Epidermal barriers

Cold Spring Harbor Perspectives in Medicine

Volumn 4, Issue 4, 2014, Pages

  Natsuga, Ken ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN; CONNEXIN 26; FILAGGRIN; KALLIKREIN 5; LIPID; POLYPEPTIDE ANTIBIOTIC AGENT; STRATUM CORNEUM CHYMOTRYPTIC ENZYME; TRANSCRIPTION FACTOR;

EPIDERMIS BARRIER; EPITHELIUM CELL; FLUORESCENCE MICROSCOPY; GENE EXPRESSION; GENE MUTATION; HUMAN; MEMBRANE BIOLOGY; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PYROSEQUENCING; REVIEW; SIGNAL TRANSDUCTION;

EID: 84897472266     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a018218     Document Type: Review

References (177)

1. Aberg K. M, Man MQ, Gallo RL, Ganz T, CrumrineD, Brown BE, Choi EH, Kim DK, Schroder JM, Feingold KR, et al. 2008. Co-regulation and interdependence of the mammalian epidermal permeability and antimicrobial barriers. J Invest Dermatol 128: 917-925.
2. Aho S., Li K, Ryoo Y, McGee C, Ishida-Yamamoto A, Uitto J, Klement JF. 2004. Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development. Mol Cell Biol 24: 6410-6418.
3. Akiyama M. 2010. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 31: 1090-1096.
4. Akiyama M. 2011. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol 3: 107-112.
5. Akiyama M., Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M., Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R., et al. 2005. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115: 1777-1784.
6. Aldahmesh M. A, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. 2011. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 89: 745-750.
7. Alef T., Torres S, Hausser I, Metze D, Tursen U, Lestringant GG, Hennies HC. 2009. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 129: 862-869.
8. Amen N., Mathow D, Rabionet M, Sandhoff R, Langbein L, Gretz N., Jackel C, Grone HJ, Jennemann R. 2013. Differentiation of epidermal keratinocytes is dependent on glucosylceramide:ceramide processing. Hum Mol Genet 22: 4164-4179.
9. Annilo T., Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, et al. 2002. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res 98: 169-176.
10. Aszterbaum M., Menon GK, Feingold KR, Williams ML. 1992. Ontogeny of the epidermal barrier to water loss in the rat: Correlation of function with stratum corneum structure and lipid content. Pediatr Res 31: 308-317.
11. Ayadi A., Birling MC, Bottomley J, Bussell J, Fuchs H, Fray M, Gailus-Durner V, Greenaway S, Houghton R, Karp N, et al. 2012. Mouse large-scale phenotyping initiatives: Overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome 23: 600-610.
12. Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, et al. 2007. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet 80: 467-477.
13. Beutler E. 1992. Gaucher disease: New molecular approaches to diagnosis and treatment. Science 256: 794-799.
14. Bitoun E., Micheloni A, Lamant L, Bonnart C, Tartaglia-Polcini A., Cobbold C, Al Saati T, Mariotti F, Mazereeuw-Hautier J., Boralevi F, et al. 2003. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 12: 2417-2430.
15. Bonnart C., Deraison C, Lacroix M, Uchida Y, Besson C, Robin A., Briot A, Gonthier M, Lamant L, Dubus P, et al. 2010. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest 120: 871-882.
16. Braff M. H, Di Nardo A, Gallo RL. 2005. Keratinocytes store the antimicrobial peptide cathelicidin in lamellar bodies. J Invest Dermatol 124: 394-400.
17. Brooke M. A, Nitoiu D, Kelsell DP. 2012. Cell-cell connectivity: Desmosomes and disease. J Pathol 226: 158-171.
18. Candi E., Schmidt R, Melino G. 2005. The cornified envelope: A model of cell death in the skin. Nat Rev Mol Cell Biol 6: 328-340.
19. Chanarin I., Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. 1975. Neutral-lipid storage disease: A new disorder of lipid metabolism. Br Med J 1: 553-555.
20. Chavanas S., Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine A. D, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, et al. 2000. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25: 141-142.
21. Cheng J., Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E. 1992. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes. Cell 70: 811-819.
22. Chidgey M., Brakebusch C, Gustafsson E, Cruchley A, Hail C, Kirk S, Merritt A, North A, Tselepis C, Hewitt J, et al. 2001. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol 155: 821-832.
