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Volumn 46, Issue 2, 2014, Pages 49-61

Inherited blistering skin diseases: Underlying molecular mechanisms and emerging therapies

Author keywords

Blister; Epidermolysis bullosa; Erosion; Mutation; Skin

Indexed keywords

ALPHA3 INTEGRIN; ALPHA6BETA4 INTEGRIN; BULLOUS PEMPHIGOID ANTIGEN 1; CD151 ANTIGEN; COLLAGEN TYPE 17; COLLAGEN TYPE 7; CORNEODESMOSIN; CYTOKERATIN 1; CYTOKERATIN 10; CYTOKERATIN 14; CYTOKERATIN 5; DESMOCOLLIN; DESMOGLEIN 1; DESMOPLAKIN; EXOPHILIN 5; KALININ; KINDLIN; PLAKOGLOBIN; PLAKOPHILIN; PLECTIN; PROTEIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

EID: 84893245308     PISSN: 07853890     EISSN: 13652060     Source Type: Journal    
DOI: 10.3109/07853890.2013.866441     Document Type: Review
Times cited : (11)

References (138)
  • 1
    • 80051983081 scopus 로고    scopus 로고
    • Deconstructing the skin: Cytoarchi-tectural determinants of epidermal morphogenesis
    • Simpson CL, Patel DM, Green KJ. Deconstructing the skin: cytoarchi-tectural determinants of epidermal morphogenesis. Nat Rev Mol Cell Biol. 2011;12:565-80.
    • (2011) Nat Rev Mol Cell Biol , vol.12 , pp. 565-580
    • Simpson, C.L.1    Patel, D.M.2    Green, K.J.3
  • 3
    • 79952705436 scopus 로고    scopus 로고
    • Hemidesmosomes and focal contact proteins: Functions and cross-talk in keratinoc-ytes, bullous diseases and wound healing; Functions
    • Tsuruta D, Hashimoto T, Hamill KJ, Jones JC. Hemidesmosomes and focal contact proteins: functions and cross-talk in keratinoc-ytes, bullous diseases and wound healing; ; Dermatol Sci. 2011; 62: 1-7.
    • (2011) Dermatol Sci , vol.62 , pp. 1-7
    • Tsuruta, D.1    Hashimoto, T.2    Hamill, K.J.3    Jones, J.C.4
  • 6
    • 84884396866 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa research: Summary of DEBRA International Research Conference 2012
    • Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Progress in epidermolysis bullosa research: Summary of DEBRA International Research Conference 2012. J Invest Dermatol. 2013;133:2121-6.
    • (2013) J Invest Dermatol , vol.133 , pp. 2121-2126
    • Bruckner-Tuderman, L.1    McGrath, J.A.2    Robinson, E.C.3    Uitto, J.4
  • 7
    • 0000010578 scopus 로고
    • Studies on the pathogenesis of epidermolysis bullosa
    • Pearson RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962; 39: 551-75.
    • (1962) J Invest Dermatol , vol.39 , pp. 551-575
    • Pearson, R.W.1
  • 8
    • 34347374872 scopus 로고    scopus 로고
    • Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm
    • Kim S, Coulombe PA. Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm. Genes Dev. 2007;21:1581-97.
    • (2007) Genes Dev , vol.21 , pp. 1581-1597
    • Kim, S.1    Coulombe, P.A.2
  • 9
    • 77749315803 scopus 로고    scopus 로고
    • The epidermal Ca(2+) gradient: Measurement using the phasor representation of fluorescent lifetime imaging
    • Celli A, Sanchez S, Behne M, Hazlett T, Gratton E, Mauro T. The epidermal Ca(2+) gradient: measurement using the phasor representation of fluorescent lifetime imaging. Biophys J. 2010;98:911-21.
    • (2010) Biophys J. , vol.98 , pp. 911-921
    • Celli, A.1    Sanchez, S.2    Behne, M.3    Hazlett, T.4    Gratton, E.5    Mauro, T.6
  • 10
    • 84862776648 scopus 로고    scopus 로고
    • Defining keratin protein function in skin epi-thelia: Epidermolysis bullosa simplex and its aftermath
    • Coulombe PA, Lee CH. Defining keratin protein function in skin epi-thelia: epidermolysis bullosa simplex and its aftermath. J Invest Dermatol. 2012;132:763-75.
    • (2012) J Invest Dermatol , vol.132 , pp. 763-775
    • Coulombe, P.A.1    Lee, C.H.2
  • 11
    • 83155181586 scopus 로고    scopus 로고
    • Keratin disorders: From gene to therapy
    • McLean WH, Moore CB. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011;20:R189-97.
    • (2011) Hum Mol Genet. , vol.20
    • McLean, W.H.1    Moore, C.B.2
  • 12
    • 70450257827 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex
    • Sprecher E. Epidermolysis bullosa simplex. Dermatol Clin. 2010; 28: 23-32.
    • (2010) Dermatol Clin , vol.28 , pp. 23-32
    • Sprecher, E.1
  • 13
    • 70450263531 scopus 로고    scopus 로고
    • Plectin gene defects lead to various forms of epidermolysis bullosa simplex
    • Rezniczek GA, Walko G, Wiche G. Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Dermatol Clin. 2010;28: 33-41.
