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Volumn 115, Issue 6, 2007, Pages 427-432

Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies

Author keywords

Craniofacial development; Hypodontia; Nonsense mutation; PAX9 gene

Indexed keywords

PAX9 PROTEIN, HUMAN; TRANSCRIPTION FACTOR PAX9; UNCLASSIFIED DRUG;

EID: 36249003292     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2007.00492.x     Document Type: Article
Times cited : (43)

References (33)
  • 2
    • 0019457641 scopus 로고
    • Supernumerary and congenitally missing primary teeth in Finnish children. An epidemiologic study
    • Järvinen S, Lehtinen L. Supernumerary and congenitally missing primary teeth in Finnish children. An epidemiologic study. Acta Odontol Scand 1981 39 : 83 86.
    • (1981) Acta Odontol Scand , vol.39 , pp. 83-86
    • Järvinen, S.1    Lehtinen, L.2
  • 4
    • 0031110448 scopus 로고    scopus 로고
    • Long-term dental development in children after treatment for malignant disease
    • Näsman M, Forsberg C-M, Dahllöf G. Long-term dental development in children after treatment for malignant disease. Eur J Orthod 1997 19 : 151 159.
    • (1997) Eur J Orthod , vol.19 , pp. 151-159
    • Näsman, M.1    Forsberg, C.-M.2    Dahllöf, G.3
  • 5
    • 0027636307 scopus 로고
    • Taurodontism and length of teeth in patients with oligodontia
    • Schalk-van der Weide Y, Steen WH, Bosman F. Taurodontism and length of teeth in patients with oligodontia. J Oral Rehabil 1993 20 : 401 412.
    • (1993) J Oral Rehabil , vol.20 , pp. 401-412
    • Schalk-Van Der Weide, Y.1    Steen, W.H.2    Bosman, F.3
  • 7
    • 0040920369 scopus 로고    scopus 로고
    • Maintained by: Baltimore, MD: McKusick-Nayhans Institute for Genetic Medicine, Johns Hopkins University. and. Bethesda, MD: National Centre for Biotechnology Information, National Library of Medicine
    • Online Mendelian inheritance in man, OMIM (2007 Maintained by : Baltimore, MD : McKusick-Nayhans Institute for Genetic Medicine, Johns Hopkins University and Bethesda, MD : National Centre for Biotechnology Information, National Library of Medicine, http://www.ncbi.nlm.nih.gov.
    • (2007) Online Mendelian Inheritance in Man, OMIM
  • 8
    • 0026828661 scopus 로고
    • Distribution of missing teeth and tooth morphology in patients with oligodontia
    • Schalk-van der Weide Y, Steen WH, Bosman F. Distribution of missing teeth and tooth morphology in patients with oligodontia. ASDC J Dent Child 1992 59 : 133 140.
    • (1992) ASDC J Dent Child , vol.59 , pp. 133-140
    • Schalk-Van Der Weide, Y.1    Steen, W.H.2    Bosman, F.3
  • 9
    • 36248999287 scopus 로고    scopus 로고
    • Maintained by: Tooth and Craniofacial Development, Group of the Developmental Biology Programme, Institute of Biotechnology, University of Helsinki
    • Gene expression in tooth (2007 Maintained by : Tooth and Craniofacial Development, Group of the Developmental Biology Programme, Institute of Biotechnology, University of Helsinki, http://bite-it.helsinki.fi/.
    • (2007) Gene Expression in Tooth
  • 12
    • 2342613578 scopus 로고    scopus 로고
    • Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer
    • Lammi S, Arte S, Somer M, Järvinen H, Lahermo P, Thesleff I. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 2004 74 : 1043 1050.
    • (2004) Am J Hum Genet , vol.74 , pp. 1043-1050
    • Lammi, S.1    Arte, S.2    Somer, M.3    Järvinen, H.4    Lahermo, P.5    Thesleff, I.6
  • 14
    • 33744802205 scopus 로고    scopus 로고
    • Novel MSX1 Frameshift causes autosomal-dominant oligodontia
    • Kim JW, Simmer JP, Lin BP, Hu JC. Novel MSX1 Frameshift causes autosomal-dominant oligodontia. J Dent Res 2006 85 : 267 271.
    • (2006) J Dent Res , vol.85 , pp. 267-271
    • Kim, J.W.1    Simmer, J.P.2    Lin, B.P.3    Hu, J.C.4
  • 15
    • 0043014474 scopus 로고    scopus 로고
    • A novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia
    • Mostowska A, Kobielak A, Biedziak B, Trzeciak WH. A novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 2003 111 : 371 376.
    • (2003) Eur J Oral Sci , vol.111 , pp. 371-376
    • Mostowska, A.1    Kobielak, A.2    Biedziak, B.3    Trzeciak, W.H.4
  • 16
    • 0027467238 scopus 로고
    • Epithelial-mesenchyme interactions are required for Msx1 and Msx2 gene expression in the developing murine molar tooth
    • Jowett AK, Vainio S, Ferguson HN, Sharpe PT, Thesleff I. Epithelial-mesenchyme interactions are required for Msx1 and Msx2 gene expression in the developing murine molar tooth. Development 1993 117 : 461 470.
    • (1993) Development , vol.117 , pp. 461-470
    • Jowett, A.K.1    Vainio, S.2    Ferguson, H.N.3    Sharpe, P.T.4    Thesleff, I.5
  • 17
    • 0031602502 scopus 로고    scopus 로고
    • PAX genes and organogenesis: PAX9 meets tooth development
    • Peters H, Neubüser A, Balling R. PAX genes and organogenesis: PAX9 meets tooth development. Eur J Oral Sci 1998 106 : 38 43.
