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Volumn 7, Issue 3, 1997, Pages 223-234

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; PHOSPHOPROTEIN; SERINE;

EID: 0030903167     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.3.223     Document Type: Article
Times cited : (67)

References (40)
  • 3
    • 0025882349 scopus 로고
    • PROSITE: A dictionary of sites and patterns in proteins
    • Bairoch, A. 1991. PROSITE: A dictionary of sites and patterns in proteins. Nucleic Acids Res. 19: 2241-2245.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 2241-2245
    • Bairoch, A.1
  • 4
    • 0028050261 scopus 로고
    • OWL - A non-redundant composite protein sequence database
    • Bleasby, A.J., D. Akrigg, and T.K. Attwood. 1994. OWL - A non-redundant composite protein sequence database. Nucleic Acids Res. 22: 3574-3577.
    • (1994) Nucleic Acids Res. , vol.22 , pp. 3574-3577
    • Bleasby, A.J.1    Akrigg, D.2    Attwood, T.K.3
  • 5
    • 0019363396 scopus 로고
    • Organization and expression of eukaryotic split genes coding for proteins
    • Breathnach, R. and P. Chambon. 1981. Organization and expression of eukaryotic split genes coding for proteins. Annu. Rev. Biochem. 50: 349-383.
    • (1981) Annu. Rev. Biochem. , vol.50 , pp. 349-383
    • Breathnach, R.1    Chambon, P.2
  • 6
    • 0029084987 scopus 로고
    • Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140
    • Cairns, C. and B. McStay. 1995. Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140. J. Cell. Sci. 108: 3339-3347.
    • (1995) J. Cell. Sci. , vol.108 , pp. 3339-3347
    • Cairns, C.1    McStay, B.2
  • 8
    • 0021760092 scopus 로고
    • A comprehensive set of sequence analysis programs for the VAX
    • Deverex, J., P. Haeberli, and O. Smithies. 1984. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12: 387-395.
    • (1984) Nucleic Acids Res. , vol.12 , pp. 387-395
    • Deverex, J.1    Haeberli, P.2    Smithies, O.3
  • 9
    • 0029417105 scopus 로고
    • + channel in rat, mouse and human contain conserved introns
    • + channel in rat, mouse and human contain conserved introns. FEBS Lett. 377: 485-488.
    • (1995) FEBS Lett. , vol.377 , pp. 485-488
    • Dib-Hajj, S.D.1    Waxman, S.G.2
  • 11
    • 0027366186 scopus 로고
    • Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1
    • Dixon, M.J., J. Dixon, T. Houseal, M. Bhatt, D.C. Ward, K. Klinger, and G.M. Landes. 1993. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am. J. Hum. Genet. 52: 907-914.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 907-914
    • Dixon, M.J.1    Dixon, J.2    Houseal, T.3    Bhatt, M.4    Ward, D.C.5    Klinger, K.6    Landes, G.M.7
  • 14
    • 0030016204 scopus 로고    scopus 로고
    • Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging
    • Edwards, S.J., A. Fowlie, M.P. Cust, D.T.Y Liu, I.D. Young, and M.J. Dixon. 1996. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J. Med. Genet. 33: 603-606.
    • (1996) J. Med. Genet. , vol.33 , pp. 603-606
    • Edwards, S.J.1    Fowlie, A.2    Cust, M.P.3    Liu, D.T.Y.4    Young, I.D.5    Dixon, M.J.6
  • 15
    • 0026635807 scopus 로고
    • Structure and expression of the human p58clk-1 protein kinase chromosomal gene
    • Eipers, P.G., J.M. Lahti, and V.J. Kidd. 1992. Structure and expression of the human p58clk-1 protein kinase chromosomal gene. Genomics 13: 613-621.
    • (1992) Genomics , vol.13 , pp. 613-621
    • Eipers, P.G.1    Lahti, J.M.2    Kidd, V.J.3
  • 16
    • 0014071819 scopus 로고
    • Mandibulo-facial dysostosis (Treacher Collins syndrome)
    • Fazen, L.E., J. Elmore, and H.L. Nadler. 1967. Mandibulo-facial dysostosis (Treacher Collins syndrome). Am. J. Dis. Child. 113: 406-410.
