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Volumn , Issue , 2005, Pages 511-518

Pathogenesis of desquamation and permeability barrier abnormalities in RXLI

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EID: 35349009452     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (3)

References (47)
  • 2
    • 84919585371 scopus 로고
    • X-linked ichthyosis due to steroid-sulphatase deficiency
    • Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978; 1:70-72.
    • (1978) Lancet , vol.1 , pp. 70-72
    • Webster, D.1    France, J.T.2    Shapiro, L.J.3    Weiss, R.4
  • 3
    • 0017759384 scopus 로고
    • Nullisomy for the distal portion of Xp in a male child with a X/Y translocation
    • Tiepolo L, Zuffardi O, Rodewald A. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum Genet 1977; 39:277-281.
    • (1977) Hum Genet , vol.39 , pp. 277-281
    • Tiepolo, L.1    Zuffardi, O.2    Rodewald, A.3
  • 4
    • 0018627992 scopus 로고
    • Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome
    • Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci USA 1979; 76:5779-5783.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 5779-5783
    • Mohandas, T.1    Shapiro, L.J.2    Sparkes, R.S.3    Sparkes, M.C.4
  • 5
    • 0025305061 scopus 로고
    • A long-range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus
    • Li XM, Yen P, Mohandas T, Shapiro LJ. A long-range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus. Nucleic Acids Res 1990; 18:2783-2788.
    • (1990) Nucleic Acids Res , vol.18 , pp. 2783-2788
    • Li, X.M.1    Yen, P.2    Mohandas, T.3    Shapiro, L.J.4
  • 6
    • 0021903338 scopus 로고
    • Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome
    • Shapiro LJ. Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet 1985; 14:331-388.
    • (1985) Adv Hum Genet , vol.14 , pp. 331-388
    • Shapiro, L.J.1
  • 8
    • 0023473993 scopus 로고
    • Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis
    • Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987; 84:9248-9251.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 9248-9251
    • Bonifas, J.M.1    Morley, B.J.2    Oakey, R.E.3    Kan, Y.W.4    Epstein, E.H.5
  • 12
    • 0022916035 scopus 로고
    • Contiguous gene syndromes: A component of recognizable syndromes
    • Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986; 109:231-241.
    • (1986) J Pediatr , vol.109 , pp. 231-241
    • Schmickel, R.D.1
  • 13
    • 0024468929 scopus 로고
    • An Xp22 microdeletion associated with ocular albinism and ichthyosis: Approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
    • Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet 1989; 45:706-720.
    • (1989) Am J Hum Genet , vol.45 , pp. 706-720
    • Schnur, R.E.1    Trask, B.J.2    van den Engh, G.3    Punnett, H.H.4    Kistenmacher, M.5    Tomeo, M.A.6    Naids, R.E.7    Nussbaum, R.L.8
  • 15
    • 0024166584 scopus 로고
    • Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency
    • Bergner EA, Shapiro LJ. Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency. J Inherit Metab Dis 1988; 11:403-415.
    • (1988) J Inherit Metab Dis , vol.11 , pp. 403-415
    • Bergner, E.A.1    Shapiro, L.J.2
  • 16
    • 0019783953 scopus 로고
    • X-linked ichthyosis: Increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein
    • Epstein EH Jr, Krauss RM, Shackleton CH. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 1981; 214:659-660.
    • (1981) Science , vol.214 , pp. 659-660
    • Epstein, E.H.1    Krauss, R.M.2    Shackleton, C.H.3
  • 17
    • 0021601238 scopus 로고
    • Topical cholesterol treatment of recessive X-linked ichthyosis
    • Ibsen HH, Brandrup F, Secher B. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet 1984; 2:645.
    • (1984) Lancet , vol.2 , pp. 645
    • Ibsen, H.H.1    Brandrup, F.2    Secher, B.3
  • 18
    • 0019823367 scopus 로고
    • Stratum corneum lipids in disorders of cornification: Increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis
    • Williams ML, Elias PM. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest 1981; 68:1404-1410.
    • (1981) J Clin Invest , vol.68 , pp. 1404-1410
    • Williams, M.L.1    Elias, P.M.2
  • 19
    • 0021678861 scopus 로고
    • Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis
    • Elias PM, Williams ML, Maloney ME, Bonifas JA, Brown BE, Grayson S, Epstein EH Jr. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J Clin Invest 1984; 74:1414-1421.
