메뉴 건너뛰기




Volumn 137, Issue 6, 2006, Pages 743-752

Gene discovery for dental anomalies: A primer for the dental professional

Author keywords

Hypodontia; Linkage mapping; Mutation; PAX9

Indexed keywords


EID: 33745753889     PISSN: 00028177     EISSN: None     Source Type: Journal    
DOI: 10.14219/jada.archive.2006.0286     Document Type: Article
Times cited : (8)

References (56)
  • 2
    • 13944273804 scopus 로고    scopus 로고
    • The etiology of Wolf-Hirschhorn syndrome
    • Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet 2005;21(3):188-95.
    • (2005) Trends Genet , vol.21 , Issue.3 , pp. 188-195
    • Bergemann, A.D.1    Cole, F.2    Hirschhorn, K.3
  • 4
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981;99:565-9.
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 6
    • 0025713265 scopus 로고
    • Single maxillary central incisor in association with mid-line anomalies
    • Fleming P, Nelson J, Gorlin RJ. Single maxillary central incisor in association with mid-line anomalies. Br Dent J 1990;168:476-9.
    • (1990) Br Dent J , vol.168 , pp. 476-479
    • Fleming, P.1    Nelson, J.2    Gorlin, R.J.3
  • 8
    • 0015043960 scopus 로고
    • Agenesis and tooth size in the permanent dentition
    • Baum BJ, Cohen MM. Agenesis and tooth size in the permanent dentition. Angle Orthod 1971;41(2):100-2.
    • (1971) Angle Orthod , vol.41 , Issue.2 , pp. 100-102
    • Baum, B.J.1    Cohen, M.M.2
  • 9
    • 0024227103 scopus 로고
    • Dominant inheritance of tooth malpositions and their association to hypodontia
    • Svinhufvud E, Myllarniemi S, Norio R. Dominant inheritance of tooth malpositions and their association to hypodontia. Clin Genet 1988;34:373-81.
    • (1988) Clin Genet , vol.34 , pp. 373-381
    • Svinhufvud, E.1    Myllarniemi, S.2    Norio, R.3
  • 10
    • 0000238590 scopus 로고
    • Taurodontism associated with other dental abnormalities
    • Stoy PJ. Taurodontism associated with other dental abnormalities. Dent Pract Dent Rec 1960;10:202-5.
    • (1960) Dent Pract Dent Rec , vol.10 , pp. 202-205
    • Stoy, P.J.1
  • 11
    • 0024835459 scopus 로고
    • A controlled study of the association of various dental anomalies with hypodontia of permanent teeth
    • Lai PY, Seow WK. A controlled study of the association of various dental anomalies with hypodontia of permanent teeth. Pediatr Dent 1989;11:291-6.
    • (1989) Pediatr Dent , vol.11 , pp. 291-296
    • Lai, P.Y.1    Seow, W.K.2
  • 12
    • 0032185298 scopus 로고    scopus 로고
    • Tooth rotation associated with aplasia of nonadjacent teeth
    • Baccetti T. Tooth rotation associated with aplasia of nonadjacent teeth. Angle Orthod 1998;68:471-4.
    • (1998) Angle Orthod , vol.68 , pp. 471-474
    • Baccetti, T.1
  • 13
    • 0035377439 scopus 로고    scopus 로고
    • Where will the genome lead us? Dentistry in the 21st century
    • Yeager AL. Where will the genome lead us? Dentistry in the 21st century. JADA 2001;132:801-7.
    • (2001) JADA , vol.132 , pp. 801-807
    • Yeager, A.L.1
  • 14
    • 0038826688 scopus 로고    scopus 로고
    • Microarrays and clinical dentistry
    • Kuo WP, Whipple ME, Jenssen TK, et al. Microarrays and clinical dentistry. JADA 2003;134:456-62.
    • (2003) JADA , vol.134 , pp. 456-462
    • Kuo, W.P.1    Whipple, M.E.2    Jenssen, T.K.3
  • 15
    • 0033192764 scopus 로고    scopus 로고
    • Announcing the biotechnology century
    • Slavkin HC. Announcing the biotechnology century. JADA 1999;130:1374-8.
    • (1999) JADA , vol.130 , pp. 1374-1378
    • Slavkin, H.C.1
  • 16
    • 0025740360 scopus 로고
    • A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
    • Lagerstrom M, Dahl N, Nakahori Y, et al. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991;10:971-5.
    • (1991) Genomics , vol.10 , pp. 971-975
    • Lagerstrom, M.1    Dahl, N.2    Nakahori, Y.3
  • 18
