande SR, Lench NJ, Crawford PJ. Molecular analysis for genetic counselling in amelogenesis imperfecta. Oral Dis. 2002; 8(5):249-53.
51. Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis i m p e r f e c t a p h e n o t y p e - g e n o t y p e correlations with two amelogenin gene mutations. Arch Oral Biol. 2002; 47(4):261-5.
52. Collier PM, Sauk JJ, Rosenbloom SJ, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Arch Oral Biol. 1997; 42(3):235-42.
53. Lench NJ, Winter GB. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mutat. 1995; 5(3):251-9.
54. Fukumoto S, Kiba T, Hall B, Iehara N, Nakamura T, Longenecker G, et al. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol. 2004; 167(5):973-83.
55. Paine ML, Wang HJ, Luo W, Krebsbach PH, Snead ML. A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression. J Biol Chem. 2003; 278(21):19447-52.
56. Li W, Gibson CW, Abrams WR, Andrews DW, DenBesten PK. Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfecta. Matrix Biol. 2001; 19(8):755-60.
57. Caterina JJ, Skobe Z, Shi J, Ding Y, Simmer JP, Birkedal-Hansen H, Bartlett JD. Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2002; 277(51):49598-604.
58. Li W, Gao C, Yan Y, DenBesten P. X-linked amelogenesis imperfecta may result from decreased formation of tyrosine rich amelogenin peptide (TRAP). Arch Oral Biol. 2003; 3:177-83.
59. Turkün L. Conservative restoration with resin composites of a case of amelogenesis imperfecta. Int Dent J. 2005; 55(1):38-41.
60. Imbeni V, Kruzic JJ, Marshal GW, Marshal SJ, Ritchie RO. The dentin-enamel junction and the fracture of human teeth. Nat Mater. 2005; 229-32.
61. Smith TM, Olejniczak AJ, Reid DJ, Ferrell RJ. Hublin Modern human molar enamel thickness and enamel-dentine junction shape. Arch Oral Biol. 2006; 51:974-95.
62. Radlanski RJ, Renz H. Insular dentin formation pattern in human odontogenesis in relation to the scalloped dentino-enamel junction. Ann Anat. 2007; 189:243-50.
63. Gil-Chavarría I, García-García R, ReyesGasga J. Comportamiento estructural de la unión esmalte- dentina en dientes humanos: un modelo mecánico-funcional. Acta Microsc. 2008; 17(1):34-47.
64. Moreno F, Ortiz M, Mejía C. Métodos de separación y técnicas de observación microscópica de la unión amelodentinaria: revisión sistemática de la literatura. Univ Odontol. 2013; 32(69):19-34.
65. Brauer DS, Marshall GW, Marshall SJ. Variations in human DEJ scallop size with tooth type. J Dent. 2010; 38(7):597-601.
66. Chan YL, Ngan AHW, King NM. Nanoscale structure and mechanical properties of the human dentine-enamel junction. J Mech Behav Biomed Mater. 2011; 4(5):785-95.
67. Wright JT, Hall KI, Yamauch M. The enamel proteins in human amelogénesis Imperfecta. Archs oral Biol. 1997; 42(2):149-59.
68. Pavlič A, Škraba P, Kosec L, Petelin M, Alaluusua S. Microhardness and microstructure of deciduous enamel with different types of amelogenesis imperfect. Cent Eur J Med. 2007; 2(4): 511-27.
69. Grippo J, Simring M, Schereiner S. Attrition, abrasion, corrosion and abfraction revisited. A new perspective on tooth surface lesions. JADA. 2004; 135(8):1109-18.
70. Sánchez-Quevedo MC, García JM, Rodríguez IA, Gómez de Ferraris ME, Campos A. Scanning electron microscopy and calcification in amelogénesis imperfecta in anterior and posterior human teeth. Histol Histopathol. 2001; 16:827-32.
71. Brenes A, Montero O. Abordaje Volumen 23 Nº 1 2015 41 interdisciplinario de tres hermanas con Amelogénesis imperfecta: Reporte de Caso. Publicación Científica Facultad de Odontología. 2012; 10:85-90.
72. Cogulu D, Becerik S, Emingil G, Hart P, Hart T. Oral rehabilitation of a patient with amelogenesis imperfecta. Pediatr Dent. 2009; 31(7):523-7.
