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Volumn 35, Issue 3, 2012, Pages 557-566

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

Author keywords

Amelogenesis imperfecta; ENAM gene; Hypocalcified; Hypoplasic; Phenotype

Indexed keywords

ENAMELIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 84865374079     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572012000400003     Document Type: Article
Times cited : (8)

References (43)
  • 1
    • 0031151250 scopus 로고
    • Congenital hypodontia of lateral incisor in association with coloboma of the iris and hypomaduration type of amelogenesis imperfecta in a large kindred
    • Atasu M and Eryilmaz A (1987) Congenital hypodontia of lateral incisor in association with coloboma of the iris and hypomaduration type of amelogenesis imperfecta in a large kindred. J Clin Pediatr Dent 21:341-355.
    • (1987) J Clin Pediatr Dent , vol.21 , pp. 341-355
    • Atasu, M.1    Eryilmaz, A.2
  • 2
    • 0023750395 scopus 로고
    • Amelogenesis imperfecta: A genetic study
    • Backman B and Holmgren G (1988) Amelogenesis imperfecta: A genetic study. Hum Hered 38:189-206.
    • (1988) Hum Hered , vol.38 , pp. 189-206
    • Backman, B.1    Holmgren, G.2
  • 3
    • 0024316630 scopus 로고
    • Amelogenesis imperfecta: A scanning electron microscopic and microradiographic study
    • Backman B, Anneroth G and Horstedt P (1989) Amelogenesis imperfecta: A scanning electron microscopic and microradiographic study. Oral Pathol 18:140-145.
    • (1989) Oral Pathol , vol.18 , pp. 140-145
    • Backman, B.1    Anneroth, G.2    Horstedt, P.3
  • 7
    • 0025289832 scopus 로고
    • The nature and mechanisms of dental fluorosis in man
    • Fejerskov O, Manji F and Baelum V (1990) The nature and mechanisms of dental fluorosis in man. J Dent Res 69:692-700.
    • (1990) J Dent Res , vol.69 , pp. 692-700
    • Fejerskov, O.1    Manji, F.2    Baelum, V.3
  • 8
    • 0023590846 scopus 로고
    • Nonamelogenin components of porcine enamel in the protein fraction free from the enamel crystals
    • Fukae M and Tanabe T (1987b) Nonamelogenin components of porcine enamel in the protein fraction free from the enamel crystals. Calcif Tissue Int 40:286-293.
    • (1987) Calcif Tissue Int , vol.40 , pp. 286-293
    • Fukae, M.1    Tanabe, T.2
  • 9
    • 33947158110 scopus 로고    scopus 로고
    • Identification of a novel mutation in the enamelin gene in a family with autosomal-dominant amelogenesis imperfecta
    • Gutiérrez SJ, Chaves M, Torres D and Briceño I (2007) Identification of a novel mutation in the enamelin gene in a family with autosomal-dominant amelogenesis imperfecta. Arch Oral Biol 52:503-506.
    • (2007) Arch Oral Biol , vol.52 , pp. 503-506
    • Gutiérrez, S.J.1    Chaves, M.2    Torres, D.3    Briceño, I.4
  • 11
    • 0038644188 scopus 로고    scopus 로고
    • Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature
    • Hart PS, Michalec MD, Seow WK, Hart TC and Wright JT (2003) Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol 48:589-596.
    • (2003) Arch Oral Biol , vol.48 , pp. 589-596
    • Hart, P.S.1    Michalec, M.D.2    Seow, W.K.3    Hart, T.C.4    Wright, J.T.5
  • 12
    • 0031066027 scopus 로고    scopus 로고
    • Sheathlin: Cloning cDNA/polypeptide sequences and immunolocalization of porcine enamel sheath proteins
    • Hu CC, Fukae M, Uchida T, Qian Q, Zhang CH and Ryu OH (1997) Sheathlin: Cloning cDNA/polypeptide sequences and immunolocalization of porcine enamel sheath proteins. J Dent Res 76:648-657.
    • (1997) J Dent Res , vol.76 , pp. 648-657
    • Hu, C.C.1    Fukae, M.2    Uchida, T.3    Qian, Q.4    Zhang, C.H.5    Ryu, O.H.6
  • 13
    • 0034439816 scopus 로고    scopus 로고
    • Cloning of human enamelin cDNA, chromosomal localization and analysis of expression during tooth formation
    • Hu CC, Hart TC, Dupont BR, Chen JJ, Sun X and Qian Q (2000) Cloning of human enamelin cDNA, chromosomal localization and analysis of expression during tooth formation. J Dent Res 79:912-919.
    • (2000) J Dent Res , vol.79 , pp. 912-919
    • Hu, C.C.1    Hart, T.C.2    Dupont, B.R.3    Chen, J.J.4    Sun, X.5    Qian, Q.6