23. Chilcott R. P, Farrar R. 2000. Biophysical measurements of human forearm skin in vivo: Effects of site, gender, chirality and time. Skin Res Technol 6: 64-69.
24. Dasgupta C., Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. 2001. Identification of connexin43 (a1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479: 173-186.
25. de Guzman Strong C, Wertz PW, Wang C, Yang F, Meltzer PS, Andl T, Millar SE, Ho IC, Pai SY, Segre JA. 2006. Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3. J Cell Biol 175: 661-670.
26. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. 1996. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12: 52-57.
27. Delva E., Tucker DK, Kowalczyk AP. 2009. The desmosome. Cold Spring Harb Perspect Biol 1: a002543.
28. Denecker G., Hoste E, Gilbert B, Hochepied T, Ovaere P, Lippens S., Van den Broecke C, Van Damme P, D'Herde K, Hachem JP, et al. 2007. Caspase-14 protects against epidermal UVB photodamage and water loss. Nat Cell Biol 9: 666-674.
29. Descargues P., Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, Elias P, Barrandon Y, Zambruno G, Sonnenberg A., et al. 2005. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 37: 56-65.
30. Djalilian A. R, McGaughey D, Patel S, Seo EY, Yang C, Cheng J, Tomic M, Sinha S, Ishida-Yamamoto A, Segre JA. 2006. Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. J Clin Invest 116: 1243-1253.
31. Dorfman M. L, Hershko C, Eisenberg S, Sagher F. 1974. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 110: 261-266.
32. Eckl K. M, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil M. L, Onal-Akan A, Stock F, Muller D, et al. 2013. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol 133: 2202-2211.
33. Elias P. M, Brown BE. 1978. The mammalian cutaneous permeability barrier: Defective barrier function is essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. Lab Invest 39: 574-583.
34. Elias P. M, Friend DS. 1975. The permeability barrier in mammalian epidermis. J Cell Biol 65: 180-191.
35. Elias P. M, Hatano Y, Williams ML. 2008a. Basis for the barrier abnormality in atopic dermatitis: Outside-inside-outside pathogenic mechanisms. J Allergy Clin Immunol 121: 1337-1343.
36. Elias P. M, Williams ML, Holleran WM, Jiang YJ, Schmuth M. 2008b. Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism. J Lipid Res 49: 697-714.
37. Elias P. M, Crumrine D, Paller A, Rodriguez-Martin M, Williams ML. 2011. Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders. Dermatoendocrinology 3: 100-106.
38. Elias P. M, Williams ML, Feingold KR. 2012. Abnormal barrier function in the pathogenesis of ichthyosis: Therapeutic implications for lipid metabolic disorders. Clin Dermatol 30: 311-322.
39. Epp N., Furstenberger G, Muller K, de Juanes S, Leitges M, Hausser I., Thieme F, Liebisch G, Schmitz G, Krieg P. 2007. 12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol 177: 173-182.
40. Fallon P. G, Sasaki T, Sandilands A, Campbell LE, Saunders SP, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A., et al. 2009. A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming. Nat Genet 41: 602-608.
41. Feingold K. R, Jiang YJ. 2011. The mechanisms by which lipids coordinately regulate the formation of the protein and lipid domains of the stratum corneum: Role of fatty acids, oxysterols, cholesterol sulfate and ceramides as signaling molecules. Dermatoendocrinol 3: 113-118.
42. Fluhr J. W, Feingold KR, Elias PM. 2006. Transepidermal water loss reflects permeability barrier status: Validation in human and rodent in vivo and ex vivo models. Exp Dermatol 15: 483-492.
43. Frateschi S., Camerer E, Crisante G, Rieser S, Membrez M, Charles R. P, Beermann F, Stehle JC, Breiden B, Sandhoff K, et al. 2011. PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin. Nat Commun 2: 161.
44. Frateschi S., Keppner A, Malsure S, Iwaszkiewicz J, Sergi C, Merillat A. M, Fowler-Jaeger N, Randrianarison N, Planes C, Hummler E. 2012. Mutations of the serine protease CAP1/Prss8 lead to reduced embryonic viability, skin defects, and decreased ENaC activity. Am J Pathol 181: 605-615.
