Defining keratin protein function in skin epithelia: Epidermolysis bullosa simplex and its aftermath

Journal of Investigative Dermatology

Volumn 132, Issue 3 PART 2, 2012, Pages 763-775

  Coulombe, Pierre A ^a,b   Lee, Chang Hun ^a  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5;

EPIDERMIS; EPIDERMOLYSIS BULLOSA SIMPLEX; GENODERMATOSIS; GENOTYPE; HUMAN; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SKIN EPITHELIUM;

EID: 84862776648     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.450     Document Type: Review

References (142)

1. Albers K, Fuchs E (1987) The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J Cell Biol 105:791-806 (Pubitemid 18043841)
2. Albers K, Fuchs E (1989) Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J Cell Biol 108:1477-93 (Pubitemid 19097052)
3. Anton-Lamprecht I (1983) Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: Pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol 81:149s-53s Atkinson SD, McGilligan VE, Liao H et al. (2011) Development of allelespecific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol 131:2079-86
4. Beil M, Micoulet A, von Wichert G et al. (2003) Sphingosylphosphorylcholine regulates keratin network architecture and visco-elastic properties of human cancer cells. Nat Cell Biol 5:803-11 (Pubitemid 37087168)
5. Betz RC, Planko L, Eigelshoven S et al. (2006) Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet 78:510-9 (Pubitemid 43291233)
6. Bonifas JM, Rothman AL, Epstein Eh Jr (1991) Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities. Science 254:1202-5 (Pubitemid 21917453)
7. Byrne C, Tainsky M, Fuchs E (1994) Programming gene expression in developing epidermis. Development 120:2369-83 (Pubitemid 24268813)
8. Cao T, Longley MA, Wang XJ et al. (2001) An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy. J Cell Biol 152:651-6 (Pubitemid 34280246)
9. Chamcheu JC, Navsaria H, Pihl-Lundin I et al. (2011) Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stressinduced keratin aggregation: Involvement of heat shock proteins and MAP kinases. J Invest Dermatol 131:1684-91
10. Chamcheu JC, Virtanen M, Navsaria H et al. (2010) Epidermolysis bullosa simplex due to KRT5 mutations: Mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. Br J Dermatol 162:980-9
11. Chan Y, Anton-Lamprecht I, Yu QC et al. (1994a) A human keratin 14 "knockout": The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 8:2574-87
12. Chan YM, Yu QC, Fine JD et al. (1993) The genetic basis of Weber- Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:7414-8
13. Chan YM, Yu QC, LeBlanc SJ et al. (1994b) Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci 107:767-74
14. Chen J, Cheng X, Merched-Sauvage M et al. (2006) An unexpected role for keratin 10 end domains in susceptibility to skin cancer. J Cell Sci 119:5067-76 (Pubitemid 46090486)
15. Cheng J, Syder AJ, Yu QC et al. (1992) The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes. Cell 70:811-9
16. Chipev CC, Korge BP, Markova N et al. (1992) A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70:821-8
17. Cockayne EA (1938) Recurrent bullous eruptions of the feet. Br J Dermatol 50:358-66
18. Collin C, Moll R, Kubicka S et al. (1992) Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp Cell Res 202:132-41
19. Cooper DN, Youssouffian H (1988) The CpG dinucleotide and human genetic diseases. Hum Genet 78:151-5 (Pubitemid 18069872)
20. Coulombe PA, Bernot KM (2004) Keratins and the skin. In: Encyclopedia of Biological Chemistry. (Lane MD, Lennarz W eds). Elsevier Science: New York, 497-504
21. Coulombe PA, Chan YM, Albers K et al. (1990) Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro. J Cell Biol 111:3049-64 (Pubitemid 120034042)
22. Coulombe PA, Fuchs E (1993) Epidermolysis bullosa simplex. Semin Dermatol 12:173-90 (Pubitemid 23280291)
23. Coulombe PA, Hutton ME, Letai A et al. (1991a) Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses. Cell 66:1301-11 (Pubitemid 121001418)
24. Coulombe PA, Hutton ME, Vassar R et al. (1991b) A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol 115:1661-74 (Pubitemid 21910006)
25. Coulombe PA, Kerns ML, Fuchs E (2009) Epidermolysis bullosa simplex: A paradigm for disorders of tissue fragility. J Clin Invest 119:1784-93
