메뉴 건너뛰기




Volumn 297, Issue 5, 2005, Pages 226-230

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

Author keywords

Alopecia; Atrichia with papular lesion; Hairless gene

Indexed keywords

HAIRLESS PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 27744462510     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-005-0593-5     Document Type: Article
Times cited : (14)

References (24)
  • 2
    • 0033499173 scopus 로고    scopus 로고
    • A Homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia
    • Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano AM (1999) A Homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. J Invest Dermatol 113:281-283
    • (1999) J Invest Dermatol , vol.113 , pp. 281-283
    • Ahmad, W.1    Nomura, K.2    McGrath, J.A.3    Hashimoto, I.4    Christiano, A.M.5
  • 4
    • 0033105801 scopus 로고    scopus 로고
    • Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family
    • Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, ul Haque MF, Abdallah HM, Dragan L, Christiano AM (1999) Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics 56:141-148
    • (1999) Genomics , vol.56 , pp. 141-148
    • Ahmad, W.1    Zlotogorski, A.2    Panteleyev, A.A.3    Lam, H.4    Ahmad, M.5    Ul Haque, M.F.6    Abdallah, H.M.7    Dragan, L.8    Christiano, A.M.9
  • 5
    • 0034124694 scopus 로고    scopus 로고
    • A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions
    • Aita VM, Ahmad W, Panteleyev AA, Kozlowska U, Kozlowska A, Gilliam TC, Jablonska S, Christiano AM (2000) A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. Exp Dermatol 9:157-162
    • (2000) Exp Dermatol , vol.9 , pp. 157-162
    • Aita, V.M.1    Ahmad, W.2    Panteleyev, A.A.3    Kozlowska, U.4    Kozlowska, A.5    Gilliam, T.C.6    Jablonska, S.7    Christiano, A.M.8
  • 6
    • 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
  • 8
    • 0036788824 scopus 로고    scopus 로고
    • Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis
    • Henn W, Zlotogorski A, Lam H, Martinez-Mir A, Zaun H, Christiano AM (2002) Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: a lesson for differential diagnosis of alopecia universalis. J Am Acad Dermatol 47:519-523
    • (2002) J Am Acad Dermatol , vol.47 , pp. 519-523
    • Henn, W.1    Zlotogorski, A.2    Lam, H.3    Martinez-Mir, A.4    Zaun, H.5    Christiano, A.M.6
  • 9
    • 0037362494 scopus 로고    scopus 로고
    • Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions
    • Indelman M, Bergman R, Lestringant GG, Peer G, Sprecher E (2003) Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. Br J Dermatol 148:553-557
    • (2003) Br J Dermatol , vol.148 , pp. 553-557
    • Indelman, M.1    Bergman, R.2    Lestringant, G.G.3    Peer, G.4    Sprecher, E.5
  • 10
    • 0036431506 scopus 로고    scopus 로고
    • A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia
    • Klein I, Bergman R, Indelman M, Sprecher E (2002) A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J Invest Dermatol 119:920-922
    • (2002) J Invest Dermatol , vol.119 , pp. 920-922
    • Klein, I.1    Bergman, R.2    Indelman, M.3    Sprecher, E.4
  • 12
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
    • (1996) Am J Hum Genet , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 15
    • 0033814577 scopus 로고    scopus 로고
    • Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling
    • Panteleyev AA, Ralf P, Christiano AM (2000) Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling. Am J Pathol 157:1071-1079
    • (2000) Am J Pathol , vol.157 , pp. 1071-1079
    • Panteleyev, A.A.1    Ralf, P.2    Christiano, A.M.3
  • 17
    • 0035887252 scopus 로고    scopus 로고
    • The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
    • Potter GB, Beaudoin GM 3rd, DeRenzo CL, Zarach JM, Chen SH, Thompson CC (2001) The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor. Genes Dev 15:2687-2701
    • (2001) Genes Dev , vol.15 , pp. 2687-2701
    • Potter, G.B.1    Beaudoin III, G.M.2    DeRenzo, C.L.3    Zarach, J.M.4    Chen, S.H.5    Thompson, C.C.6
  • 19
    • 0033364733 scopus 로고    scopus 로고
    • Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias
    • Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N (1999) Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. Am J Hum Genet 64:1323-1329
    • (1999) Am J Hum Genet , vol.64 , pp. 1323-1329
    • Sprecher, E.1    Bergman, R.2    Szargel, R.3    Friedman-Birnbaum, R.4    Cohen, N.5
  • 21
    • 0030737945 scopus 로고    scopus 로고
    • The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors
    • USA
    • Thompson CC, Bottcher MC (1997) The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors. Proc Natl Acad Sci USA 94:8527-8532
    • (1997) Proc Natl Acad Sci , vol.94 , pp. 8527-8532
    • Thompson, C.C.1    Bottcher, M.C.2
  • 22
    • 0031723522 scopus 로고    scopus 로고
    • Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
    • Zlotogorski A, Ahmad W, Christiano AM (1998) Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum Genet 103:400-404
    • (1998) Hum Genet , vol.103 , pp. 400-404
    • Zlotogorski, A.1    Ahmad, W.2    Christiano, A.M.3
  • 24
    • 0036097067 scopus 로고    scopus 로고
    • Clinical and Molecular diagnostic criteria of congenital atrichia with papular lesions
    • Zlotogorski A, Panteleyev AA, Aita VM, and Christiano AM (2002) Clinical and Molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 118:887-890
    • (2002) J Invest Dermatol , vol.118 , pp. 887-890
    • Zlotogorski, A.1    Panteleyev, A.A.2    Aita, V.M.3    Christiano, A.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.