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Volumn 39, Issue , 2010, Pages 30-88

Inherited clinical disorders of lipid metabolism

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHOLESTEROL SULFATE; FATTY ACID; SPHINGOLIPID;

EID: 77957736350     PISSN: 14215721     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000321084     Document Type: Review
Times cited : (14)

References (261)
  • 2
    • 0021922906 scopus 로고
    • Heterogeneity in autosomal recessive ichthyosis: Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma
    • Williams ML, Elias PM: Heterogeneity in autosomal recessive ichthyosis: Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 1985;121:477-488.
    • (1985) Arch Dermatol , vol.121 , pp. 477-488
    • Williams, M.L.1    Elias, P.M.2
  • 3
    • 0023715926 scopus 로고
    • Ichthyosis congenita type III: Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group
    • Arnold ML, Anton-Lamprecht I, Melz-Rothfuss B, Hartschuh W: Ichthyosis congenita type III: Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group. Arch Dermatol Res 1988;280:268-278.
    • (1988) Arch Dermatol Res , vol.280 , pp. 268-278
    • Arnold, M.L.1    Anton-Lamprecht, I.2    Melz-Rothfuss, B.3    Hartschuh, W.4
  • 4
    • 0026683842 scopus 로고
    • Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses
    • Ghadially R, Williams ML, Hou SY, Elias PM: Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 1992;99:755-763.
    • (1992) J Invest Dermatol , vol.99 , pp. 755-763
    • Ghadially, R.1    Williams, M.L.2    Hou, S.Y.3    Elias, P.M.4
  • 5
    • 67349228543 scopus 로고    scopus 로고
    • Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B
    • Eckl KM, de Juanes S, Kurtenbach J, et al: Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol 2009;129:1421-1428.
    • (2009) J Invest Dermatol , vol.129 , pp. 1421-1428
    • Eckl, K.M.1    De Juanes, S.2    Kurtenbach, J.3
  • 6
    • 0028817683 scopus 로고
    • Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
    • Russell LJ, Di Giovanna JJ, Rogers GR, et al: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995;9:279-283.
    • (1995) Nat Genet , vol.9 , pp. 279-283
    • Russell, L.J.1    Di Giovanna, J.J.2    Rogers, G.R.3
  • 7
    • 0028947560 scopus 로고
    • Mutations of keratinocyte transglutaminase in lamellar ichthyosis
    • Huber M, Rettler I, Bernasconi K, et al: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995;267:525-528.
    • (1995) Science , vol.267 , pp. 525-528
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3
  • 8
    • 0031971450 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
    • Hennies HC, Kuster W, Wiebe V, Krebsova A, Reis A: Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998;62:1052-1061.
    • (1998) Am J Hum Genet , vol.62 , pp. 1052-1061
    • Hennies, H.C.1    Kuster, W.2    Wiebe, V.3    Krebsova, A.4    Reis, A.5
  • 9
    • 18244388249 scopus 로고    scopus 로고
    • Lipoxygenase-3 (ALOXE3) and 12R-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
    • Jobard F, Lefevre C, Karaduman A, et al: Lipoxygenase-3 (ALOXE3) and 12R-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002;11:107-113.
    • (2002) Hum Mol Genet , vol.11 , pp. 107-113
    • Jobard, F.1    Lefevre, C.2    Karaduman, A.3
  • 10
    • 0038115548 scopus 로고    scopus 로고
    • The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
    • Akiyama M, Sawamura D, Shimizu H: The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 2003;28:235-240.
    • (2003) Clin Exp Dermatol , vol.28 , pp. 235-240
    • Akiyama, M.1    Sawamura, D.2    Shimizu, H.3
  • 12
    • 25444467735 scopus 로고    scopus 로고
    • Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis
    • Eckl KM, Krieg P, Kuster W, et al: Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 2005;26:351-361.
    • (2005) Hum Mutat , vol.26 , pp. 351-361
    • Eckl, K.M.1    Krieg, P.2    Kuster, W.3
  • 13
    • 0033941022 scopus 로고    scopus 로고
    • Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
    • Fischer J, Faure A, Bouadjar B, et al: Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet 2000;66: 904-913.
    • (2000) Am J Hum Genet , vol.66 , pp. 904-913
    • Fischer, J.1    Faure, A.2    Bouadjar, B.3
  • 14
  • 15
    • 0028033095 scopus 로고
    • Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis
    • Anton-Lamprecht I: Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol 1994;103:6S- 12S.
    • (1994) J Invest Dermatol , vol.103
    • Anton-Lamprecht, I.1
  • 16
    • 0026677275 scopus 로고
    • Ichthyosis: Mechanisms of disease
    • Williams ML: Ichthyosis: Mechanisms of disease. Pediatr Dermatol 1992;9:365-368.
    • (1992) Pediatr Dermatol , vol.9 , pp. 365-368
    • Williams, M.L.1
  • 17
    • 0026749115 scopus 로고
    • Epidermal lipids and scaling diseases of the skin
    • Williams ML: Epidermal lipids and scaling diseases of the skin. Semin Dermatol 1992;11:169-175.
    • (1992) Semin Dermatol , vol.11 , pp. 169-175
    • Williams, M.L.1
  • 18
    • 66149155333 scopus 로고    scopus 로고
    • Autosomal recessive congenital ichthyosis
    • Fischer J: Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009;129:1319-1321.
    • (2009) J Invest Dermatol , vol.129 , pp. 1319-1321
    • Fischer, J.1
  • 19
    • 44949151890 scopus 로고    scopus 로고
    • Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism
    • Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M: Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism. J Lipid Res 2008;49:697-714.
    • (2008) J Lipid Res , vol.49 , pp. 697-714
    • Elias, P.M.1    Williams, M.L.2    Holleran, W.M.3    Jiang, Y.J.4    Schmuth, M.5
  • 20
    • 10744220980 scopus 로고    scopus 로고
    • Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
    • Lefevre C, Audebert S, Jobard F, et al: Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003;12:2369-2378.
    • (2003) Hum Mol Genet , vol.12 , pp. 2369-2378
    • Lefevre, C.1    Audebert, S.2    Jobard, F.3
  • 21
    • 75549090184 scopus 로고    scopus 로고
    • Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients
    • Vahlquist A, Bygum A, Ganemo A, et al: Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 2010;130:438-443.
    • (2010) J Invest Dermatol , vol.130 , pp. 438-443
    • Vahlquist, A.1    Bygum, A.2    Ganemo, A.3
  • 22
    • 62149121322 scopus 로고    scopus 로고
    • Novel transglutaminase- 1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
    • Farasat S, Wei MH, Herman M, et al: Novel transglutaminase- 1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 2009;46:103-111.
    • (2009) J Med Genet , vol.46 , pp. 103-111
    • Farasat, S.1    Wei, M.H.2    Herman, M.3
  • 23
    • 41149096095 scopus 로고    scopus 로고
    • Selfhealing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene
    • Harting M, Brunetti-Pierri N, Chan CS, et al: Selfhealing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol 2008;144:351-356.
    • (2008) Arch Dermatol , vol.144 , pp. 351-356
    • Harting, M.1    Brunetti-Pierri, N.2    Chan, C.S.3
  • 24
    • 84925734100 scopus 로고    scopus 로고
    • Ichthyoses and related mendelian disorders of cornification (MEDOC)
    • in Irvine A, Hoger P, Yan A (eds): In press
    • Hohl D, Williams ML: Ichthyoses and related mendelian disorders of cornification (MEDOC); in Irvine A, Hoger P, Yan A (eds): Textbook of Pediatric Dermatology. In press.
    • Textbook of Pediatric Dermatology
    • Hohl, D.1    Williams, M.L.2
  • 25
    • 68249128695 scopus 로고    scopus 로고
    • Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
    • Klar J, Schweiger M, Zimmerman R, et al: Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009;85:248-253.
    • (2009) Am J Hum Genet , vol.85 , pp. 248-253
    • Klar, J.1    Schweiger, M.2    Zimmerman, R.3
  • 26
    • 70349728586 scopus 로고    scopus 로고
    • ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma
    • Sakai K, Akiyama M, Yanagi T, et al: ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J Invest Dermatol 2009;129:2306-2309.
    • (2009) J Invest Dermatol , vol.129 , pp. 2306-2309
    • Sakai, K.1    Akiyama, M.2    Yanagi, T.3
  • 27
    • 0010999037 scopus 로고
    • Sur une forme attenuee de la maladie dite ichtyose foetale
    • Hallopeau H, Watelet R: Sur une forme attenuee de la maladie dite ichtyose foetale. Ann Dermatol Syphilol 1884;3:149-152.
    • (1884) Ann Dermatol Syphilol , vol.3 , pp. 149-152
    • Hallopeau, H.1    Watelet, R.2
  • 29
    • 0024261531 scopus 로고
    • Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma
    • Lawlor F: Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. Pediatrics 1988;82:870-873.
    • (1988) Pediatrics , vol.82 , pp. 870-873
    • Lawlor, F.1
  • 30
    • 19544366925 scopus 로고    scopus 로고
    • Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
    • Lefevre C, Bouadjar B, Karaduman A, et al: Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004;13:2473-2482.
    • (2004) Hum Mol Genet , vol.13 , pp. 2473-2482
    • Lefevre, C.1    Bouadjar, B.2    Karaduman, A.3
  • 31
    • 33947260711 scopus 로고    scopus 로고
    • Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13
    • Lesueur F, Bouadjar B, Lefevre C, et al: Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol 2007;127:829-834.
    • (2007) J Invest Dermatol , vol.127 , pp. 829-834
    • Lesueur, F.1    Bouadjar, B.2    Lefevre, C.3
  • 32
    • 35348850047 scopus 로고    scopus 로고
    • Congenital ichthyosis: Mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
    • Dahlqvist J, Klar J, Hausser I, et al: Congenital ichthyosis: Mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 2007;44:615-620.
    • (2007) J Med Genet , vol.44 , pp. 615-620
    • Dahlqvist, J.1    Klar, J.2    Hausser, I.3
  • 33
    • 67349129706 scopus 로고    scopus 로고
    • The biology of cystatin M/E and its cognate target proteases
    • Zeeuwen PL, Cheng T, Schalkwijk J: The biology of cystatin M/E and its cognate target proteases. J Invest Dermatol 2009;129:1327-1338.
    • (2009) J Invest Dermatol , vol.129 , pp. 1327-1338
    • Zeeuwen, P.L.1    Cheng, T.2    Schalkwijk, J.3
  • 34
    • 67349153579 scopus 로고    scopus 로고
    • Evaluation of cystatin M/E: A candidate for cornification disorders
    • Oji V, Zeeuwen P, Schalkwijk J, Traupe H: Evaluation of cystatin M/E: A candidate for cornification disorders. Arch Dermatol Res 2005;296:408.
    • (2005) Arch Dermatol Res , vol.296 , pp. 408
    • Oji, V.1    Zeeuwen, P.2    Schalkwijk, J.3    Traupe, H.4
  • 35
    • 0034125809 scopus 로고    scopus 로고
    • Stereoselective biosynthesis of hepoxilin B3 in human epidermis
    • Anton R, Vila L: Stereoselective biosynthesis of hepoxilin B3 in human epidermis. J Invest Dermatol 2000;114:554-559.