26. D'Alessandro M, Coats SE, Jonkmann MF et al. (2011) Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells. J Invest Dermatol 131:1412-9
27. D'Alessandro M, Russell D, Morley SM et al. (2002) Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. J Cell Sci 115:4341-51 (Pubitemid 35460704)
28. DePianto D, Kerns ML, Dlugosz AA et al. (2010) Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin. Nat Genet 42:910-4
29. Dowling GB, Freudenthal W (1938) A case of acanthosis nigricans. Br J Dermatol 50:467-71
30. Dowling GB, Meara RH (1954) Epidermolysis bullosa resembling juvenile dermatitis herpetiformis. Br J Dermatol 66:139-43
31. Epstein EH Jr (1992) Molecular genetics of epidermolysis bullosa. Science 256:799-804
32. Fine JD, Eady RA, Bauer EA et al. (2000) Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42:1051-66 (Pubitemid 30368677)
33. Fine JD, Eady RA, Bauer EA et al. (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-50
34. Fischer T, Gedde-Dahl T Jr (1979) Epidermolysis bullosa simplex and mottled pigmentation: A new dominant syndrome. I. Clinical and histological features. Clin Genet 15:228-38 (Pubitemid 9126925)
35. Fitch KR, McGowan KA, van Raamsdonk CD et al. (2003) Genetics of dark skin in mice. Genes Dev 17:214-28 (Pubitemid 36105894)
36. Fontao L, Tasanen K, Huber M et al. (2004) Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex. J Invest Dermatol 122:65-72 (Pubitemid 38114640)
37. Fransceschetti A, Jadassohn W (1954) On incontinentia pigmenti and differentiation of two syndromes appearing under the same name. Dermatologica 108:1-28
38. Freedberg IM, Tomic-Canic M, Komine M et al. (2001) Keratins and the keratinocyte activation cycle. J Invest Dermatol 116:633-40 (Pubitemid 32467639)
39. Fuchs E (1995) Keratins and the skin. Ann Rev Cell Dev Biol 11:123-53 (Pubitemid 26024047)
40. Fuchs E, Cleveland DW (1998) A structural scaffolding of intermediate filaments in health and disease. Science 279:514-9 (Pubitemid 28067272)
41. Fuchs E, Coulombe PA (1992) Of mice and men: Genetic skin diseases of keratin. Cell 69:899-902
42. Fuchs E, Esteves RA, Coulombe PA (1992) Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc Natl Acad Sci USA 89:6906-10
43. Fuchs E, Green H (1980) Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19:1033-42 (Pubitemid 10155237)
44. Fuchs EV, Coppock SM, Green H et al. (1981) Two distinct classes of keratin genes and their evolutionary significance. Cell 27(1 Pt 2):75-84 (Pubitemid 12205973)
45. Gache Y, Chavanas S, Lacour JP et al. (1996) Defective expression of plectin/ HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 97:2289-98 (Pubitemid 26167240)
46. Gu LH, Coulombe PA (2005) Defining the properties of the nonhelical tail domain in type II keratin 5: Insight from a bullous disease-causing mutation. Mol Biol Cell 16:1427-38 (Pubitemid 40349576)
47. Gu LH, Coulombe PA (2007) Keratin function in skin epithelia: A broadening palette with surprising shades. Curr Opin Cell Biol 19:13-23 (Pubitemid 46123973)
48. Gu LH, Kim SC, Ichiki Y et al. (2003) A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. J Invest Dermatol 121:482-5 (Pubitemid 37072257)
49. Haneke E, Anton-Lamprecht I (1982) Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol 78:219-23 (Pubitemid 12171883)
50. Hanukoglu I, Fuchs E (1982) The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins. Cell 31:243-52 (Pubitemid 13215210)
51. Harel A, Bergman R, Indelman M et al. (2006) Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. J Invest Dermatol 126:1654-7
52. Hatzfeld M, Franke WW (1985) Pair formation and promiscuity of cytokeratins: Formation in vitro of heterotypic complexes and intermediate- sized filaments by homologous and heterologous recombinations of purified polypeptides. J Cell Biol 101:1826-41 (Pubitemid 16192156)
53. Hatzfeld M, Weber K (1991) Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99:351-62 (Pubitemid 21925023)
54. Hesse M, Zimek A, Weber K et al. (2004) Comprehensive analysis of keratin gene clusters in humans and rodents. Eur J Cell Biol 83:19-26 (Pubitemid 38455603)
55. Holbrook KA, Wapner R, Jackson L et al. (1992) Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus. Prenat Diagn 12:725-39
56. Horiguchi Y, Sawamura D, Mori R et al. (2005) Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: A Japanese family with epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 125:83-5 (Pubitemid 40981427)