73. Sapir S, Shapira J. Clinical solutions for developmental defects of enamel and dentin in children. Pediatr Dent. 2007; 29(4):330-6.
74. Ng F, Messer L. Dental management of amelogenesis imperfecta patients: a primer on genotype-phenotype correlations. Pediatr Dent. 2009; 31(1):20-30.
75. Luzzi V, Bossù M, Cavallè E, Ottolenghi L, Polimeni A. Case report: clinical management of hypoplastic amelogenesis imperfecta. Eur J Paediatr Dent. 2003; 4(3):149-54.
76. Takagi Y, Fujita H, Katano H, Shimokawa H, Kuroda T. Immunochemical and biochemical characteristics of enamel proteins in hypocalcified amelogenesis imperfect. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998; 85:424-30.
2. Ayers K, Drummond B, Harding W, Salis S, Liston P. Amelogenesis imperfecta - multidisciplinary management from eruption to adulthood. Review and case report. N Z Dent J. 2004; 100(4):101-4.
3. Aldred MJ, Crawford PJ, Roberts E, Thomas NS. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Genet. 1992; 90(4):413-6.
4. Belmont C, López PM. Amelogénesis imperfecta del tipo hipomaduraciónhipoplasia con taurodontismo. Rev División de Estudios de Posgrado e Investigación. 1998; 2(8):18-22.
5. Pemberton T, Mendoza G, Gee J, Patel P. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007; 35(5):324-36.
6. Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007; 2(17):1-11.
7. Holroyd I, Lench N, Winter GB. Amelogenesis imperfect in triplets: a unique family record. Br Dent J. 1995; 178:465-8.
8. Simmer JP, Hu JC. Dental enamel formation and its impact on clinical dentistry. J Dent Educ. 2001; 65(9):896- 905.
9. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJM, Hong SP, et al. Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta. Connect Tissue Res. 2003; 44(1):72-8.
10. Wright J. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006; 140(23):2547-55.
11. Hu JC-C, Yamakoshi Y. Enamelin and Autosomal-dominant Amelogenesis Imperfecta. Crit Rev Oral Biol Med. 2003; 14(6):387-98.
12. Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005; 84:1117-26.
13. Kim J, Simmer J, Hart T, Hart P, Ramaswami M, Bartlett J, et al. MMP20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005; 42(3):271- 5.
14. Urzúa B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V. Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry. Biochem Genet. 2011; 49(1- 2):104-21.
15. Phitan JC, Malmann A, Pitan SA, Costa CC. Amelogenese imperfeita: revisao de literatura e relato de caso clinico. Rev Ass Bras Odont. 2001; 10(2):88-92.
16. Jans GA, Sandoval P, Díaz JA, Vergara CV, Zaror C, Acevedo C. Amelogénesis imperfecta. A propósito de un caso. Acta Odontol Ven. 2013; 51(1).
17. Gopinath V, Al-Salihi K, Yean Yean C, Chan Li Ann M, Ravichandran M. Amelogenesis imperfecta: enamel ultra structure and molecular studies. J Clin Pediatr Dent. 2004; 28(4):319-22.
18. Leme MC, Peres SR. The genetics of amelogenesis imperfecta: a review of the literature. J App Oral Sci. 2005; 13(3):212- 7.
19. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classifications. J Oral Pathol. 1988; 17: 547-53.
20. Calero JA, Soto L. Amelogénesis imperfecta. Informe de tres casos en una familia en Cali, Colombia. Colomb Med. 2005; 36 (Supl 3):47-50.
21. Lesot H, Brook AH. Epithelial histogenesis during tooth development. Arch Oral Biol. 2009; 54 (Suppl 1):25-33.
22. Ruch JV, Lesot H, Begue-Kin C. Odontoblast differentiation. Int J Dev Biol. 1995; 39:51-68.
23. Ten Cate AR. Histología Oral: Desarrollo, Estructura y Función. Segunda Edición. Editorial Médica Panamericana: Buenos Aires; 1986.
24. Gómez de Ferrais ME, Campos A. Histología y embriología bucodental. Segunda edición. Editorial Médica Panamericana: México; 2002.
25. Garant PR. Oral cells and Tissues. Quintessence Books: Chicago; 2003.
26. Fincham AG, Moradian-Oldak J, Simmer JP. The structural biology of the developing dental enamel matrix. J Struct Biol. 1999; 126(3):270-99.
