메뉴 건너뛰기




Volumn 174, Issue 3, 2009, Pages 970-978

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in harlequin ichthyosis

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CATHEPSIN D; KALLIKREIN 5; PROTEIN ABCA12; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

EID: 62549139602     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2009.080860     Document Type: Article
Times cited : (51)

References (34)
  • 5
    • 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, Cohen SP, Crumrine D, Elias PM, Williams ML: 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    Cohen, S.P.4    Crumrine, D.5    Elias, P.M.6    Williams, M.L.7
  • 12
    • 42949178186 scopus 로고    scopus 로고
    • Thematic review series: Skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology
    • Schmuth M, Jiang YJ, Dubrac S, Elias PM, Feingold KR: Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology. J Lipid Res 2008, 49:499-509
    • (2008) J Lipid Res , vol.49 , pp. 499-509
    • Schmuth, M.1    Jiang, Y.J.2    Dubrac, S.3    Elias, P.M.4    Feingold, K.R.5
  • 14
    • 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
  • 15
    • 0030751058 scopus 로고    scopus 로고
    • Collodion baby: Ultrastructure and distribution of cornified cell envelope proteins and keratins
    • Akiyama M, Shimizu H, Yoneda K, Nishikawa T: Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 1997, 195:164-168
    • (1997) Dermatology , vol.195 , pp. 164-168
    • Akiyama, M.1    Shimizu, H.2    Yoneda, K.3    Nishikawa, T.4
  • 16
    • 52949098786 scopus 로고    scopus 로고
    • Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
    • Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H: Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 2008, 17:3075-3083
    • (2008) Hum Mol Genet , vol.17 , pp. 3075-3083
    • Yanagi, T.1    Akiyama, M.2    Nishihara, H.3    Sakai, K.4    Nishie, W.5    Tanaka, S.6    Shimizu, H.7
  • 18
    • 0028881133 scopus 로고
    • Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients
    • Morley SM, Dundas S, James J, Brown RA, Sexton C, Navsaria HA, Leigh IM, Lane EB: Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. J Cell Sci 1995, 108:3463-3471
    • (1995) J Cell Sci , vol.108 , pp. 3463-3471
    • Morley, S.M.1    Dundas, S.2    James, J.3    Brown, R.A.4    Sexton, C.5    Navsaria, H.A.6    Leigh, I.M.7    Lane, E.B.8
  • 19
    • 0034905864 scopus 로고    scopus 로고
    • In vitro characterization of an artificial dermal scaffold
    • Ojeh NO, Frame JD, Navsaria HA: In vitro characterization of an artificial dermal scaffold. Tissue Eng 2001, 7:457-472
    • (2001) Tissue Eng , vol.7 , pp. 457-472
    • Ojeh, N.O.1    Frame, J.D.2    Navsaria, H.A.3
  • 21
    • 0019891490 scopus 로고
    • Calcium induction of transglutaminase and the formation of epsilon(gamma-glutamyl) lysine crosslinks in cultured mouse epidermal cells
    • Hennings H, Steinert P, Buxman MM: Calcium induction of transglutaminase and the formation of epsilon(gamma-glutamyl) lysine crosslinks in cultured mouse epidermal cells. Biochem Biophys Res Commun 1981, 102:739-745
    • (1981) Biochem Biophys Res Commun , vol.102 , pp. 739-745
    • Hennings, H.1    Steinert, P.2    Buxman, M.M.3
  • 22
    • 0031018386 scopus 로고    scopus 로고
    • Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation
    • Presland RB, Kimball JR, Kautsky MB, Lewis SP, Lo CY, Dale BA: Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation. J Invest Dermatol 1997, 108:170-178
    • (1997) J Invest Dermatol , vol.108 , pp. 170-178
    • Presland, R.B.1    Kimball, J.R.2    Kautsky, M.B.3    Lewis, S.P.4    Lo, C.Y.5    Dale, B.A.6
  • 24
    • 0036038643 scopus 로고    scopus 로고
    • Human epidermal glucosylceramides are major precursors of stratum corneum ceramides
    • Hamanaka S, Hara M, Nishio H, Otsuka F, Suzuki A, Uchida Y: Human epidermal glucosylceramides are major precursors of stratum corneum ceramides. J Invest Dermatol 2002, 119:416-423
    • (2002) J Invest Dermatol , vol.119 , pp. 416-423
    • Hamanaka, S.1    Hara, M.2    Nishio, H.3    Otsuka, F.4    Suzuki, A.5    Uchida, Y.6
  • 25
    • 0029015329 scopus 로고
    • Evidence that stratum corneum chymotryptic enzyme is transported to the stratum corneum extracellular space via lamellar bodies
    • Sondell B, Thornell LE, Egelrud T: Evidence that stratum corneum chymotryptic enzyme is transported to the stratum corneum extracellular space via lamellar bodies. J Invest Dermatol 1995, 104:819-823
    • (1995) J Invest Dermatol , vol.104 , pp. 819-823
    • Sondell, B.1    Thornell, L.E.2    Egelrud, T.3
  • 26
    • 0035827559 scopus 로고    scopus 로고
    • Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
    • Simon M, Jonca N, Guerrin M, Haftek M, Bernard D, Caubet C, Egelrud T, Schmidt R, Serre G: Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001, 276:20292-20299
    • (2001) J Biol Chem , vol.276 , pp. 20292-20299
    • Simon, M.1    Jonca, N.2    Guerrin, M.3    Haftek, M.4    Bernard, D.5    Caubet, C.6    Egelrud, T.7    Schmidt, R.8    Serre, G.9
  • 32
    • 0344927562 scopus 로고    scopus 로고
    • Conjugate export pumps of the multidrug resistance protein (MRP) family: Localization, substrate specificity, and MRP2-mediated drug resistance
    • König J, Nies AT, Cui Y, Leier I, Keppler D: Conjugate export pumps of the multidrug resistance protein (MRP) family: localization, substrate specificity, and MRP2-mediated drug resistance. Biochim Biophys Acta 1999, 1461:377-394
    • (1999) Biochim Biophys Acta , vol.1461 , pp. 377-394
    • König, J.1    Nies, A.T.2    Cui, Y.3    Leier, I.4    Keppler, D.5
  • 33
    • 0031862812 scopus 로고    scopus 로고
    • Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses
    • Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA: Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 1998, 18:425-436
    • (1998) Prenat Diagn , vol.18 , pp. 425-436
    • Akiyama, M.1    Dale, B.A.2    Smith, L.T.3    Shimizu, H.4    Holbrook, K.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.