    • 0032709548 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
    • Toomes C, James J, Wood AJ, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999;23:421-4.
    • (1999) Nat Genet , vol.23 , pp. 421-424
    • Toomes, C.1    James, J.2    Wood, A.J.3
  • 20
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 2000;24:342-3.
    • (2000) Nat Genet , vol.24 , pp. 342-343
    • Van Den Boogaard, M.J.1    Dorland, M.2    Beemer, F.A.3    Van Amstel, H.K.4
  • 21
    • 0035134329 scopus 로고    scopus 로고
    • DSPP mutation in dentinogenesis imperfecta Shields type II
    • Zhang X, Zhao J, Li C, et al. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001;27:151-2.
    • (2001) Nat Genet , vol.27 , pp. 151-152
    • Zhang, X.1    Zhao, J.2    Li, C.3
  • 22
    • 0035136682 scopus 로고    scopus 로고
    • Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP (published correction appears in Nat Genet 2001;27:345)
    • Xiao S, Yu C, Chou X, et al. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP (published correction appears in Nat Genet 2001;27:345). Nat Genet 2001;27:201-4.
    • (2001) Nat Genet , vol.27 , pp. 201-204
    • Xiao, S.1    Yu, C.2    Chou, X.3
  • 23
    • 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, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 2001;10:1673-7.
    • (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
  • 24
    • 9144248989 scopus 로고    scopus 로고
    • Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects
    • Hart TC, Hart PS, Gorry MC, et al. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003;40:900-6.
    • (2003) J Med Genet , vol.40 , pp. 900-906
    • Hart, T.C.1    Hart, P.S.2    Gorry, M.C.3
  • 25
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431:931-45.
    • (2004) Nature , vol.431 , pp. 931-945
  • 26
    • 0020174415 scopus 로고
    • Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA
    • Robson KJ, Chandra T, MacGillivray RT, Woo SL. Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc Natl Acad Sci U S A 1982;79:4701-5.
    • (1982) Proc Natl Acad Sci U S A , vol.79 , pp. 4701-4705
    • Robson, K.J.1    Chandra, T.2    MacGillivray, R.T.3    Woo, S.L.4
  • 27
    • 0021839541 scopus 로고
    • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
    • Francke U, Ochs HD, de Martinville B, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985;37:250-67.
    • (1985) Am J Hum Genet , vol.37 , pp. 250-267
    • Francke, U.1    Ochs, H.D.2    De Martinville, B.3
  • 28
    • 0022972531 scopus 로고
    • A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome
    • van Ommen GJ, Verkerk JM, Hofker MH, et al. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell 1986;47:499-504.
    • (1986) Cell , vol.47 , pp. 499-504
    • Van Ommen, G.J.1    Verkerk, J.M.2    Hofker, M.H.3
  • 29
    • 0021863554 scopus 로고
    • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
    • Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:842-5.
    • (1985) Nature , vol.316 , pp. 842-845
    • Monaco, A.P.1    Bertelson, C.J.2    Middlesworth, W.3
  • 30
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 31
    • 0036556243 scopus 로고    scopus 로고
    • Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
    • Das P, Stockton DW, Bauer C, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002;110:371-6.
    • (2002) Hum Genet , vol.110 , pp. 371-376
    • Das, P.1    Stockton, D.W.2    Bauer, C.3
  • 32
    • 17844373857 scopus 로고    scopus 로고
    • Genetics of type 2 diabetes
    • Barroso I. Genetics of type 2 diabetes. Diabet Med 2005;22:517-35.
    • (2005) Diabet Med , vol.22 , pp. 517-535
    • Barroso, I.1
  • 33
    • 12144275864 scopus 로고    scopus 로고
    • Type 1 diabetes mellitus of man: Genetic susceptibility and resistance