    • (2000) J Invest Dermatol , vol.114 , pp. 554-559
    • Anton, R.1    Vila, L.2
  • 36
    • 0036007280 scopus 로고    scopus 로고
    • Hepoxilin B3 and its enzymatically formed derivative trioxilin B3 are incorporated into phospholipids in psoriatic lesions
    • Anton R, Camacho M, Puig L, Vila L: Hepoxilin B3 and its enzymatically formed derivative trioxilin B3 are incorporated into phospholipids in psoriatic lesions. J Invest Dermatol 2002;118:139-146.
    • (2002) J Invest Dermatol , vol.118 , pp. 139-146
    • Anton, R.1    Camacho, M.2    Puig, L.3    Vila, L.4
  • 37
    • 0035336301 scopus 로고    scopus 로고
    • A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: Cloning, physical mapping, and expression
    • Krieg P, Marks F, Furstenberger G: A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: Cloning, physical mapping, and expression. Genomics 2001;73:323-330.
    • (2001) Genomics , vol.73 , pp. 323-330
    • Krieg, P.1    Marks, F.2    Furstenberger, G.3
  • 38
    • 0041923845 scopus 로고    scopus 로고
    • The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase
    • Yu Z, Schneider C, Boeglin WE, Marnett LJ, Brash AR: The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Proc Natl Acad Sci USA 2003;100:9162-9167.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 9162-9167
    • Yu, Z.1    Schneider, C.2    Boeglin, W.E.3    Marnett, L.J.4    Brash, A.R.5
  • 39
    • 11144351038 scopus 로고    scopus 로고
    • Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12RLOX and eLOX3
    • 16863
    • Yu Z, Schneider C, Boeglin WE, Brash AR: Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12RLOX and eLOX3. Biochim Biophys Acta 2005; 16863:238-247.
    • (2005) Biochim Biophys Acta , pp. 238-247
    • Yu, Z.1    Schneider, C.2    Boeglin, W.E.3    Brash, A.R.4
  • 40
    • 34247176651 scopus 로고    scopus 로고
    • 12R-Lipoxygenase deficiency disrupts epidermal barrier function
    • Epp N, Furstenberger G, Muller K, et al: 12R-Lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol 2007;177:173-182.
    • (2007) J Cell Biol , vol.177 , pp. 173-182
    • Epp, N.1    Furstenberger, G.2    Muller, K.3
  • 41
    • 34447334680 scopus 로고    scopus 로고
    • A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier
    • Moran JL, Qiu H, Turbe-Doan A, et al: A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol 2007;127:1893-1897.
    • (2007) J Invest Dermatol , vol.127 , pp. 1893-1897
    • Moran, J.L.1    Qiu, H.2    Turbe-Doan, A.3
  • 43
    • 33144486941 scopus 로고    scopus 로고
    • Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
    • Lefevre C, Bouadjar B, Ferrand V, et al: Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006;15:767-776.
    • (2006) Hum Mol Genet , vol.15 , pp. 767-776
    • Lefevre, C.1    Bouadjar, B.2    Ferrand, V.3
  • 44
    • 34447315030 scopus 로고    scopus 로고
    • The hepoxilin connection in the epidermis
    • Brash AR, Yu Z, Boeglin WE, Schneider C: The hepoxilin connection in the epidermis. FEBS J 2007; 274:3494-3502.
    • (2007) FEBS J , vol.274 , pp. 3494-3502
    • Brash, A.R.1    Yu, Z.2    Boeglin, W.E.3    Schneider, C.4
  • 45
    • 0025967453 scopus 로고
    • Neutral lipid storage disease: A possible functional defect in phospholipid-linked triacylglycerol metabolism
    • Williams ML, Coleman RA, Placezk D, Grunfeld C: Neutral lipid storage disease: A possible functional defect in phospholipid-linked triacylglycerol metabolism. Biochim Biophys Acta 1991;1096:162-169.
    • (1991) Biochim Biophys Acta , vol.1096 , pp. 162-169
    • Williams, M.L.1    Coleman, R.A.2    Placezk, D.3    Grunfeld, C.4
  • 46
    • 68049092870 scopus 로고    scopus 로고
    • Neutral lipid storage disease: Genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5
    • Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R: Neutral lipid storage disease: Genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab 2009;297:E289-E296.
    • (2009) Am J Physiol Endocrinol Metab , vol.297
    • Schweiger, M.1    Lass, A.2    Zimmermann, R.3    Eichmann, T.O.4    Zechner, R.5
  • 47
    • 0018216654 scopus 로고
    • The mammalian cutaneous permeability barrier: Defective barrier function is essential fatty acid deficiency correlates with abnormal intercellular lipid deposition
    • Elias PM, Brown BE: The mammalian cutaneous permeability barrier: Defective barrier function is essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. Lab Invest 1978; 39:574-583.
    • (1978) Lab Invest , vol.39 , pp. 574-583
    • Elias, P.M.1    Brown, B.E.2
  • 48
    • 0018964343 scopus 로고
    • The permeability barrier in essential fatty acid deficiency: Evidence for a direct role for linoleic acid in barrier function
    • Elias PM, Brown BE, Ziboh VA: The permeability barrier in essential fatty acid deficiency: Evidence for a direct role for linoleic acid in barrier function. J Invest Dermatol 1980;74:230-233.
    • (1980) J Invest Dermatol , vol.74 , pp. 230-233
    • Elias, P.M.1    Brown, B.E.2    Ziboh, V.A.3
  • 50
    • 0025981229 scopus 로고
    • Membrane structures in normal and essential fatty acid-deficient stratum corneum: Characterization by ruthenium tetroxide staining and X-ray diffraction
    • Hou SY, Mitra AK, White SH, Menon GK, Ghadially R, Elias PM: Membrane structures in normal and essential fatty acid-deficient stratum corneum: Characterization by ruthenium tetroxide staining and X-ray diffraction. J Invest Dermatol 1991;96: 215-223.
    • (1991) J Invest Dermatol , vol.96 , pp. 215-223
    • Hou, S.Y.1    Mitra, A.K.2    White, S.H.3    Menon, G.K.4    Ghadially, R.5    Elias, P.M.6
  • 51
    • 34250795603 scopus 로고    scopus 로고
    • Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha
    • Yu Z, Schneider C, Boeglin WE, Brash AR: Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha. Lipids 2007;42:491-497.
    • (2007) Lipids , vol.42 , pp. 491-497
    • Yu, Z.1    Schneider, C.2    Boeglin, W.E.3    Brash, A.R.4
  • 52
    • 0032448111 scopus 로고    scopus 로고
    • Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes
    • Rivier M, Safonova I, Lebrun P, Griffiths CE, Ailhaud G, Michel S: Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes. J Invest Dermatol 1998;111:1116-1121.
    • (1998) J Invest Dermatol , vol.111 , pp. 1116-1121
    • Rivier, M.1    Safonova, I.2    Lebrun, P.3    Griffiths, C.E.4    Ailhaud, G.5    Michel, S.6
  • 53
    • 0031945627 scopus 로고    scopus 로고
    • Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARalpha
    • Hanley K, Jiang Y, He SS, et al: Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARalpha. J Invest Dermatol 1998;110:368-375.
    • (1998) J Invest Dermatol , vol.110 , pp. 368-375
    • Hanley, K.1    Jiang, Y.2    He, S.S.3
  • 54
    • 0036153739 scopus 로고    scopus 로고
    • Topical peroxisome proliferator activated receptor-alpha activators reduce inflammation in irritant and allergic contact dermatitis models
    • Sheu MY, Fowler AJ, Kao J, et al: Topical peroxisome proliferator activated receptor-alpha activators reduce inflammation in irritant and allergic contact dermatitis models. J Invest Dermatol 2002; 118:94-101.
    • (2002) J Invest Dermatol , vol.118 , pp. 94-101
    • Sheu, M.Y.1    Fowler, A.J.2    Kao, J.3
  • 55
    • 0036916063 scopus 로고    scopus 로고
    • Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero
    • Schmuth M, Schoonjans K, Yu QC, et al: Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero. J Invest Dermatol 2002;119:1298-1303.
    • (2002) J Invest Dermatol , vol.119 , pp. 1298-1303
    • Schmuth, M.1    Schoonjans, K.2    Yu, Q.C.3
  • 56
    • 33947674880 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor-alpha activation inhibits Langerhans cell function
    • Dubrac S, Stoitzner P, Pirkebner D, et al: Peroxisome proliferator-activated receptor-alpha activation inhibits Langerhans cell function. J Immunol 2007;178: 4362-4372.
    • (2007) J Immunol , vol.178 , pp. 4362-4372
    • Dubrac, S.1    Stoitzner, P.2    Pirkebner, D.3
  • 57
    • 0037144475 scopus 로고    scopus 로고
    • The CYP4A isoforms hydroxylate epoxyeicosatrienoic acids to form high affinity peroxisome proliferator-activated receptor ligands
    • Cowart LA, Wei S, Hsu MH, et al: The CYP4A isoforms hydroxylate epoxyeicosatrienoic acids to form high affinity peroxisome proliferator- activated receptor ligands. J Biol Chem 2002;277:35105-35112.
    • (2002) J Biol Chem , vol.277 , pp. 35105-35112
    • Cowart, L.A.1    Wei, S.2    Hsu, M.H.3
  • 58
    • 0033067172 scopus 로고    scopus 로고
    • Hepoxilin signaling in intact human neutrophils: Biphasic elevation of intracellular calcium by unesterified hepoxilin A3
    • Reynaud D, Demin PM, Sutherland M, Nigam S, Pace-Asciak CR: Hepoxilin signaling in intact human neutrophils: Biphasic elevation of intracellular calcium by unesterified hepoxilin A3. FEBS Lett 1999;446:236-238.
    • (1999) FEBS Lett , vol.446 , pp. 236-238
    • Reynaud, D.1    Demin, P.M.2    Sutherland, M.3    Nigam, S.4    Pace-Asciak, C.R.5
  • 59
    • 0028881058 scopus 로고
    • Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis
    • Lavrijsen AP, Bouwstra JA, Gooris GS, Weerheim A, Bodde HE, Ponec M: Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J Invest Dermatol 1995;105:619-624.
    • (1995) J Invest Dermatol , vol.105 , pp. 619-624
    • Lavrijsen, A.P.1    Bouwstra, J.A.2    Gooris, G.S.3    Weerheim, A.4    Bodde, H.E.5    Ponec, M.6
  • 60
    • 0036617684 scopus 로고    scopus 로고
    • Basis for the permeability barrier abnormality in lamellar ichthyosis
    • Elias PM, Schmuth M, Uchida Y, et al: Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol 2002;11:248-256.
    • (2002) Exp Dermatol , vol.11 , pp. 248-256
    • Elias, P.M.1    Schmuth, M.2    Uchida, Y.3
  • 61
    • 67349286456 scopus 로고    scopus 로고
    • Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants
    • De Juanes S, Epp N, Latzko S, et al: Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. J Invest Dermatol 2009;129: 1429-1436.
