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Volumn 298, Issue 3, 2006, Pages 135-137

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

Author keywords

DSG4; Pakistani families of Balochi and Sindhi origins; Recurrent mutation

Indexed keywords

DESMOGLEIN;

EID: 33748418037     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-006-0671-3     Document Type: Article
Times cited : (23)

References (14)
  • 1
    • 8744284161 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive form of hypotricosis maps to chromosome 3q26.33-q27.3
    • Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM, Ahmad W (2004) A novel locus for autosomal recessive form of hypotricosis maps to chromosome 3q26.33-q27.3. J Med Genet 41:849-852
    • (2004) J Med Genet , vol.41 , pp. 849-852
    • Aslam, M.1    Chahrour, M.H.2    Razzaq, A.3    Haque, S.4    Yan, K.5    Leal, S.M.6    Ahmad, W.7
  • 2
    • 21644461500 scopus 로고    scopus 로고
    • Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat
    • Bazzi H, Kljuic A, Christiano AM, Panteleyev AA (2004) Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Differentiation 72:450-464
    • (2004) Differentiation , vol.72 , pp. 450-464
    • Bazzi, H.1    Kljuic, A.2    Christiano, A.M.3    Panteleyev, A.A.4
  • 5
    • 0141865704 scopus 로고    scopus 로고
    • Untangling desmosomal knots with electron tomography
    • He W, Cowin P, Stokes DL (2003) Untangling desmosomal knots with electron tomography. Science 302:109-113
    • (2003) Science , vol.302 , pp. 109-113
    • He, W.1    Cowin, P.2    Stokes, D.L.3
  • 7
    • 0036228744 scopus 로고    scopus 로고
    • Intercellular adhesion, signalling and the cytoskeleton
    • Jamora C, Fuchs E (2002) Intercellular adhesion, signalling and the cytoskeleton. Nat Cell Biol 4:101-108
    • (2002) Nat Cell Biol , vol.4 , pp. 101-108
    • Jamora, C.1    Fuchs, E.2
  • 9
    • 33644802963 scopus 로고    scopus 로고
    • A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis
    • Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM (2005) A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 125:1077-1079
    • (2005) J Invest Dermatol , vol.125 , pp. 1077-1079
    • Messenger, A.G.1    Bazzi, H.2    Parslew, R.3    Shapiro, L.4    Christiano, A.M.5
  • 11
    • 4143091624 scopus 로고    scopus 로고
    • A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis
    • Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM (2004) A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 123:607-610
    • (2004) J Invest Dermatol , vol.123 , pp. 607-610
    • Moss, C.1    Martinez-Mir, A.2    Lam, H.3    Tadin-Strapps, M.4    Kljuic, A.5    Christiano, A.M.6
  • 13
    • 3042587550 scopus 로고    scopus 로고
    • A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
    • Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W (2004) A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol 123:247-248
    • (2004) J Invest Dermatol , vol.123 , pp. 247-248
    • Rafiq, M.A.1    Ansar, M.2    Mahmood, S.3    Haque, S.4    Faiyaz-ul-Haque, M.5    Leal, S.M.6    Ahmad, W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.