    • (1967) Am. J. Dis. Child. , vol.113 , pp. 406-410
    • Fazen, L.E.1    Elmore, J.2    Nadler, H.L.3
  • 17
    • 0029794933 scopus 로고    scopus 로고
    • Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
    • Gladwin, A.J., J. Dixon, S.K. Loftus, S. Edwards, J.J. Wasmuth, R.C.M. Hennekam, and M.J. Dixon. 1996. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet. 5: 1533-1538.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1533-1538
    • Gladwin, A.J.1    Dixon, J.2    Loftus, S.K.3    Edwards, S.4    Wasmuth, J.J.5    Hennekam, R.C.M.6    Dixon, M.J.7
  • 19
    • 0028118434 scopus 로고
    • Protein family classification based on searching a database of blocks
    • Henikoff, S. and J.G. Henikoff. 1994. Protein family classification based on searching a database of blocks. Genomics 19: 97-107.
    • (1994) Genomics , vol.19 , pp. 97-107
    • Henikoff, S.1    Henikoff, J.G.2
  • 22
    • 0016434225 scopus 로고
    • Older paternal age and fresh gene mutation: Data on additional disorders
    • Jones, K.L., D.W. Smith, M.A. Harvey, B.D. Hall, and L. Quan. 1975. Older paternal age and fresh gene mutation: Data on additional disorders. J. Pediatr. 86: 84-88.
    • (1975) J. Pediatr. , vol.86 , pp. 84-88
    • Jones, K.L.1    Smith, D.W.2    Harvey, M.A.3    Hall, B.D.4    Quan, L.5
  • 23
    • 0024559093 scopus 로고
    • Dysmorphogenesis of the mandible, zygoma and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis
    • Kay, E.D. and C.N. Kay. 1989. Dysmorphogenesis of the mandible, zygoma and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. Am. J. Med. Genet. 32: 27-31.
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 27-31
    • Kay, E.D.1    Kay, C.N.2
  • 24
    • 0023665902 scopus 로고
    • An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
    • Kozak, M. 1987a. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15: 8125-8148.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 8125-8148
    • Kozak, M.1
  • 25
    • 0023660877 scopus 로고
    • At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells
    • _. 1987b. At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J. Mol. Biol. 196: 947-950.
    • (1987) J. Mol. Biol. , vol.196 , pp. 947-950
  • 26
    • 0027430085 scopus 로고
    • A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q
    • Loftus, S.K., S.E. Edwards, T. Scherpbier-Heddema, K.H. Buetow, J.J. Wasmuth, and M.J. Dixon. 1993. A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Hum. Mol. Genet. 11: 1785-1792.
    • (1993) Hum. Mol. Genet. , vol.11 , pp. 1785-1792
    • Loftus, S.K.1    Edwards, S.E.2    Scherpbier-Heddema, T.3    Buetow, K.H.4    Wasmuth, J.J.5    Dixon, M.J.6
  • 28
    • 0026773097 scopus 로고
    • Nopp140 shuttles on tracks between nucleolus and cytoplasm
    • Meier, U.T. and G. Blobel. 1992. Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell 70: 127-138.
    • (1992) Cell , vol.70 , pp. 127-138
    • Meier, U.T.1    Blobel, G.2
  • 29
    • 0029089336 scopus 로고
    • Control of epitheliomesenchymal transformation. Events in the onset of neural crest cell migration are separable and inducible by protein kinase inhibitors
    • Newgreen, D.F. and J. Minichiello. 1995. Control of epitheliomesenchymal transformation. Events in the onset of neural crest cell migration are separable and inducible by protein kinase inhibitors. Dev. Biol. 170: 91-101.
    • (1995) Dev. Biol. , vol.170 , pp. 91-101
    • Newgreen, D.F.1    Minichiello, J.2
  • 30
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita, M., H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. 86: 2766-2770.
