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Journal of Investigative Dermatology
Volumn 122, Issue 4, 2004, Pages
Ehlers-danlos syndrome - Molecular genetics beyond the collagens
Author keywords

[No Author keywords available]
Indexed keywords

COLLAGEN FIBRIL; ELASTIN; TENASCIN;
EID: 2342470816     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.22435.x     Document Type: Note
Times cited : (6)
References (8)
  • 1
    • 0032574641 scopus 로고    scopus 로고
    • Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
    • Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
    • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ: Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31-37, 1998
    • (1998) Am J Med Genet , vol.77 , pp. 31-37
    • Beighton, P.1    De Paepe, A.2    Steinmann, B.3    Tsipouras, P.4    Wenstrup, R.J.5
  • 2
    • 0030843025 scopus 로고    scopus 로고
    • Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
    • Burch GH, Gong Y, Liu W, et al: Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nature Genet 17:104-108, 1997
    • (1997) Nature Genet , vol.17 , pp. 104-108
    • Burch, G.H.1    Gong, Y.2    Liu, W.3
  • 3
    • 0036544872 scopus 로고    scopus 로고
    • Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition
    • Mao JR, Taylor G, Dean WB, et al: Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nature Genet 30:421-425, 2002
    • (2002) Nature Genet , vol.30 , pp. 421-425
    • Mao, J.R.1    Taylor, G.2    Dean, W.B.3
  • 5
    • 0347418197 scopus 로고    scopus 로고
    • Collagens, modifying enzymes and their mutations in humans, flies and worms
    • Myllyharju J, Kivirikko KI: Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 20:33-43, 2004
    • (2004) Trends Genet , vol.20 , pp. 33-43
    • Myllyharju, J.1    Kivirikko, K.I.2
  • 6
    • 0035909658 scopus 로고    scopus 로고
    • A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
    • Schalkwijk J, Zweers MC, Steijlen PM, et al: A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345:1167-1175, 2001
    • (2001) N Engl J Med , vol.345 , pp. 1167-1175
    • Schalkwijk, J.1    Zweers, M.C.2    Steijlen, P.M.3
  • 7
    • 1642522704 scopus 로고    scopus 로고
    • Heritable Disorders of Connective Tissue - Ehlers-Danlos Syndrome, Pseudoxanthoma Elasticum and Cutis Laxa
    • Bolognia JL, Jorizzo JL, Rapini RP (eds). Harcourt Publishers, London
    • Uitto J, Ringpfeil F, Pulkkinen L: Heritable Disorders of Connective Tissue - Ehlers-Danlos Syndrome, Pseudoxanthoma Elasticum and Cutis Laxa. In: Bolognia JL, Jorizzo JL, Rapini RP (eds). Dermatology. Harcourt Publishers, London; p 1519-1530, 2003
    • (2003) Dermatology , pp. 1519-1530
    • Uitto, J.1    Ringpfeil, F.2    Pulkkinen, L.3
  • 8
    • 2342459156 scopus 로고    scopus 로고
    • Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology
    • Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, et al: Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol 122:885-691, 2004
    • (2004) J Invest Dermatol , vol.122 , pp. 885-1691
    • Zweers, M.C.1    Van Vlijmen-Willems, I.M.2    Van Kuppevelt, T.H.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.