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Volumn 32, Issue 3, 1996, Pages 471-473

Genomic organization of the human heparan sulfate-N-deacetylase/ N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of treacher collins syndrome

Author keywords

[No Author keywords available]

Indexed keywords

HEPARAN SULFATE; SULFOTRANSFERASE;

EID: 0029916643     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0145     Document Type: Article
Times cited : (13)

References (13)
  • 1
    • 0019363396 scopus 로고
    • Organization and expression of eukaryotic split genes coding for proteins
    • Breathnach, R., and Chambon, P. (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
  • 3
    • 0026894214 scopus 로고
    • Genetic and physical mapping of the Treacher Collins syndrome locus: Refinement of the localization to chromosome 5q32-33.2
    • Dixon, M. J., Dixon, J., Raskova, D., Le Beau, M. M., Williamson, R., Klinger, K, and Landes, G. M. (1992). Genetic and physical mapping of the Treacher Collins syndrome locus: Refinement of the localization to chromosome 5q32-33.2. Hum. Mol. Genet. 1: 249-253.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 249-253
    • Dixon, M.J.1    Dixon, J.2    Raskova, D.3    Le Beau, M.M.4    Williamson, R.5    Klinger, K.6    Landes, G.M.7
  • 4
    • 0028917248 scopus 로고
    • Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-33.1
    • Dixon, J., Loftus, S. K., Gladwin, A. J., Scambler, P. J., Wasmuth, J. J., and Dixon, M. J. (1995). Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-33.1. Genomics 26: 239-244.
    • (1995) Genomics , vol.26 , pp. 239-244
    • Dixon, J.1    Loftus, S.K.2    Gladwin, A.J.3    Scambler, P.J.4    Wasmuth, J.J.5    Dixon, M.J.6
  • 5
    • 0029243620 scopus 로고
    • Craniofacial syndromes: No such thing as a single gene disease
    • Mulvihill, J. J. (1995). Craniofacial syndromes: No such thing as a single gene disease. Nature Genet. 9: 101-103.
    • (1995) Nature Genet. , vol.9 , pp. 101-103
    • Mulvihill, J.J.1
  • 6
    • 0016728179 scopus 로고
    • The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis)
    • Poswillo, D. (1975). The pathogenesis of the 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
  • 7
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro, M. B., and Senapathy, P. (1987). RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15: 7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 8
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield, V. C., Beck, J. S., Kwitek, A. E., Sandstrom, D. W., and Stone, E. M. (1993). The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16: 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 9
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang, R., Thompson, L. M., Ya-Zhen, Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T., and Wasmuth, J. J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 1-20.
    • (1994) Cell , vol.78 , pp. 1-20
    • Shiang, R.1    Thompson, L.M.2    Ya-Zhen, Z.3    Church, D.M.4    Fielder, T.J.5    Bocian, M.6    Winokur, S.T.7    Wasmuth, J.J.8
  • 11
    • 0026727774 scopus 로고
    • Identification of the basic FGF binding sequence in fibroblast heparan sulphate
    • Turnbull, J. E., Fernig, D., Ke, Y., Wilkinson, M. C., and Gallagher, J. T. (1992). Identification of the basic FGF binding sequence in fibroblast heparan sulphate. J. Biol. Chem. 267: 10337-10341.
    • (1992) J. Biol. Chem. , vol.267 , pp. 10337-10341
    • Turnbull, J.E.1    Fernig, D.2    Ke, Y.3    Wilkinson, M.C.4    Gallagher, J.T.5
  • 12
    • 0027294764 scopus 로고
    • A single protein catalyses both N-deacetylation and N-sulfation during the biosynthesis of heparan sulfate
    • Wei, Z., Swiedler, S. J., Ishihara, M., Orellana, A., and Hirschberg, C. B. (1993). A single protein catalyses both N-deacetylation and N-sulfation during the biosynthesis of heparan sulfate. Proc. Natl. Acad. Sci. USA 90: 3885-3888.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 3885-3888
    • Wei, Z.1    Swiedler, S.J.2    Ishihara, M.3    Orellana, A.4    Hirschberg, C.B.5
  • 13
    • 0027272951 scopus 로고
    • Construction of cosmid contigs and high resolution restriction mapping of the Huntington disease region of human chromosome 4
    • Zuo, J., Robbins, C., Baharloo, S., Cox, D. R., and Myers, R. M. (1993). Construction of cosmid contigs and high resolution restriction mapping of the Huntington disease region of human chromosome 4. Hum. Mol. Genet. 2: 889-899.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 889-899
    • Zuo, J.1    Robbins, C.2    Baharloo, S.3    Cox, D.R.4    Myers, R.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.