    • Pugliese A, Eisenbarth GS. Type 1 diabetes mellitus of man: genetic susceptibility and resistance. Adv Exp Med Biol 2004;552:170-203.
    • (2004) Adv Exp Med Biol , vol.552 , pp. 170-203
    • Pugliese, A.1    Eisenbarth, G.S.2
  • 34
    • 0043026853 scopus 로고    scopus 로고
    • Genetic evaluation for coronary artery disease
    • Scheuner MT. Genetic evaluation for coronary artery disease. Genet Med 2003;5(4):269-85.
    • (2003) Genet Med , vol.5 , Issue.4 , pp. 269-285
    • Scheuner, M.T.1
  • 35
    • 18144422363 scopus 로고    scopus 로고
    • The challenges and surprises of studying the genetics of age-related macular degeneration
    • Traboulsi EI. The challenges and surprises of studying the genetics of age-related macular degeneration. Am J Ophthalmol 2005;139:908-11.
    • (2005) Am J Ophthalmol , vol.139 , pp. 908-911
    • Traboulsi, E.I.1
  • 36
    • 1642383053 scopus 로고    scopus 로고
    • The complex genetics of cleft lip and palate
    • Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004;26(1):7-16.
    • (2004) Eur J Orthod , vol.26 , Issue.1 , pp. 7-16
    • Cobourne, M.T.1
  • 37
    • 19944427292 scopus 로고    scopus 로고
    • Genetic basis for individual variations in pain perception and the development of a chronic pain condition
    • Diatchenko L, Slade GD, Nackley AG, et al. Genetic basis for individual variations in pain perception and the development of a chronic pain condition. Hum Mol Genet 2005;14(1):135-43.
    • (2005) Hum Mol Genet , vol.14 , Issue.1 , pp. 135-143
    • Diatchenko, L.1    Slade, G.D.2    Nackley, A.G.3
  • 38
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
    • Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003;33(supplement):228-37.
    • (2003) Nat Genet , vol.33 , Issue.SUPPL. , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 39
    • 0027485181 scopus 로고
    • Linkage analysis versus association analysis: Distinguishing between two models that explain disease-marker associations
    • Hodge SE. Linkage analysis versus association analysis: distinguishing between two models that explain disease-marker associations. Am J Hum Genet 1993;53:367-84.
    • (1993) Am J Hum Genet , vol.53 , pp. 367-384
    • Hodge, S.E.1
  • 40
    • 0025008677 scopus 로고
    • Linkage strategies for genetically complex traits, part II: The power of affected relative pairs
    • Risch N. Linkage strategies for genetically complex traits, part II: the power of affected relative pairs. Am J Hum Genet 1990;46:229-41.
    • (1990) Am J Hum Genet , vol.46 , pp. 229-241
    • Risch, N.1
  • 41
    • 0029001682 scopus 로고
    • Extreme discordant sib pairs for mapping quantitative trait loci in humans
    • Risch N, Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995;268:1584-9.
    • (1995) Science , vol.268 , pp. 1584-1589
    • Risch, N.1    Zhang, H.2
  • 42
    • 0031912715 scopus 로고    scopus 로고
    • A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test
    • Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-8.
    • (1998) Am J Hum Genet , vol.62 , pp. 450-458
    • Spielman, R.S.1    Ewens, W.J.2
  • 43
    • 0025732253 scopus 로고
    • Testing for association between disease and linked marker loci: A log-linear-model analysis
    • Tiret L, Amouyel P, Rakotovao R, Cambien F, Ducimetiere P. Testing for association between disease and linked marker loci: a log-linear-model analysis. Am J Hum Genet 1991;48:926-34.
    • (1991) Am J Hum Genet , vol.48 , pp. 926-934
    • Tiret, L.1    Amouyel, P.2    Rakotovao, R.3    Cambien, F.4    Ducimetiere, P.5
  • 44
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome (published corrections appear in Nature 2001;412:565; Nature 2001;411:720)
    • Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome (published corrections appear in Nature 2001;412:565; Nature 2001;411:720). Nature 2001;409:860-921).
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 45