    • (2010) Dermatol Clin , vol.28 , pp. 33-41
    • Rezniczek, G.A.1    Walko, G.2    Wiche, G.3
  • 14
    • 84872350268 scopus 로고    scopus 로고
    • Hie many faces of plectin and plectinopathies: Pathology and mechanisms
    • Winter L, Wiche G. Hie many faces of plectin and plectinopathies: pathology and mechanisms. Acta Neuropathol. 2013;125:77-93.
    • (2013) Acta Neuropathol , vol.125 , pp. 77-93
    • Winter, L.1    Wiche, G.2
  • 15
    • 9444272226 scopus 로고    scopus 로고
    • Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization
    • McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996; 10:1724-35.
    • (1996) Genes Dev , vol.10 , pp. 1724-1735
    • McLean, W.H.1    Pulkkinen, L.2    Smith, F.J.3    Rugg, E.L.4    Lane, E.B.5    Bullrich, F.6
  • 19
    • 84861551889 scopus 로고    scopus 로고
    • A6p4 Integrin, a master regulator of expression of integrins in human keratinocytes
    • Kligys KR, Wu Y, Hopkinson SB, Kaur S, Platanias LC, Jones JC. a6p4 Integrin, a master regulator of expression of integrins in human keratinocytes. J Biol Chem. 2012;287:17975-84.
    • (2012) J Biol Chem , vol.287 , pp. 17975-17984
    • Kligys, K.R.1    Wu, Y.2    Hopkinson, S.B.3    Kaur, S.4    Platanias, L.C.5    Jones, J.C.6
  • 20
    • 78649867535 scopus 로고    scopus 로고
    • Unique and redundant functions of integrins in the epidermis
    • Margadant C, Charafeddine RA, Sonnenberg A. Unique and redundant functions of integrins in the epidermis. FASEB J. 2010; 24:4133-52.
    • (2010) FASEB J , vol.24 , pp. 4133-4152
    • Margadant, C.1    Charafeddine, R.A.2    Sonnenberg, A.3
  • 21
    • 70450235277 scopus 로고    scopus 로고
    • Type VII collagen: The anchoring fibril protein at fault in dystrophic epidermolysis bullosa
    • Chung HJ, Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin. 2010; 28: 93-105.
    • (2010) Dermatol Clin , vol.28 , pp. 93-105
    • Chung, H.J.1    Uitto, J.2
  • 22
    • 0035114108 scopus 로고    scopus 로고
    • Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia
    • Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol. 2001;144:408-14.
    • (2001) Br J Dermatol , vol.144 , pp. 408-414
    • Ashton, G.H.1    Sorelli, P.2    Mellerio, J.E.3    Keane, F.M.4    Eady, R.A.5    McGrath, J.A.6
  • 23
    • 0034068641 scopus 로고    scopus 로고
    • A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
    • Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, et al. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol. 2000;114:1061-4.
    • (2000) J Invest Dermatol , vol.114 , pp. 1061-1064
    • Inoue, M.1    Tamai, K.2    Shimizu, H.3    Owaribe, K.4    Nakama, T.5    Hashimoto, T.6
  • 25
  • 27
    • 70450240957 scopus 로고    scopus 로고
    • Non-Herlitz junctional epidermolysis bullosa
    • Yancey KB, Hintner H. Non-Herlitz junctional epidermolysis bullosa. Dermatol Clin. 2010; 28: 67-77.
    • (2010) Dermatol Clin , vol.28 , pp. 67-77
    • Yancey, K.B.1    Hintner, H.2
  • 28
    • 10744230804 scopus 로고    scopus 로고
    • An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
    • McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho- cutaneous syndrome. Hum Mol Genet. 2003; 12: 2395-409.
    • (2003) Hum Mol Genet , vol.12 , pp. 2395-2409
    • McLean, W.H.1    Irvine, A.D.2    Hamill, K.J.3    Whittock, N.V.4    Coleman-Campbell, C.M.5    Mellerio, J.E.6
  • 29
    • 27144489971 scopus 로고    scopus 로고
    • Collagen XVII/ BP180: A collagenous transmembrane protein and component of the dermoepidermal anchoring complex
    • Powell AM, Sakuma-Oyama Y, Oyama N, Black MM. Collagen XVII/ BP180: a collagenous transmembrane protein and component of the dermoepidermal anchoring complex. Clin Exp Dermatol. 2005;30: 682-7.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 682-687
    • Powell, A.M.1    Sakuma-Oyama, Y.2    Oyama, N.3    Black, M.M.4
  • 30
    • 84872937506 scopus 로고    scopus 로고
    • Pemphigoid diseases
    • Schmidt E, Zillikens D. Pemphigoid diseases. Lancet. 2013; 381: 320-32.
    • (2013) Lancet , vol.381 , pp. 320-332
    • Schmidt, E.1    Zillikens, D.2
  • 31
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet. 1995; 11: 83-6.
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3    Li, K.4    Owaribe, K.5    McMillan, J.R.6
  • 32
    • 0029897474 scopus 로고    scopus 로고
    • Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
    • McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, et al. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol. 1996;148:1787-96.
    • (1996) Am J Pathol , vol.148 , pp. 1787-1796
    • McGrath, J.A.1    Gatalica, B.2    Li, K.3    Dunnill, M.G.4    McMillan, J.R.5    Christiano, A.M.6
  • 35
    • 0021721975 scopus 로고
    • Ultrastructural morphometry of normal human dermal-epidermal junction. The influence of age, sex, and body region on laminar and nonlaminar components
    • Tidman MJ, Eady RA. Ultrastructural morphometry of normal human dermal-epidermal junction. The influence of age, sex, and body region on laminar and nonlaminar components. J Invest Dermatol. 1984; 83: 448-53.