    • (2009) J Invest Dermatol , vol.129 , pp. 1429-1436
    • De Juanes, S.1    Epp, N.2    Latzko, S.3
  • 62
    • 12244312472 scopus 로고    scopus 로고
    • Autosomal recessive congenital ichthyosis in Sweden and Estonia: Clinical, genetic and ultrastructural findings in eighty-three patients
    • Ganemo A, Pigg M, Virtanen M, et al: Autosomal recessive congenital ichthyosis in Sweden and Estonia: Clinical, genetic and ultrastructural findings in eighty-three patients. Acta Derm Venereol 2003;83:24-30.
    • (2003) Acta Derm Venereol , vol.83 , pp. 24-30
    • Ganemo, A.1    Pigg, M.2    Virtanen, M.3
  • 63
    • 33845308573 scopus 로고    scopus 로고
    • The skin barrier in healthy and diseased state
    • Bouwstra JA, Ponec M: The skin barrier in healthy and diseased state. Biochim Biophys Acta 2006; 1758:2080-2095.
    • (2006) Biochim Biophys Acta , vol.1758 , pp. 2080-2095
    • Bouwstra, J.A.1    Ponec, M.2
  • 64
    • 35348813104 scopus 로고    scopus 로고
    • Novel ABCA12 mutations identified in two cases of nonbullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia
    • Natsuga K, Akiyama M, Kato N, et al: Novel ABCA12 mutations identified in two cases of nonbullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 2007;127:2669-2673.
    • (2007) J Invest Dermatol , vol.127 , pp. 2669-2673
    • Natsuga, K.1    Akiyama, M.2    Kato, N.3
  • 65
    • 0021806009 scopus 로고
    • Neutral lipid storage disease with ichthyosis: Defective lamellar body contents and intracellular dispersion
    • Elias PM, Williams ML: Neutral lipid storage disease with ichthyosis: Defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985;121:1000-1008.
    • (1985) Arch Dermatol , vol.121 , pp. 1000-1008
    • Elias, P.M.1    Williams, M.L.2
  • 66
    • 33747332788 scopus 로고    scopus 로고
    • Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
    • Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM: Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). J Invest Dermatol 2006;126:2032-2038.
    • (2006) J Invest Dermatol , vol.126 , pp. 2032-2038
    • Demerjian, M.1    Crumrine, D.A.2    Milstone, L.M.3    Williams, M.L.4    Elias, P.M.5
  • 68
    • 26244465538 scopus 로고    scopus 로고
    • Erythrokeratoderma variabilis-like ichthyosis in Chanarin- Dorfman syndrome
    • Pujol RM, Gilaberte M, Toll A, et al: Erythrokeratoderma variabilis-like ichthyosis in Chanarin- Dorfman syndrome. Br J Dermatol 2005;153: 838-841.
    • (2005) Br J Dermatol , vol.153 , pp. 838-841
    • Pujol, R.M.1    Gilaberte, M.2    Toll, A.3
  • 69
    • 33645105701 scopus 로고    scopus 로고
    • Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene
    • Solomon C, Bernier L, Germain L, Dufour R, Davignon J: Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. Arch Dermatol 2006;142:402-403.
    • (2006) Arch Dermatol , vol.142 , pp. 402-403
    • Solomon, C.1    Bernier, L.2    Germain, L.3    Dufour, R.4    Davignon, J.5
  • 70
    • 74749109402 scopus 로고    scopus 로고
    • Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome
    • Ujihara M, Nakajima K, Yamamoto M, et al: Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. J Dermatol Sci 20010;57:102-107.
    • J Dermatol Sci , vol.2010 , Issue.57 , pp. 102-107
    • Ujihara, M.1    Nakajima, K.2    Yamamoto, M.3
  • 71
    • 0034764272 scopus 로고    scopus 로고
    • Mutations in CGI- 58, the gene encoding a new protein of the esterase/ lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
    • Lefevre C, Jobard F, Caux F, et al: Mutations in CGI- 58, the gene encoding a new protein of the esterase/ lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001;69:1002-1012.
    • (2001) Am J Hum Genet , vol.69 , pp. 1002-1012
    • Lefevre, C.1    Jobard, F.2    Caux, F.3
  • 72
    • 0242490136 scopus 로고    scopus 로고
    • Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome
    • Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H: Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003;121:1029-1034.
    • (2003) J Invest Dermatol , vol.121 , pp. 1029-1034
    • Akiyama, M.1    Sawamura, D.2    Nomura, Y.3    Sugawara, M.4    Shimizu, H.5
  • 73
    • 34547922419 scopus 로고    scopus 로고
    • A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome
    • Ben Selma Z, Yilmaz S, Schischmanoff PO, et al: A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome. J Invest Dermatol 2007;127:2273-2276.
    • (2007) J Invest Dermatol , vol.127 , pp. 2273-2276
    • Ben Selma, Z.1    Yilmaz, S.2    Schischmanoff, P.O.3
  • 74
    • 33845900676 scopus 로고    scopus 로고
    • The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    • Fischer J, Lefevre C, Morava E, et al: The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007;39:28-30.
    • (2007) Nat Genet , vol.39 , pp. 28-30
    • Fischer, J.1    Lefevre, C.2    Morava, E.3
  • 76
    • 77951212321 scopus 로고    scopus 로고
    • Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58)
    • Radner FP, Streith IE, Schoiswohl G, et al: Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem 20010;285:7300-7311.
    • (2010) J Biol Chem , vol.285 , pp. 7300-7311
    • Radner, F.P.1    Streith, I.E.2    Schoiswohl, G.3
  • 77
    • 8944256087 scopus 로고    scopus 로고
    • Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts
    • Igal RA, Coleman RA: Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. J Biol Chem 1996;271:16644-16651.
    • (1996) J Biol Chem , vol.271 , pp. 16644-16651
    • Igal, R.A.1    Coleman, R.A.2
  • 78
    • 0031883290 scopus 로고    scopus 로고
    • Neutral lipid storage disease: A genetic disorder with abnormalities in the regulation of phospholipid metabolism
    • Igal RA, Coleman RA: Neutral lipid storage disease: A genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res 1998; 39:31-43.
    • (1998) J Lipid Res , vol.39 , pp. 31-43
    • Igal, R.A.1    Coleman, R.A.2
  • 79
    • 0029090027 scopus 로고
    • Extracellular processing of phospholipids is required for permeability barrier homeostasis
    • Man MQ, Feingold KR, Jain M, Elias PM: Extracellular processing of phospholipids is required for permeability barrier homeostasis. J Lipid Res 1995; 36:1925-1935.
    • (1995) J Lipid Res , vol.36 , pp. 1925-1935
    • Man, M.Q.1    Feingold, K.R.2    Jain, M.3    Elias, P.M.4
  • 80
    • 0037499799 scopus 로고    scopus 로고
    • Stratum corneum pH: Formation and function of the 'acid mantle'
    • Fluhr JW, Elias PM: Stratum corneum pH: Formation and function of the 'acid mantle'. Exog Dermatol 2002;1:163-175.
    • (2002) Exog Dermatol , vol.1 , pp. 163-175
    • Fluhr, J.W.1    Elias, P.M.2
  • 81
    • 42149101196 scopus 로고    scopus 로고
    • Outside-to-inside' (and now back to 'outside') pathogenic mechanisms in atopic dermatitis
    • Elias PM, Steinhoff M: 'Outside-to-inside' (and now back to 'outside') pathogenic mechanisms in atopic dermatitis. J Invest Dermatol 2008;128:1067-1070.
    • (2008) J Invest Dermatol , vol.128 , pp. 1067-1070
    • Elias, P.M.1    Steinhoff, M.2
  • 83
    • 0023204691 scopus 로고
    • The keratotic tumors of Cowden's disease: An electronmicroscopic study
    • Johnson BL, Kramer EM, Lavker RM: The keratotic tumors of Cowden's disease: An electronmicroscopic study. J Cutan Pathol 1987;14:291-298.
    • (1987) J Cutan Pathol , vol.14 , pp. 291-298
    • Johnson, B.L.1    Kramer, E.M.2    Lavker, R.M.3
  • 84
    • 0025139724 scopus 로고
    • Electron microscopy of the effects of dithranol on healthy and on psoriatic skin
    • Kanerva L: Electron microscopy of the effects of dithranol on healthy and on psoriatic skin. Am J Dermatopathol 1990;12:51-62.
    • (1990) Am J Dermatopathol , vol.12 , pp. 51-62
    • Kanerva, L.1
  • 85
    • 0031046505 scopus 로고    scopus 로고
    • Richner-Hanhart's syndrome: New ultrastructural observations on skin lesions of two cases
    • el-Shoura SM, Tallab TM: Richner-Hanhart's syndrome: New ultrastructural observations on skin lesions of two cases. Ultrastruct Pathol 1997;21:51-56.
    • (1997) Ultrastruct Pathol , vol.21 , pp. 51-56
    • El-Shoura, S.M.1    Tallab, T.M.2
  • 86
    • 1542407661 scopus 로고    scopus 로고
    • Skin toxicity of jet fuels: Ultrastructural studies and the effects of substance P
    • Monteiro-Riviere NA, Inman AO, Riviere JE: Skin toxicity of jet fuels: Ultrastructural studies and the effects of substance P. Toxicol Appl Pharmacol 2004;195:339-347.
    • (2004) Toxicol Appl Pharmacol , vol.195 , pp. 339-347
    • Monteiro-Riviere, N.A.1    Inman, A.O.2    Riviere, J.E.3
  • 87
    • 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
  • 88
    • 3142738035 scopus 로고    scopus 로고
    • CGI-58 interacts with perilipin and is localized to lipid droplets: Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome
    • Yamaguchi T, Omatsu N, Matsushita S, Osumi T: CGI-58 interacts with perilipin and is localized to lipid droplets: Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. J Biol Chem 2004;279:30490-30497.
    • (2004) J Biol Chem , vol.279 , pp. 30490-30497
    • Yamaguchi, T.1    Omatsu, N.2    Matsushita, S.3    Osumi, T.4
  • 89
    • 3242698066 scopus 로고    scopus 로고
    • Pathophysiologic basis for growth failure in children with ichthyosis: An evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure
    • Moskowitz DG, Fowler AJ, Heyman MB, et al: Pathophysiologic basis for growth failure in children with ichthyosis: An evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr 2004;145:82-92.
    • (2004) J Pediatr , vol.145 , pp. 82-92
    • Moskowitz, D.G.1    Fowler, A.J.2    Heyman, M.B.3
  • 90
    • 77956877504 scopus 로고    scopus 로고
    • Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome
    • Uchida Y, Cho YH, Moradian S, et al: Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. SID 2010 Annu Meet, Atlanta, 2010.
    • (2010) SID 2010 Annu Meet, Atlanta
    • Uchida, Y.1    Cho, Y.H.2    Moradian, S.3
  • 91
    • 0015474668 scopus 로고
    • Lipid bilayers and biomembranes
    • Bangham, AD: Lipid bilayers and biomembranes. Annu Rev Biochem 1972;41:753-776.