    • (1984) J Clin Invest , vol.74 , pp. 1414-1421
    • Elias, P.M.1    Williams, M.L.2    Maloney, M.E.3    Bonifas, J.A.4    Brown, B.E.5    Grayson, S.6    Epstein, E.H.7
  • 21
    • 0018414010 scopus 로고
    • Steroid-sulfatase deficiency in sex-linked ichthyosis
    • Kubilus J, Tarascio AJ, Baden HP. Steroid-sulfatase deficiency in sex-linked ichthyosis. Am J Hum Genet 1979; 31:50-53.
    • (1979) Am J Hum Genet , vol.31 , pp. 50-53
    • Kubilus, J.1    Tarascio, A.J.2    Baden, H.P.3
  • 24
  • 26
    • 0023900795 scopus 로고
    • Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor
    • Willemsen R, Kroos M, Hoogeveen AT, van Dongen JM, Parenti G, van der Loos CM, Reuser AJ. Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor. Histochem J 1988; 20:41-51.
    • (1988) Histochem J , vol.20 , pp. 41-51
    • Willemsen, R.1    Kroos, M.2    Hoogeveen, A.T.3    van Dongen, J.M.4    Parenti, G.5    van der Loos, C.M.6    Reuser, A.J.7
  • 27
    • 0024435928 scopus 로고
    • Human placental sterylsulfatase: Immunocytochemical and biochemical localization
    • Dibbelt L, Herzog V, Kuss E. Human placental sterylsulfatase: immunocytochemical and biochemical localization. Biol Chem Hoppe Seyler 1989; 370:1093-1102.
    • (1989) Biol Chem Hoppe Seyler , vol.370 , pp. 1093-1102
    • Dibbelt, L.1    Herzog, V.2    Kuss, E.3
  • 28
    • 0026265525 scopus 로고
    • Structural and lipid biochemical correlates of the epidermal permeability barrier
    • Elias PM, Menon GK. Structural and lipid biochemical correlates of the epidermal permeability barrier. Adv Lipid Res 1991; 24:1-26.
    • (1991) Adv Lipid Res , vol.24 , pp. 1-26
    • Elias, P.M.1    Menon, G.K.2
  • 29
    • 0022869082 scopus 로고
    • Cholesterol sulfate uptake and outflux in cultured human keratinocytes
    • Ponec M, Williams ML. Cholesterol sulfate uptake and outflux in cultured human keratinocytes. Arch Dermatol Res 1986; 279:32-36.
    • (1986) Arch Dermatol Res , vol.279 , pp. 32-36
    • Ponec, M.1    Williams, M.L.2
  • 31
    • 0032448266 scopus 로고    scopus 로고
    • Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes
    • Kawabe S, Ikuta T, Ohba M, Chida K, Ueda E, Yamanishi K, Kuroki T. Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes. J Invest Dermatol 1998; 111:1098-1102.
    • (1998) J Invest Dermatol , vol.111 , pp. 1098-1102
    • Kawabe, S.1    Ikuta, T.2    Ohba, M.3    Chida, K.4    Ueda, E.5    Yamanishi, K.6    Kuroki, T.7
  • 33
    • 0027368424 scopus 로고
    • Barrier function parameters in various keratinization disorders: Transepidermal water loss and vascular response to hexyl nicotinate
    • Lavrijsen AP, Oestmann E, Hermans J, Bodde HE, Vermeer BJ, Ponec M. Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate. Br J Dermatol 1993; 129:547-553.
    • (1993) Br J Dermatol , vol.129 , pp. 547-553
    • Lavrijsen, A.P.1    Oestmann, E.2    Hermans, J.3    Bodde, H.E.4    Vermeer, B.J.5    Ponec, M.6
  • 35
  • 36
    • 0022618709 scopus 로고
    • Interactions of cholesterol and cholesterol sulfate with free fatty acids: Possible relevance for the pathogenesis of recessive X-linked ichthyosis
    • Rehfeld SJ, Williams ML, Elias PM. Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis. Arch Dermatol Res 1986; 278:259-263.
