메뉴 건너뛰기




Volumn 93, Issue 6, 2013, Pages 743-745

A mutational hotspot in CYLD causing cylindromas: A comparison of phenotypes arising in different genetic backgrounds

Author keywords

[No Author keywords available]

Indexed keywords

ADENOID CYSTIC CARCINOMA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CYLINDROMATOSIS GENE; EXON; HAPLOTYPE; HIDRADENOMA; HUMAN; INTRON; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; TRICHOEPITHELIOMA; TUMOR GENE;

EID: 84886439415     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1590     Document Type: Article
Times cited : (11)

References (12)
  • 1
    • 3142512147 scopus 로고
    • Turban tumour
    • Evans CD. Turban tumour. Br J Dermatol 1954; 66: 434-443.
    • (1954) Br J Dermatol , vol.66 , pp. 434-443
    • Evans, C.D.1
  • 3
    • 67649672157 scopus 로고    scopus 로고
    • Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: Novel insights into the role of deubiquitination in cell signaling
    • Blake PW, Toro JR. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat 2009; 30: 1025-1036.
    • (2009) Hum Mutat , vol.30 , pp. 1025-1036
    • Blake, P.W.1    Toro, J.R.2
  • 4
    • 77953166790 scopus 로고    scopus 로고
    • Brooke-Spiegler syndrome: Report of 10 patients from 8 families with novel germline mutations: Evidence of diverse somatic mutations in the same patients regardless of tumor types
    • Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, et al. Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patients regardless of tumor types. Diagn Mol Pathol 2010; 19: 83-91.
    • (2010) Diagn Mol Pathol , vol.19 , pp. 83-91
    • Sima, R.1    Vanecek, T.2    Kacerovska, D.3    Trubac, P.4    Cribier, B.5    Rutten, A.6
  • 5
    • 79958214511 scopus 로고    scopus 로고
    • Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression
    • Rajan N, Burn J, Langtry, J Sieber-Blum M, Lord CJ, Ashworth A. Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression. J Pathol 2011; 224: 309-321.
    • (2011) J Pathol , vol.224 , pp. 309-321
    • Rajan, N.1    Burn, J.2    Langtry, J.3    Sieber-Blum, M.4    Lord, C.J.5    Ashworth, A.6
  • 6
    • 80054044033 scopus 로고    scopus 로고
    • Dysregulated TRK signaling is a therapeutic target in CYLD defective tumors
    • Rajan N, Elliott R, Clewes O, Mackay A, Reis-Filho JS, Burn J, et al. Dysregulated TRK signaling is a therapeutic target in CYLD defective tumors. Oncogene 2011; 30: 4243-4260.
    • (2011) Oncogene , vol.30 , pp. 4243-4260
    • Rajan, N.1    Elliott, R.2    Clewes, O.3    Mackay, A.4    Reis-Filho, J.S.5    Burn, J.6
  • 7
    • 18244384708 scopus 로고    scopus 로고
    • Mutations in the CYLD gene in Brooke- Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: Lack of genotype-phenotype correlation
    • Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, et al. Mutations in the CYLD gene in Brooke- Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol 2005; 124: 919-920.
    • (2005) J Invest Dermatol , vol.124 , pp. 919-920
    • Bowen, S.1    Gill, M.2    Lee, D.A.3    Fisher, G.4    Geronemus, R.G.5    Vazquez, M.E.6
  • 9
    • 65949122102 scopus 로고    scopus 로고
    • Truncation of the catalytic domain of the cylindromatosis tumor suppressor impairs lung maturation
    • Trompouki E, Tsagaratou A, Kosmidis SK, Dollé P, Qian J, Kontoyiannis DL, et al. Truncation of the catalytic domain of the cylindromatosis tumor suppressor impairs lung maturation. Neoplasia 2009; 11: 469-476.
    • (2009) Neoplasia , vol.11 , pp. 469-476
    • Trompouki, E.1    Tsagaratou, A.2    Kosmidis, S.K.3    Dollé, P.4    Qian, J.5    Kontoyiannis, D.L.6
  • 10
    • 0041909835 scopus 로고    scopus 로고
    • Identification of a recurrent mutation in the CYLD gene in Brooke- Spiegler syndrome
    • Scheinfeld N, Hu G, Gill M, Austin C, Celebi JT. Identification of a recurrent mutation in the CYLD gene in Brooke- Spiegler syndrome. Exp Dermatol 2003; 28: 539-541.
    • (2003) Exp Dermatol , vol.28 , pp. 539-541
    • Scheinfeld, N.1    Hu, G.2    Gill, M.3    Austin, C.4    Celebi, J.T.5
  • 11
    • 0036038158 scopus 로고    scopus 로고
    • Phenotype diversity in familial cylindromatosis: A frameshift mutation in the tumour suppressor gene CYLD underlies different tumours of skin appendages
    • Gutierrez PP, Eggermann T, Holler D, Jugert FK, Beermann T, Grussendorf-Conen EI, et al. Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumour suppressor gene CYLD underlies different tumours of skin appendages. J Invest Dermatol 2002; 119: 527-531.
    • (2002) J Invest Dermatol , vol.119 , pp. 527-531
    • Gutierrez, P.P.1    Eggermann, T.2    Holler, D.3    Jugert, F.K.4    Beermann, T.5    Grussendorf-Conen, E.I.6
  • 12
    • 72749085283 scopus 로고    scopus 로고
    • Tumor mapping in two large multigeneration families with CYLD mutations: Implications for patient management and tumor induction
    • Rajan N, Langtry JA, Ashworth, Roberts C, Chapman P, Burn J, et al. Tumor mapping in two large multigeneration families with CYLD mutations: implications for patient management and tumor induction. Arch Dermatol 2009; 145: 1277-1284.
    • (2009) Arch Dermatol , vol.145 , pp. 1277-1284
    • Rajan, N.1    Langtry, J.A.2    Ashworth, R.C.3    Chapman, P.4    Burn, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.