    • (1984) J Invest Dermatol , vol.83 , pp. 448-453
    • Tidman, M.J.1    Eady, R.A.2
  • 36
    • 0028954830 scopus 로고
    • Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
    • Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest. 1995; 95: 1328-34.
    • (1995) J Clin Invest , vol.95 , pp. 1328-1334
    • Christiano, A.M.1    Suga, Y.2    Greenspan, D.S.3    Ogawa, H.4    Uitto, J.5
  • 37
    • 68949094493 scopus 로고    scopus 로고
    • Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part I. Epithelial associated tissues
    • Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009; 61: 367-84.
    • (2009) J Am Acad Dermatol , vol.61 , pp. 367-384
    • Fine, J.D.1    Mellerio, J.E.2
  • 38
    • 0029918880 scopus 로고    scopus 로고
    • Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
    • Christiano AM, McGrath JA, Tan KC, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet. 1996;58:671-81.
    • (1996) Am J Hum Genet , vol.58 , pp. 671-681
    • Christiano, A.M.1    McGrath, J.A.2    Tan, K.C.3    Uitto, J.4
  • 39
    • 0028348553 scopus 로고
    • Dominant dystrophic epidermolysis bullosa: Identification of a Gly ser substitution in the triplehelical domain of type VII collagen
    • Christiano AM, Ryynanen M, Uitto J. Dominant dystrophic epidermolysis bullosa: identification of a Gly Ser substitution in the triplehelical domain of type VII collagen. Proc Natl Acad Sci USA. 1994;91:3549-53.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3549-3553
    • Christiano, A.M.1    Ryynanen, M.2    Uitto, J.3
  • 40
    • 70349312643 scopus 로고    scopus 로고
    • Hie Kindlin protein family: New members to the club of focal adhesion proteins
    • Meves A, Stremmel C, Gottschalk K, Fassler R. Hie Kindlin protein family: new members to the club of focal adhesion proteins. Trends Cell Biol. 2009; 19: 504-13.
    • (2009) Trends Cell Biol , vol.19 , pp. 504-513
    • Meves, A.1    Stremmel, C.2    Gottschalk, K.3    Fassler, R.4
  • 41
    • 77649181584 scopus 로고    scopus 로고
    • The role of kindlins in cell biology and relevance to human disease
    • Lai-Cheong JE, Parsons M, McGrath JA. The role of kindlins in cell biology and relevance to human disease. Int J Biochem Cell Biol. 2010;42:595-603.
    • (2010) Int J Biochem Cell Biol , vol.42 , pp. 595-603
    • Lai-Cheong, J.E.1    Parsons, M.2    McGrath, J.A.3
  • 42
    • 0242515916 scopus 로고    scopus 로고
    • Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
    • Jobard F, Bouadjar B, Caux F, Eladj-Rabia S, Has C, Matsuda F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet. 2003; 12: 925-35.
    • (2003) Hum Mol Genet , vol.12 , pp. 925-935
    • Jobard, F.1    Bouadjar, B.2    Caux, F.3    Eladj-Rabia, S.4    Has, C.5    Matsuda, F.6
  • 43
    • 0038389789 scopus 로고    scopus 로고
    • Loss of kindlin-1 a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112 causes Kindler syndrome
    • Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC; et al; Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003;73: 174-87.
    • (2003) Am J Hum Genet , vol.73 , pp. 174-187
    • Siegel, D.H.1    Ashton, G.H.2    Penagos, H.G.3    Lee, J.V.4    Feiler, H.S.5    Wilhelmsen, K.C.6
  • 45
    • 84875244884 scopus 로고    scopus 로고
    • Structure, function, and regulation of desmo-somes
    • Kowalczyk AP, Green KJ. Structure, function, and regulation of desmo-somes. Prog Mol Biol Transl Sci. 2013;116:95-118.
    • (2013) Prog Mol Biol Transl Sci , vol.116 , pp. 95-118
    • Kowalczyk, A.P.1    Green, K.J.2
  • 46
    • 84886747157 scopus 로고    scopus 로고
    • Desmosome assembly and dynamics
    • Nekrasova O, Green KJ. Desmosome assembly and dynamics. Trends Cell Biol. 2013;23:537-46.
    • (2013) Trends Cell Biol , vol.23 , pp. 537-546
    • Nekrasova, O.1    Green, K.J.2
  • 49
    • 33845383688 scopus 로고    scopus 로고
    • Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion?
    • Hatzfeld M. Plakophilins: multifunctional proteins or just regulators of desmosomal adhesion? Biochim Biophys Acta. 2007;1773:69-77.
    • (2007) Biochim Biophys Acta , vol.1773 , pp. 69-77
    • Hatzfeld, M.1
  • 50
    • 77956865308 scopus 로고    scopus 로고
    • A role of plakophilins in the regulation of translation
    • Wolf A, Hatzfeld M. A role of plakophilins in the regulation of translation. Cell Cycle. 2010; 9: 2973-8.