  • 16
    • 0642275691 scopus 로고    scopus 로고
    • Enamelin and autosomal-dominant amelogenesis imperfecta
    • Hu JC and Yamakoshi Y (2003) Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med 6:387-398.
    • (2003) Crit Rev Oral Biol Med , vol.6 , pp. 387-398
    • Hu, J.C.1    Yamakoshi, Y.2
  • 17
    • 77049203774 scopus 로고
    • Über Aplasie des Zahnschmelzes unter besonderer Berücksichtigung der prothetischen Versorgung
    • Issel P (1955) Über Aplasie des Zahnschmelzes unter besonderer Berücksichtigung der prothetischen Versorgung. Zahnärztl Rundschau 64:165.
    • (1955) Zahnärztl Rundschau , vol.64 , pp. 165
    • Issel, P.1
  • 19
    • 0036827621 scopus 로고    scopus 로고
    • Autosomal dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exonintron boundary
    • Kida M, Ariga T, Shirakawa T, Oguchi H and Sakiyama Y (2002) Autosomal dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exonintron boundary. J Dent Res 81:738-742.
    • (2002) J Dent Res , vol.81 , pp. 738-742
    • Kida, M.1    Ariga, T.2    Shirakawa, T.3    Oguchi, H.4    Sakiyama, Y.5
  • 23
    • 0036566265 scopus 로고    scopus 로고
    • A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)
    • Mardh CK, Backman B, Golgren G, Hu JCC, Simmer JP and Forsman-Semb K (2002) A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 11:1069-1074.
    • (2002) Hum Mol Genet , vol.11 , pp. 1069-1074
    • Mardh, C.K.1    Backman, B.2    Golgren, G.3    Hu, J.C.C.4    Simmer, J.P.5    Forsman-Semb, K.6
  • 24
    • 20044387208 scopus 로고    scopus 로고
    • Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)
    • Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J and Shimizu A (2005) Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). Hum Mol Genet 14:575-583.
    • (2005) Hum Mol Genet , vol.14 , pp. 575-583
    • Masuya, H.1    Shimizu, K.2    Sezutsu, H.3    Sakuraba, Y.4    Nagano, J.5    Shimizu, A.6
  • 25
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cell
    • Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cell. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 27
    • 33846242981 scopus 로고    scopus 로고
    • Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG
    • Pavlic A, PetelinMand Battelino T (2007) Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. Arch Oral Biol 52:209-217.
    • (2007) Arch Oral Biol , vol.52 , pp. 209-217
    • Pavlic, A.1    Petelin, M.2    Battelino, T.3
  • 28
    • 0020263991 scopus 로고
    • Facial morphology and open bite deformity in amelogenesis imperfecta
    • PerssonMand Sundell S (1982) Facial morphology and open bite deformity in amelogenesis imperfecta. Acta Odontol Scand 40:135-144.
    • (1982) Acta Odontol Scand , vol.40 , pp. 135-144
    • Persson, M.1    Sundell, S.2
  • 29
    • 0035280163 scopus 로고    scopus 로고
    • Amelogenesis imperfecta: Diagnosis and resolution of a case with hypoplasia and hypocalcification of enamel, dental agenesis, and skeletal open bite
    • Pulgar ER, Espona-Garcia I and Navajas JM (2001) Amelogenesis imperfecta: Diagnosis and resolution of a case with hypoplasia and hypocalcification of enamel, dental agenesis, and skeletal open bite. Quintessence Int 32:183-189.
    • (2001) Quintessence Int , vol.32 , pp. 183-189
    • Pulgar, E.R.1    Espona-Garcia, I.2    Navajas, J.M.3
  • 30
    • 0035422249 scopus 로고    scopus 로고
    • Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
    • Rajpar MH, Harley K, Laing C, Davies RM and Dixon MJ (2001) Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 10:1673-1677.
    • (2001) Hum Mol Genet , vol.10 , pp. 1673-1677
    • Rajpar, M.H.1    Harley, K.2    Laing, C.3    Davies, R.M.4    Dixon, M.J.5
  • 31
    • 0034444658 scopus 로고    scopus 로고
    • Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation
    • Ravassipour DB, Hart S, Hart TC, Ritter AV, Yamauchi RM and Gibson C (2000) Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 79:1476-1481.
    • (2000) J Dent Res , vol.79 , pp. 1476-1481
    • Ravassipour, D.B.1    Hart, S.2    Hart, T.C.3    Ritter, A.V.4    Yamauchi, R.M.5    Gibson, C.6