27. Simmer JP, Fincham AG. Molecular mechanisms of dental enamel formation. Crit Rev Oral Biol. 1995; 6(2):84-108.
28. Simmer JP, Hu JC. Expression, structure, and function of enamel proteinases. Connect Tissue Res. 2002; 43(2-3):441-9.
29. Robinson C, Kirkham J, Brookes SJ, Bonass WA, Shore RC. The chemistry of enamel development. Int J Dev Biol. 1995; 39:145-52.
30. Kawasaki K, Suzuki T, Weiss KM. Genetic basis for the evolution of vertebrate mineralized tissue. PNAS. 2004; 101(31): 11356-61.
31. Wilt FH. Developmental biology meets materials science: Morphogenesis of biomineralized structures. Dev Biol. 2005; 280:15-25.
32. Woltgens JHM, Lyaruu DM, Bronckers ALJ, Bervoets TJM, Van Duin M. Biomineralization during early stages of the developing tooth in vitro with special reference to secretory stage of amelogenesis. Int J Dev Biol. 1995; 39:203-12.
33. Veis A. Mineralization in organic matrix frameworks. RIMG. 2003; 54:249-89.
34. Brookes SJ, Robinson C, Kirkham J, Bonass WA. Biochemistry and molecular biology of amelogenina proteins of developing dental enamel. Archs Oral Biol. 1995; 40(1):1-14.
35. Zeichner-David M, Diekwisch T, Fincham A, Lau E, MacDougall M, MoradianOldak J, Simmer J, Snead M, Slavkin HC. Control of ameloblast differentiation. Int J Dev Biol. 1995; 39:69-92.
36. Slavkin HC, Diekwisch T. Evolution in tooth developmental biology: of morphology and molecules. Anat Rec. 1996; 245:131-50.
37. Sasaki S, Shimokawa H. The amelogenin gene. Int J Dev Biol. 1995; 39: 127-33.
38. Girondot M, Sire J-Y. Evolution of the amelogenin gene in toothed and toothless vertebrates. Eur J Oral Sci. 1998; 106:501- 8.
39. Toyosawa S, O’huigin C, Figueroa F, Tichy H, Klein J. Evolution, Identification and characterization of amelogenin genes in monotremes, reptiles, and amphibians (tooth formationyevolutionary innovations). PNAS. 1998; 95:13056-61.
40. Mathur AK, Polly PD. The evolution of enamel microstructure: how important is amelogenin? J Mamm Evol. 2000; 7(1):23-42.
41. Delgado S, Casane D, Bonnaud L, Laurin M, Sire J-Y, Girondot M. Molecular evidence for Precambrian origin of amelogenin, the major protein of vertebrate enamel. Mol Biol Evol. 2001; 18(12):2146-53.
42. Deutsch D, Palmon A, Dafni L, CatalanoSherman J, Young MF, Fisher LW. The enamelin (tuftelin) gene. Int J Dev Biol. 1995; 39:135-43.
43. Snead ML, Lau EC, Zeichner-David M, Fincham AG, Woo SL, Slavkin HC. DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein. Biochem Biophys Res Commun. 1985; 129(3):812-8.
44. Hu CC, Fukae M, Uchida T, Qian Q, Zhang CH, Ryu OH, et al. Cloning and characterization of porcine enamelin mRNAs. J Dent Res. 1997; 76(11):1720-9.
45. Aldred MJ, Savarirayan R, Crawford PJM. Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Diseases. 2003; 9(1):19-23.
46. Varela MB, Botella JM, García MB, García F. Amelogenesis imperfecta: revisión. Cient Dent. 2008; 5(3):239-46.
47. Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol. 2003; 48(8):589-96.
48. Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet. 1992; 50(2):303-16.
49. Lagerstrom-Fermer M, Nilsson M, Backman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics. 1995; 26(1):159-62.
50. Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamande SR, Lench NJ, Crawford PJ. Molecular analysis for genetic counselling in amelogenesis imperfecta. Oral Dis. 2002; 8(5):249-53.
51. Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis i m p e r f e c t a p h e n o t y p e - g e n o t y p e correlations with two amelogenin gene mutations. Arch Oral Biol. 2002; 47(4):261-5.
52. Collier PM, Sauk JJ, Rosenbloom SJ, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Arch Oral Biol. 1997; 42(3):235-42.
