메뉴 건너뛰기




Volumn 27, Issue 12, 2013, Pages 1571-1574

Two novel mutations of the NCSTN gene in Chinese familial acne inverse

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA SECRETASE; GENOMIC DNA;

EID: 84888206173     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2012.04627.x     Document Type: Article
Times cited : (33)

References (18)
  • 1
    • 0034078738 scopus 로고    scopus 로고
    • The clinical genetics of hidradenitis suppurativa revisited
    • Von Der Werth JM, Williams HC, Raeburn JA,. The clinical genetics of hidradenitis suppurativa revisited. Br J Dermatol 2000; 142: 947-953.
    • (2000) Br J Dermatol , vol.142 , pp. 947-953
    • Von Der Werth, J.M.1    Williams, H.C.2    Raeburn, J.A.3
  • 2
    • 79952189445 scopus 로고    scopus 로고
    • Hidradenitis suppurativa: A review of cause and treatment
    • Yazdanyar S, Jemec GB,. Hidradenitis suppurativa: a review of cause and treatment. Curr Opin Infect Dis 2011; 24: 118-123.
    • (2011) Curr Opin Infect Dis , vol.24 , pp. 118-123
    • Yazdanyar, S.1    Jemec, G.B.2
  • 3
    • 78349251342 scopus 로고    scopus 로고
    • Hidradenitis suppurativa and concomitant pyoderma gangrenosum: A case series and literature review
    • Hsiao JL, Antaya RJ, Berger T, Maurer T, Shinkai K, Leslie KS,. Hidradenitis suppurativa and concomitant pyoderma gangrenosum: a case series and literature review. Arch Dermatol 2010; 146: 1265-1270.
    • (2010) Arch Dermatol , vol.146 , pp. 1265-1270
    • Hsiao, J.L.1    Antaya, R.J.2    Berger, T.3    Maurer, T.4    Shinkai, K.5    Leslie, K.S.6
  • 4
    • 34547808291 scopus 로고    scopus 로고
    • Epidemioloy
    • In Jemec G.B. Revuz J. Leyden J. eds. Springer, Berlin (Germany).
    • Naldi L,. Epidemioloy. In, Jemec GB, Revuz J, Leyden J,. eds. Hidradenitis suppurativa. Springer, Berlin (Germany), 2006: 58-64.
    • (2006) Hidradenitis Suppurativa , pp. 58-64
    • Naldi, L.1
  • 5
    • 51349113269 scopus 로고    scopus 로고
    • Prevalence and factors associated with hidradenitis suppurativa: Results from two case-control
    • Rvuz JE, Canoui-Poitrine F, Wolkenstein P, et al. Prevalence and factors associated with hidradenitis suppurativa: results from two case-control. J Am Acad Dermatol 2008; 59: 596-601.
    • (2008) J Am Acad Dermatol , vol.59 , pp. 596-601
    • Rvuz, J.E.1    Canoui-Poitrine, F.2    Wolkenstein, P.3
  • 6
    • 40949164262 scopus 로고    scopus 로고
    • Toll-like receptor 2 is highly expressed in lesions of acne inversa and colocalizes with C-type lectin receptor
    • Hunger RE, Surovy AM, Hassan AS, Braathen LR, Yawalkar N,. Toll-like receptor 2 is highly expressed in lesions of acne inversa and colocalizes with C-type lectin receptor. Br J Dermatol 2008; 158: 691-697.
    • (2008) Br J Dermatol , vol.158 , pp. 691-697
    • Hunger, R.E.1    Surovy, A.M.2    Hassan, A.S.3    Braathen, L.R.4    Yawalkar, N.5
  • 7
    • 71949106893 scopus 로고    scopus 로고
    • Treatment of hidradenitis suppurativa with tumour necrosis factor-alpha inhibitors
    • Haslund P, Lee RA, Jemec GB,. Treatment of hidradenitis suppurativa with tumour necrosis factor-alpha inhibitors. Acta Derm Venereol 2009; 89: 595-600.
    • (2009) Acta Derm Venereol , vol.89 , pp. 595-600
    • Haslund, P.1    Lee, R.A.2    Jemec, G.B.3
  • 8
    • 67349262339 scopus 로고    scopus 로고
    • Clinical characteristics of a series of 302 French patients suffering from hidradenitis suppurativa, with an analysis of factors associated with disease severity
