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Volumn 18, Issue 6, 2008, Pages 441-445

Deletion of PAX9 and oligodontia: A third family and review of the literature

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; PAX9 PROTEIN, HUMAN; TRANSCRIPTION FACTOR PAX9; TTF1 PROTEIN, HUMAN;

EID: 53849149005     PISSN: 09607439     EISSN: 1365263X     Source Type: Journal    
DOI: 10.1111/j.1365-263X.2008.00915.x     Document Type: Article
Times cited : (23)

References (19)
  • 1
    • 33645801980 scopus 로고    scopus 로고
    • Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development
    • Pereira TV, Salzano FM, Mostowska A, et al. Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. Proc Natl Acad Sci USA 2006 103 : 5676 5681.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 5676-5681
    • Pereira, T.V.1    Salzano, F.M.2    Mostowska, A.3
  • 2
    • 0008893623 scopus 로고    scopus 로고
    • Benign hereditary chorea: A rare cause of disability
    • Guala A, Nocita G, Di Maria E, et al. Benign hereditary chorea: a rare cause of disability. Ital J Pediatr 2001 27 : 150 152.
    • (2001) Ital J Pediatr , vol.27 , pp. 150-152
    • Guala, A.1    Nocita, G.2    Di Maria, E.3
  • 3
    • 18344393450 scopus 로고    scopus 로고
    • Mutations in TITF-1 are associated with benign hereditary chorea
    • Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002 11 : 971 979.
    • (2002) Hum Mol Genet , vol.11 , pp. 971-979
    • Breedveld, G.J.1    Van Dongen, J.W.2    Danesino, C.3
  • 5
    • 34250191011 scopus 로고    scopus 로고
    • The role of MSX1 in tooth agenesis in Iranians
    • Seifi M, Kazemi B, Golkar P. The role of MSX1 in tooth agenesis in Iranians. Int J Paediatr Dent 2007 17 : 254 258.
    • (2007) Int J Paediatr Dent , vol.17 , pp. 254-258
    • Seifi, M.1    Kazemi, B.2    Golkar, P.3
  • 7
    • 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 : 743 746.
    • (2001) Eur J Hum Genet , vol.9 , pp. 743-746
    • Nieminen, P.1    Arte, S.2    Tanner, D.3
  • 8
    • 0036479444 scopus 로고    scopus 로고
    • A novel mutation in human PAX9 causes molar oligodontia
    • Frazier-Bowers SA, Guo DC, Cavender A, et al. A novel mutation in human PAX9 causes molar oligodontia. J Dent Res 2002 81 : 129 133.
    • (2002) J Dent Res , vol.81 , pp. 129-133
    • Frazier-Bowers, S.A.1    Guo, D.C.2    Cavender, A.3
  • 9
    • 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 : 371 376.
    • (2002) Hum Genet , vol.110 , pp. 371-376
    • Das, P.1    Stockton, D.W.2    Bauer, C.3
  • 10
    • 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 A 2003 118 : 35 42.
    • (2003) Am J Med Genet a , vol.118 , pp. 35-42
    • Das, P.1    Hai, M.2    Elcock, C.3
  • 12
    • 1142299588 scopus 로고    scopus 로고
    • A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia
    • Jumlongras D, Lin JY, Chapra A, et al. A novel missense 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
  • 13
  • 14
    • 31344467463 scopus 로고    scopus 로고
    • A novel mutation in PAX9 causes familial form of molar oligodontia
    • Mostowska A, Biedziak B, Trzeciak WH. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur J Hum Genet 2006 14 : 173 179.
    • (2006) Eur J Hum Genet , vol.14 , pp. 173-179
    • Mostowska, A.1    Biedziak, B.2    Trzeciak, W.H.3
  • 15
    • 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
  • 16
    • 33846431982 scopus 로고    scopus 로고
    • New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes
    • Devos D, Vuillaume I, De Becdelievre A, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord 2006 21 : 2237 2240.
    • (2006) Mov Disord , vol.21 , pp. 2237-2240
    • Devos, D.1    Vuillaume, I.2    De Becdelievre, A.3
  • 17
    • 34547886846 scopus 로고    scopus 로고
    • A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
    • Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. Eur J Oral Sci 2007 115 : 330 333.
    • (2007) Eur J Oral Sci , vol.115 , pp. 330-333
    • Hansen, L.1    Kreiborg, S.2    Jarlov, H.3    Niebuhr, E.4    Eiberg, H.5
  • 18
    • 0043014474 scopus 로고    scopus 로고
    • Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia
    • Mostowska A, Kobielak A, Biedziak B, Trzeciak WH. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 2003 111 : 272 276.
    • (2003) Eur J Oral Sci , vol.111 , pp. 272-276
    • Mostowska, A.1    Kobielak, A.2    Biedziak, B.3    Trzeciak, W.H.4
  • 19
    • 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 17 : 2735 2747.
    • (1998) Genes Dev , vol.17 , pp. 2735-2747
    • Peters, H.1    Neubuser, A.2    Kratochwil, K.3    Balling, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.