53. Lench NJ, Winter GB. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mutat. 1995; 5(3):251-9.
54. Fukumoto S, Kiba T, Hall B, Iehara N, Nakamura T, Longenecker G, et al. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol. 2004; 167(5):973-83.
55. Paine ML, Wang HJ, Luo W, Krebsbach PH, Snead ML. A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression. J Biol Chem. 2003; 278(21):19447-52.
56. Li W, Gibson CW, Abrams WR, Andrews DW, DenBesten PK. Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfecta. Matrix Biol. 2001; 19(8):755-60.
57. Caterina JJ, Skobe Z, Shi J, Ding Y, Simmer JP, Birkedal-Hansen H, Bartlett JD. Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2002; 277(51):49598-604.
58. Li W, Gao C, Yan Y, DenBesten P. X-linked amelogenesis imperfecta may result from decreased formation of tyrosine rich amelogenin peptide (TRAP). Arch Oral Biol. 2003; 3:177-83.
59. Turkün L. Conservative restoration with resin composites of a case of amelogenesis imperfecta. Int Dent J. 2005; 55(1):38-41.
60. Imbeni V, Kruzic JJ, Marshal GW, Marshal SJ, Ritchie RO. The dentin-enamel junction and the fracture of human teeth. Nat Mater. 2005; 229-32.
61. Smith TM, Olejniczak AJ, Reid DJ, Ferrell RJ. Hublin Modern human molar enamel thickness and enamel-dentine junction shape. Arch Oral Biol. 2006; 51:974-95.
62. Radlanski RJ, Renz H. Insular dentin formation pattern in human odontogenesis in relation to the scalloped dentino-enamel junction. Ann Anat. 2007; 189:243-50.
63. Gil-Chavarría I, García-García R, ReyesGasga J. Comportamiento estructural de la unión esmalte- dentina en dientes humanos: un modelo mecánico-funcional. Acta Microsc. 2008; 17(1):34-47.
64. Moreno F, Ortiz M, Mejía C. Métodos de separación y técnicas de observación microscópica de la unión amelodentinaria: revisión sistemática de la literatura. Univ Odontol. 2013; 32(69):19-34.
65. Brauer DS, Marshall GW, Marshall SJ. Variations in human DEJ scallop size with tooth type. J Dent. 2010; 38(7):597-601.
66. Chan YL, Ngan AHW, King NM. Nanoscale structure and mechanical properties of the human dentine-enamel junction. J Mech Behav Biomed Mater. 2011; 4(5):785-95.
67. Wright JT, Hall KI, Yamauch M. The enamel proteins in human amelogénesis Imperfecta. Archs oral Biol. 1997; 42(2):149-59.
68. Pavlič A, Škraba P, Kosec L, Petelin M, Alaluusua S. Microhardness and microstructure of deciduous enamel with different types of amelogenesis imperfect. Cent Eur J Med. 2007; 2(4): 511-27.
69. Grippo J, Simring M, Schereiner S. Attrition, abrasion, corrosion and abfraction revisited. A new perspective on tooth surface lesions. JADA. 2004; 135(8):1109-18.
70. Sánchez-Quevedo MC, García JM, Rodríguez IA, Gómez de Ferraris ME, Campos A. Scanning electron microscopy and calcification in amelogénesis imperfecta in anterior and posterior human teeth. Histol Histopathol. 2001; 16:827-32.
71. Brenes A, Montero O. Abordaje Volumen 23 Nº 1 2015 41 interdisciplinario de tres hermanas con Amelogénesis imperfecta: Reporte de Caso. Publicación Científica Facultad de Odontología. 2012; 10:85-90.
72. Cogulu D, Becerik S, Emingil G, Hart P, Hart T. Oral rehabilitation of a patient with amelogenesis imperfecta. Pediatr Dent. 2009; 31(7):523-7.
73. Sapir S, Shapira J. Clinical solutions for developmental defects of enamel and dentin in children. Pediatr Dent. 2007; 29(4):330-6.
74. Ng F, Messer L. Dental management of amelogenesis imperfecta patients: a primer on genotype-phenotype correlations. Pediatr Dent. 2009; 31(1):20-30.
75. Luzzi V, Bossù M, Cavallè E, Ottolenghi L, Polimeni A. Case report: clinical management of hypoplastic amelogenesis imperfecta. Eur J Paediatr Dent. 2003; 4(3):149-54.
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