    • (1972) Annu Rev Biochem , vol.41 , pp. 753-776
    • Bangham, A.D.1
  • 92
    • 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
  • 93
    • 0023752378 scopus 로고
    • Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: Molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis
    • Rehfeld SJ, Plachy WZ, Williams ML, Elias PM: Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: Molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis. J Invest Dermatol 1988;91:499-505.
    • (1988) J Invest Dermatol , vol.91 , pp. 499-505
    • Rehfeld, S.J.1    Plachy, W.Z.2    Williams, M.L.3    Elias, P.M.4
  • 94
    • 10744223838 scopus 로고    scopus 로고
    • Basis for abnormal desquamation and permeability barrier dysfunction in RXLI
    • Elias PM, Crumrine D, Rassner U, et al: Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 2004;122: 314-319.
    • (2004) J Invest Dermatol , vol.122 , pp. 314-319
    • Elias, P.M.1    Crumrine, D.2    Rassner, U.3
  • 95
    • 33747106226 scopus 로고    scopus 로고
    • Phytanic acid: Production from phytol, its breakdown and role in human disease
    • Van den Brink DM, Wanders RJ: Phytanic acid: Production from phytol, its breakdown and role in human disease. Cell Mol Life Sci 2006;63:1752-1765.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 1752-1765
    • Van Den Brink, D.M.1    Wanders, R.J.2
  • 96
    • 9744242042 scopus 로고    scopus 로고
    • Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome
    • Shibaki A, Akiyama M, Shimizu H: Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome. J Invest Dermatol 2004;123:1197-1199.
    • (2004) J Invest Dermatol , vol.123 , pp. 1197-1199
    • Shibaki, A.1    Akiyama, M.2    Shimizu, H.3
  • 97
    • 33845231217 scopus 로고    scopus 로고
    • Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency
    • Rizzo WB: Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 2007;90:1-9.
    • (2007) Mol Genet Metab , vol.90 , pp. 1-9
    • Rizzo, W.B.1
  • 98
    • 33645473649 scopus 로고    scopus 로고
    • Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease
    • Holleran WM, Ziegler SG, Goker-Alpan O, et al: Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin Genet 2006; 69:355-357.
    • (2006) Clin Genet , vol.69 , pp. 355-357
    • Holleran, W.M.1    Ziegler, S.G.2    Goker-Alpan, O.3
  • 99
    • 0028353820 scopus 로고
    • X-linked dominant ichthyosis with peroxisomal deficiency: An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse
    • Emami S, Hanley KP, Esterly NB, Daniallinia N, Williams ML: X-linked dominant ichthyosis with peroxisomal deficiency: An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse. Arch Dermatol 1994;130:325-336.
    • (1994) Arch Dermatol , vol.130 , pp. 325-336
    • Emami, S.1    Hanley, K.P.2    Esterly, N.B.3    Daniallinia, N.4    Williams, M.L.5
  • 101
    • 0034957331 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome
    • Willemsen MA, Ijlst L, Steijlen PM, et al: Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Brain 2001;124:1426-1437.
    • (2001) Brain , vol.124 , pp. 1426-1437
    • Willemsen, M.A.1    Ijlst, L.2    Steijlen, P.M.3
  • 102
    • 0020001921 scopus 로고
    • Ichthyosis in the sjogren-larsson syndrome
    • Jagell S, Liden S: Ichthyosis in the Sjogren-Larsson syndrome. Clin Genet 1982;21:243-252.
    • (1982) Clin Genet , vol.21 , pp. 243-252
    • Jagell, S.1    Liden, S.2
  • 103
    • 0028100996 scopus 로고
    • Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
    • Paige DG, Morse-Fisher N, Harper JI: Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 1994;131:23-27.
    • (1994) Br J Dermatol , vol.131 , pp. 23-27
    • Paige, D.G.1    Morse-Fisher, N.2    Harper, J.I.3
  • 104
    • 0035212880 scopus 로고    scopus 로고
    • Pathophysiological role of leukotrienes in dermatological diseases: Potential therapeutic implications
    • Wedi B, Kapp A: Pathophysiological role of leukotrienes in dermatological diseases: Potential therapeutic implications. Biodrugs 2001;15:729-743.
    • (2001) Biodrugs , vol.15 , pp. 729-743
    • Wedi, B.1    Kapp, A.2
  • 105
    • 0033624142 scopus 로고    scopus 로고
    • Sjogren-Larsson syndrome: Accumulation of free fatty alcohols in cultured fibroblasts and plasma
    • Rizzo WB, Craft DA: Sjogren-Larsson syndrome: Accumulation of free fatty alcohols in cultured fibroblasts and plasma. J Lipid Res 2000;41:1077-1081.
    • (2000) J Lipid Res , vol.41 , pp. 1077-1081
    • Rizzo, W.B.1    Craft, D.A.2
  • 106
    • 0033594247 scopus 로고    scopus 로고
    • Sjogren-Larsson syndrome: Explaining the skin-brain connection
    • Rizzo WB: Sjogren-Larsson syndrome: Explaining the skin-brain connection. Neurology 1999;52:1307-1308.
    • (1999) Neurology , vol.52 , pp. 1307-1308
    • Rizzo, W.B.1
  • 107
    • 33847411888 scopus 로고    scopus 로고
    • Sjogren-Larsson syndrome
    • Gordon N: Sjogren-Larsson syndrome. Dev Med Child Neurol 2007;49:152-154.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 152-154
    • Gordon, N.1
  • 108
    • 77955551313 scopus 로고    scopus 로고
    • Ichthyosis in Sjogren- Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion
    • E-pub ahead of print
    • Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM: Ichthyosis in Sjogren- Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res 2010, E-pub ahead of print.
    • (2010) Arch Dermatol Res
    • Rizzo, W.B.1    S'Aulis, D.2    Jennings, M.A.3    Crumrine, D.A.4    Williams, M.L.5    Elias, P.M.6
  • 110
    • 15644382686 scopus 로고
    • Ultrastructural features of ichthyotic skin in Refsum's syndrome
    • in Marks R, Dykes P (eds): New York, SP Medical & Scientific Books
    • Blanchet-Bardon C, Anton-Lamprecht I, Puissant A, Schnyder U: Ultrastructural features of ichthyotic skin in Refsum's syndrome; in Marks R, Dykes P (eds): The Ichthyoses. New York, SP Medical & Scientific Books, 1978, pp 65-69.
    • (1978) The Ichthyoses , pp. 65-69
    • Blanchet-Bardon, C.1    Anton-Lamprecht, I.2    Puissant, A.3    Schnyder, U.4
  • 111
    • 0037318856 scopus 로고    scopus 로고
    • Identification of PEX7 as the second gene involved in Refsum disease
    • Van den Brink DM, Brites P, Haasjes J, et al: Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 2003;72:471-477.
    • (2003) Am J Hum Genet , vol.72 , pp. 471-477
    • Van Den Brink, D.M.1    Brites, P.2    Haasjes, J.3
  • 112
    • 0029898759 scopus 로고    scopus 로고
    • Phytanic acid oxidation: Normal activation and transport yet defective alphahydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata
    • Pahan K, Khan M, Singh I: Phytanic acid oxidation: Normal activation and transport yet defective alphahydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. J Lipid Res 1996;37:1137-1143.
    • (1996) J Lipid Res , vol.37 , pp. 1137-1143
    • Pahan, K.1    Khan, M.2    Singh, I.3
  • 113
    • 0026674614 scopus 로고
    • Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome: Case study and review of peroxisomal disorders in relation to skin disease
    • Emami S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Williams ML: Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome: Case study and review of peroxisomal disorders in relation to skin disease. Arch Dermatol 1992;128: 1213-1222.
    • (1992) Arch Dermatol , vol.128 , pp. 1213-1222
    • Emami, S.1    Rizzo, W.B.2    Hanley, K.P.3    Taylor, J.M.4    Goldyne, M.E.5    Williams, M.L.6
  • 114
    • 0032537502 scopus 로고    scopus 로고
    • Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid
    • Verhoeven NM, Jakobs C, Carney G, Somers MP, Wanders RJ, Rizzo WB: Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. FEBS Lett 1998;429:225-228.
    • (1998) FEBS Lett , vol.429 , pp. 225-228
    • Verhoeven, N.M.1    Jakobs, C.2    Carney, G.3    Somers, M.P.4    Wanders, R.J.5    Rizzo, W.B.6
  • 115
    • 0022416999 scopus 로고
    • Lyonization and the lines of Blaschko
    • Happle R: Lyonization and the lines of Blaschko. Hum Genet 1985;70:200-206.
    • (1985) Hum Genet , vol.70 , pp. 200-206
    • Happle, R.1
  • 116
    • 0018611617 scopus 로고
    • X-linked dominant chondrodysplasia punctata: Review of literature and report of a case
    • Happle R: X-linked dominant chondrodysplasia punctata: Review of literature and report of a case. Hum Genet 1979;53:65-73.
    • (1979) Hum Genet , vol.53 , pp. 65-73
    • Happle, R.1
  • 117
    • 0034597344 scopus 로고    scopus 로고
    • Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata
    • Ikegawa S, Ohashi H, Ogata T, et al: Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 2000; 94:300-305.
    • (2000) Am J Med Genet , vol.94 , pp. 300-305
    • Ikegawa, S.1    Ohashi, H.2    Ogata, T.3
  • 118
    • 36148951436 scopus 로고    scopus 로고
    • Novel EBP gene mutations in Conradi-Hunermann- Happle syndrome
    • Steijlen PM, van Geel M, Vreeburg M, et al: Novel EBP gene mutations in Conradi-Hunermann- Happle syndrome. Br J Dermatol 2007;157:1225-1229.
    • (2007) Br J Dermatol , vol.157 , pp. 1225-1229
    • Steijlen, P.M.1    Van Geel, M.2    Vreeburg, M.3
  • 119
    • 33644852974 scopus 로고    scopus 로고
    • Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
    • Feldmeyer L, Mevorah B, Grzeschik KH, Huber M, Hohl D: Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). Br J Dermatol 2006;154:766-769.
    • (2006) Br J Dermatol , vol.154 , pp. 766-769
    • Feldmeyer, L.1    Mevorah, B.2    Grzeschik, K.H.3    Huber, M.4    Hohl, D.5
  • 120
    • 0012978935 scopus 로고    scopus 로고
    • Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    • Herman GE, Kelley RI, Pureza V, et al: Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med 2002;4:434-438.
    • (2002) Genet Med , vol.4 , pp. 434-438
    • Herman, G.E.1    Kelley, R.I.2    Pureza, V.3
  • 121
    • 0033950130 scopus 로고    scopus 로고
    • CHILD syndrome caused by deficiency of 3betahydroxysteroid- delta8, delta7-isomerase
    • Grange DK, Kratz LE, Braverman NE, Kelley RI: CHILD syndrome caused by deficiency of 3betahydroxysteroid- delta8, delta7-isomerase. Am J Med Genet 2000;90:328-335.