45. Furuse M., Fujita K, Hiiragi T, Fujimoto K, Tsukita S. 1998. Claudin-1 and-2: Novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin. J Cell Biol 141: 1539-1550.
46. Furuse M., Sasaki H, Tsukita S. 1999. Manner of interaction of heterogeneous claudin species within and between tight junction strands. J Cell Biol 147: 891-903.
47. Furuse M., Hata M, Furuse K, Yoshida Y, Haratake A, Sugitani Y, Noda T, Kubo A, Tsukita S. 2002. Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice. J Cell Biol 156: 1099-1111.
48. Gallo R. L, Hooper LV. 2012. Epithelial antimicrobial defence of the skin and intestine. Nat Rev Immunol 12: 503-516.
49. Geng S., Mezentsev A, Kalachikov S, Raith K, Roop DR, Panteleyev A.A. 2006. Targeted ablation of Arnt in mouse epidermis results in profound defects in desquamation and epidermal barrier function. J Cell Sci 119: 4901-4912.
50. Ghadially R., Brown BE, Hanley K, Reed JT, Feingold KR, Elias P.M. 1996. Decreased epidermal lipid synthesis accounts for altered barrier function in aged mice. J Invest Dermatol 106: 1064-1069.
51. Ghosh A. K, Ramakrishnan G, Chandramohan C, Rajasekharan R. 2008. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. J Biol Chem 283: 24525-24533.
52. Guillou H., Zadravec D, Martin PG, Jacobsson A. 2010. The key roles of elongases and desaturases in mammalian fatty acid metabolism: Insights from transgenic mice. Prog Lipid Res 49: 186-199.
53. Hadj-Rabia S, Baala L, Vabres P, Hamel-TeillacD, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, et al. 2004. Claudin-1 gene mutations in neo-natal sclerosing cholangitis associated with ichthyosis: A tight junction disease. Gastroenterology 127: 1386-1390.
54. Hammarlund K., Sedin G. 1979. Transepidermal water loss in newborn infants: III. Relation to gestational age. Acta Paediatr Scand 68: 795-801.
55. Hardman M. J, Sisi P, Banbury DN, Byrne C. 1998. Patterned acquisition of skin barrier function during development. Development 125: 1541-1552.
56. Herrmann T., van der Hoeven F, Grone HJ, Stewart AF, Langbein L, Kaiser I, Liebisch G, Gosch I, Buchkremer F, Drobnik W., et al. 2003. Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. J Cell Biol 161: 1105-1115.
57. Herrmann T., Grone HJ, Langbein L, Kaiser I, Gosch I, BennemannU, MetzgerD, Chambon P, Stewart AF, Stremmel W. 2005. Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency. J Invest Dermatol 125: 1228-1235.
58. Hewett D. R, Simons AL, Mangan NE, Jolin HE, Green SM, Fallon P. G, McKenzie AN. 2005. Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. Hum Mol Genet 14: 335-346.
59. Holleran W. M, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E. 1994. Consequences of b-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 93: 1756-1764.
60. Hoste E., Kemperman P, Devos M, Denecker G, Kezic S, Yau N, Gilbert B, Lippens S, De Groote P, Roelandt R, et al. 2011. Caspase-14 is required for filaggrin degradation to natural moisturizing factors in the skin. J Invest Dermatol 131: 2233-2241.
61. Hovnanian A. 2013. Netherton syndrome: Skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 351: 289-300.
62. Huber M., Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M., Bon A, Lautenschlager S, Schorderet DF, Hohl D. 1995. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267: 525-528.
63. Human Microbiome Project C. 2012a. A framework for human microbiome research. Nature 486: 215-221.
64. Human Microbiome Project C. 2012b. Structure, function and diversity of the healthy human microbiome. Nature 486: 207-214.
65. Indra A. K, Leid M. 2011. Epidermal permeability barrier measurement in mammalian skin. Methods Mol Biol 763: 73-81.
66. Indra A. K, MohanWS2nd, Frontini M, Scheer E, Messaddeq N, Metzger D, Tora L. 2005. TAF10 is required for the establishment of skin barrier function in foetal, but not in adult mouse epidermis. Dev Biol 285: 28-37.