    • (2010) Cell Cycle , vol.9 , pp. 2973-2978
    • Wolf, A.1    Hatzfeld, M.2
  • 51
    • 39849097562 scopus 로고    scopus 로고
    • Desmosome structure, composition and function
    • Garrod D, Chidgey M. Desmosome structure, composition and function. Biochim Biophys Acta. 2008;1778:572-87.
    • (2008) Biochim Biophys Acta , vol.1778 , pp. 572-587
    • Garrod, D.1    Chidgey, M.2
  • 53
    • 84862767304 scopus 로고    scopus 로고
    • The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy
    • Rizzo S, Pilichou K, Theene G, Basso C. The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy. Cell Tissue Res. 2012;348:319-23.
    • (2012) Cell Tissue Res , vol.348 , pp. 319-323
    • Rizzo, S.1    Pilichou, K.2    Theene, G.3    Basso, C.4
  • 57
    • 77952431203 scopus 로고    scopus 로고
    • A homozygous nonsense mutation within the dys-tonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex
    • Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, et al. A homozygous nonsense mutation within the dys-tonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol. 2010;130:1551-7.
    • (2010) J Invest Dermatol , vol.130 , pp. 1551-1557
    • Groves, R.W.1    Liu, L.2    Dopping-Hepenstal, P.J.3    Markus, H.S.4    Lovell, P.A.5    Ozoemena, L.6
  • 59
    • 84893253134 scopus 로고    scopus 로고
    • BPAG1-e restricts keratinocyte migration through control of adhesion stability.
    • Sep 11 [Epub ahead of print]
    • Michael M, Begum R, Fong K, Pourreyrone C, South AP, McGrath JA, et al. BPAG1-e restricts keratinocyte migration through control of adhesion stability.; Invest Dermatol. 2013 Sep 11 [Epub ahead of print].
    • (2013) Invest Dermatol.
    • Michael, M.1    Begum, R.2    Fong, K.3    Pourreyrone, C.4    South, A.P.5    McGrath, J.A.6
  • 60
    • 0032493934 scopus 로고    scopus 로고
    • Novel roles for alpha3beta1 integrin as a regulator of cytoskeletal assembly and as a trans-dominant inhibitor of integrin receptor function in mouse keratinocytes
    • Hodivala-Dilke KM, DiPersio CM, Kreidberg JA, Hynes RO. Novel roles for alpha3beta1 integrin as a regulator of cytoskeletal assembly and as a trans-dominant inhibitor of integrin receptor function in mouse keratinocytes. J Cell Biol. 1998;142:1357-69.
    • (1998) J Cell Biol , vol.142 , pp. 1357-1369
    • Hodivala-Dilke, K.M.1    Dipersio, C.M.2    Kreidberg, J.A.3    Hynes, R.O.4
  • 62
    • 9244238200 scopus 로고    scopus 로고
    • Regulation of desmosome assembly and adhesion
    • Yin T, Green KJ. Regulation of desmosome assembly and adhesion. Semin Cell Dev Biol. 2004; 15: 665-77.
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 665-677
    • Yin, T.1    Green, K.J.2
  • 63
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhyth-mogenic right ventricular cardiomyopathy with palmoplantar kerato-derma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhyth-mogenic right ventricular cardiomyopathy with palmoplantar kerato-derma and woolly hair (Naxos disease). Lancet. 2000; 355: 2119-24.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3    Tsatsopoulou, A.4    Anastasakis, A.5    Coonar, A.6
  • 64
    • 79957479784 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: A review and update
    • Azaouagh A, Churzidse S, Konorza T, Erbel R. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol. 2011;100:383-94.
    • (2011) Clin Res Cardiol , vol.100 , pp. 383-394
    • Azaouagh, A.1    Churzidse, S.2    Konorza, T.3    Erbel, R.4
  • 65
    • 81255209231 scopus 로고    scopus 로고
    • Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy
    • Li D, Liu Y, Maruyama M, Zhu W, Chen H, Zhang W, et al. Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. Hum Mol Genet. 2011;20:4582-96.
    • (2011) Hum Mol Genet , vol.20 , pp. 4582-4596
    • Li, D.1    Liu, Y.2    Maruyama, M.3    Zhu, W.4    Chen, H.5    Zhang, W.6
  • 66
    • 62649095758 scopus 로고    scopus 로고
    • Acantholytic ectodermal dysplasia: Clinicopathological study of a new desmosomal disorder
    • Winik BC, Asial RA, McGrath JA, South AP, Boente MC. Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol. 2009;160:868-74.
    • (2009) Br J Dermatol , vol.160 , pp. 868-874
    • Winik, B.C.1    Asial, R.A.2    McGrath, J.A.3    South, A.P.4    Boente, M.C.5
  • 67
    • 77952420966 scopus 로고    scopus 로고
    • Homozygous mutations in the 5 region of the JUP gene result in cutaneous disease but normal heart development in children
    • Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, et al. Homozygous mutations in the 5 region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010;130:1543-50.
    • (2010) J Invest Dermatol , vol.130 , pp. 1543-1550
    • Cabral, R.M.1    Liu, L.2    Hogan, C.3    Dopping-Hepenstal, P.J.4    Winik, B.C.5    Asial, R.A.6
  • 68
    • 79954558531 scopus 로고    scopus 로고
    • Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity
    • Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 2011;20:1811-19.