    • (2000) Am J Med Genet , vol.90 , pp. 328-335
    • Grange, D.K.1    Kratz, L.E.2    Braverman, N.E.3    Kelley, R.I.4
  • 122
    • 0033972847 scopus 로고    scopus 로고
    • Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
    • Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000;90:339-346.
    • (2000) Am J Med Genet , vol.90 , pp. 339-346
    • Konig, A.1    Happle, R.2    Bornholdt, D.3    Engel, H.4    Grzeschik, K.H.5
  • 123
    • 33646693868 scopus 로고    scopus 로고
    • X-chromosome inactivation: Role in skin disease expression
    • Happle R: X-chromosome inactivation: Role in skin disease expression. Acta Paediatr Suppl 2006;95:16-23.
    • (2006) Acta Paediatr Suppl , vol.95 , pp. 16-23
    • Happle, R.1
  • 124
    • 0033037717 scopus 로고    scopus 로고
    • Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
    • Derry JM, Gormally E, Means GD, et al: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999;22:286-290.
    • (1999) Nat Genet , vol.22 , pp. 286-290
    • Derry, J.M.1    Gormally, E.2    Means, G.D.3
  • 125
    • 0032987971 scopus 로고    scopus 로고
    • Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi- Hunermann syndrome
    • Braverman N, Lin P, Moebius FF, et al: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi- Hunermann syndrome. Nat Genet 1999;22:291-294.
    • (1999) Nat Genet , vol.22 , pp. 291-294
    • Braverman, N.1    Lin, P.2    Moebius, F.F.3
  • 127
    • 12244270568 scopus 로고
    • Applications of the diazacholesterol animal model of ichthyosis
    • in Marks R, Plewig G (eds): Berlin, Springer
    • Elias P, Williams ML, Maloney M, Fritsch P, Chung J-C: Applications of the diazacholesterol animal model of ichthyosis; in Marks R, Plewig G (eds): Skin Models. Berlin, Springer, 1986, pp 122-135.
    • (1986) Skin Models , pp. 122-135
    • Elias, P.1    Williams, M.L.2    Maloney, M.3    Fritsch, P.4    Chung, J.-C.5
  • 128
    • 0020608019 scopus 로고
    • Diazacholesterol-induced ichthyosis in the hairless mouse I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model
    • Elias PM, Lampe MA, Chung JC, Williams ML: Diazacholesterol-induced ichthyosis in the hairless mouse. I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model. Lab Invest 1983;48:565-577.
    • (1983) Lab Invest , vol.48 , pp. 565-577
    • Elias, P.M.1    Lampe, M.A.2    Chung, J.C.3    Williams, M.L.4
  • 129
    • 0026284989 scopus 로고
    • The regulation and role of epidermal lipid synthesis
    • Feingold KR: The regulation and role of epidermal lipid synthesis. Adv Lipid Res 1991;24:57-82.
    • (1991) Adv Lipid Res , vol.24 , pp. 57-82
    • Feingold, K.R.1
  • 130
    • 0344953585 scopus 로고    scopus 로고
    • A defective response to hedgehog signaling in disorders of cholesterol biosynthesis
    • Cooper MK, Wassif CA, Krakowiak PA, et al: A defective response to hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003; 33:508-513.
    • (2003) Nat Genet , vol.33 , pp. 508-513
    • Cooper, M.K.1    Wassif, C.A.2    Krakowiak, P.A.3
  • 132
    • 0023268452 scopus 로고
    • Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata
    • Holmes RD, Wilson GN, Hajra AK: Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata. N Engl J Med 1987; 316:1608.
    • (1987) N Engl J Med , vol.316 , pp. 1608
    • Holmes, R.D.1    Wilson, G.N.2    Hajra, A.K.3
  • 133
    • 0031750761 scopus 로고    scopus 로고
    • X-linked dominant chondrodysplasia punctata. A peroxisomal disorder?
    • Wilson CJ, Aftimos S: X-linked dominant chondrodysplasia punctata: A peroxisomal disorder? Am J Med Genet 1998;78:300-302.
    • (1998) Am J Med Genet , vol.78 , pp. 300-302
    • Wilson, C.J.1    Aftimos, S.2
  • 134
    • 0024395245 scopus 로고
    • CHILD syndrome: Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts
    • Goldyne ME, Williams ML: CHILD syndrome: Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts. J Clin Invest 1989;84:357-360.
    • (1989) J Clin Invest , vol.84 , pp. 357-360
    • Goldyne, M.E.1    Williams, M.L.2
  • 136
    • 36248957531 scopus 로고    scopus 로고
    • Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
    • Liao H, Waters AJ, Goudie DR, et al: Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol 2007;127: 2795-2798.
    • (2007) J Invest Dermatol , vol.127 , pp. 2795-2798
    • Liao, H.1    Waters, A.J.2    Goudie, D.R.3
  • 137
    • 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 Jr., E.H.1    Krauss, R.M.2    Shackleton, C.H.3
  • 138
    • 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
  • 139
    • 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;ii:645.
    • (1984) Lancet , vol.2 , pp. 645
    • Ibsen, H.H.1    Brandrup, F.2    Secher, B.3
  • 140
    • 0021903338 scopus 로고
    • Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome
    • 388-389
    • Shapiro LJ: Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet 1985;14:331-381, 388-389.
    • (1985) Adv Hum Genet , vol.14 , pp. 331-381
    • Shapiro, L.J.1
  • 141
    • 0022579967 scopus 로고
    • Placental sulfatase deficiency: Maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis
    • Bradshaw KD, Carr BR: Placental sulfatase deficiency: Maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. Obstet Gynecol Surv 1986;41:401-413.
    • (1986) Obstet Gynecol Surv , vol.41 , pp. 401-413
    • Bradshaw, K.D.1    Carr, B.R.2
  • 142
    • 0021266564 scopus 로고
    • Placental steroid sulfatase deficiency: Biochemical diagnosis and clinical review
    • Lykkesfeldt G, Nielsen MD, Lykkesfeldt AE: Placental steroid sulfatase deficiency: Biochemical diagnosis and clinical review. Obstet Gynecol 1984; 64:49-54.
    • (1984) Obstet Gynecol , vol.64 , pp. 49-54
    • Lykkesfeldt, G.1    Nielsen, M.D.2    Lykkesfeldt, A.E.3
  • 143
    • 0028945267 scopus 로고
    • Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency
    • David M, Israel N, Merksamer R, et al: Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. Fetal Diagn Ther 1995;10:76-79.
    • (1995) Fetal Diagn Ther , vol.10 , pp. 76-79
    • David, M.1    Israel, N.2    Merksamer, R.3
  • 144
    • 0038384014 scopus 로고    scopus 로고
    • Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions
    • Schoen E, Norem C, O'Keefe J, Krieger R, Walton D, To TT: Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol 2003;102:167-172.
    • (2003) Obstet Gynecol , vol.102 , pp. 167-172
    • Schoen, E.1    Norem, C.2    O'Keefe, J.3    Krieger, R.4    Walton, D.5    To, T.T.6
  • 147
    • 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;i:70-72.
    • (1978) Lancet , vol.1 , pp. 70-72
    • Webster, D.1    France, J.T.2    Shapiro, L.J.3    Weiss, R.4
  • 148
    • 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
  • 149
    • 0018627992 scopus 로고
    • Regional assignment of the steroid sulfatase-Xlinked 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-Xlinked 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
  • 150
    • 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
  • 151
    • 0018838954 scopus 로고
    • Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223
    • Tiepolo L, Zuffardi O, Fraccaro M, et al: Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 1980;54:205-206.
    • (1980) Hum Genet , vol.54 , pp. 205-206
    • Tiepolo, L.1    Zuffardi, O.2    Fraccaro, M.3
  • 152
    • 1842283931 scopus 로고
    • Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome- linked ichthyosis
    • Ballabio A, Parenti G, Carrozzo R, et al: Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome- linked ichthyosis. Proc Natl Acad Sci USA 1987;84:4519-4523.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4519-4523
    • Ballabio, A.1    Parenti, G.2    Carrozzo, R.3
  • 153
    • 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 Jr., E.H.5
  • 154
    • 0023241709 scopus 로고
    • Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase
    • Conary JT, Lorkowski G, Schmidt B, et al: Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. Biochem Biophys Res Commun 1987;144:1010-1017.
    • (1987) Biochem Biophys Res Commun , vol.144 , pp. 1010-1017
    • Conary, J.T.1    Lorkowski, G.2    Schmidt, B.3
  • 155
    • 0023278343 scopus 로고
    • Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)
    • Gillard EF, Affara NA, Yates JR, et al: Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res 1987;15:3977-3985.
    • (1987) Nucleic Acids Res , vol.15 , pp. 3977-3985
    • Gillard, E.F.1    Affara, N.A.2    Yates, J.R.3
  • 157
    • 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
  • 158
    • 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, et al: 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
  • 159
    • 0032707125 scopus 로고    scopus 로고
    • Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
    • De Vries B, Eussen B, van Diggelen O, et al: Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am J Med Genet A 1999;87:189-194.
    • (1999) Am J Med Genet A , vol.87 , pp. 189-194
    • De Vries, B.1    Eussen, B.2    Van Diggelen, O.3
  • 160
    • 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, et al: 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
  • 161
    • 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
  • 162
    • 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, et al: 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
  • 165
    • 0023472302 scopus 로고
    • Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid
    • Rearick JI, Albro PW, Jetten AM: Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid. J Biol Chem 1987;262:13069-13074.
    • (1987) J Biol Chem , vol.262 , pp. 13069-13074
    • Rearick, J.I.1    Albro, P.W.2    Jetten, A.M.3
  • 166
    • 0023553255 scopus 로고
    • Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro
    • Rearick JI, Hesterberg TW, Jetten AM: Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro. J Cell Physiol 1987;133:573-578.
    • (1987) J Cell Physiol , vol.133 , pp. 573-578
    • Rearick, J.I.1    Hesterberg, T.W.2    Jetten, A.M.3
  • 167
    • 0022974668 scopus 로고
    • Accumulation of cholesterol 3-sulfate during in vitro squamous differentiation of rabbit tracheal epithelial cells and its regulation by retinoids
    • Rearick JI, Jetten AM: Accumulation of cholesterol 3-sulfate during in vitro squamous differentiation of rabbit tracheal epithelial cells and its regulation by retinoids. J Biol Chem 1986;261:13898-13904.
    • (1986) J Biol Chem , vol.261 , pp. 13898-13904
    • Rearick, J.I.1    Jetten, A.M.2
  • 168
    • 0024373589 scopus 로고
    • Action of phorbol esters, bryostatins, and retinoic acid on cholesterol sulfate synthesis: Relation to the multistep process of differentiation in human epidermal keratinocytes
    • Jetten AM, George MA, Pettit GR, Herald CL, Rearick JI: Action of phorbol esters, bryostatins, and retinoic acid on cholesterol sulfate synthesis: Relation to the multistep process of differentiation in human epidermal keratinocytes. J Invest Dermatol 1989;93:108-115.
