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Volumn 50, Issue 1, 2008, Pages 73-75

A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN PATCHED 1;

EID: 39149098144     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.10.009     Document Type: Letter
Times cited : (5)

References (10)
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    • (1996) Cell , vol.85 , pp. 841-851
    • Hahn, H.1    Wicking, C.2    Zaphiropoulous, P.G.3    Gailani, M.R.4    Shanley, S.5    Chidambaram, A.6
  • 2
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    • Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system
    • Wolter M., Reifenberger J., Sommer C., Ruzicka T., and Reifenberger G. Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 57 (1997) 2581-2585
    • (1997) Cancer Res , vol.57 , pp. 2581-2585
    • Wolter, M.1    Reifenberger, J.2    Sommer, C.3    Ruzicka, T.4    Reifenberger, G.5
  • 3
    • 0032694528 scopus 로고    scopus 로고
    • Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice
    • Aszterbaum M., Epstein J., Oro A., Douglas V., LeBoit P.E., Scott M.P., et al. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nat Med 5 (1999) 1285-1291
    • (1999) Nat Med , vol.5 , pp. 1285-1291
    • Aszterbaum, M.1    Epstein, J.2    Oro, A.3    Douglas, V.4    LeBoit, P.E.5    Scott, M.P.6
  • 4
    • 0027231001 scopus 로고
    • Complications of the naevoid basal cell carcinoma syndrome: results of a population based study
    • Evans D.G., Ladusans E.J., Rimmer S., Burnell L.D., Thakker N., and Farndon P.A. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 (1993) 460-464
    • (1993) J Med Genet , vol.30 , pp. 460-464
    • Evans, D.G.1    Ladusans, E.J.2    Rimmer, S.3    Burnell, L.D.4    Thakker, N.5    Farndon, P.A.6
  • 6
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    • Cholesterol modification of hedgehog is required for trafficking and movement, revealing an asymmetric cellular response to hedgehog
    • Gallet A., Rodriguez R., Ruel L., and Therond P.P. Cholesterol modification of hedgehog is required for trafficking and movement, revealing an asymmetric cellular response to hedgehog. Dev Cell 4 (2003) 191-204
    • (2003) Dev Cell , vol.4 , pp. 191-204
    • Gallet, A.1    Rodriguez, R.2    Ruel, L.3    Therond, P.P.4
  • 7
    • 33746718114 scopus 로고    scopus 로고
    • DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain
    • Marsh A., Wicking C., Wainwright B., and Chenevix-Trench G. DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat 26 (2005) 283
    • (2005) Hum Mutat , vol.26 , pp. 283
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  • 8
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    • Products, genetic linkage and limb patterning activity of a murine hedgehog gene
    • Chang D.T., Lopez A., von Kessler D.P., Chiang C., Simandl B.K., Zhao R., et al. Products, genetic linkage and limb patterning activity of a murine hedgehog gene. Development 120 (1994) 3339-3353
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    • Chang, D.T.1    Lopez, A.2    von Kessler, D.P.3    Chiang, C.4    Simandl, B.K.5    Zhao, R.6
  • 9
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    • The use of Toll-like receptor-7 agonist in the treatment of basal cell carcinoma: an overview
    • Stockfleth E., Trefzer U., Garcia-Bartels C., Wegner T., Schmook T., and Sterry W. The use of Toll-like receptor-7 agonist in the treatment of basal cell carcinoma: an overview. Br J Dermatol 149 Suppl. 66 (2003) 53-56
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  • 10
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    • Goodrich, L.V.1    Milenković, L.2    Higgins, K.M.3    Scott, M.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.