    • (2011) Hum Mol Genet. , vol.20 , pp. 1811-1819
    • Pigors, M.1    Kiritsi, D.2    Krumpelmann, S.3    Wagner, N.4    He, Y.5    Podda, M.6
  • 69
    • 84870864024 scopus 로고    scopus 로고
    • Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility
    • McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, et al. Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility. Am J Hum Genet. 2012;91:1115-21.
    • (2012) Am J Hum Genet , vol.91 , pp. 1115-1121
    • McGrath, J.A.1    Stone, K.L.2    Begum, R.3    Simpson, M.A.4    Dopping-Hepenstal, P.J.5    Liu, L.6
  • 70
    • 68049105101 scopus 로고    scopus 로고
    • Rab GTPases as coordinators of vesicle traffic
    • Stenmark H. Rab GTPases as coordinators of vesicle traffic. Nat Rev Mol Cell Biol. 2009; 10: 513-25.
    • (2009) Nat Rev Mol Cell Biol , vol.10 , pp. 513-525
    • Stenmark, H.1
  • 73
    • 28144445201 scopus 로고    scopus 로고
    • A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
    • Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet. 2005; 77: 909-17.
    • (2005) Am J Hum Genet , vol.77 , pp. 909-917
    • Cassidy, A.J.1    Van Steensel, M.A.2    Steijlen, P.M.3    Van Geel, M.4    Van Der Velden, J.5    Morley, S.M.6
  • 74
    • 57349113228 scopus 로고    scopus 로고
    • Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells
    • Pietroni V, Di Giorgi S, Paradisi A, Ahvazi B, Candi E, Melino G. Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells. J Invest Dermatol. 2008;128:2760-6.
    • (2008) J Invest Dermatol , vol.128 , pp. 2760-2766
    • Pietroni, V.1    Di Giorgi, S.2    Paradisi, A.3    Ahvazi, B.4    Candi, E.5    Melino, G.6
  • 76
    • 77952425665 scopus 로고    scopus 로고
    • Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals
    • Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010;130:1741-6.
    • (2010) J Invest Dermatol , vol.130 , pp. 1741-1746
    • Kiritsi, D.1    Cosgarea, I.2    Franzke, C.W.3    Schumann, H.4    Oji, V.5    Kohlhase, J.6
  • 78
    • 53349175477 scopus 로고    scopus 로고
    • Loss of desmocollin 3 in mice leads to epidermal blistering
    • Chen J, Den Z, Koch PJ. Loss of desmocollin 3 in mice leads to epidermal blistering. J Cell Sci. 2008;121:2844-9.
    • (2008) J Cell Sci , vol.121 , pp. 2844-2849
    • Chen, J.1    Den Koch, Z.P.J.2
  • 79
    • 70350492104 scopus 로고    scopus 로고
    • A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
    • Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai, et al. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum genet. 2009; 85: 515-20.
    • (2009) Am J Hum Genet , vol.85 , pp. 515-520
    • Ayub, M.1    Basit, S.2    Jelani, M.3    Ur Rehman, F.4    Yasinzai, I.M.5
  • 80
    • 84875869664 scopus 로고    scopus 로고
    • Desmoglein-1, differentiation, and disease
    • Hammers CM, Stanley JR. Desmoglein-1, differentiation, and disease. J Clin Invest. 2013;123:1419-22.
    • (2013) J Clin Invest , vol.123 , pp. 1419-1422
    • Hammers, C.M.1    Stanley, J.R.2
  • 81
    • 84856909766 scopus 로고    scopus 로고
    • Desmoglein as a target in skin disease and beyond
    • Amagai M, Stanley JR. Desmoglein as a target in skin disease and beyond. J Invest Dermatol. 2012; 132: 776-84.
    • (2012) J Invest Dermatol , vol.132 , pp. 776-784
    • Amagai, M.1    Stanley, J.R.2
  • 82
    • 0032970153 scopus 로고    scopus 로고
    • N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
    • Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet. 1999 ;8: 971-6.
    • (1999) Hum Mol Genet , vol.8 , pp. 971-976
    • Rickman, L.1    Simrak, D.2    Stevens, H.P.3    Hunt, D.M.4    King, I.A.5    Bryant, S.P.6
  • 84
    • 84885019283 scopus 로고    scopus 로고
    • Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
    • Samuelov L, Sarig O, Harmon RM, Rapaport D, I shida-Yamamoto A, Isakov O, et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet. 2013;45:1244-8.
    • (2013) Nat Genet , vol.45 , pp. 1244-1248
    • Samuelov, L.1    Sarig, O.2    Harmon, R.M.3    Rapaport, D.4    Ishida-Yamamoto, A.5    Isakov, O.6
  • 85
    • 0037085257 scopus 로고    scopus 로고
    • Corneodesmosin, a component of epidermal corneocyte desmo-somes, displays homophilic adhesive properties
    • Jonca N, Guerrin M, Hadjiolova K, Caubet C, Gallinaro H, Simon M, et al. Corneodesmosin, a component of epidermal corneocyte desmo-somes, displays homophilic adhesive properties. J Biol Chem. 2002; 277: 5024-9.
    • (2002) J Biol Chem , vol.277 , pp. 5024-5029
    • Jonca, N.1    Guerrin, M.2    Hadjiolova, K.3    Caubet, C.4    Gallinaro, H.5    Simon, M.6
  • 86
    • 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, et al. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem. 2001;276:20292-9.
    • (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
  • 87
    • 0037941582 scopus 로고    scopus 로고
    • Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
    • Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin; Nat Genet. 2003; 34: 151-3.