57. Horn HM, Tidman MJ (2000) The clinical spectrum of epidermolysis bullosa simplex. Br J Dermatol 142:468-72 (Pubitemid 30159069)
58. Hovnanian A, Pollack E, Hilal L et al. (1993) A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nat Genet 3:327-32 (Pubitemid 23112958)
59. Inada H, Izawa I, Nishizawa M et al. (2001) Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. J Cell Biol 155:415-26
60. Ishida-Yamamoto A, McGrath JA, Chapman SJ et al. (1991) Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 97:959-68
61. Ito M, Okuda C, Shimizu N et al. (1991) Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study. Arch Dermatol 127:367-72
62. Jonkman MF, Heeres K, Pas HH et al. (1996) Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107:764-9 (Pubitemid 26371095)
63. Kerns M, DePianto D, Yamamoto M et al. (2010) Differential modulation of keratin expression by sulforaphane occurs via Nrf2-dependent and -independent pathways in skin epithelia. Mol Biol Cell 21:4068-75
64. Kerns ML, DePianto D, Dinkova-Kostova AT et al. (2007) Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex. Proc Natl Acad Sci USA 104:14460-5 (Pubitemid 350003283)
65. Kim S, Coulombe PA (2007) Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm. Genes Dev 21:1581-97 (Pubitemid 47026362)
66. Kim S, Coulombe PA (2010) Emerging role for the cytoskeleton as an organizer and regulator of translation. Nat Rev Mol Cell Biol 11:75-81
67. Kim S, Wong P, Coulombe PA (2006) A keratin cytoskeletal protein regulates protein synthesis and epithelial cell growth. Nature 441:362-5 (Pubitemid 44050202)
68. Kitajima Y, Inoue S, Yaoita H (1989) Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch Dermatol Res 281:5-10 (Pubitemid 19064132)
69. Koebner H (1886) Hereditare anlage zur blasenbildung. Dtsch Med Wochenschr 12:21-2
70. Kopan R, Fuchs E (1989) A new look into an old problem: Keratins as tools to investigate determination, morphogenesis, and differentiation in skin. Genes Dev 3:1-15
71. Kreplak L, Fudge D (2007) Biomechanical properties of intermediate filaments: From tissues to single filaments and back. Bioessays 29:26-35 (Pubitemid 46181802)
72. Lammerding J, Schulze PC, Takahashi T et al. (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113:370-8 (Pubitemid 38544181)
73. Lane EB, Rugg EL, Navsaria H et al. (1992) A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356:244-6
74. Langan SM, Williams HC (2008) A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa. Clin Exp Dermatol 34:20-5
75. Lee D, Santos D, Al-Rawi H et al. (2008) The chemical chaperone trimethylamine N-oxide ameliorates the effects of mutant keratins in cultured cells. Br J Dermatol 159:252-5 (Pubitemid 351874481)
76. Leigh IM, Lane EB (1993) Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis (Review). Arch Dermatol 129:1571-7 (Pubitemid 23357908)
77. Letai A, Coulombe PA, Fuchs E (1992) Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116:1181-95
78. Letai A, Coulombe PA, McCormick MB et al. (1993) Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:3197-201 (Pubitemid 23111332)
79. Lewin AS, Glazer PM, Milstone LM (2005) Gene therapy for autosomal dominant disorders of keratin. J Investig Dermatol Symp Proc 10:47-61
80. Liovic M, Lee B, Tomic-Canic M et al. (2008) Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines. Exp Cell Res 314:2066-75
81. Lloyd C, Yu QC, Cheng J et al. (1995) The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14. J Cell Biol 129:1329-44
82. Loffek S, Woll S, Hohfeld J et al. (2010) The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. Hum Mutat 31:466-76
83. Lu H, Chen J, Planko L et al. (2007) Induction of inflammatory cytokines by a keratin mutation and their repression by a small molecule in a mouse model for EBS. J Invest Dermatol 127:2781-9 (Pubitemid 350134816)
84. Lulevich V, Yang HY, Isseroff RR et al. (2010) Single cell mechanics of keratinocyte cells. Ultramicroscopy 110:1435-42
85. Ma L, Yamada S, Wirtz D et al. (2001) A 'hot-spot' mutation alters the mechanical properties of keratin filament networks. Nat Cell Biol 3:503-6 (Pubitemid 32422087)
86. Markey AC, Lane EB, Macdonald DM et al. (1992) Keratin expression in basal cell carcinomas. Br J Dermatol 126:154-60