    • (1989) Proc. Natl. Acad. Sci. , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 31
    • 0029050553 scopus 로고
    • Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis
    • Pai, C.Y., H.K. Chen, H.E. Sheu, and N.H. Yeh. 1995. Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis. J. Cell Sci. 108: 1911-1920.
    • (1995) J. Cell Sci. , vol.108 , pp. 1911-1920
    • Pai, C.Y.1    Chen, H.K.2    Sheu, H.E.3    Yeh, N.H.4
  • 32
    • 0027313286 scopus 로고
    • Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
    • Pereira, E., M. D'Alessio, F. Ramirez, J.R. Lynch, B. Sykes, T. Pangilinan, and J. Bonadio. 1993. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Mol. Genet. 7: 961-968.
    • (1993) Hum. Mol. Genet. , vol.7 , pp. 961-968
    • Pereira, E.1    D'Alessio, M.2    Ramirez, F.3    Lynch, J.R.4    Sykes, B.5    Pangilinan, T.6    Bonadio, J.7
  • 33
    • 0019449854 scopus 로고
    • The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome)
    • Phelps, P.D., D. Poswillo, and G.A.S. Lloyd. 1981. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin. Otolaryngol. 6: 15-28.
    • (1981) Clin. Otolaryngol. , vol.6 , pp. 15-28
    • Phelps, P.D.1    Poswillo, D.2    Lloyd, G.A.S.3
  • 34
    • 0016728179 scopus 로고
    • The pathogenesis of Treacher Collins syndrome (mandibulofacial dysostosis)
    • Poswillo, D. 1975. The pathogenesis of Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg. 13: 1-26.
    • (1975) Br. J. Oral Surg. , vol.13 , pp. 1-26
    • Poswillo, D.1
  • 35
    • 0017681196 scopus 로고
    • DNA sequencing with chain terminating inhibitors
    • Sanger, F., S. Nicklen, and A.R. Coulson. 1977. DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. 74: 5463-5467.
    • (1977) Proc. Natl. Acad. Sci. , vol.74 , pp. 5463-5467
    • Sanger, F.1    Nicklen, S.2    Coulson, A.R.3
  • 36
    • 0342482975 scopus 로고
    • Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons
    • Thompson, A. 1846. Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Monthly J. Med. Sci. 7: 420.
    • (1846) Monthly J. Med. Sci. , vol.7 , pp. 420
    • Thompson, A.1
  • 37
    • 0000450953 scopus 로고
    • Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones
    • Treacher Collins, E. 1900. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans. Ophthalmol. Soc. U.K. 20: 190-192.
    • (1900) Trans. Ophthalmol. Soc. U.K. , vol.20 , pp. 190-192
    • Treacher Collins, E.1
  • 38
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • Treacher Collins Syndrome Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet. 12: 130-136.
    • (1996) Nature Genet. , vol.12 , pp. 130-136
  • 39
    • 0025796584 scopus 로고
    • Use of 3′ untranslated sequences of human cDNAs for rapid chromosome assignment and conversion to STSs: Implications for an expression map of the genome
    • Wilcox, A.S., A.S Khan, J.A. Hopkins, and J.M. Sikela. 1991. Use of 3′ untranslated sequences of human cDNAs for rapid chromosome assignment and conversion to STSs: Implications for an expression map of the genome. Nucleic Acids Res. 19: 1837-1843.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 1837-1843
    • Wilcox, A.S.1    Khan, A.S.2    Hopkins, J.A.3    Sikela, J.M.4
  • 40
    • 0020638690 scopus 로고
    • Effects of retinoic acid on the development of the facial skeleton in hamsters: Early changes involving cranial neural crest cells
    • Wiley, M.J., P. Cauwenbergs, and I.M. Taylor. 1983. Effects of retinoic acid on the development of the facial skeleton in hamsters: Early changes involving cranial neural crest cells. Acta Anat. 116: 180-192.
    • (1983) Acta Anat. , vol.116 , pp. 180-192
    • Wiley, M.J.1    Cauwenbergs, P.2    Taylor, I.M.3


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