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Volumn 30, Issue 2, 2005, Pages 176-179

Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: Ultrastructural study and mutation analysis in a Taiwanese infant

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; COLLAGEN TYPE 4; LAMININ;

EID: 15044346413     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01698.x     Document Type: Article
Times cited : (19)

References (10)
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    • Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol 1986; 6: 55-79.
    • (1986) Pediatr Pathol , vol.6 , pp. 55-79
    • Landing, B.H.1    Nadorra, R.2
  • 2
    • 0025976528 scopus 로고
    • Infantile systemic hyalinosis: Newly recognized disorder of collagen?
    • Glover MT, Lake BD, Atherton DJ. Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics 1991; 87: 228-34.
    • (1991) Pediatrics , vol.87 , pp. 228-234
    • Glover, M.T.1    Lake, B.D.2    Atherton, D.J.3
  • 3
    • 0035932774 scopus 로고    scopus 로고
    • Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature
    • Stucki U, Spycher MA, Eich G et al. Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet 2001; 100: 122-9.
    • (2001) Am J Med Genet , vol.100 , pp. 122-129
    • Stucki, U.1    Spycher, M.A.2    Eich, G.3
  • 4
    • 0028281694 scopus 로고
    • Infantile systemic hyalinosis in a black infant
    • Sahn EE, Salinas CF, Sens MA et al. Infantile systemic hyalinosis in a black infant. Pediatr Dermatol 1994; 11: 52-60.
    • (1994) Pediatr Dermatol , vol.11 , pp. 52-60
    • Sahn, E.E.1    Salinas, C.F.2    Sens, M.A.3
  • 5
    • 0026775226 scopus 로고
    • Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis
    • Glover MT, Lake BD, Atherton DJ. Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 1992; 9: 255-8.
    • (1992) Pediatr Dermatol , vol.9 , pp. 255-258
    • Glover, M.T.1    Lake, B.D.2    Atherton, D.J.3
  • 6
    • 0142122899 scopus 로고    scopus 로고
    • Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
    • Dowling O, Difeo A, Ramirez MC et al. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73: 957-66.
    • (2003) Am J Hum Genet , vol.73 , pp. 957-966
    • Dowling, O.1    Difeo, A.2    Ramirez, M.C.3
  • 7
    • 0142091197 scopus 로고    scopus 로고
    • Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
    • Hanks S, Adams S, Douglas J et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003; 73: 791-800.
    • (2003) Am J Hum Genet , vol.73 , pp. 791-800
    • Hanks, S.1    Adams, S.2    Douglas, J.3
  • 8
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    • Differential gene expression during capillary morphogenesis in 3D collagen matrices: Regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling
    • Bell SE, Mavila A, Salazar R et al. Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. J Cell Sci 2001; 114: 2755-73.
    • (2001) J Cell Sci , vol.114 , pp. 2755-2773
    • Bell, S.E.1    Mavila, A.2    Salazar, R.3
  • 10
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    • Effect of integrin on procollagen synthesis by fibroblasts from scleroderma
    • Hong W, Chen M, Kong X, Liao W. Effect of integrin on procollagen synthesis by fibroblasts from scleroderma. Chin Med J (Engl) 1999; 112: 1024-7.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.