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Volumn 50, Issue 2, 2008, Pages 143-146

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

Author keywords

CYLD; Mutation; Trichoepithelioma

Indexed keywords

ADULT; AGED; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CYLD GENE; FAMILY HISTORY; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; LETTER; MALE; MISSENSE MUTATION; MULTIPLE FAMILIAL TRICHOEPITHELIOMA; PAPULE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY; SKIN NODULE; TRICHOEPITHELIOMA; TUMOR SUPPRESSOR GENE;

EID: 41149109461     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.11.012     Document Type: Letter
Times cited : (14)

References (10)
  • 1
    • 11144356084 scopus 로고    scopus 로고
    • Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma
    • Zhang X.J., Liang Y.H., He P.P., Yang S., Wang H.Y., Chen J.J., et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 122 (2004) 658-664
    • (2004) J Invest Dermatol , vol.122 , pp. 658-664
    • Zhang, X.J.1    Liang, Y.H.2    He, P.P.3    Yang, S.4    Wang, H.Y.5    Chen, J.J.6
  • 2
  • 3
    • 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., and Celebi J.T. Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. Clin Exp Dermatol 28 (2003) 539-541
    • (2003) Clin Exp Dermatol , vol.28 , pp. 539-541
    • Scheinfeld, N.1    Hu, G.2    Gill, M.3    Austin, C.4    Celebi, J.T.5
  • 4
    • 0042467558 scopus 로고    scopus 로고
    • CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members
    • Trompouki E., Hatzivassiliou E., Tsichritzis T., Farmer H., Ashworth A., and Mosialos G. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature 424 (2003) 793-796
    • (2003) Nature , vol.424 , pp. 793-796
    • Trompouki, E.1    Hatzivassiliou, E.2    Tsichritzis, T.3    Farmer, H.4    Ashworth, A.5    Mosialos, G.6
  • 5
    • 4344561190 scopus 로고    scopus 로고
    • NF-kappaB is essential for induction of CYLD, the negative regulator of NF-kappaB: evidence for a novel inducible autoregulatory feedback pathway
    • Jono H., Lim J.H., Chen L.F., Xu H., Trompouki E., Pan Z.K., et al. NF-kappaB is essential for induction of CYLD, the negative regulator of NF-kappaB: evidence for a novel inducible autoregulatory feedback pathway. J Biol Chem 279 (2004) 36171-36174
    • (2004) J Biol Chem , vol.279 , pp. 36171-36174
    • Jono, H.1    Lim, J.H.2    Chen, L.F.3    Xu, H.4    Trompouki, E.5    Pan, Z.K.6
  • 6
    • 0346333095 scopus 로고    scopus 로고
    • The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor
    • Regamey A., Hohl D., Liu J.W., Roger T., Kogerman P., Toftgard R., et al. The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor. J Exp Med 198 (2003) 1959-1964
    • (2003) J Exp Med , vol.198 , pp. 1959-1964
    • Regamey, A.1    Hohl, D.2    Liu, J.W.3    Roger, T.4    Kogerman, P.5    Toftgard, R.6
  • 7
    • 2342647586 scopus 로고    scopus 로고
    • CYLD mutation causes multiple familial trichoepithelioma in three Chinese families
    • Zheng G.Y., Hu L.D., Huang W., Chen K.D., Zhang X.J., Yang S., et al. CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. Hum Mutat 23 (2004) 400
    • (2004) Hum Mutat , vol.23 , pp. 400
    • Zheng, G.Y.1    Hu, L.D.2    Huang, W.3    Chen, K.D.4    Zhang, X.J.5    Yang, S.6
  • 8
    • 3442883360 scopus 로고    scopus 로고
    • Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene
    • Salhi A., Bornholdt D., Oeffner F., Malik S., Heid E., Happle R., et al. Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. Cancer Res 64 (2004) 5113-5117
    • (2004) Cancer Res , vol.64 , pp. 5113-5117
    • Salhi, A.1    Bornholdt, D.2    Oeffner, F.3    Malik, S.4    Heid, E.5    Happle, R.6
  • 9
    • 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 D.A., Fisher G., Geronemus R.G., Vazquez M.E., 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 124 (2005) 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
  • 10
    • 28844445633 scopus 로고    scopus 로고
    • Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China
    • Liang Y.H., Gao M., Sun L.D., Liu L.J., Cui Y., Yang S., et al. Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. Br J Dermatol 153 (2005) 1213-1215
    • (2005) Br J Dermatol , vol.153 , pp. 1213-1215
    • Liang, Y.H.1    Gao, M.2    Sun, L.D.3    Liu, L.J.4    Cui, Y.5    Yang, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.