67. Ishida-Yamamoto A. 2003. Loricrin keratoderma: A novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci 31: 3-8.
68. Jakobsson A., Westerberg R, Jacobsson A. 2006. Fatty acid elongases in mammals: Their regulation and roles in metabolism. Prog Lipid Res 45: 237-249.
69. Jaubert J., Cheng J, Segre JA. 2003. Ectopic expression of kruppel like factor 4 (Klf4) accelerates formation of the epidermal permeability barrier. Development 130: 2767-2777.
70. Jennemann R., Rabionet M, Gorgas K, Epstein S, Dalpke A, Rothermel U., Bayerle A, van der Hoeven F, Imgrund S, Kirsch J., et al. 2012. Loss of ceramide synthase 3 causes lethal skin barrier disruption. Hum Mol Genet 21: 586-608.
71. Jobard F., Lefevre C, KaradumanA, Blanchet-BardonC, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. 2002. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. HumMol Genet 11: 107-113.
72. Kabashima-Kubo R, Nakamura M, Sakabe J, Sugita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, et al. 2012. A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type. J Dermatol Sci 67: 37-43.
73. Kaufman C. K, Zhou P, Pasolli HA, Rendl M, Bolotin D, Lim KC, Dai X, Alegre ML, Fuchs E. 2003. GATA-3: An unexpected regulator of cell lineage determination in skin. Genes Dev 17: 2108-2122.
74. Kawasaki H., Nagao K, Kubo A, Hata T, Shimizu A, Mizuno H, Yamada T, Amagai M. 2012. Altered stratum corneum barrier and enhanced percutaneous immune responses in filaggrin-null mice. J Allergy Clin Immunol 129: 1538-1546 e1536.
75. Kelsell D. P, Norgett EE, Unsworth H, TehMT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, et al. 2005. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76: 794-803.
76. Khnykin D., Miner JH, Jahnsen F. 2011. Role of fatty acid transporters in epidermis: Implications for health and disease. Dermatoendocrinology 3: 53-61.
77. Kihara A. 2012. Very long-chain fatty acids: Elongation, physiology and related disorders. J Biochem 152: 387-395.
78. Klar J., Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, Vahlquist A, Bouadjar B, Dahl N, Fischer J. 2009. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 85: 248-253.
79. Koch P. J, de Viragh PA, Scharer E, BundmanD, Longley MA, Bickenbach J., Kawachi Y, Suga Y, Zhou Z, Huber M, et al. 2000. Lessons from loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 151: 389-400.
80. Kong H. H, Oh J, Deming C, Conlan S, Grice EA, Beatson MA, Nomicos E, Polley EC, Komarow HD, Program NCS, et al. 2012. Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis. Genome Res 22: 850-859.
81. Krieg P., Rosenberger S, de Juanes S, Latzko S, Hou J, Dick A, Kloz U., van der Hoeven F, Hausser I, Esposito I, et al. 2013. Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation. J Invest Dermatol 133: 172-180.
82. Kubo A., Nagao K, Amagai M. 2012. Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases. J Clin Invest 122: 440-447.
83. Kuramoto N., Takizawa T, Takizawa T, Matsuki M, Morioka H, Robinson JM, Yamanishi K. 2002. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 109: 243-250.
84. Lai Y., Gallo RL. 2009. AMPed up immunity: How antimicrobial peptides have multiple roles in immune defense. Trends Immunol 30: 131-141.
85. Laiho E., Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A. 1997. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population. Am J Hum Genet 61: 529-538.
86. Lefevre C., Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R., Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, et al. 2001. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69: 1002-1012.
87. Lefevre C., Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M., Weissenbach J, et al. 2003. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12: 2369-2378.
88. Lessard J. C, Coulombe PA. 2012. Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders. J Invest Dermatol 132: 1384-1391.
89. Leyvraz C., Charles RP, Rubera I, Guitard M, Rotman S, Breiden B., Sandhoff K, Hummler E. 2005. The epidermal barrier function is dependent on the serine protease CAP1/Prss8. J Cell Biol 170: 487-496.
90. List K., Haudenschild CC, Szabo R, Chen W, Wahl SM, Swaim W., Engelholm LH, Behrendt N, Bugge TH. 2002. Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis. Oncogene 21: 3765-3779.
