메뉴 건너뛰기




Volumn 191, Issue 3, 2010, Pages 235-239

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation

Author keywords

Amelogenesis imperfecta; Deciduous teeth; Enamel; FAM83H; Scanning electron microscopy

Indexed keywords

AMELOGENESIS IMPERFECTA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DECIDUOUS TOOTH; DNA SEQUENCE; GENE MUTATION; HUMAN; INFORMED CONSENT; MICRORADIOGRAPHY; NONSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCANNING ELECTRON MICROSCOPE; SCHOOL CHILD; X RAY ANALYSIS; CASE REPORT; CHEMISTRY; ENAMEL; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; PEDIGREE; POINT MUTATION; SCANNING ELECTRON MICROSCOPY; SPECTROMETRY; STOP CODON; ULTRASTRUCTURE;

EID: 77952310893     PISSN: 14226405     EISSN: None     Source Type: Journal    
DOI: 10.1159/000252801     Document Type: Article
Times cited : (34)

References (18)
  • 1
    • 0037281187 scopus 로고    scopus 로고
    • Amelogenesis imperfecta: A classification and catalogue for the 21st century
    • Aldred, M.J., R. Savarirayan, P.J. Crawford (2003) Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Dis 9: 19-23.
    • (2003) Oral Dis , vol.9 , pp. 19-23
    • Aldred, M.J.1    Savarirayan, R.2    Crawford, P.J.3
  • 3
    • 0026460125 scopus 로고
    • Human amelogenesis. I: High resolution electron microscopy study of ribbonlike crystals
    • Cuisinier, F.J., P. Steuer, B. Senger, J.C. Voegel, R.M. Frank (1992) Human amelogenesis. I: High resolution electron microscopy study of ribbonlike crystals. Calcif Tissue Int 51: 259-268.
    • (1992) Calcif Tissue Int , vol.51 , pp. 259-268
    • Cuisinier, F.J.1    Steuer, P.2    Senger, B.3    Voegel, J.C.4    Frank, R.M.5
  • 5
    • 3142773337 scopus 로고    scopus 로고
    • Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
    • Hart, P.S., T.C. Hart, M.D. Michalec, O.H. Ryu, D. Simmons, S. Hong, J.T. Wright (2004) Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 41: 545-549.
    • (2004) J Med Genet , vol.41 , pp. 545-549
    • Hart, P.S.1    Hart, T.C.2    Michalec, M.D.3    Ryu, O.H.4    Simmons, D.5    Hong, S.6    Wright, J.T.7
  • 9
    • 65249169172 scopus 로고    scopus 로고
    • Mutational spectrum of FAM83H: The C-terminal portion is required for tooth enamel calcification
    • Lee, S.K., J.C. Hu, J.D. Bartlett, K.E. Lee, B.P. Lin, J.P. Simmer, J.W. Kim (2008) Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Hum Mutat 29: E95-E99.
    • (2008) Hum Mutat , vol.29
    • Lee, S.K.1    Hu, J.C.2    Bartlett, J.D.3    Lee, K.E.4    Lin, B.P.5    Simmer, J.P.6    Kim, J.W.7
  • 11
    • 0002394212 scopus 로고
    • Development and calcification of enamel
    • Boca Raton, CRC Press
    • Nanci, A., C.E. Smith (1992) Development and calcification of enamel; in: Mineralization in Biological Systems. Boca Raton, CRC Press, pp 313-343.
    • (1992) Mineralization in Biological Systems , pp. 313-343
    • Nanci, A.1    Smith, C.E.2
  • 14
    • 0035996556 scopus 로고    scopus 로고
    • Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta
    • Shore, R.C., B. Backman, S.J. Brookes, J. Kirkham, S.R. Wood, C. Robinson (2002) Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. Connect Tissue Res 43: 466-471.
    • (2002) Connect Tissue Res , vol.43 , pp. 466-471
    • Shore, R.C.1    Backman, B.2    Brookes, S.J.3    Kirkham, J.4    Wood, S.R.5    Robinson, C.6
  • 15
    • 0029144543 scopus 로고
    • Enamel matrix protein turnover during amelogenesis: Basic biochemical properties of short-lived sulfated enamel proteins
    • Smith, C.E., W.Y. Chen, M. Issid, A. Fazel (1995) Enamel matrix protein turnover during amelogenesis: basic biochemical properties of short-lived sulfated enamel proteins. Calc Tissue Int 57: 133-144.
    • (1995) Calc Tissue Int , vol.57 , pp. 133-144
    • Smith, C.E.1    Chen, W.Y.2    Issid, M.3    Fazel, A.4
  • 16
    • 0016157794 scopus 로고
    • Morphological classification of rat incisor ameloblasts
    • Warshawsky, H., C.E. Smith (1974) Morphological classification of rat incisor ameloblasts. Anat Rec 179: 423-446.
    • (1974) Anat Rec , vol.179 , pp. 423-446
    • Warshawsky, H.1    Smith, C.E.2
  • 17
    • 0024117250 scopus 로고
    • Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification
    • Witkop, C.J. Jr (1988) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 17: 547-553.
    • (1988) J Oral Pathol , vol.17 , pp. 547-553
    • Witkop Jr., C.J.1
  • 18
    • 0026488366 scopus 로고
    • Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta
    • Wright, J.T., V. Lord, C. Robinson, R. Shore (1992) Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta. J Oral Pathol Med 21: 390-394.
    • (1992) J Oral Pathol Med , vol.21 , pp. 390-394
    • Wright, J.T.1    Lord, V.2    Robinson, C.3    Shore, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.