87. McGowan KA, Aradhya S, Fuchs H et al. (2006) A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J Invest Dermatol 126:1013-6
88. McGowan KM, Coulombe PA (1998) The wound repair associated keratins 6, 16, and 17: Insights into the role of intermediate filaments in specifying cytoarchitecture. In Subcellular Biochemistry: Intermediate Filaments. Plenum Publishing: London, 141-65
89. McLean WH, Moore CB (2011) Keratin disorders: From gene to therapy. Hum Mol Genet 20:R189-97
90. McLean WH, Pulkkinen L, Smith FJ et al. (1996) Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization. Genes Dev 10:1724-35 (Pubitemid 26272379)
91. Miller SJ, Sun TT, Coulombe PA (2008) Epidermal growth and differentiation. In: Fitzpatrick's Dermatology in General Medicine. (Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Lefell DJ, eds). 7th ed New York: McGraw Hill, 375-82
92. Moll R, Franke WW, Schiller DL et al. (1982) The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells (Review). Cell 31:11-24 (Pubitemid 13215192)
93. Morley SM, D'Alessandro M, Sexton C et al. (2003) Generation and characterization of epidermolysis bullosa simplex cell lines: Scratch assays show faster migration with disruptive keratin mutations. Br J Dermatol 149:46-58 (Pubitemid 36966510)
94. Morley SM, Dundas SR, James JL et al. (1995) Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. J Cell Sci 108:3463-71
95. Naegeli B (1927) Familiarer chromatophornnavus. Scweiz Med Wschr 8:48
96. Nelson WG, Sun TT (1983) The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: Cell culture studies. J Cell Biol 97:244-51 (Pubitemid 13076537)
97. Niemi KM, Sommer H, Kero M et al. (1988) Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol 124:551-4 (Pubitemid 18096313)
98. O'Guin WM, Schermer A, Lynch M et al. (1990) Differentiation-specific expression of keratin pairs. In: Cellular and Molecular Biology of Intermediate Filaments. Goldman RD, Steinert PM (eds). Plenum Press, New York, pp 301-34
99. Omary MB, Coulombe PA, McLean WHI (2004) Intermediate filament proteins and their associated diseases. N Engl J Med 351:2087-100 (Pubitemid 39482502)
100. Osmanagic-Myers S, Gregor M, Walko G et al. (2006) Plectin-controlled keratin cytoarchitecture affects MAP kinases involved in cellular stress response and migration. J Cell Biol 174:557-68 (Pubitemid 44231867)
101. Paladini RD, Coulombe PA (1999) The functional diversity of epidermal keratins revealed by the partial rescue of the keratin 14 null phenotype by keratin 16. J Cell Biol 146:1185-201 (Pubitemid 29430457)
102. Paladini RD, Takahashi K, Bravo NS et al. (1996) Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: Defining a potential role for keratin 16. J Cell Biol 132:381-97 (Pubitemid 26052572)
103. Paller AS (2004) The complexities of epidermolysis bullosa "simplex". J Invest Dermatol 122:vi-i
104. Paramio JM, Santos M, Jorcano JL (2007) The ends of a conundrum? J Cell Sci 120:1145-7
105. Parry DA (2005) Microdissection of the sequence and structure of intermediate filament chains. Adv Protein Chem 70:113-42 (Pubitemid 40544782)
106. Petek LM, Fleckman P, Miller DG (2010) Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex. Mol Ther 18:1624-32
107. Peters B, Kirfel J, Bussow H et al. (2001) Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex. Mol Biol Cell 12:1775-89 (Pubitemid 33049729)
108. Pfendner E, Rouan F, Uitto J (2005) Progress in epidermolysis bullosa: The phenotypic spectrum of plectin mutations. Exp Dermatol 14:241-9 (Pubitemid 40485451)
109. Pfendner EG, Nakano A, Pulkkinen L et al. (2003) Prenatal diagnosis for epidermolysis bullosa: A study of 144 consecutive pregnancies at risk. Prenat Diagn 23:447-56 (Pubitemid 36775581)
110. Porter RM, Lunny DP, Ogden PH et al. (2000) K15 expression implies lateral differentiation within stratified epithelial basal cells. Lab Invest 80:1701-10
111. Quigley DA, To MD, Perez-Losada J et al. (2009) Genetic architecture of mouse skin inflammation and tumour susceptibility. Nature 458:505-8
112. Reichelt J, Furstenberger G, Magin TM (2004) Loss of keratin 10 leads to mitogen-Activated protein kinase (MAPK) activation, increased keratinocyte turnover, and decreased tumor formation in mice. J Invest Dermatol 123:973-81 (Pubitemid 39391945)