    • (1989) J Invest Dermatol , vol.93 , pp. 108-115
    • Jetten, A.M.1    George, M.A.2    Pettit, G.R.3    Herald, C.L.4    Rearick, J.I.5
  • 169
    • 2442421716 scopus 로고    scopus 로고
    • Expression of cholesterol sulfotransferase (SULT2B1b) in human skin and primary cultures of human epidermal keratinocytes
    • Higashi Y, Fuda H, Yanai H, et al: Expression of cholesterol sulfotransferase (SULT2B1b) in human skin and primary cultures of human epidermal keratinocytes. J Invest Dermatol 2004;122:1207-1213.
    • (2004) J Invest Dermatol , vol.122 , pp. 1207-1213
    • Higashi, Y.1    Fuda, H.2    Yanai, H.3
  • 171
    • 0023203830 scopus 로고
    • Retinoic acid and substratum regulate the differentiation of rabbit tracheal epithelial cells into squamous and secretory phenotype: Morphological and biochemical characterization
    • Jetten AM, Brody AR, Deas MA, Hook GE, Rearick JI, Thacher SM: Retinoic acid and substratum regulate the differentiation of rabbit tracheal epithelial cells into squamous and secretory phenotype: Morphological and biochemical characterization. Lab Invest 1987;56:654-664.
    • (1987) Lab Invest , vol.56 , pp. 654-664
    • Jetten, A.M.1    Brody, A.R.2    Deas, M.A.3    Hook, G.E.4    Rearick, J.I.5    Thacher, S.M.6
  • 172
    • 0028115069 scopus 로고
    • Programmed expression of cholesterol sulfotransferase and transglutaminase during epidermal differentiation of murine skin development
    • Kagehara M, Tachi M, Harii K, Iwamori M: Programmed expression of cholesterol sulfotransferase and transglutaminase during epidermal differentiation of murine skin development. Biochim Biophys Acta 1994;1215:183-189.
    • (1994) Biochim Biophys Acta , vol.1215 , pp. 183-189
    • Kagehara, M.1    Tachi, M.2    Harii, K.3    Iwamori, M.4
  • 173
    • 0031004650 scopus 로고    scopus 로고
    • Epidermal steroid sulfatase and cholesterol sulfotransferase are regulated during late gestation in the fetal rat
    • Hanley K, Jiang Y, Katagiri C, Feingold KR, Williams ML: Epidermal steroid sulfatase and cholesterol sulfotransferase are regulated during late gestation in the fetal rat. J Invest Dermatol 1997;108:871-875.
    • (1997) J Invest Dermatol , vol.108 , pp. 871-875
    • Hanley, K.1    Jiang, Y.2    Katagiri, C.3    Feingold, K.R.4    Williams, M.L.5
  • 174
    • 0032979048 scopus 로고    scopus 로고
    • Induction of selected lipid metabolic enzymes and differentiation- linked structural proteins by air exposure in fetal rat skin explants
    • Komuves LG, Hanley K, Jiang Y, et al: Induction of selected lipid metabolic enzymes and differentiation- linked structural proteins by air exposure in fetal rat skin explants. J Invest Dermatol 1999;112: 303-309.
    • (1999) J Invest Dermatol , vol.112 , pp. 303-309
    • Komuves, L.G.1    Hanley, K.2    Jiang, Y.3
  • 175
    • 30844464332 scopus 로고    scopus 로고
    • LXR and PPAR activators stimulate cholesterol sulfotransferase type 2 isoform 1b in human keratinocytes
    • Jiang YJ, Kim P, Elias PM, Feingold KR: LXR and PPAR activators stimulate cholesterol sulfotransferase type 2 isoform 1b in human keratinocytes. J Lipid Res 2005;46:2657-2666.
    • (2005) J Lipid Res , vol.46 , pp. 2657-2666
    • Jiang, Y.J.1    Kim, P.2    Elias, P.M.3    Feingold, K.R.4
  • 176
    • 0036796816 scopus 로고    scopus 로고
    • Sulfonation and molecular action
    • Strott CA: Sulfonation and molecular action. Endocr Rev 2002;23:703-732.
    • (2002) Endocr Rev , vol.23 , pp. 703-732
    • Strott, C.A.1
  • 177
    • 0142074270 scopus 로고    scopus 로고
    • Cholesterol sulfate in human physiology. What's it all about?
    • Strott CA, Higashi Y: Cholesterol sulfate in human physiology: What's it all about? J Lipid Res 2003;44: 1268-1278.
    • (2003) J Lipid Res , vol.44 , pp. 1268-1278
    • Strott, C.A.1    Higashi, Y.2
  • 178
    • 0036947367 scopus 로고    scopus 로고
    • Protein kinase C eta (PKC eta): Its involvement in keratinocyte differentiation
    • Kashiwagi M, Ohba M, Chida K, Kuroki T: Protein kinase C eta (PKC eta): Its involvement in keratinocyte differentiation. J Biochem (Tokyo) 2002;132: 853-857.
    • (2002) J Biochem (Tokyo) , vol.132 , pp. 853-857
    • Kashiwagi, M.1    Ohba, M.2    Chida, K.3    Kuroki, T.4
  • 180
    • 0028030477 scopus 로고
    • Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C
    • Ikuta T, Chida K, Tajima O, et al: Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C. Cell Growth Differ 1994;5:943-947.
    • (1994) Cell Growth Differ , vol.5 , pp. 943-947
    • Ikuta, T.1    Chida, K.2    Tajima, O.3
  • 181
    • 19244382178 scopus 로고    scopus 로고
    • Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: A review
    • Kuroki T, Ikuta T, Kashiwagi M, et al: Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: A review. Mutat Res 2000;462:189-195.
    • (2000) Mutat Res , vol.462 , pp. 189-195
    • Kuroki, T.1    Ikuta, T.2    Kashiwagi, M.3
  • 182
    • 0032448266 scopus 로고    scopus 로고
    • Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes
    • Kawabe S, Ikuta T, Ohba M, et al: 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
  • 183
    • 0035064912 scopus 로고    scopus 로고
    • Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D
    • Hanley K, Wood L, Ng DC, et al: Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D. J Lipid Res 2001;42:390-398.
    • (2001) J Lipid Res , vol.42 , pp. 390-398
    • Hanley, K.1    Wood, L.2    Ng, D.C.3
  • 184
    • 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
  • 185
    • 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
    • (1981) J Clin Invest , vol.68 , pp. 1404-1410
    • Williams, M.L.1    Elias, P.M.2
  • 186
  • 188
    • 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
  • 189
    • 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
  • 190
    • 0029030169 scopus 로고
    • Skin barrier properties in patients with recessive X-linked ichthyosis
    • Johansen JD, Ramsing D, Vejlsgaard G, Agner T: Skin barrier properties in patients with recessive X-linked ichthyosis. Acta Derm Venereol 1995;75: 202-204.
    • (1995) Acta Derm Venereol , vol.75 , pp. 202-204
    • Johansen, J.D.1    Ramsing, D.2    Vejlsgaard, G.3    Agner, T.4
  • 191
    • 0031737359 scopus 로고    scopus 로고
    • Recessive X-linked ichthyosis: Role of cholesterol-sulfate accumulation in the barrier abnormality
    • Zettersten E, Man MQ, Sato J, et al: Recessive X-linked ichthyosis: Role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol 1998;111:784-790.
    • (1998) J Invest Dermatol , vol.111 , pp. 784-790
    • Zettersten, E.1    Man, M.Q.2    Sato, J.3
  • 193
    • 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
  • 194
    • 0013993094 scopus 로고
    • The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation
    • Frost P, Weinstein GD, Van Scott EJ: The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation. J Invest Dermatol 1966;47: 561-567.
    • (1966) J Invest Dermatol , vol.47 , pp. 561-567
    • Frost, P.1    Weinstein, G.D.2    Van Scott, E.J.3
  • 195
    • 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
  • 196
    • 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
  • 197
    • 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
  • 198
    • 0041621569 scopus 로고    scopus 로고
    • PH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion
    • Hachem JP, Crumrine D, Fluhr J, Brown BE, Feingold KR, Elias PM: PH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion. J Invest Dermatol 2003;121:345-353.
    • (2003) J Invest Dermatol , vol.121 , pp. 345-353
    • Hachem, J.P.1    Crumrine, D.2    Fluhr, J.3    Brown, B.E.4    Feingold, K.R.5    Elias, P.M.6
  • 199
    • 4344587008 scopus 로고    scopus 로고
    • Increased stratum corneum pH promotes activation and release of primary cytokines from the stratum corneum attributable to activation of serine proteases
    • Hachem JP, Fowler A, Behne M, Fluhr J, Feingold K, Elias P: Increased stratum corneum pH promotes activation and release of primary cytokines from the stratum corneum attributable to activation of serine proteases. J Invest Dermatol 2002;119:258.
    • (2002) J Invest Dermatol , vol.119 , pp. 258
    • Hachem, J.P.1    Fowler, A.2    Behne, M.3    Fluhr, J.4    Feingold, K.5    Elias, P.6
  • 200
    • 75549083023 scopus 로고    scopus 로고
    • Acute acidification of stratum corneum membrane domains using polyhydroxyl acids improves lipid processing and inhibits degradation of corneodesmosomes
    • Hachem JP, Roelandt T, Schurer N, et al: Acute acidification of stratum corneum membrane domains using polyhydroxyl acids improves lipid processing and inhibits degradation of corneodesmosomes. J Invest Dermatol 20010;130:500-510.
    • (2010) J Invest Dermatol , vol.130 , pp. 500-510
    • Hachem, J.P.1    Roelandt, T.2    Schurer, N.3
  • 201
    • 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
  • 202
    • 0023103442 scopus 로고
    • Stratum corneum lipid liposomes: Calciuminduced transformation into lamellar sheets
    • Abraham W, Wertz PW, Landmann L, Downing DT: Stratum corneum lipid liposomes: Calciuminduced 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
  • 203
    • 0033547787 scopus 로고    scopus 로고
    • A new model system for lipid interactions in stratum corneum vesicles: Effects of lipid composition, calcium, and pH
    • Hatfield RM, Fung LW: A new model system for lipid interactions in stratum corneum vesicles: Effects of lipid composition, calcium, and pH. Biochemistry 1999;38:784-791.
    • (1999) Biochemistry , vol.38 , pp. 784-791
    • Hatfield, R.M.1    Fung, L.W.2
  • 204
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a 'simple' disorder
    • Sidransky E: Gaucher disease: Complexity in a 'simple' disorder. Mol Genet Metab 2004;83:6-15.
    • (2004) Mol Genet Metab , vol.83 , pp. 6-15
    • Sidransky, E.1
  • 205
    • 9044236528 scopus 로고    scopus 로고
    • Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease
    • Sidransky E, Fartasch M, Lee RE, et al: Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996;39: 134-141.
    • (1996) Pediatr Res , vol.39 , pp. 134-141
    • Sidransky, E.1    Fartasch, M.2    Lee, R.E.3
  • 207
    • 0027316078 scopus 로고
    • Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function
    • Holleran WM, Takagi Y, Menon GK, Legler G, Feingold KR, Elias PM: Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. J Clin Invest 1993;91:1656-1664.
