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Volumn 27, Issue 4, 2005, Pages 333-338

Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome

Author keywords

Desmosome; Epidermolysis bullosa; Hypotrichosis; Keratoderma; Plakophilin 1

Indexed keywords

GENE PRODUCT; PLAKOPHILIN 1; UNCLASSIFIED DRUG;

EID: 24144459583     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.dad.0000157451.46657.a6     Document Type: Article
Times cited : (23)

References (21)
  • 1
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    • McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997;17:240-244.
    • (1997) Nat Genet , vol.17 , pp. 240-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 2
    • 0032988426 scopus 로고    scopus 로고
    • Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
    • McGrath JA, Hoeger PH, Christiano AM, et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol. 1999;140:297-307.
    • (1999) Br J Dermatol , vol.140 , pp. 297-307
    • McGrath, J.A.1    Hoeger, P.H.2    Christiano, A.M.3
  • 3
    • 0033832770 scopus 로고    scopus 로고
    • Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
    • Whittock NV, Haftek M, Angoulvant N, et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol. 2000;115:368-374.
    • (2000) J Invest Dermatol , vol.115 , pp. 368-374
    • Whittock, N.V.1    Haftek, M.2    Angoulvant, N.3
  • 4
    • 0036548393 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
    • Hamada T, South AP, Mitsuhashi Y, et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol. 2002;11:107-114.
    • (2002) Exp Dermatol , vol.11 , pp. 107-114
    • Hamada, T.1    South, A.P.2    Mitsuhashi, Y.3
  • 5
    • 1842639453 scopus 로고    scopus 로고
    • Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
    • Sprecher E, Molho-Pessach V, Ingber A, et al. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol. 2004;122:647-651.
    • (2004) J Invest Dermatol , vol.122 , pp. 647-651
    • Sprecher, E.1    Molho-Pessach, V.2    Ingber, A.3
  • 6
    • 0041342100 scopus 로고    scopus 로고
    • Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1
    • McMillan JR, Haftek M, Akiyama M, et al. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol. 2003;123:96-103.
    • (2003) J Invest Dermatol , vol.123 , pp. 96-103
    • McMillan, J.R.1    Haftek, M.2    Akiyama, M.3
  • 9
    • 0029859589 scopus 로고    scopus 로고
    • Mucinous syringometaplasia. An immunohistochemical and ultrastructural study of a case
    • Bergman R, David R, Friedman-Birnbaum R, et al. Mucinous syringometaplasia. An immunohistochemical and ultrastructural study of a case. Am J Dermatopathol. 1996;18:521-526.
    • (1996) Am J Dermatopathol , vol.18 , pp. 521-526
    • Bergman, R.1    David, R.2    Friedman-Birnbaum, R.3
  • 10
    • 1642315423 scopus 로고    scopus 로고
    • Plakophilin 1: An important stabilizer of desmosomes
    • South AP. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol. 2004;29:161-167.
    • (2004) Clin Exp Dermatol , vol.29 , pp. 161-167
    • South, A.P.1
  • 11
    • 0030856140 scopus 로고    scopus 로고
    • Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
    • Schmidt A, Langbein L, Rode M, et al. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res. 1997;290:481-499.
    • (1997) Cell Tissue Res , vol.290 , pp. 481-499
    • Schmidt, A.1    Langbein, L.2    Rode, M.3
  • 12
    • 0035907041 scopus 로고    scopus 로고
    • Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin
    • Huelsken J, Vogel R, Erdmann B, et al. Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell. 2001;105: 533-545.
    • (2001) Cell , vol.105 , pp. 533-545
    • Huelsken, J.1    Vogel, R.2    Erdmann, B.3
  • 13
    • 0032567078 scopus 로고    scopus 로고
    • De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin
    • Gat U, DasGupta R, Degenstein I, Fuchs E. De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell. 1998;95:605-614.
    • (1998) Cell , vol.95 , pp. 605-614
    • Gat, U.1    Dasgupta, R.2    Degenstein, I.3    Fuchs, E.4
  • 14
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000; 355:2119-2124.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3
  • 15
    • 0041488736 scopus 로고    scopus 로고
    • Desmosomes exhibit site-specific features in human palm skin
    • Wan H, Dopping-Hepenstal PJC, Gratian MJ, et al. Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol. 2003;12:378-388.
    • (2003) Exp Dermatol , vol.12 , pp. 378-388
    • Wan, H.1    Dopping-Hepenstal, P.J.C.2    Gratian, M.J.3
  • 16
    • 1842733459 scopus 로고    scopus 로고
    • Working out the strength and flexibility of desmosomes
    • Getsios S, Huen AC, Green KJ. Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol. 2004;5:271-281.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 271-281
    • Getsios, S.1    Huen, A.C.2    Green, K.J.3
  • 17
    • 0036454873 scopus 로고    scopus 로고
    • Mechanisms of desmosome assembly and dissembly
    • Kitajima Y. Mechanisms of desmosome assembly and dissembly. Clin Exp Dermatol. 2002;27:684-690.
    • (2002) Clin Exp Dermatol , vol.27 , pp. 684-690
    • Kitajima, Y.1
  • 18
    • 2442691455 scopus 로고    scopus 로고
    • Histopathology of hypotrichosis with juvenile macular dystrophy
    • Bergman R, Sapir M, Sprecher E. Histopathology of hypotrichosis with juvenile macular dystrophy. Am J Dermatopathol. 2004;26:205-209.
    • (2004) Am J Dermatopathol , vol.26 , pp. 205-209
    • Bergman, R.1    Sapir, M.2    Sprecher, E.3
  • 19
    • 0034795548 scopus 로고    scopus 로고
    • Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3 encoding P-cadherin
    • Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3 encoding P-cadherin. Nat Genet. 2001;29:134-136.
    • (2001) Nat Genet , vol.29 , pp. 134-136
    • Sprecher, E.1    Bergman, R.2    Richard, G.3
  • 20
    • 0032819810 scopus 로고    scopus 로고
    • Cadherins and their connections: Adhesion junctions have broader functions
    • Steinberg MS, McNutt PM. Cadherins and their connections: adhesion junctions have broader functions. Curr Opin Cell Biol. 1999;11:554-560.
    • (1999) Curr Opin Cell Biol , vol.11 , pp. 554-560
    • Steinberg, M.S.1    McNutt, P.M.2
  • 21
    • 0020967496 scopus 로고
    • Vesicular, bullous and pustular disorders in infancy and childhood
    • Schachner L, Press S. Vesicular, bullous and pustular disorders in infancy and childhood. Pediatr Clin North Am. 1983;30:609-629.
    • (1983) Pediatr Clin North Am , vol.30 , pp. 609-629
    • Schachner, L.1    Press, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.