    • (1986) Arch Dermatol Res , vol.278 , pp. 259-263
    • Rehfeld, S.J.1    Williams, M.L.2    Elias, P.M.3
  • 37
    • 0029039602 scopus 로고
    • Exogenous non-physiologic vs. physiologic lipids. Divergent mechanisms for correction of permeability barrier dysfunction
    • Mao-Qiang M, Brown BE, Wu-Pong S, Feingold KR, Elias PM. Exogenous non-physiologic vs. physiologic lipids. Divergent mechanisms for correction of permeability barrier dysfunction. Arch Dermatol 1995; 131:809-816.
    • (1995) Arch Dermatol , vol.131 , pp. 809-816
    • Mao-Qiang, M.1    Brown, B.E.2    Wu-Pong, S.3    Feingold, K.R.4    Elias, P.M.5
  • 38
    • 0023205873 scopus 로고
    • Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts
    • Williams ML, Rutherford SL, Feingold KR. Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts. J Lipid Res 1987; 28:955-967.
    • (1987) J Lipid Res , vol.28 , pp. 955-967
    • Williams, M.L.1    Rutherford, S.L.2    Feingold, K.R.3
  • 39
    • 0039004404 scopus 로고    scopus 로고
    • Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine
    • Nemes Z, Demeny M, Marekov LN, Fesus L, Steinert PM. Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J Biol Chem 2000; 275: 2636-2646.
    • (2000) J Biol Chem , vol.275 , pp. 2636-2646
    • Nemes, Z.1    Demeny, M.2    Marekov, L.N.3    Fesus, L.4    Steinert, P.M.5
  • 41
    • 0026264986 scopus 로고
    • Lipids in normal and pathological desquamation
    • Williams ML. Lipids in normal and pathological desquamation. Adv Lipid Res 1991; 24:211-262.
    • (1991) Adv Lipid Res , vol.24 , pp. 211-262
    • Williams, M.L.1
  • 42
    • 0013940220 scopus 로고
    • Ichthyosiform dermatoses. Classification based on anatomic and biometric observations
    • Frost P, Van Scott EJ. Ichthyosiform dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol 1966; 94:113-126.
    • (1966) Arch Dermatol , vol.94 , pp. 113-126
    • Frost, P.1    Van Scott, E.J.2
  • 43
    • 0034128648 scopus 로고    scopus 로고
    • Stratum corneum tryptic enzyme in normal epidermis: A missing link in the desquamation process
    • Ekholm IE, Brattsand M, Egelrud T. Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process? J Invest Dermatol 2000; 114:56-63.
    • (2000) J Invest Dermatol , vol.114 , pp. 56-63
    • Ekholm, I.E.1    Brattsand, M.2    Egelrud, T.3
  • 44
    • 0031687460 scopus 로고    scopus 로고
    • The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: A clue to the molecular origin of the "acid skin mantle?"
    • Ohman H, Vahlquist A. The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle?" J Invest Dermatol 1998; 111:674-677.
    • (1998) J Invest Dermatol , vol.111 , pp. 674-677
    • Ohman, H.1    Vahlquist, A.2
  • 45
    • 0031879094 scopus 로고    scopus 로고
    • Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum
    • Sato J, Denda M, Nakanishi J, Nomura J, Koyama J. Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J Invest Dermatol 1998; 111:189-193.
    • (1998) J Invest Dermatol , vol.111 , pp. 189-193
    • Sato, J.1    Denda, M.2    Nakanishi, J.3    Nomura, J.4    Koyama, J.5
  • 46
    • 0023103442 scopus 로고
    • Stratum corneum lipid liposomes: Calcium-induced transformation into lamellar sheets
    • Abraham W, Wertz PW, Landmann L, Downing DT. Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets. J Invest Dermatol 1987; 88: 212-214.
    • (1987) J Invest Dermatol , vol.88 , pp. 212-214
    • Abraham, W.1    Wertz, P.W.2    Landmann, L.3    Downing, D.T.4
  • 47
    • 0036915960 scopus 로고    scopus 로고
    • Origin of the epidermal calcium gradient: Regulation by barrier status and role of active vs. passive mechanisms
    • Elias P, Ahn S, Brown B, Crumrine D, Feingold KR. Origin of the epidermal calcium gradient: regulation by barrier status and role of active vs. passive mechanisms. J Invest Dermatol 2002; 119:1269-1274.
    • (2002) J Invest Dermatol , vol.119 , pp. 1269-1274
    • Elias, P.1    Ahn, S.2    Brown, B.3    Crumrine, D.4    Feingold, K.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.