    • (2003) Nat Genet , vol.34 , pp. 151-153
    • Levy-Nissenbaum, E.1    Betz, R.C.2    Frydman, M.3    Simon, M.4    Lahat, H.5    Bakhan, T.6
  • 88
    • 77955577355 scopus 로고    scopus 로고
    • Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease
    • Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet. 2010; 87: 274-81.
    • (2010) Am J Hum Genet , vol.87 , pp. 274-281
    • Oji, V.1    Eckl, K.M.2    Aufenvenne, K.3    Natebus, M.4    Tarinski, T.5    Ackermann, K.6
  • 89
    • 0034658462 scopus 로고    scopus 로고
    • The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes
    • Sterk LM, Geuijen CA, Oomen LC, Calafat J, Janssen H, Sonnenberg A. The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes. J Cell Biol. 2000; 149: 969-82.
    • (2000) J Cell Biol , vol.149 , pp. 969-982
    • Sterk, L.M.1    Geuijen, C.A.2    Oomen, L.C.3    Calafat, J.4    Janssen, H.5    Sonnenberg, A.6
  • 90
    • 0023936616 scopus 로고
    • Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease
    • Kagan A, Feld S, Chemke J, Bar-Khayim Y. Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. Nephron. 1988;49:331-2.
    • (1988) Nephron , vol.49 , pp. 331-332
    • Kagan, A.1    Feld, S.2    Chemke, J.3    Bar-Khayim, Y.4
  • 91
    • 4944239350 scopus 로고    scopus 로고
    • CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin
    • Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, et al. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin; Blood. 2004; 104; 2217-23.
    • (2004) Blood , vol.104 , pp. 2217-2223
    • Karamatic Crew, V.1    Burton, N.2    Kagan, A.3    Green, C.A.4    Levene, C.5    Flinter, F.6
  • 92
    • 79551487388 scopus 로고    scopus 로고
    • Expand -ing the keratin mutation database: Novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis
    • Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, et al. Expand -ing the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Br J Dermatol. 2011;164:442-7.
    • (2011) Br J Dermatol , vol.164 , pp. 442-447
    • Arin, M.J.1    Oji, V.2    Emmert, S.3    Hausser, I.4    Traupe, H.5    Krieg, T.6
  • 93
    • 77952700774 scopus 로고    scopus 로고
    • Revised nomenclature and classification of Soreze 2009. Inherited ichthyoses results of the First Ichthyosis Consensus Conference
    • Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of Soreze 2009. inherited ichthyoses: results of the First Ichthyosis Consensus Conference in J Am Acad Dermatol. 2010;63:607-41.
    • (2010) J Am Acad Dermatol , vol.63 , pp. 607-641
    • Oji, V.1    Tadini, G.2    Akiyama, M.3    Blanchet Bardon, C.4    Bodemer, C.5    Bourrat, E.6
  • 94
    • 34147095984 scopus 로고    scopus 로고
    • Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
    • Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181-92.
    • (2007) J Med Genet , vol.44 , pp. 181-192
    • Varki, R.1    Sadowski, S.2    Uitto, J.3    Pfendner, E.4
  • 96
    • 77952699551 scopus 로고    scopus 로고
    • Development and successful clinical application of preimplantation genetic haplo-typing for Herlitz junctional epidermolysis bullosa
    • Fassihi H, Liu L, Renwick PJ, Braude PR, McGrath JA. Development and successful clinical application of preimplantation genetic haplo-typing for Herlitz junctional epidermolysis bullosa. Br J Dermatol. 2010;162:1330-6.
    • (2010) Br J Dermatol , vol.162 , pp. 1330-1336
    • Fassihi, H.1    Liu, L.2    Renwick, P.J.3    Braude, P.R.4    McGrath, J.A.5
  • 98
    • 80052865748 scopus 로고    scopus 로고
    • Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex
    • Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, et al. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol. 2011;131:2079-86.
    • (2011) J Invest Dermatol , vol.131 , pp. 2079-2086
    • Atkinson, S.D.1    McGilligan, V.E.2    Liao, H.3    Szeverenyi, I.4    Smith, F.J.5    Moore, C.B.6
  • 100
    • 0043175257 scopus 로고    scopus 로고
    • Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases
    • Dallinger G, Puttaraju M, Mitchell LG, Yancey KB, Yee C, Klausegger A, et al. Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases. Exp Dermatol. 2003;12:37-46.
    • (2003) Exp Dermatol. , vol.12 , pp. 37-46
    • Dallinger, G.1    Puttaraju, M.2    Mitchell, L.G.3    Yancey, K.B.4    Yee, C.5    Klausegger, A.6
  • 102
    • 84880236346 scopus 로고    scopus 로고
    • Hie long and winding road that leads to a cure for epidermolysis bullosa
    • Carulli S, Contin R, De Rosa L, Pellegrini G, De Luca M. 'Hie long and winding road that leads to a cure for epidermolysis bullosa. Regen Med. 2013;8:467-81.
    • (2013) Regen Med , vol.8 , pp. 467-481
    • Carulli, S.1    Contin, R.2    De Rosa, L.3    Pellegrini, G.4    De Luca, M.5
  • 103
    • 33845524625 scopus 로고    scopus 로고
    • Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
    • Mavilio F, Pellegrini G, Ferrari S, Di Nunzio F, Di Iorio E, Recchia A, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006; 12: 1397-402.