  • 32
    • 0020103498 scopus 로고
    • An investigation of the association between anterior open bite and amelogenesis imperfect
    • Rowley R, Hill FJ and Winter GB (1982) An investigation of the association between anterior open bite and amelogenesis imperfect. Am J Orthod 81:229-235.
    • (1982) Am J Orthod , vol.81 , pp. 229-235
    • Rowley, R.1    Hill, F.J.2    Winter, G.B.3
  • 33
    • 84865365721 scopus 로고
    • Erbbedingte Strukturanomalien menschlicher Zähne
    • Schulze C (1957) Erbbedingte Strukturanomalien menschlicher Zähne. Acta Genet 7:23-35.
    • (1957) Acta Genet , vol.7 , pp. 23-35
    • Schulze, C.1
  • 34
    • 0027202459 scopus 로고
    • Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta
    • Seow WK (1993) Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. Clin Genet 43:240-246.
    • (1993) Clin Genet , vol.43 , pp. 240-246
    • Seow, W.K.1
  • 35
    • 0017941196 scopus 로고
    • Enamel opacities: Prevalence, classification and aetiological considerations
    • Small BW and Murray J (1978) Enamel opacities: Prevalence, classification and aetiological considerations. J Dent 6:33-42.
    • (1978) J Dent , vol.6 , pp. 33-42
    • Small, B.W.1    Murray, J.2
  • 36
    • 33644788720 scopus 로고    scopus 로고
    • Genes and related proteins involved in amelogenesis imperfecta
    • Stephanopoulos G, Garefalaki ME and Lyroudia K (2005) Genes and related proteins involved in amelogenesis imperfecta. J Dent Res 84:1117-1126.
    • (2005) J Dent Res , vol.84 , pp. 1117-1126
    • Stephanopoulos, G.1    Garefalaki, M.E.2    Lyroudia, K.3
  • 37
    • 0025176587 scopus 로고
    • Properties of phosphorylated 32-kDa non-amelogenin proteins isolated from porcine secretory enamel
    • Tanabe T, Aoba T, Moreno EC, Fukae M and Shimizu M (1990) Properties of phosphorylated 32-kDa non-amelogenin proteins isolated from porcine secretory enamel. Calcif Tissue Int 46:205-215.
    • (1990) Calcif Tissue Int , vol.46 , pp. 205-215
    • Tanabe, T.1    Aoba, T.2    Moreno, E.C.3    Fukae, M.4    Shimizu, M.5
  • 38
    • 0026332564 scopus 로고
    • Immunocytochemical, immunochemical detection of a 32-kDa non amelogenin and related proteins in porcine tooth germ
    • Uchida T, Tanabe T, Fukae M and Shimizu M (1991) Immunocytochemical, immunochemical detection of a 32-kDa non amelogenin and related proteins in porcine tooth germ. Arch Histol Cytol 54:527-538.
    • (1991) Arch Histol Cytol , vol.54 , pp. 527-538
    • Uchida, T.1    Tanabe, T.2    Fukae, M.3    Shimizu, M.4
  • 40
    • 0030573706 scopus 로고    scopus 로고
    • Amelogenesis imperfecta with enamel opacities and taurodontism: An alternative diagnosis for idiopathic dental fluorosis'
    • Winter GB (1996) Amelogenesis imperfecta with enamel opacities and taurodontism: An alternative diagnosis for idiopathic dental fluorosis'. Br Dent J 181:167-172.
    • (1996) Br Dent J , vol.181 , pp. 167-172
    • Winter, G.B.1
  • 41
    • 0024117250 scopus 로고
    • Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification
    • Witkop CJ (1989) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification. J Oral Pathol 17:547-553.
    • (1989) J Oral Pathol , vol.17 , pp. 547-553
    • Witkop, C.J.1
  • 42
    • 0002460802 scopus 로고
    • Heritable defects of enamel
    • In: Stewart RE and Prescott GH (eds) Mosby, St. Louis
    • Witkop Jr CJ and Sauk Jr JJ (1971) Heritable defects of enamel. In: Stewart RE and Prescott GH (eds) Oral Facial Genetics. Mosby, St. Louis, pp 151-226.
    • (1971) Oral Facial Genetics , pp. 151-226
    • Witkop Jr., C.J.1    Sauk Jr., J.J.2
  • 43
    • 0026353528 scopus 로고
    • Characterization of the enamel ultrastructure and mineral content in hypoplastic amelogenesis imperfecta
    • Wright JT, Robinson C and Shore R (1991) Characterization of the enamel ultrastructure and mineral content in hypoplastic amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol 72:594-601.
    • (1991) Oral Surg Oral Med Oral Pathol , vol.72 , pp. 594-601
    • Wright, J.T.1    Robinson, C.2    Shore, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.