    • (1993) J Clin Invest , vol.91 , pp. 1656-1664
    • Holleran, W.M.1    Takagi, Y.2    Menon, G.K.3    Legler, G.4    Feingold, K.R.5    Elias, P.M.6
  • 208
    • 0033832624 scopus 로고    scopus 로고
    • Permeability barrier disorder in Niemann-Pick disease: Sphingomyelin- ceramide processing required for normal barrier homeostasis
    • Schmuth M, Man MQ, Weber F, et al: Permeability barrier disorder in Niemann-Pick disease: Sphingomyelin- ceramide processing required for normal barrier homeostasis. J Invest Dermatol 2000;115: 459-466.
    • (2000) J Invest Dermatol , vol.115 , pp. 459-466
    • Schmuth, M.1    Man, M.Q.2    Weber, F.3
  • 209
    • 0005666422 scopus 로고    scopus 로고
    • Delayed epidermal permeability repair in patients with sphingomyelinase deficiency (Niemann-Pick disease)
    • Schmuth M, Weber F, Paschke E, Sepp N, Fritsch P: Delayed epidermal permeability repair in patients with sphingomyelinase deficiency (Niemann-Pick disease). J Invest Dermatol 1999;112:542.
    • (1999) J Invest Dermatol , vol.112 , pp. 542
    • Schmuth, M.1    Weber, F.2    Paschke, E.3    Sepp, N.4    Fritsch, P.5
  • 210
    • 0034526215 scopus 로고    scopus 로고
    • Epidermal sphingomyelins are precursors for selected stratum corneum ceramides
    • Uchida Y, Hara M, Nishio H, et al: Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. J Lipid Res 2000;41:2071-2082.
    • (2000) J Lipid Res , vol.41 , pp. 2071-2082
    • Uchida, Y.1    Hara, M.2    Nishio, H.3
  • 211
    • 0025955624 scopus 로고
    • Sphingolipids are required for mammalian epidermal barrier function: Inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation
    • Holleran WM, Man MQ, Gao WN, Menon GK, Elias PM, Feingold KR: Sphingolipids are required for mammalian epidermal barrier function: Inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation. J Clin Invest 1991;88: 1338-1345.
    • (1991) J Clin Invest , vol.88 , pp. 1338-1345
    • Holleran, W.M.1    Man, M.Q.2    Gao, W.N.3    Menon, G.K.4    Elias, P.M.5    Feingold, K.R.6
  • 212
    • 0028331151 scopus 로고
    • Consequences of beta-glucocerebrosidase deficiency in epidermis: Ultrastructure and permeability barrier alterations in Gaucher disease
    • Holleran WM, Ginns EI, Menon GK, et al: Consequences of beta-glucocerebrosidase deficiency in epidermis: Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994;93: 1756-1764.
    • (1994) J Clin Invest , vol.93 , pp. 1756-1764
    • Holleran, W.M.1    Ginns, E.I.2    Menon, G.K.3
  • 213
    • 0343415084 scopus 로고    scopus 로고
    • Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier
    • Jensen JM, Schutze S, Forl M, Kronke M, Proksch E: Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier. J Clin Invest 1999;104:1761-1770.
    • (1999) J Clin Invest , vol.104 , pp. 1761-1770
    • Jensen, J.M.1    Schutze, S.2    Forl, M.3    Kronke, M.4    Proksch, E.5
  • 214
    • 0029010643 scopus 로고
    • Glucosylceramides stimulate murine epidermal hyperproliferation
    • Marsh NL, Elias PM, Holleran WM: Glucosylceramides stimulate murine epidermal hyperproliferation. J Clin Invest 1995;95:2903-2909.
    • (1995) J Clin Invest , vol.95 , pp. 2903-2909
    • Marsh, N.L.1    Elias, P.M.2    Holleran, W.M.3
  • 215
    • 33845709000 scopus 로고    scopus 로고
    • Cellular uptake of fatty acids driven by the ER-localized acyl-CoA synthetase FATP4
    • Milger K, Herrmann T, Becker C, et al: Cellular uptake of fatty acids driven by the ER-localized acyl-CoA synthetase FATP4. J Cell Sci 2006;119: 4678-4688.
    • (2006) J Cell Sci , vol.119 , pp. 4678-4688
    • Milger, K.1    Herrmann, T.2    Becker, C.3
  • 216
    • 0031795578 scopus 로고    scopus 로고
    • Expression and regulation of mRNA for putative fatty acid transport related proteins and fatty acyl CoA synthase in murine epidermis and cultured human keratinocytes
    • Harris IR, Farrell AM, Memon RA, Grunfeld C, Elias PM, Feingold KR: Expression and regulation of mRNA for putative fatty acid transport related proteins and fatty acyl CoA synthase in murine epidermis and cultured human keratinocytes. J Invest Dermatol 1998;111:722-726.
    • (1998) J Invest Dermatol , vol.111 , pp. 722-726
    • Harris, I.R.1    Farrell, A.M.2    Memon, R.A.3    Grunfeld, C.4    Elias, P.M.5    Feingold, K.R.6
  • 218
    • 34547117903 scopus 로고    scopus 로고
    • Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts
    • Jia Z, Moulson CL, Pei Z, Miner JH, Watkins PA: Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts. J Biol Chem 2007;282:20573-20583.
    • (2007) J Biol Chem , vol.282 , pp. 20573-20583
    • Jia, Z.1    Moulson, C.L.2    Pei, Z.3    Miner, J.H.4    Watkins, P.A.5
  • 219
    • 0024194828 scopus 로고
    • Metabolism and function of skin lipids
    • Ziboh VA, Chapkin RS: Metabolism and function of skin lipids. Prog Lipid Res 1988;27:81-105.
    • (1988) Prog Lipid Res , vol.27 , pp. 81-105
    • Ziboh, V.A.1    Chapkin, R.S.2
  • 220
    • 0002381803 scopus 로고
    • Diagnostic ultrastructure of non-neoplastic diseases
    • in Papadimitriou J, Spagnolo D (eds): Edinburgh, Churchill Livingstone
    • Anton-Lamprecht I: Diagnostic ultrastructure of non-neoplastic diseases; in Papadimitriou J, Spagnolo D (eds): The Skin. Edinburgh, Churchill Livingstone, 1992, pp 459-550.
    • (1992) The Skin , pp. 459-550
    • Anton-Lamprecht, I.1
  • 221
    • 0027180936 scopus 로고
    • From basketweave to barrier: Unifying concepts for the pathogenesis of the disorders of cornification
    • Williams ML, Elias PM: From basketweave to barrier: Unifying concepts for the pathogenesis of the disorders of cornification. Arch Dermatol 1993;129: 626-629.
    • (1993) Arch Dermatol , vol.129 , pp. 626-629
    • Williams, M.L.1    Elias, P.M.2
  • 222
    • 0032779194 scopus 로고    scopus 로고
    • The pathogenesis of severe congenital ichthyosis of the neonate
    • Akiyama M: The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci 1999;21:96-104.
    • (1999) J Dermatol Sci , vol.21 , pp. 96-104
    • Akiyama, M.1
  • 223
    • 0023124882 scopus 로고
    • Genetically transmitted, generalized disorders of cornification - the ichthyoses
    • Williams ML, Elias PM: Genetically transmitted, generalized disorders of cornification - the ichthyoses. Dermatol Clin 1987;5:155-178.
    • (1987) Dermatol Clin , vol.5 , pp. 155-178
    • Williams, M.L.1    Elias, P.M.2
  • 224
    • 26844571576 scopus 로고    scopus 로고
    • Selection on heritable phenotypic plasticity in a wild bird population
    • Nussey DH, Postma E, Glenapp P, Visser ME: Selection on heritable phenotypic plasticity in a wild bird population. Science 2005;310:304-306.
    • (2005) Science , vol.310 , pp. 304-306
    • Nussey, D.H.1    Postma, E.2    Glenapp, P.3    Visser, M.E.4
  • 225
    • 22144437692 scopus 로고    scopus 로고
    • Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
    • Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al: Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005;115:1777-1784.
    • (2005) J Clin Invest , vol.115 , pp. 1777-1784
    • Akiyama, M.1    Sugiyama-Nakagiri, Y.2    Sakai, K.3
  • 226
    • 20244379129 scopus 로고    scopus 로고
    • Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
    • Kelsell DP, Norgett EE, Unsworth H, et al: Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76:794-803.
    • (2005) Am J Hum Genet , vol.76 , pp. 794-803
    • Kelsell, D.P.1    Norgett, E.E.2    Unsworth, H.3
  • 227
    • 35348853132 scopus 로고    scopus 로고
    • Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes
    • Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H: Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 2007;16:920-926.
    • (2007) Exp Dermatol , vol.16 , pp. 920-926
    • Sakai, K.1    Akiyama, M.2    Sugiyama-Nakagiri, Y.3    McMillan, J.R.4    Sawamura, D.5    Shimizu, H.6
  • 228
    • 33947154878 scopus 로고    scopus 로고
    • Structure of an ABC transporter in complex with its binding protein
    • Hollenstein K, Frei D, Locher K: Structure of an ABC transporter in complex with its binding protein. Nature 2007;446:213-216.
    • (2007) Nature , vol.446 , pp. 213-216
    • Hollenstein, K.1    Frei, D.2    Locher, K.3
  • 229
    • 0029820166 scopus 로고    scopus 로고
    • Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
    • Allikmets R, Gerrard B, Hutchinson A, Dean M: Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database. Hum Mol Genet 1996;5:1649-1655.
    • (1996) Hum Mol Genet , vol.5 , pp. 1649-1655
    • Allikmets, R.1    Gerrard, B.2    Hutchinson, A.3    Dean, M.4
  • 230
    • 0036074018 scopus 로고    scopus 로고
    • Mammalian ABC transporters in health and disease
    • Borst P, Elferink RO: Mammalian ABC transporters in health and disease. Annu Rev Biochem 2002;71: 537-592.
    • (2002) Annu Rev Biochem , vol.71 , pp. 537-592
    • Borst, P.1    Elferink, R.O.2
  • 231
    • 0034917716 scopus 로고    scopus 로고
    • The human ATPbinding cassette (ABC) transporter superfamily
    • Dean M, Rzhetsky A, Allikmets R: The human ATPbinding cassette (ABC) transporter superfamily. Genome Res 2001;11:1156-1166.
    • (2001) Genome Res , vol.11 , pp. 1156-1166
    • Dean, M.1    Rzhetsky, A.2    Allikmets, R.3
  • 232
    • 37049024066 scopus 로고    scopus 로고
    • PPAR and LXR activators regulate ABCA12 expression in human keratinocytes
    • Jiang YJ, Lu B, Kim P, et al: PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. J Invest Dermatol 2008;128:104-109.
    • (2008) J Invest Dermatol , vol.128 , pp. 104-109
    • Jiang, Y.J.1    Lu, B.2    Kim, P.3
  • 233
    • 33750058304 scopus 로고    scopus 로고
    • ABCA12 is the major harlequin ichthyosis gene
    • Thomas AC, Cullup T, Norgett EE, et al: ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 2006;126:2408-2413.