91. List K., Szabo R, Wertz PW, Segre J, Haudenschild CC, Kim SY, Bugge TH. 2003. Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/ MT-SP1. J Cell Biol 163: 901-910.
92. Loomis K. D, Zhu S, Yoon K, Johnson PF, Smart RC. 2007. Genetic ablation of CCAAT/enhancer binding protein a in epidermis reveals its role in suppression of epithelial tumorigenesis. Cancer Res 67: 6768-6776.
93. Lopez R. G, Garcia-Silva S, Moore SJ, Bereshchenko O, Martinez-Cruz A. B, Ermakova O, Kurz E, Paramio JM, Nerlov C. 2009. C/EBP-a and b couple interfollicular keratinocyte proliferation arrest to commitment and terminal differentiation. Nat Cell Biol 11: 1181-1190.
94. Lundwall A., Brattsand M. 2008. Kallikrein-related peptidases. Cell Mol Life Sci 65: 2019-2038.
95. Maass K., Ghanem A, Kim JS, Saathoff M, Urschel S, Kirfel G, Grummer R, Kretz M, Lewalter T, Tiemann K, et al. 2004. Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43. Mol Biol Cell 15: 4597-4608.
96. Maatta A., DiColandrea T, Groot K, Watt FM. 2001. Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelope. Mol Cell Biol 21: 7047-7053.
97. Maeda S., Tsukihara T. 2011. Structure of the gap junction channel and its implications for its biological functions. Cell Mol Life Sci 68: 1115-1129.
98. Magert H. J, Standker L, Kreutzmann P, Zucht HD, Reinecke M, Sommerhoff CP, Fritz H, Forssmann WG. 1999. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem 274: 21499-21502.
99. Matsuki M., Yamashita F, Ishida-Yamamoto A, Yamada K, Kinoshita C., Fushiki S, Ueda E, Morishima Y, Tabata K, Yasuno H., et al. 1998. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci 95: 1044-1049.
100. Maytin E. V, Habener JF. 1998. Transcription factors C/EBPa, C/EBP-b, andCHOP(Gadd153) expressed during the differentiation program of keratinocytes in vitro and in vivo. J Invest Dermatol 110: 238-246.
101. McAleer MA, Irvine AD. 2013. The multifunctional role of filaggrin in allergic skin disease. J Allergy Clin Immunol 131: 280-291.
102. McLean WH, Hansen CD, Eliason MJ, Smith FJ. 2011. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 131: 1015-1017.
103. Mehrel T., Hohl D, Rothnagel JA, Longley MA, Bundman D, Cheng C, LichtiU, Bisher ME, Steven AC, Steinert PM, et al. 1990. Identification of a major keratinocyte cell envelope protein, loricrin. Cell 61: 1103-1112.
104. Merzdorf C. S, Chen YH, Goodenough DA. 1998. Formation of functional tight junctions in Xenopus embryos. Dev Biol 195: 187-203.
105. Miller G. S, List K. 2013. The matriptase-prostasin proteolytic cascade in epithelial development and pathology. Cell Tissue Res 351: 245-253.
106. Mizutani Y., Mitsutake S, Tsuji K, Kihara A, Igarashi Y. 2009. Ceramide biosynthesis in keratinocyte and its role in skin function. Biochimie 91: 784-790.
107. Mohan W. S Jr, Scheer E, Wendling O, Metzger D, Tora L. 2003. TAF10 (TAFII30) is necessary for TFIID stability and early embryogenesis in mice. Mol Cell Biol 23: 4307-4318.
108. Moll R., FrankeWW, Schiller DL, Geiger B, Krepler R. 1982. The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells. Cell 31: 11-24.
109. Moniaga C. S, Egawa G, Kawasaki H, Hara-Chikuma M, Honda T., Tanizaki H, Nakajima S, Otsuka A, Matsuoka H, Kubo A, et al. 2010. Flaky tail mouse denotes human atopic dermatitis in the steady state and by topical application with Dermatophagoides pteronyssinus extract. Am J Pathol 176: 2385-2393.
110. Moran J. L, Qiu H, Turbe-Doan A, Yun Y, Boeglin WE, Brash AR, Beier DR. 2007. A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol 127: 1893-1897.