    • (2006) Nat Med , vol.12 , pp. 1397-1402
    • Mavilio, F.1    Pellegrini, G.2    Ferrari, S.3    Di Nunzio, F.4    Di Iorio, E.5    Recchia, A.6
  • 105
    • 80051535219 scopus 로고    scopus 로고
    • Genome engineering with zinc-finger nucleases
    • Carroll D. Genome engineering with zinc-finger nucleases. Genetics. 2011;188:773-82.
    • (2011) Genetics , vol.188 , pp. 773-782
    • Carroll, D.1
  • 107
    • 58149250413 scopus 로고    scopus 로고
    • Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa
    • Remington J, Wang X, Hou Y, Zhou H, Burnett J, Muirhead T, et al. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther. 2009; 17: 26-33.
    • (2009) Mol Ther , vol.17 , pp. 26-33
    • Remington, J.1    Wang, X.2    Hou, Y.3    Zhou, H.4    Burnett, J.5    Muirhead, T.6
  • 108
    • 84879412500 scopus 로고    scopus 로고
    • Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa
    • Woodley DT, Wang X, Amir M, Hwang B, Remington J, Hou Y, et al. Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol. 2013; 133: 1910-13.
    • (2013) J Invest Dermatol. , vol.133 , pp. 1910-1913
    • Woodley, D.T.1    Wang, X.2    Amir, M.3    Hwang, B.4    Remington, J.5    Hou, Y.6
  • 109
    • 0033926582 scopus 로고    scopus 로고
    • Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy
    • Palazzi X, Marchal T, Chabanne L, Spadafora A, Magnol JP, Meneguzzi G. Inherited dystrophic epidermolysis bullosa in inbred dogs: a spontaneous animal model for somatic gene therapy. J Invest Dermatol. 2000; 115: 135-7.
    • (2000) J Invest Dermatol , vol.115 , pp. 135-137
    • Palazzi, X.1    Marchal, T.2    Chabanne, L.3    Spadafora, A.4    Magnol, J.P.5    Meneguzzi, G.6
  • 110
    • 84893216923 scopus 로고    scopus 로고
    • Epitope mapping of anti-type VII collagen antibodies in the patients with recessive dystrophic epidermolysis bullosa
    • Cogan J, Wang XY, Hou YP, Khilili M, Woodley DT, Chen M. Epitope mapping of anti-type VII collagen antibodies in the patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2013; 133: S45.
    • (2013) J Invest Dermatol , vol.133
    • Cogan, J.1    Wang, X.Y.2    Hou, Y.P.3    Khilili, M.4    Woodley, D.T.5    Chen, M.6
  • 112
    • 79960316706 scopus 로고    scopus 로고
    • HB-EGF induces COL7A1 expression in keratinoc-ytes and fibroblasts: Possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa
    • Nagy N, Almaani N, Tanaka A, Lai-Cheong JE, Techanukul T, Mellerio JE, et al. HB-EGF induces COL7A1 expression in keratinoc-ytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol. 2011;131:1771-4.
    • (2011) J Invest Dermatol , vol.131 , pp. 1771-1774
    • Nagy, N.1    Almaani, N.2    Tanaka, A.3    Lai-Cheong, J.E.4    Techanukul, T.5    Mellerio, J.E.6
  • 113
    • 43049093343 scopus 로고    scopus 로고
    • A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy
    • Fritsch A, Loeckermann S, Kern JS, Braun A, Bo si MR, Bley TA, et al. A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest. 2008; 118: 1669-79.
    • (2008) J Clin Invest , vol.118 , pp. 1669-1679
    • Fritsch, A.1    Loeckermann, S.2    Kern, J.S.3    Braun, A.4    Bosi, M.R.5    Bley, T.A.6
  • 114
    • 69949184884 scopus 로고    scopus 로고
    • Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: High stability of collagen VII favors long-term skin integrity
    • Kern JS, Loeckermann S, Fritsch A, Hausser I, Roth W, Magin TM, et al. Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol Ther. 2009; 17: 1605-15.
    • (2009) Mol Ther , vol.17 , pp. 1605-1615
    • Kern, J.S.1    Loeckermann, S.2    Fritsch, A.3    Hausser, I.4    Roth, W.5    Magin, T.M.6
  • 115
    • 84887998916 scopus 로고    scopus 로고
    • A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa
    • e7
    • Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, et al. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2013; 69: 898-908. e7.
    • (2013) J Am Acad Dermatol , vol.69 , pp. 898-908
    • Venugopal, S.S.1    Yan, W.2    Frew, J.W.3    Cohn, H.I.4    Rhodes, L.M.5    Tran, K.6
  • 116
    • 84887040998 scopus 로고    scopus 로고
    • Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: Results of a randomised, vehicle-controlled trial
    • Petrof G, Martinez-Queipo M, Mellerio JE, Kemp P, McGrath JA. Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomised, vehicle-controlled trial. Br J Dermatol. 2013;169:1025-33.
    • (2013) Br J Dermatol , vol.169 , pp. 1025-1033
    • Petrof, G.1    Martinez-Queipo, M.2    Mellerio, J.E.3    Kemp, P.4    McGrath, J.A.5
  • 117
    • 77950577869 scopus 로고    scopus 로고
    • Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa
    • Conget P, Rodriguez F, Kramer S, Allers C, Simon V, Palisson F, et al. Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy. 2010;12:429-31.