    • (2006) J Invest Dermatol , vol.126 , pp. 2408-2413
    • Thomas, A.C.1    Cullup, T.2    Norgett, E.E.3
  • 234
    • 0033781690 scopus 로고    scopus 로고
    • Origin of the corneocyte lipid envelope (CLE): Observations in harlequin ichthyosis and cultured human keratinocytes
    • Elias PM, Fartasch M, Crumrine D, Behne M, Uchida Y, Holleran WM: Origin of the corneocyte lipid envelope (CLE): Observations in harlequin ichthyosis and cultured human keratinocytes. J Invest Dermatol 2000;115:765-769.
    • (2000) J Invest Dermatol , vol.115 , pp. 765-769
    • Elias, P.M.1    Fartasch, M.2    Crumrine, D.3    Behne, M.4    Uchida, Y.5    Holleran, W.M.6
  • 235
    • 34547700861 scopus 로고    scopus 로고
    • Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis
    • Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, et al: Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol 2007;171:43-52.
    • (2007) Am J Pathol , vol.171 , pp. 43-52
    • Yamanaka, Y.1    Akiyama, M.2    Sugiyama-Nakagiri, Y.3
  • 236
    • 0025020601 scopus 로고
    • Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: Variable morphology and structural protein expression and a defect in lamellar granules
    • Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP: Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: Variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol 1990;94:6-18.
    • (1990) J Invest Dermatol , vol.94 , pp. 6-18
    • Dale, B.A.1    Holbrook, K.A.2    Fleckman, P.3    Kimball, J.R.4    Brumbaugh, S.5    Sybert, V.P.6
  • 238
    • 42749095307 scopus 로고    scopus 로고
    • On the effects of topical synthetic pseudoceramides: Comparison of possible keratinocyte toxicities provoked by the pseudoceramides, PC104 and BIO391, and natural ceramides
    • Uchida Y, Holleran WM, Elias PM: On the effects of topical synthetic pseudoceramides: Comparison of possible keratinocyte toxicities provoked by the pseudoceramides, PC104 and BIO391, and natural ceramides. J Dermatol Sci 2008;51:37-43.
    • (2008) J Dermatol Sci , vol.51 , pp. 37-43
    • Uchida, Y.1    Holleran, W.M.2    Elias, P.M.3
  • 239
    • 0031918432 scopus 로고    scopus 로고
    • Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: Case report
    • Choate KA, Williams ML, Elias PM, Khavari PA: Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: Case report. J Am Acad Dermatol 1998;38:325-329.
    • (1998) J Am Acad Dermatol , vol.38 , pp. 325-329
    • Choate, K.A.1    Williams, M.L.2    Elias, P.M.3    Khavari, P.A.4
  • 240
    • 0030923001 scopus 로고    scopus 로고
    • Microwave incubation improves lipolytic enzyme preservation for ultrastructural cytochemistry
    • Rassner UA, Crumrine DA, Nau P, Elias PM: Microwave incubation improves lipolytic enzyme preservation for ultrastructural cytochemistry. Histochem J 1997;29:387-392.
    • (1997) Histochem J , vol.29 , pp. 387-392
    • Rassner, U.A.1    Crumrine, D.A.2    Nau, P.3    Elias, P.M.4
  • 242
    • 2442428082 scopus 로고    scopus 로고
    • Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7
    • Caubet C, Jonca N, Brattsand M, et al: Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol 2004;122:1235-1244.
    • (2004) J Invest Dermatol , vol.122 , pp. 1235-1244
    • Caubet, C.1    Jonca, N.2    Brattsand, M.3
  • 243
    • 0032849966 scopus 로고    scopus 로고
    • Role of endogenous cathepsin D-like and chymotrypsin- like proteolysis in human epidermal desquamation
    • Horikoshi T, Igarashi S, Uchiwa H, Brysk H, Brysk MM: Role of endogenous cathepsin D-like and chymotrypsin- like proteolysis in human epidermal desquamation. Br J Dermatol 1999;141:453-459.
    • (1999) Br J Dermatol , vol.141 , pp. 453-459
    • Horikoshi, T.1    Igarashi, S.2    Uchiwa, H.3    Brysk, H.4    Brysk, M.M.5
  • 244
    • 12344301866 scopus 로고    scopus 로고
    • Epidermal differentiation: The role of proteases and their inhibitors
    • Zeeuwen PL: Epidermal differentiation: The role of proteases and their inhibitors. Eur J Cell Biol 2004; 83:761-773.
    • (2004) Eur J Cell Biol , vol.83 , pp. 761-773
    • Zeeuwen, P.L.1
  • 245
    • 22544448096 scopus 로고    scopus 로고
    • A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
    • Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, et al: A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet 2005; 77:242-251.
    • (2005) Am J Hum Genet , vol.77 , pp. 242-251
    • Sprecher, E.1    Ishida-Yamamoto, A.2    Mizrahi-Koren, M.3
  • 246
    • 12944331128 scopus 로고    scopus 로고
    • An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
    • Saba TG, Montpetit A, Verner A, et al: An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. Hum Genet 2005;116:167-171.
    • (2005) Hum Genet , vol.116 , pp. 167-171
    • Saba, T.G.1    Montpetit, A.2    Verner, A.3
  • 247
    • 58149152976 scopus 로고    scopus 로고
    • Disruption of AP1S1 causing a novel neurocutaneous syndrome perturbs development of the skin and spinal cord
    • Montpetit A, Cote S, Brustein E, et al: Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet 2008;4:e1000296.
    • (2008) PLoS Genet , vol.4
    • Montpetit, A.1    Cote, S.2    Brustein, E.3
  • 248
    • 12144290067 scopus 로고    scopus 로고
    • Mutations in VPS33B, encoding a regulator of SNAREdependent membrane fusion, cause arthrogryposisrenal dysfunction-cholestasis (ARC) syndrome
    • Gissen P, Johnson CA, Morgan NV, et al: Mutations in VPS33B, encoding a regulator of SNAREdependent membrane fusion, cause arthrogryposisrenal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004;36:400-404.
    • (2004) Nat Genet , vol.36 , pp. 400-404
    • Gissen, P.1    Johnson, C.A.2    Morgan, N.V.3
  • 249
    • 41149116755 scopus 로고    scopus 로고
    • Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
    • Hershkovitz D, Mandel H, Ishida-Yamamoto A, et al: Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol 2008;144:334-340.
    • (2008) Arch Dermatol , vol.144 , pp. 334-340
    • Hershkovitz, D.1    Mandel, H.2    Ishida-Yamamoto, A.3
  • 250
    • 33748748371 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of ARC syndrome
    • Gissen P, Tee L, Johnson CA, et al: Clinical and molecular genetic features of ARC syndrome. Hum Genet 2006;120:396-409.
    • (2006) Hum Genet , vol.120 , pp. 396-409
    • Gissen, P.1    Tee, L.2    Johnson, C.A.3
  • 251
    • 0030880934 scopus 로고    scopus 로고
    • Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome (ARCC-NDI)?
    • Coleman RA, Van Hove JL, Morris CR, Rhoads JM, Summar ML: Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome (ARCC-NDI)? Am J Med Genet 1997;72:335-338.
    • (1997) Am J Med Genet , vol.72 , pp. 335-338
    • Coleman, R.A.1    Van Hove, J.L.2    Morris, C.R.3    Rhoads, J.M.4    Summar, M.L.5
  • 252
    • 0025184450 scopus 로고
    • Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - a new syndrome
    • Deal JE, Barratt TM, Dillon MJ: Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - a new syndrome. Pediatr Nephrol 1990;4:308-313.
    • (1990) Pediatr Nephrol , vol.4 , pp. 308-313
    • Deal, J.E.1    Barratt, T.M.2    Dillon, M.J.3
  • 254
    • 0032466810 scopus 로고    scopus 로고
    • The secretory granular cell: The outermost granular cell as a specialized secretory cell
    • Elias PM, Cullander C, Mauro T, et al: The secretory granular cell: The outermost granular cell as a specialized secretory cell. J Invest Dermatol Symp Proc 1998;3:87-100.
    • (1998) J Invest Dermatol Symp Proc , vol.3 , pp. 87-100
    • Elias, P.M.1    Cullander, C.2    Mauro, T.3
  • 255
    • 0033794696 scopus 로고    scopus 로고
    • Membrane localization and biological activity of SNAP-25 cysteine mutants in insulin-secreting cells
    • Gonelle-Gispert C, Molinete M, Halban PA, Sadoul K: Membrane localization and biological activity of SNAP-25 cysteine mutants in insulin-secreting cells. J Cell Sci 2000;113:3197-3205.
    • (2000) J Cell Sci , vol.113 , pp. 3197-3205
    • Gonelle-Gispert, C.1    Molinete, M.2    Halban, P.A.3    Sadoul, K.4
  • 256
    • 0036624735 scopus 로고    scopus 로고
    • Subcellular distribution of 3 functional platelet SNARE proteins: Human cellubrevin, SNAP- 23, and syntaxin 2
    • Feng D, Crane K, Rozenvayn N, Dvorak AM, Flaumenhaft R: Subcellular distribution of 3 functional platelet SNARE proteins: Human cellubrevin, SNAP- 23, and syntaxin 2. Blood 2002;99:4006-4014.
    • (2002) Blood , vol.99 , pp. 4006-4014
    • Feng, D.1    Crane, K.2    Rozenvayn, N.3    Dvorak, A.M.4    Flaumenhaft, R.5
  • 257
    • 0032545419 scopus 로고    scopus 로고
    • Three novel proteins of the syntaxin/SNAP-25 family
    • Steegmaier M, Yang B, Yoo JS, et al: Three novel proteins of the syntaxin/SNAP-25 family. J Biol Chem 1998;273:34171-34179.
    • (1998) J Biol Chem , vol.273 , pp. 34171-34179
    • Steegmaier, M.1    Yang, B.2    Yoo, J.S.3
  • 258
    • 0034120279 scopus 로고    scopus 로고
    • A proline-rich region and nearby cysteine residues target XLalphas to the Golgi complex region
    • Ugur O, Jones TL: A proline-rich region and nearby cysteine residues target XLalphas to the Golgi complex region. Mol Biol Cell 2000;11:1421-1432.
    • (2000) Mol Biol Cell , vol.11 , pp. 1421-1432
    • Ugur, O.1    Jones, T.L.2
  • 260
    • 0001187825 scopus 로고    scopus 로고
    • GS32 a novel Golgi SNARE of 32 kDa interacts preferentially with syntaxin 6
    • Wong SH, Xu Y, Zhang T, et al: GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6. Mol Biol Cell 1999;10:119-134.
    • (1999) Mol Biol Cell , vol.10 , pp. 119-134
    • Wong, S.H.1    Xu, Y.2    Zhang, T.3
  • 261
    • 0034919315 scopus 로고    scopus 로고
    • SNAREs during development
    • Hepp R, Langley K: SNAREs during development. Cell Tissue Res 2001;305:247-253.
    • (2001) Cell Tissue Res , vol.305 , pp. 247-253
    • Hepp, R.1    Langley, K.2


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