메뉴 건너뛰기




Volumn 50, Issue 4, 1999, Pages 257-265

Ehlers-Danlos-syndrome;Ehlers-Danlos-syndrom

Author keywords

Collagen; Connective tissue; Ehlers Danlos syndrome

Indexed keywords

COLLAGEN TYPE 3; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

EID: 0032899790     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001050050898     Document Type: Review
Times cited : (10)

References (39)
  • 1
    • 0029102248 scopus 로고
    • Diagnosis of Ehlers-Danlos syndrome type VI: Cross-link pattern in tissue und urine sample as a diagnostic marker
    • Açil Y, Vetter U, Brenner R, Müller PK, Brinckmann J (1995) Diagnosis of Ehlers-Danlos syndrome type VI: cross-link pattern in tissue und urine sample as a diagnostic marker. J Am Acad Dermatol 33:522-524
    • (1995) J Am Acad Dermatol , vol.33 , pp. 522-524
    • Açil, Y.1    Vetter, U.2    Brenner, R.3    Müller, P.K.4    Brinckmann, J.5
  • 2
    • 0018898910 scopus 로고
    • A new form of Ehlers-Danlos syndrome: Fibronectin corrects defective platelet function
    • Arneson MA, Hammerschmidt DE, Furch LT, King RA (1980) A new form of Ehlers-Danlos syndrome: fibronectin corrects defective platelet function. JAMA 244:144-147
    • (1980) JAMA , vol.244 , pp. 144-147
    • Arneson, M.A.1    Hammerschmidt, D.E.2    Furch, L.T.3    King, R.A.4
  • 3
    • 84965268370 scopus 로고    scopus 로고
    • X linkel recessive inherited in the Ehlers-Danlos syndrome
    • (168)
    • Beighton P (168) X linkel recessive inherited in the Ehlers-Danlos syndrome. Br Med J 111:409-411
    • Br Med J , vol.111 , pp. 409-411
    • Beighton, P.1
  • 5
    • 0018897589 scopus 로고
    • X-linked cutis laxa: Defective collagen cross-link formation due to decreased lysyl oxidase activity
    • Byer PH, Siegel RC, Holbrook KA, Narayanan P, Hall JG (1980) X-linked cutis laxa: defective collagen cross-link formation due to decreased lysyl oxidase activity. N Engl J Med 303:61-65
    • (1980) N Engl J Med , vol.303 , pp. 61-65
    • Byer, P.H.1    Siegel, R.C.2    Holbrook, K.A.3    Narayanan, P.4    Hall, J.G.5
  • 6
    • 0027943322 scopus 로고
    • Ehlers-Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeneity
    • Byers PH (1994) Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 103:47s-52s
    • (1994) J Invest Dermatol , vol.103
    • Byers, P.H.1
  • 7
    • 0029096404 scopus 로고
    • Ehlers-Danlos syndrome type IV: A genetic disorder in many guises
    • Byers PH (1995) Ehlers-Danlos syndrome type IV: a genetic disorder in many guises. J Invest Dermatol 105:311-313
    • (1995) J Invest Dermatol , vol.105 , pp. 311-313
    • Byers, P.H.1
  • 8
    • 0031018512 scopus 로고    scopus 로고
    • Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II
    • De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM (1997) Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet 60:547-554
    • (1997) Am J Hum Genet , vol.60 , pp. 547-554
    • De Paepe, A.1    Nuytinck, L.2    Hausser, I.3    Lamprecht, I.4    Naeyaert, J.M.5
  • 9
    • 0028073484 scopus 로고
    • Ehlers-Danlos syndrome type IV
    • De Paepe A (1994) Ehlers-Danlos syndrome type IV. Dermatology 189 [Suppl 2]:21-25
    • (1994) Dermatology , vol.189 , Issue.SUPPL. 2 , pp. 21-25
    • De Paepe, A.1
  • 10
    • 0024401129 scopus 로고
    • Low levels of serum type III procollagen aminoterminal propeptide confirmed type III collagen deficiency in patients without typical clinical symptoms of Ehlers-Danlos type IV
    • Dyne KM, Zanaboni G, Annoni G, de Agostini MP, Cetta G (1989) Low levels of serum type III procollagen aminoterminal propeptide confirmed type III collagen deficiency in patients without typical clinical symptoms of Ehlers-Danlos type IV. Eur J Clin Invest 19:362-366
    • (1989) Eur J Clin Invest , vol.19 , pp. 362-366
    • Dyne, K.M.1    Zanaboni, G.2    Annoni, G.3    De Agostini, M.P.4    Cetta, G.5
  • 11
    • 0018137214 scopus 로고
    • Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid reponse
    • Elsas LJ, Miller RL, Pinnel SR (1978) Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid reponse. J Pediatr 92:378-384
    • (1978) J Pediatr , vol.92 , pp. 378-384
    • Elsas, L.J.1    Miller, R.L.2    Pinnel, S.R.3
  • 12
    • 0022196153 scopus 로고
    • A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence fora deleted amino-telopeptide domain in the pro-α2(1) chain