111. Moulson C. L, Martin DR, Lugus JJ, Schaffer JE, Lind AC, Miner J.H. 2003. Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. Proc Natl Acad Sci 100: 5274-5279.
112. Moulson C. L, Lin MH, White JM, Newberry EP, Davidson NO, Miner JH. 2007. Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice. J Biol Chem 282: 15912-15920.
113. Nakagawa N., Yamamoto M, Imai Y, Sakaguchi Y, Takizawa T, Ohta N., Yagi N, Hatta I, Hitomi K, Takizawa T, et al. 2012. Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice. J Dermatol Sci 65: 196-206.
114. Natsuga K., Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, Hata H, Abe M, Arita K, Tsuji-Abe Y, et al. 2007. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 127: 2669-2673.
115. Natsuga K., Akiyama M, Shimizu H. 2011. Malignant skin tumours in patients with inherited ichthyosis. Br J Dermatol 165: 263-268.
116. Nelson W. G, Sun TT. 1983. The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: Cell culture studies. J Cell Biol 97: 244-251.
117. Netzel-Arnett S, Currie BM, Szabo R, Lin CY, Chen LM, Chai K. X, Antalis TM, Bugge TH, List K. 2006. Evidence for a matriptase-prostasin proteolytic cascade regulating terminal epidermal differentiation. J Biol Chem 281: 32941-32945.
118. Nirunsuksiri W., Zhang SH, Fleckman P. 1998. Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. J Invest Dermatol 110: 854-861.
119. Nizet V., Ohtake T, Lauth X, Trowbridge J, Rudisill J, Dorschner RA, Pestonjamasp V, Piraino J, Huttner K, Gallo RL. 2001. Innate antimicrobial peptide protects the skin from invasive bacterial infection. Nature 414: 454-457.
120. Ny A., Egelrud T. 2004. Epidermal hyperproliferation and decreased skin barrier function in mice overexpressing stratum corneum chymotryptic enzyme. Acta Derm Venereol 84: 18-22.
121. Oh H. S, Smart RC. 1998. Expression of CCAAT/enhancer binding proteins (C/EBP) is associated with squamous differentiation in epidermis and isolated primary keratinocytes and is altered in skin neoplasms. J Invest Dermatol 110: 939-945.
122. Ohno Y., Suto S, Yamanaka M, Mizutani Y, Mitsutake S, Igarashi Y., Sassa T, Kihara A. 2010. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. Proc Natl Acad Sci 107: 18439-18444.
123. Oji V., Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, et al. 2010. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 63: 607-641.
124. Ovaere P., Lippens S, Vandenabeele P, DeclercqW. 2009. The emerging roles of serine protease cascades in the epidermis. Trends Biochem Sci 34: 453-463.
125. Oyoshi M. K, Murphy GF, Geha RS. 2009. Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen. J Allergy Clin Immunol 124: 485-493, 493. e1.
126. Palmer C. N, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, et al. 2006. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38: 441-446.
127. PaznekasWA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, et al. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408-418.
128. Perez-Moreno M, Jamora C, Fuchs E. 2003. Sticky business: Orchestrating cellular signals at adherens junctions. Cell 112: 535-548.
129. Petrof G., Mellerio JE, McGrath JA. 2012. Desmosomal genodermatoses. Br J Dermatol 166: 36-45.
130. Presland R. B, BoggessD, Lewis SP, Hull C, Fleckman P, Sundberg JP. 2000. Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: An animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol 115: 1072-1081.
131. Proksch E., Brandner JM, Jensen JM. 2008. The skin: An indispensable barrier. Exp Dermatol 17: 1063-1072.
132. Radner F. P, Streith IE, Schoiswohl G, Schweiger M, Kumari M, Eichmann TO, Rechberger G, Koefeler HC, Eder S, Schauer S., et al. 2010. Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem 285: 7300-7311.
133. Radner F. P, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B., Abid L, Leipoldt M, Turki H, SchemppW, et al. 2013. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet 9: e1003536.
134. Reichelt J., BussowH, Grund C, Magin TM. 2001. Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice. Mol Biol Cell 12: 1557-1568.
135. Rice R. H, Green H. 1977. The cornified envelope of terminally differentiated human epidermal keratinocytes consists of cross-linked protein. Cell 11: 417-422.
