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Volumn 15, Issue 5, 2005, Pages 344-346

Clinical and molecular abnormalities in lipoid proteinosis

Author keywords

Extracellular matrix protein 1 gene (ECM1); Genodermatosis; Hyalinosis cutis et mucosae; Urbach Wiethe disease

Indexed keywords

ETRETIN;

EID: 25144478901     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (21)

References (16)
  • 1
    • 0010471560 scopus 로고
    • Lipoidosis cutis et mucosae
    • Pathol Anat
    • Urbach E, Wieth C. Lipoidosis cutis et mucosae. Virchows Arch 1929; 273: 285-319; [Pathol Anat].
    • (1929) Virchows Arch , vol.273 , pp. 285-319
    • Urbach, E.1    Wieth, C.2
  • 2
    • 7344236851 scopus 로고
    • Lipoid proteinosis I: The clinical picture
    • Heyl T. Lipoid proteinosis I: the clinical picture. Br J Dermatol 1963; 75: 465-72.
    • (1963) Br J Dermatol , vol.75 , pp. 465-472
    • Heyl, T.1
  • 3
    • 0016415855 scopus 로고
    • Oral manifestations in Urbach-Wiethe disease
    • Hofer P, Bergenholtz A. Oral manifestations in Urbach-Wiethe disease. Odont Revy 1975; 26: 39-58.
    • (1975) Odont Revy , vol.26 , pp. 39-58
    • Hofer, P.1    Bergenholtz, A.2
  • 4
    • 0014052978 scopus 로고
    • Visceral involvement in lipoid proteinosis
    • Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967; 95: 149-55.
    • (1967) Arch Dermatol , vol.95 , pp. 149-155
    • Caplan, R.M.1
  • 5
    • 0031848717 scopus 로고    scopus 로고
    • Cutaneous deposition diseases. Part I
    • Touart DM, Sau P. Cutaneous deposition diseases. Part I. J Am Acad Dermatol 1998; 39: 149-71.
    • (1998) J Am Acad Dermatol , vol.39 , pp. 149-171
    • Touart, D.M.1    Sau, P.2
  • 6
    • 25144488438 scopus 로고    scopus 로고
    • Lipoid proteinosis
    • Rook A, Wilkinson DS, Ebling FJG, eds. Oxford: Blackwell Science Ltd
    • Black MM. Lipoid proteinosis. In: Rook A, Wilkinson DS, Ebling FJG, eds. Textbook of Dermatology. 6th ed. Oxford: Blackwell Science Ltd, 1998: 2640-1.
    • (1998) Textbook of Dermatology. 6th Ed. , pp. 2640-2641
    • Black, M.M.1
  • 7
    • 0015172991 scopus 로고
    • Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis): A clinical, ultrastructural, and chemical study
    • Newton FH, Rosenberg RN, Lampert PW, O'Brien JS. Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis): a clinical, ultrastructural, and chemical study. Neurology 1971; 21: 1205-13.
    • (1971) Neurology , vol.21 , pp. 1205-1213
    • Newton, F.H.1    Rosenberg, R.N.2    Lampert, P.W.3    O'Brien, J.S.4
  • 8
    • 0036454821 scopus 로고    scopus 로고
    • Lipoid proteinosis
    • Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002; 27: 624-9.
    • (2002) Clin Exp Dermatol , vol.27 , pp. 624-629
    • Hamada, T.1
  • 9
    • 18344392451 scopus 로고    scopus 로고
    • Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
    • Hamada T, Mclean WHI, Ramsay M, Ashton GHS, Nanda A, Jenkins T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002; 11: 833-40.
    • (2002) Hum Mol Genet , vol.11 , pp. 833-840
    • Hamada, T.1    Mclean, W.H.I.2    Ramsay, M.3    Ashton, G.H.S.4    Nanda, A.5    Jenkins, T.6
  • 10
    • 0037338135 scopus 로고    scopus 로고
    • Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation
    • Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 2003; 120: 345-50.
    • (2003) J Invest Dermatol , vol.120 , pp. 345-350
    • Hamada, T.1    Wessagowit, V.2    South, A.P.3    Ashton, G.H.4    Chan, I.5    Oyama, N.6
  • 13
    • 0842330520 scopus 로고    scopus 로고
    • The role of extracellular matrix 1 in human skin
    • Chan I. The role of extracellular matrix 1 in human skin. Clin Exp Dermatol 2004; 29: 52-6.
    • (2004) Clin Exp Dermatol , vol.29 , pp. 52-56
    • Chan, I.1
  • 14
    • 0038805170 scopus 로고    scopus 로고
    • Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis
    • Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown AM, Iozzo RV. Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. J Biol Chem 2003; 278: 17491-9.
    • (2003) J Biol Chem , vol.278 , pp. 17491-17499
    • Mongiat, M.1    Fu, J.2    Oldershaw, R.3    Greenhalgh, R.4    Gown, A.M.5    Iozzo, R.V.6
  • 15
    • 4544286204 scopus 로고    scopus 로고
    • Hyalinosis cutis et mucosae: A 30 year follow up of a female patient
    • Brajac I, Kastelan M, Gruber F, Peris Z. Hyalinosis cutis et mucosae: a 30 year follow up of a female patient. Eur J Dermatol 2004; 14: 310-3.
    • (2004) Eur J Dermatol , vol.14 , pp. 310-313
    • Brajac, I.1    Kastelan, M.2    Gruber, F.3    Peris, Z.4
  • 16
    • 3242789394 scopus 로고    scopus 로고
    • Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody
    • Chan I, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, et al. Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 2004; 35(2): 151-3.
    • (2004) J Dermatol Sci , vol.35 , Issue.2 , pp. 151-153
    • Chan, I.1    South, A.P.2    McGrath, J.A.3    Oyama, N.4    Bhogal, B.S.5    Black, M.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.