113. Reichelt J, Magin TM (2002) Hyperproliferation, induction of c-Myc and 14-3- 3sigma, but no cell fragility in keratin-10-null mice. J Cell Sci 115:2639-50
114. Roth W, Reuter U, Wohlenberg C et al. (2009) Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex. Hum Mutat 30:832-41
115. Rothnagel JA, Dominey AM, Dempsey LD et al. (1992) Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257:1128-30
116. Rugg EL, Baty D, Shemanko CS et al. (2000) DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. Prenat Diagn 20:371-7 (Pubitemid 30261156)
117. Rugg EL, McLean IWH, Lane EB et al. (1994) A functional "knockout" of human keratin 14. Genes Dev 8:2563-73
118. Russell D, Andrews PD, James J et al. (2004) Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes. J Cell Sci 117:5233-43 (Pubitemid 39562486)
119. Schuilenga-Hut PH, Scheffer H, Pas HH et al. (2002) Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol 118:626-30 (Pubitemid 34309981)
120. Schweizer J, Bowden PE, Coulombe PA et al. (2006) New consensus nomenclature for mammalian keratins. J Cell Biol 174:169-74 (Pubitemid 44079852)
121. Smith FJ, Morley SM, McLean WH (2004) Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 122:73-7 (Pubitemid 38114641)
122. Stacey SN, Sulem P, Masson G et al. (2009) New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 41:909-14
123. Steinert PM, Idler WW, Zimmerman SB (1976) Self-Assembly of bovine epidermal keratin filaments in vitro. J Mol Biol 108:547-67 (Pubitemid 8008275)
124. Steinert PM, Marekov LN, Fraser RD et al. (1993) Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 230:436-52 (Pubitemid 23161354)
125. Steinert PM, Rice RH, Roop DR et al. (1983) Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments. Nature 302:794-800 (Pubitemid 13125115)
126. Stephens K, Sybert VP, Wijsman EM et al. (1993) A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis. J Invest Dermatol 101:240-3 (Pubitemid 23218707)
127. Swartling C, Karlqvist M, Hymnelius K et al. (2010) Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. Br J Dermatol 163:1072-6
128. Swensson O, Langbein L, McMillan JR et al. (1998) Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br J Dermatol 139:767-75 (Pubitemid 28520281)
129. Szeverenyi I, Cassidy AJ, Chung CW et al. (2008) The Human Intermediate Filament Database: Comprehensive information on a gene family involved in many human diseases. Hum Mutat 29:351-60 (Pubitemid 351364936)
130. Tong X, Coulombe PA (2006) Keratin 17 modulates hair follicle cycling in a TNFalpha-dependent fashion. Genes Dev 20:1353-64 (Pubitemid 43727595)
131. Uttam J, Hutton E, Coulombe PA et al. (1996) The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA 93:9079-84 (Pubitemid 26282021)
132. Vassar R, Coulombe PA, Degenstein L et al. (1991) Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-80 (Pubitemid 121001261)
133. Wally V, Brunner M, Lettner T et al. (2010) K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum Mol Genet 19:4715-25
134. Wally V, Klausegger A, Koller U et al. (2008) 50 trans-splicing repair of the PLEC1 gene. J Invest Dermatol 128:568-74
135. Weber FP (1926) Recurrent bullous eruption on the feet in a child. Proc R Soc Med 19:72-5
136. Werner NS, Windoffer R, Strnad P et al. (2004) Epidermolysis bullosa simplextype mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits. Mol Biol Cell 15:990-1002 (Pubitemid 38316210)
137. Wiche G (1998) Role of plectin in cytoskeleton organization and dynamics. J Cell Sci 111:2477-86 (Pubitemid 28474951)
138. Wilson AK, Coulombe PA, Fuchs E (1992) The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro. J Cell Biol 119:401-14
139. Wong P, Coulombe PA (2003) Loss of keratin 6 (K6) proteins reveals a function for intermediate filaments during wound repair. J Cell Biol 163:327-37 (Pubitemid 37363133)
140. Woodcock-Mitchell J, Eichner R, Nelson WG et al. (1982) Immunolocalization of keratin polypeptides in human epidermis using monoclonal antibodies. J Cell Biol 95:580-8 (Pubitemid 13215875)
141. Wu KC, Bryan JT, Morasso MI et al. (2000) Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments. Mol Biol Cell 11:3539-58
142. Yin T, Getsios S, Caldelari R et al. (2005) Plakoglobin suppresses keratinocyte motility through both cell-cell adhesion-dependent and -independent mechanisms. Proc Natl Acad Sci USA 102:5420-5 (Pubitemid 40530273)