136. Rice R. H, Green H. 1979. Presence in human epidermal cells of a soluble protein precursor of the cross-linked envelope: Activation of the cross-linking by calcium ions. Cell 18: 681-694.
137. RizzoWB. 2011. The role of fatty aldehyde dehydrogenase in epidermal structure and function. Dermatoendocrinology 3: 91-99.
138. Robertson E. D, Weir L, Romanowska M, Leigh IM, Panteleyev AA. 2012. ARNT controls the expression of epidermal differentiation genes through HDAC-and EGFR-dependent pathways. J Cell Sci 125: 3320-3332.
139. Rodriguez E., Baurecht H, Herberich E, Wagenpfeil S, Brown SJ, Cordell HJ, Irvine AD, Weidinger S. 2009. Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease. J Allergy Clin Immunol 123: 1361-1370 e1367.
140. Rodriguez-Martin M, Martin-Ezquerra G, Man MQ, Hupe M, Youm JK, Mackenzie DS, Cho S, Trullas C, Holleran WM, Radek KA, et al. 2011. Expression of epidermal CAMP changes in parallel with permeability barrier status. J Invest Dermatol 131: 2263-2270.
141. Roop D. R, Hawley-Nelson P, Cheng CK, Yuspa SH. 1983. Keratin gene expression in mouse epidermis and cultured epidermal cells. Proc Natl Acad Sci 80: 716-720.
142. Roth W., Kumar V, Beer HD, Richter M, Wohlenberg C, Reuter U., Thiering S, Staratschek-Jox A, Hofmann A, Kreusch F., et al. 2012. Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18. J Cell Sci 125: 5269-5279.
143. Rothnagel J. A, Dominey AM, Dempsey LD, Longley MA, Greenhalgh D. A, Gagne TA, Huber M, Frenk E, Hohl D, Roop D.R. 1992. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257: 1128-1130.
144. Ruhrberg C., Hajibagheri MA, Simon M, Dooley TP, Watt FM. 1996. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. J Cell Biol 134: 715-729.
145. Ruhrberg C., Hajibagheri MA, Parry DA, Watt FM. 1997. Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. J Cell Biol 139: 1835-1849.
146. Russell L. J, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ. 1995. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9: 279-283.
147. Sales K. U, Masedunskas A, Bey AL, Rasmussen AL, Weigert R, List K, Szabo R, Overbeek PA, Bugge TH. 2010. Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. Nat Genet 42: 676-683.
148. Sasaki T., Shiohama A, Kubo A, Kawasaki H, Ishida-Yamamoto A, Yamada T, Hachiya T, Shimizu A, Okano H, Kudoh J., et al. 2013. A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis. J Allergy Clin Immunol 132: 1111-1120.
149. Sassa T., Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, et al. 2013. Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very longchain fatty acid production. Mol Cell Biol 33: 2787-2796.
150. Saunders S. P, Goh CS, Brown SJ, Palmer CN, Porter RM, Cole C., Campbell LE, Gierlinski M, Barton GJ, Schneider G, et al. 2013. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol 132: 1121-1129.
151. Scharschmidt T. C, List K, Grice EA, Szabo R, Program NCS, Renaud G., Lee CC, Wolfsberg TG, Bugge TH, Segre JA. 2009a. Matriptase-deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota. J Invest Dermatol 129: 2435-2442.
152. Scharschmidt T. C, Man MQ, Hatano Y, Crumrine D, Gunathilake R, Sundberg JP, Silva KA, Mauro TM, Hupe M, Cho S., et al. 2009b. Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol 124: 496-506, 506. e1-6.
153. Schmuth M., Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J., Gruber R. 2013. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet 21: 123-133.
154. Schweizer J., Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DAD, Rogers MA, et al. 2006. New consensus nomenclature for mammalian keratins. J Cell Biol 174: 169-174.
155. Segre J.A. 2006. Epidermal barrier formation and recovery in skin disorders. J Clin Invest 116: 1150-1158.
156. Segre J. A, Bauer C, Fuchs E. 1999. Klf4 is a transcription factor required for establishing the barrier function of the skin. Nat Genet 22: 356-360.
157. Sevilla L. M, Nachat R, Groot KR, Klement JF, Uitto J, Djian P, Maatta A., Watt FM. 2007. Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier. J Cell Biol 179: 1599-1612.