    • Eyre DR, Shapiro FD, Aldridge JG (1985) A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence fora deleted amino-telopeptide domain in the pro-α2(1) chain. J Biol Chem 260:11322-11329
    • (1985) J Biol Chem , vol.260 , pp. 11322-11329
    • Eyre, D.R.1    Shapiro, F.D.2    Aldridge, J.G.3
  • 13
    • 0031021224 scopus 로고    scopus 로고
    • Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC
    • Fujimoto A, Wilcox WR, Cohn DH (1997) Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC. Am J Med Genet 68:25-28
    • (1997) Am J Med Genet , vol.68 , pp. 25-28
    • Fujimoto, A.1    Wilcox, W.R.2    Cohn, D.H.3
  • 14
    • 0028930442 scopus 로고
    • Fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis I, hereditary hemorrhagic teleangiectasia, and Ehlers-Danlos syndrome type II
    • Greenspan DS, Nothrup H, Au KS, Mc Allister KA, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ ( 1995) Fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis I, hereditary hemorrhagic teleangiectasia, and Ehlers-Danlos syndrome type II. Genomics 10:737-739
    • (1995) Genomics , vol.10 , pp. 737-739
    • Greenspan, D.S.1    Nothrup, H.2    Au, K.S.3    Mc Allister, K.A.4    Francomano, C.A.5    Wenstrup, R.J.6    Marchuk, D.A.7    Kwiatkowski, D.J.8
  • 15
    • 0028220223 scopus 로고
    • Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostic and classification
    • Hausser I, Anton-Lamprecht I (1994) Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostic and classification. Hum Genet 3:394-407
    • (1994) Hum Genet , vol.3 , pp. 394-407
    • Hausser, I.1    Anton-Lamprecht, I.2
  • 16
    • 0027535453 scopus 로고
    • A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings
    • Hautala T, Heikkinen J, Kivirikko KI, Myllylä R (1993) A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics: 15:399-404
    • (1993) Genomics , vol.15 , pp. 399-404
    • Hautala, T.1    Heikkinen, J.2    Kivirikko, K.I.3    Myllylä, R.4
  • 17
    • 0031026976 scopus 로고    scopus 로고
    • Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome
    • Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllyla R (1997) Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet 60:48-56
    • (1997) Am J Hum Genet , vol.60 , pp. 48-56
    • Heikkinen, J.1    Toppinen, T.2    Yeowell, H.3    Krieg, T.4    Steinmann, B.5    Kivirikko, K.I.6    Myllyla, R.7
  • 18
    • 0024418453 scopus 로고
    • Skin as a window on heritable disorders of connective tissue
    • Holbrook KA, Byers PH (1989) Skin as a window on heritable disorders of connective tissue. Am J Med Genet 88:105-121
    • (1989) Am J Med Genet , vol.88 , pp. 105-121
    • Holbrook, K.A.1    Byers, P.H.2
  • 19
    • 0001922158 scopus 로고
    • Biosynthesis of the collagens
    • Piez KA, Reddi AH (eds) Elsevier, NewYork
    • Kivirikko KI, MyllIylä R (1984) Biosynthesis of the collagens. In: Piez KA, Reddi AH (eds) Extracellular matrix biochemistry. Elsevier, NewYork, pp 1-39
    • (1984) Extracellular Matrix Biochemistry , pp. 1-39
    • Kivirikko, K.I.1    Mylliylä, R.2
  • 20
    • 0015407865 scopus 로고
    • Lysyl-protocollagenhydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen
    • Krane SM, Pinnell SR, Erbe RW (1972) Lysyl-protocollagenhydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proc Natl Acad Sci 69:2899-2903
    • (1972) Proc Natl Acad Sci , vol.69 , pp. 2899-2903
    • Krane, S.M.1    Pinnell, S.R.2    Erbe, R.W.3
  • 21
    • 0020078101 scopus 로고
    • Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder
    • Kuivaniemi H, Peltonen L, Palozi A, Kaitila I, Kivirkko KI (1982) Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J Clin Invest 69:730-733
    • (1982) J Clin Invest , vol.69 , pp. 730-733
    • Kuivaniemi, H.1    Peltonen, L.2    Palozi, A.3    Kaitila, I.4    Kivirkko, K.I.5
  • 23
    • 0029114146 scopus 로고
    • Linkage of the gene that encodes for the α1-chain of type V collagen (COL5A1) to type Il Ehlers-Danlos syndrome (EDS II)
    • Loughlin J, Irven C, Harwick LJ, Butcher S, Walsh S, Wordsworth P, Sykes B (1995) Linkage of the gene that encodes for the α1-chain of type V collagen (COL5A1) to type Il Ehlers-Danlos syndrome (EDS II). Hum Mol Genet 4:1649-1651
    • (1995) Hum Mol Genet , vol.4 , pp. 1649-1651
