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Volumn 113, Issue 6, 1999, Pages 954-959

Novel hairless mutations in two kindreds with autosomal recessive papular atrichia

Author keywords

Hair development; Keratinous cysts; Ossification; Universal congenital alopecia

Indexed keywords

ASPARAGINE; ASPARTIC ACID; GUANINE; NUCLEOTIDE; SERINE;

EID: 0033386222     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00790.x     Document Type: Article
Times cited : (56)

References (21)
  • 1
    • 6844265562 scopus 로고    scopus 로고
    • Alopecia universalis associated with a mutation in the human hairless gene
    • Ahmad W, Faiyaz ul Haque M, Brancolini V, et al: Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720-724, 1998a
    • (1998) Science , vol.279 , pp. 720-724
    • Ahmad, W.1    Faiyaz Ul Haque, M.2    Brancolini, V.3
  • 2
    • 0032231885 scopus 로고    scopus 로고
    • A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
    • Ahmad W, Irvine AD, Lam H, et al: A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 63:984-991, 1998b
    • (1998) Am J Hum Genet , vol.63 , pp. 984-991
    • Ahmad, W.1    Irvine, A.D.2    Lam, H.3
  • 3
    • 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, et al: 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
    • (1999) Genomics , vol.56 , pp. 141-148
    • Ahmad, W.1    Zlotogorski, A.2    Panteleyev, A.A.3
  • 6
    • 7344229369 scopus 로고    scopus 로고
    • Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal-recessive universal congenital alopecia
    • Cichon S, Anker M, Vogt IR, et al: Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal-recessive universal congenital alopecia. Hum Mol Genet 7:1671-1679, 1998
    • (1998) Hum Mol Genet , vol.7 , pp. 1671-1679
    • Cichon, S.1    Anker, M.2    Vogt, I.R.3
  • 7
    • 0018875399 scopus 로고
    • Atrichia congenita mit hornzysten - Variante einer partiellen ektodermalen dysplasie
    • Czarnecki N, Stingl G: Atrichia congenita mit Hornzysten - Variante einer partiellen ektodermalen Dysplasie. Z Hautkr 55:210-217, 1980
    • (1980) Z Hautkr , vol.55 , pp. 210-217
    • Czarnecki, N.1    Stingl, G.2
  • 8
    • 0000482195 scopus 로고
    • Atrichia with papular lesions: A variant of congenital ectodermal dysplasia
    • Damsté J, Prakken JR: Atrichia with papular lesions: a variant of congenital ectodermal dysplasia. Dermatologica 108:114-121, 1954
    • (1954) Dermatologica , vol.108 , pp. 114-121
    • Damsté, J.1    Prakken, J.R.2
  • 10
    • 0008951885 scopus 로고
    • Congenital and familial alopecia totalis
    • Gillespie J: Congenital and familial alopecia totalis. Am J Dis Childr 53:132-136, 1937
    • (1937) Am J Dis Childr , vol.53 , pp. 132-136
    • Gillespie, J.1
  • 11
    • 0008937912 scopus 로고
    • Atrichia congenita und innere sekretion
    • Josefson A: Atrichia congenita und innere Sekretion. Arch Dermatol Syph 123:139-144, 1916
    • (1916) Arch Dermatol Syph , vol.123 , pp. 139-144
    • Josefson, A.1
  • 13
  • 14
    • 0015102066 scopus 로고
    • Hair loss and cyst formation in hairless and rhino mutant mice
    • Mann SJ: Hair loss and cyst formation in hairless and rhino mutant mice. Anat Rec 170:485-499, 1971
    • (1971) Anat Rec , vol.170 , pp. 485-499
    • Mann, S.J.1
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215, 1988
    • (1988) Nucl Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 17
    • 0002720466 scopus 로고
    • The skin of hairless mice. I. The formation of cysts and the distribution of lipids
    • Montagna W, Chase HB, Melaragno HP: The skin of hairless mice. I. The formation of cysts and the distribution of lipids. J Invest Dermatol 19:83-94, 1952
    • (1952) J Invest Dermatol , vol.19 , pp. 83-94
    • Montagna, W.1    Chase, H.B.2    Melaragno, H.P.3
  • 18
    • 17344370417 scopus 로고    scopus 로고
    • A gene for universal congenital alopecia maps to chromosome 8p21-22
    • Nöthen MM, Cichon S, Vogt IR, et al: A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 62:386-390, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 386-390
    • Nöthen, M.M.1    Cichon, S.2    Vogt, I.R.3
  • 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: 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
    • (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
  • 20
    • 0025245371 scopus 로고
    • Effect of 5′ splice mutations on splicing of the preceding intron
    • Talerico M, Berget SM: Effect of 5′ splice mutations on splicing of the preceding intron. Mol Cell Biol 10:6299-6305, 1990
    • (1990) Mol Cell Biol , vol.10 , pp. 6299-6305
    • Talerico, M.1    Berget, S.M.2
  • 21
    • 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: Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum Genet 103:400-404, 1998
    • (1998) Hum Genet , vol.103 , pp. 400-404
    • Zlotogorski, A.1    Ahmad, W.2    Christiano, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.