158. Smith F. J, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell L. E, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, et al. 2006. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38: 337-342.
159. Smyth I., Hacking DF, Hilton AA, Mukhamedova N, Meikle PJ, Ellis S, Satterley K, Collinge JE, de Graaf CA, Bahlo M, et al. 2008. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet 4: e1000192.
160. Spacek D. V, Perez AF, Ferranti KM, Wu LK, Moy DM, Magnan DR, King TR. 2010. The mouse frizzy (fr) and rat "hairless" (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8). Exp Dermatol 19: 527-532.
161. Steinert P. M, Cantieri JS, Teller DC, Lonsdale-Eccles JD, Dale B.A. 1981. Characterization of a class of cationic proteins that specifically interact with intermediate filaments. Proc Natl Acad Sci 78: 4097-4101.
162. Sugawara T., Iwamoto N, Akashi M, Kojima T, Hisatsune J, Sugai M., Furuse M. 2013. Tight junction dysfunction in the stratum granulosum leads to aberrant stratum corneum barrier function in claudin-1-deficient mice. J Dermatol Sci 70: 12-18.
163. Sybert V. P, Dale BA, Holbrook KA. 1985. Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 84: 191-194.
164. Takagi S., Tojo H, Tomita S, Sano S, Itami S, Hara M, Inoue S, Horie K., Kondoh G, Hosokawa K, et al. 2003. Alteration of the 4-sphingenine scaffolds of ceramides in keratinocyte-specific Arnt-deficient mice affects skin barrier function. J Clin Invest 112: 1372-1382.
165. Ting S. B, Caddy J, Hislop N, Wilanowski T, Auden A, Zhao LL, Ellis S, Kaur P, Uchida Y, Holleran WM, et al. 2005. A homolog of Drosophila grainy head is essential for epidermal integrity in mice. Science 308: 411-413.
166. Tsuji S., Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI. 1987. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 316: 570-575.
167. Tunggal J. A, Helfrich I, Schmitz A, Schwarz H, Gunzel D, Fromm M., Kemler R, Krieg T, Niessen CM. 2005. E-cadherin is essential for in vivo epidermal barrier function by regulating tight junctions. EMBO J 24: 1146-1156.
168. Turksen K., Troy TC. 2002. Permeability barrier dysfunction in transgenic mice overexpressing claudin 6. Development 129: 1775-1784.
169. Vasireddy V., Uchida Y, Salem N Jr, Kim SY, Mandal MN, Reddy G. B, Bodepudi R, Alderson NL, Brown JC, Hama H, et al. 2007. Loss of functional ELOVL4 depletes very long-chain fatty acids (. or 1/4C28) and the unique v-Oacylceramides in skin leading to neonatal death. Hum Mol Genet 16: 471-482.
170. Wallace L., Roberts-Thompson L, Reichelt J. 2012. Deletion of K1/K10 does not impair epidermal stratification but affects desmosomal structure and nuclear integrity. J Cell Sci 125: 1750-1758.
171. Wilson D. R, Maibach HI. 1980. Transepidermal water loss in vivo. Prematureandterminfants. BiolNeonate37:180-185.
172. Yanagi T., Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H. 2008. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 17: 3075-3083.
173. Yang T., Liang D, Koch PJ, Hohl D, Kheradmand F, Overbeek PA. 2004. Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/-mice. Genes Dev 18: 2354-2358.
174. Yonemura S. 2011. Cadherin-actin interactions at adherens junctions. Curr Opin Cell Biol 23: 515-522.
175. Zheng Y., Yin H, Boeglin WE, Elias PM, Crumrine D, Beier DR, Brash AR. 2011. Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: A proposed role in releasing v-hydroxyceramide for construction of the corneocyte lipid envelope. J Biol Chem 286: 24046-24056.
176. Zhu S., Oh HS, Shim M, Sterneck E, Johnson PF, Smart RC. 1999. C/EBP-b modulates the early events of keratinocyte differentiation involving growth arrest and keratin 1 and keratin 10 expression. Mol Cell Biol 19: 7181-7190.
177. Zuo Y., Zhuang DZ, HanR, Isaac G, Tobin JJ, McKee M, Welti R, Brissette JL, Fitzgerald ML, Freeman MW. 2008. ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem 283: 36624-36635.