    • 0032509302 scopus 로고    scopus 로고
    • Genome sequence of the nematode C. elegans: A platform for investigating biology (published corrections appear in Science 1999;283:35; Science 1999;283:2103; Science 1999;285:1493)
    • C. elegans Sequencing Consortium. Genome sequence of the nematode C. elegans: a platform for investigating biology (published corrections appear in Science 1999;283:35; Science 1999;283:2103; Science 1999;285:1493). Science 1998;282:2012-8.
    • (1998) Science , vol.282 , pp. 2012-2018
  • 46
    • 0034708480 scopus 로고    scopus 로고
    • The genome sequence of Drosophila melanogaster
    • Adams MD, Celniker SE, Holt RA, et al. The genome sequence of Drosophila melanogaster. Science 2000;287:2185-95.
    • (2000) Science , vol.287 , pp. 2185-2195
    • Adams, M.D.1    Celniker, S.E.2    Holt, R.A.3
  • 47
    • 10644283823 scopus 로고    scopus 로고
    • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (published correction appears in Nature 2005;433:777)
    • Hillier LW, Miller W, Birney E, et al. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (published correction appears in Nature 2005;433:777). Nature 2004;432:695-716.
    • (2004) Nature , vol.432 , pp. 695-716
    • Hillier, L.W.1    Miller, W.2    Birney, E.3
  • 48
    • 1542563409 scopus 로고    scopus 로고
    • Initial sequencing and comparative analysis of the mouse genome
    • Waterston RH, Lindblad-Toh K, Birney E, et al. Initial sequencing and comparative analysis of the mouse genome. Nature 2002;420:520-62.
    • (2002) Nature , vol.420 , pp. 520-562
    • Waterston, R.H.1    Lindblad-Toh, K.2    Birney, E.3
  • 51
    • 0034445306 scopus 로고    scopus 로고
    • Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia
    • Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN. Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. J Dent Res 2000;79:1469-75.
    • (2000) J Dent Res , vol.79 , pp. 1469-1475
    • Goldenberg, M.1    Das, P.2    Messersmith, M.3    Stockton, D.W.4    Patel, P.I.5    D'Souza, R.N.6
  • 52
    • 0032169255 scopus 로고    scopus 로고
    • PAX9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities
    • Peters H, Neubuser A, Kratochwil K, Balling R. PAX9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 1998;12:2735-47.
    • (1998) Genes Dev , vol.12 , pp. 2735-2747
    • Peters, H.1    Neubuser, A.2    Kratochwil, K.3    Balling, R.4
  • 53
    • 0038028264 scopus 로고    scopus 로고
    • Antagonistic interactions between FGF and BMP signaling pathways: A mechanism for positioning the sites of tooth formation
    • Neubuser A, Peters H, Balling R, Martin GR. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell 1997;90:247-55.
    • (1997) Cell , vol.90 , pp. 247-255
    • Neubuser, A.1    Peters, H.2    Balling, R.3    Martin, G.R.4
  • 54
    • 0034748051 scopus 로고    scopus 로고
    • Identification of a nonsense mutation in the PAX9 gene in molar oligodontia
    • Nieminen P, Arte S, Tanner D, et al. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 2001;9:743-6.
    • (2001) Eur J Hum Genet , vol.9 , pp. 743-746
    • Nieminen, P.1    Arte, S.2    Tanner, D.3
  • 55
    • 0042822121 scopus 로고    scopus 로고
    • Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia
    • Das P, Hai M, Elcock C, et al. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet 2003;118:35-42.
    • (2003) Am J Med Genet , vol.118 , pp. 35-42
    • Das, P.1    Hai, M.2    Elcock, C.3
  • 56
    • 1242294402 scopus 로고    scopus 로고
    • Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans
    • Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem 2004;279:5924-33.
    • (2004) J Biol Chem , vol.279 , pp. 5924-5933
    • Mensah, J.K.1    Ogawa, T.2    Kapadia, H.3    Cavender, A.C.4    D'Souza, R.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.