    • Canoui-Poitrine F, Revuz J, Wolkenstein P, et al. Clinical characteristics of a series of 302 French patients suffering from hidradenitis suppurativa, with an analysis of factors associated with disease severity. J Am Acad Dermatol 2009; 61: 51-57.
    • (2009) J Am Acad Dermatol , vol.61 , pp. 51-57
    • Canoui-Poitrine, F.1    Revuz, J.2    Wolkenstein, P.3
  • 10
    • 33745580349 scopus 로고    scopus 로고
    • Inversa acne (hidradenitis suppurativa): A case report and identification of the locus at chromosome 1p21.1-1q25.3
    • Gao M, Wang PG, Cui Y, et al. Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3. J Invest Dermatol 2006; 126: 1302-1306.
    • (2006) J Invest Dermatol , vol.126 , pp. 1302-1306
    • Gao, M.1    Wang, P.G.2    Cui, Y.3
  • 11
    • 78449287185 scopus 로고    scopus 로고
    • Gamma-secretase gene mutations in familial acne inversa
    • Wang B, Yang W, Wen W, et al. Gamma-secretase gene mutations in familial acne inversa. Science 2010; 330: 1065.
    • (2010) Science , vol.330 , pp. 1065
    • Wang, B.1    Yang, W.2    Wen, W.3
  • 12
    • 79958816937 scopus 로고    scopus 로고
    • PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa)
    • Pink AE, Simpson MA, Brice GW, et al. PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). J Invest Dermatol 2011; 131: 1568-1570.
    • (2011) J Invest Dermatol , vol.131 , pp. 1568-1570
    • Pink, A.E.1    Simpson, M.A.2    Brice, G.W.3
  • 13
    • 79958806209 scopus 로고    scopus 로고
    • Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa)
    • Liu Y, Gao M, Lv YM, et al. Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa). J Invest Dermatol 2011; 131: 1570-1572.
    • (2011) J Invest Dermatol , vol.131 , pp. 1570-1572
    • Liu, Y.1    Gao, M.2    Lv, Y.M.3
  • 14
    • 79960652604 scopus 로고    scopus 로고
    • Two novel mutations of the nicastrin gene in Chinese patients with acne inversa
    • Li CR, Jiang MJ, Shen DB, et al. Two novel mutations of the nicastrin gene in Chinese patients with acne inversa. Br J Dermatol 2011; 165: 415-418.
    • (2011) Br J Dermatol , vol.165 , pp. 415-418
    • Li, C.R.1    Jiang, M.J.2    Shen, D.B.3
  • 15
    • 0032556859 scopus 로고    scopus 로고
    • Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
    • De Strooper B, Saftig P, Craessaerts K, et al. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature 1998; 391: 387-390.
    • (1998) Nature , vol.391 , pp. 387-390
    • De Strooper, B.1    Saftig, P.2    Craessaerts, K.3
  • 16
    • 0033535504 scopus 로고    scopus 로고
    • A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain
    • De Strooper B, Annaert W, Cupers P, et al. A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature 1999; 398: 518-522.
    • (1999) Nature , vol.398 , pp. 518-522
    • De Strooper, B.1    Annaert, W.2    Cupers, P.3
  • 17
    • 84888206351 scopus 로고    scopus 로고
    • Hidradenitis Suppurativa Foundation. San Diego, California 92129
    • Hidradenitis Suppurativa Foundation. San Diego, California 92129. www.hs- foundation.org.
  • 18
    • 70350458706 scopus 로고    scopus 로고
    • Single chain variable fragment against nicastrin inhibits the gamma-secretase activity
    • Hayashi I, Takatori S, Urano Y, et al. Single chain variable fragment against nicastrin inhibits the gamma-secretase activity. J Biol Chem 2009; 284: 27838-27847.
    • (2009) J Biol Chem , vol.284 , pp. 27838-27847
    • Hayashi, I.1    Takatori, S.2    Urano, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.