    • (1998) Eur J Oral Sci , vol.106 , pp. 38-43
    • Peters, H.1    Neubüser, A.2    Balling, R.3
  • 20
    • 0242609823 scopus 로고    scopus 로고
    • A novel missence mutation in PAX9 in a family with distinct phenotype of oligodontia
    • Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P. A novel missence mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet 2003 11 : 866 871.
    • (2003) Eur J Hum Genet , vol.11 , pp. 866-871
    • Lammi, L.1    Halonen, K.2    Pirinen, S.3    Thesleff, I.4    Arte, S.5    Nieminen, P.6
  • 21
    • 0042822121 scopus 로고    scopus 로고
    • Novel missence mutations and a 288-bp exonic insertion in PAX9 families with autosomal dominant hypodontia
    • Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH. Novel missence mutations and a 288-bp exonic insertion in PAX9 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    Leal, S.M.4    Brown, D.T.5    Brook, A.H.6
  • 22
    • 1142299588 scopus 로고    scopus 로고
    • A novel missence mutation in the paired domain of PAX9 causes non - Syndromic oligodontia
    • Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL. A novel missence mutation in the paired domain of PAX9 causes non - syndromic oligodontia. Hum Genet 2004 114 : 242 249.
    • (2004) Hum Genet , vol.114 , pp. 242-249
    • Jumlongras, D.1    Lin, J.Y.2    Chapra, A.3    Seidman, C.E.4    Seidman, J.G.5    Maas, R.L.6
  • 23
    • 33646165037 scopus 로고    scopus 로고
    • Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis
    • Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. Eur J Hum Genet 2006 14 : 403 409.
    • (2006) Eur J Hum Genet , vol.14 , pp. 403-409
    • Kapadia, H.1    Frazier-Bowers, S.2    Ogawa, T.3    D'Souza, R.N.4
  • 24
    • 33750682287 scopus 로고    scopus 로고
    • Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype
    • Gerits A, Nieminen P, De Muynck S, Carels S. Exclusion of coding region mutations in MSX1, PAX9 and AXIN2 in eight patients with severe oligodontia phenotype. Orthod Craniofac Res 2006 9 : 129 136.
    • (2006) Orthod Craniofac Res , vol.9 , pp. 129-136
    • Gerits, A.1    Nieminen, P.2    De Muynck, S.3    Carels, S.4
  • 25
    • 0031239122 scopus 로고    scopus 로고
    • PAX genes and organogenesis
    • Dahl E, Koseki H, Balling R. PAX genes and organogenesis. Bioessays 1997 19 : 755 765.
    • (1997) Bioessays , vol.19 , pp. 755-765
    • Dahl, E.1    Koseki, H.2    Balling, R.3
  • 26
    • 0032169255 scopus 로고    scopus 로고
    • PAX9 deficient mice lack pharyngeal pouch derivates and teeth and exhibit craniofacial and limb abnormalities
    • Peters H, Neubüser A, Kratochwil K, Balling R. PAX9 deficient mice lack pharyngeal pouch derivates and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 1998 12 : 2735 2747.
    • (1998) Genes Dev , vol.12 , pp. 2735-2747
    • Peters, H.1    Neubüser, A.2    Kratochwil, K.3    Balling, R.4
  • 27
    • 28744434916 scopus 로고    scopus 로고
    • Reduction of PAX9 gene dosage in allelic series of mouse mutants causes hypodontia and oligodontia
    • Kist R, Watson M, Xiaomeng W, Cairns P, Miloes C, Reid DJ, Peters H. Reduction of PAX9 gene dosage in allelic series of mouse mutants causes hypodontia and oligodontia. Hum Mol Genet 2005 14 : 3605 3617.
    • (2005) Hum Mol Genet , vol.14 , pp. 3605-3617
    • Kist, R.1    Watson, M.2    Xiaomeng, W.3    Cairns, P.4    Miloes, C.5    Reid, D.J.6    Peters, H.7
  • 28
    • 0030098105 scopus 로고    scopus 로고
    • Survey of anomalies in primary teeth and their correlation with the permanent dentition
    • Whittington BR, Durward CS. Survey of anomalies in primary teeth and their correlation with the permanent dentition. N Z Dent J 1996 92 : 4 8.
    • (1996) N Z Dent J , vol.92 , pp. 4-8
    • Whittington, B.R.1    Durward, C.S.2
  • 29
    • 26644444803 scopus 로고    scopus 로고
    • Maxillary canine anomalies and tooth agenesis
    • Camilleri S. Maxillary canine anomalies and tooth agenesis. Eur J Orthod 2005 27 : 450 456.
    • (2005) Eur J Orthod , vol.27 , pp. 450-456
    • Camilleri, S.1
  • 30
    • 0032089017 scopus 로고    scopus 로고
    • A controlled study of associated dental anomalies
    • Baccetti T. A controlled study of associated dental anomalies. Angle Orthod 1998 68 : 267 274.
    • (1998) Angle Orthod , vol.68 , pp. 267-274
    • Baccetti, T.1
  • 31
    • 84984450390 scopus 로고
    • Short root anomaly
    • Lind V. Short root anomaly. Scand J Dent Res 1972 80 : 85 93.
    • (1972) Scand J Dent Res , vol.80 , pp. 85-93
    • Lind, V.1
  • 33
    • 0141617374 scopus 로고    scopus 로고
    • Developmental biology and building a tooth
    • Thesleff I. Developmental biology and building a tooth. Quintessence. Int 2003 34 : 613 620.
    • (2003) Quintessence. Int , vol.34 , pp. 613-620
    • Thesleff, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.