    • Loughlin, J.1    Irven, C.2    Harwick, L.J.3    Butcher, S.4    Walsh, S.5    Wordsworth, P.6    Sykes, B.7
  • 26
    • 0029902127 scopus 로고    scopus 로고
    • Col3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
    • Pope FM, Narcisi P, Nocholls AC, Germaine D, Pals G, Richards AJ (1996) Col3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 135:163-181
    • (1996) Br J Dermatol , vol.135 , pp. 163-181
    • Pope, F.M.1    Narcisi, P.2    Nocholls, A.C.3    Germaine, D.4    Pals, G.5    Richards, A.J.6
  • 27
    • 0026643352 scopus 로고
    • Enzymatic and nonenzymatic cross-linking of collagen and elastin
    • Reiser K, McCormick RJ, Rucker RB (1992) Enzymatic and nonenzymatic cross-linking of collagen and elastin. FASEB J 6:2439-2449
    • (1992) FASEB J , vol.6 , pp. 2439-2449
    • Reiser, K.1    McCormick, R.J.2    Rucker, R.B.3
  • 28
    • 0025892077 scopus 로고
    • Evaluation of urinary hydroxypyridinium cross-link measurements as resorption markers in metabolic bone diseases
    • Robins SP, Black D, Paterson CR, Reid DM, Duncan A, Seibl MJ (1991) Evaluation of urinary hydroxypyridinium cross-link measurements as resorption markers in metabolic bone diseases. Eur J Clin Invest 21:310-315
    • (1991) Eur J Clin Invest , vol.21 , pp. 310-315
    • Robins, S.P.1    Black, D.2    Paterson, C.R.3    Reid, D.M.4    Duncan, A.5    Seibl, M.J.6
  • 29
    • 0018393385 scopus 로고
    • Cross-linking of collagen in the X-linked Ehlers-Danlos syndrome type V
    • Siegel RC, Black CM, Bailey AJ (1979) Cross-linking of collagen in the X-linked Ehlers-Danlos syndrome type V. Biochem Biophys Res Commun 88:281-287
    • (1979) Biochem Biophys Res Commun , vol.88 , pp. 281-287
    • Siegel, R.C.1    Black, C.M.2    Bailey, A.J.3
  • 31
    • 0026410280 scopus 로고
    • Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type i in one large family
    • Sokolov BP, Prytkov AN, Tromp G, Knowlton RG, Prockop DJ (1991) Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Hum Genet 88:125-129
    • (1991) Hum Genet , vol.88 , pp. 125-129
    • Sokolov, B.P.1    Prytkov, A.N.2    Tromp, G.3    Knowlton, R.G.4    Prockop, D.J.5
  • 32
    • 0016773654 scopus 로고
    • Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficient skin
    • Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CHJ (1975) Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficient skin. Helv Paediatr Acta 30:255-274
    • (1975) Helv Paediatr Acta , vol.30 , pp. 255-274
    • Steinmann, B.1    Gitzelmann, R.2    Vogel, A.3    Grant, M.E.4    Harwood, R.5    Sear, C.H.J.6
  • 33
    • 0019122764 scopus 로고
    • Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII
    • Steinmann B, Judermann L, Peltonen L, Martin GR, McKusick VA, Prockop DJ (1980) Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem 255:8887-8893
    • (1980) J Biol Chem , vol.255 , pp. 8887-8893
    • Steinmann, B.1    Judermann, L.2    Peltonen, L.3    Martin, G.R.4    McKusick, V.A.5    Prockop, D.J.6
  • 34
    • 0024452679 scopus 로고
    • Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen
    • Steinmann B, Superti-Furga A, Joller-Jemelka H, Cetta G, Byers PH (1989) Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. Am J Med Genet 34:68-71
    • (1989) Am J Med Genet , vol.34 , pp. 68-71
    • Steinmann, B.1    Superti-Furga, A.2    Joller-Jemelka, H.3    Cetta, G.4    Byers, P.H.5
  • 36
    • 0023511450 scopus 로고
    • Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a proα2(1) chain
    • Wirtz MK, Glanville RW, Steinmann B, Rao VH, Hollister DW (1987) Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a proα2(1) chain. J Biol Chem 262:16376-16385
    • (1987) J Biol Chem , vol.262 , pp. 16376-16385
    • Wirtz, M.K.1    Glanville, R.W.2    Steinmann, B.3    Rao, V.H.4    Hollister, D.W.5
  • 39
    • 0029118456 scopus 로고
    • The mRNA and the activity of lysyl hydroxylase are upregulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type Vi
    • Yeowell HN, Walker LC, Marshall MK, Murad S, Pinnell SR (1995) The mRNA and the activity of lysyl hydroxylase are upregulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type Vi. Arch Biochem Biophys 321:510-516
    • (1995) Arch Biochem Biophys , vol.321 , pp. 510-516
    • Yeowell, H.N.1    Walker, L.C.2    Marshall, M.K.3    Murad, S.4    Pinnell, S.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.