    • (2010) Cytotherapy , vol.12 , pp. 429-431
    • Conget, P.1    Rodriguez, F.2    Kramer, S.3    Allers, C.4    Simon, V.5    Palisson, F.6
  • 118
    • 79955619770 scopus 로고    scopus 로고
    • PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia
    • Tamai K, Yamazaki T, Chino T, Ishii M, Otsuru S, Kikuchi Y, et al. PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia; Proc Natl Acad Sci USA. 2011;108:6609-14.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 6609-6614
    • Tamai, K.1    Yamazaki, T.2    Chino, T.3    Ishii, M.4    Otsuru, S.5    Kikuchi, Y.6
  • 122
    • 79957595404 scopus 로고    scopus 로고
    • Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa
    • Tolar J, Blazar BR, Wagner JE. Concise review: transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells. 2011;29:900-6.
    • (2011) Stem Cells , vol.29 , pp. 900-906
    • Tolar, J.1    Blazar, B.R.2    Wagner, J.E.3
  • 123
    • 84884945700 scopus 로고    scopus 로고
    • Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: Repair of the extracellular matrix
    • Tolar J, Wagner JE. Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix. Lancet. 2013; 382: 1214-23.
    • (2013) Lancet , vol.382 , pp. 1214-1223
    • Tolar, J.1    Wagner, J.E.2
  • 124
    • 0030975365 scopus 로고    scopus 로고
    • Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
    • Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell. 1997;88:543-51.
    • (1997) Cell , vol.88 , pp. 543-551
    • Jonkman, M.F.1    Scheffer, H.2    Stulp, R.3    Pas, H.H.4    Nijenhuis, M.5    Heeres, K.6
  • 127
    • 84859770188 scopus 로고    scopus 로고
    • Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations
    • Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Invest Dermatol. 2012;132:1374-83.
    • (2012) J Invest Dermatol , vol.132 , pp. 1374-1383
    • Pasmooij, A.M.1    Nijenhuis, M.2    Brander, R.3    Jonkman, M.F.4
  • 128
    • 69949112900 scopus 로고    scopus 로고
    • Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy
    • Gostynski A, Deviaene FC, Pasmooij AM, Pas HH, Jonkman MF. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol. 2009;161:444-7.
    • (2009) Br J Dermatol , vol.161 , pp. 444-447
    • Gostynski, A.1    Deviaene, F.C.2    Pasmooij, A.M.3    Pas, H.H.4    Jonkman, M.F.5
  • 130
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007; 131: 861-72.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4    Ichisaka, T.5    Tomoda, K.6
  • 131
    • 84881256653 scopus 로고    scopus 로고
    • Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds
    • Hou P, Li Y, Liu C, Guan J, Li H, Zhao T, et al. Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds. Science. 2013;341:651-4.
    • (2013) Science , vol.341 , pp. 651-654
    • Hou, P.1    Li, Y.2    Liu, C.3    Guan, J.4    Li, H.5    Zhao, T.6
  • 132
    • 79952765436 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa
    • Tolar J, Xia L, Riddle MJ, Lees CJ, Eide CR, McElmurry RT, et al. Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2011 ;131: 848-56.
    • (2011) J Invest Dermatol , vol.131 , pp. 848-856
    • Tolar, J.1    Xia, L.2    Riddle, M.J.3    Lees, C.J.4    Eide, C.R.5    McElmurry, R.T.6
  • 133
    • 79957696056 scopus 로고    scopus 로고
    • Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells
    • Itoh M, Kiuru M, Cairo MS, Christiano AM. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci USA. 2011;108:8797-802.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 8797-8802
    • Itoh, M.1    Kiuru, M.2    Cairo, M.S.3    Christiano, A.M.4
  • 134
    • 84893252380 scopus 로고    scopus 로고
    • Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa
    • in press
    • Tolar J, McGrath JA, Xia L, Riddle M, Lees CJ, Eide C, et al. Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2014; in press.
    • (2014) J Invest Dermatol.
    • Tolar, J.1    McGrath, J.A.2    Xia, L.3    Riddle, M.4    Lees, C.J.5    Eide, C.6
  • 135
    • 84868199631 scopus 로고    scopus 로고
    • Sense from nonsense: Therapies for premature stop codon diseases
    • Bidou L, Allamand V, Rousset JP, Namy O. Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med. 2012;18:679-88.
    • (2012) Trends Mol Med , vol.18 , pp. 679-688
    • Bidou, L.1    Allamand, V.2    Rousset, J.P.3    Namy, O.4
  • 136
    • 84879354920 scopus 로고    scopus 로고
    • A read-through drug put through its paces
    • Roberts RG. A read-through drug put through its paces. PLoS Biol. 2013; 11: e1001458.
    • (2013) PLoS Biol , vol.11
    • Roberts, R.G.1
  • 137
    • 84887817786 scopus 로고    scopus 로고
    • Premature termination codon read-through in the abcc6 gene: Potential treatment for pseudoxanthoma elasticum
    • Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J. Premature termination codon read-through in the abcc6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol. 2013;133:2672-7.
    • (2013) J Invest Dermatol , vol.133 , pp. 2672-2677
    • Zhou, Y.1    Jiang, Q.2    Takahagi, S.3    Shao, C.4    Uitto, J.5


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