1. McMillan J. R., Akiyama M., Shimizu H. Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions. J. Dermatol. Sci. 31, 169-177. (2003).
2. Hopkinson S. B., Hamill K. J., Wu Y., Eisenberg J. L., Hiroyasu S., Jones J. C. Focal Contact and Hemidesmosomal Proteins in Keratinocyte Migration and Wound Repair. Adv Wound Care (New Rochelle) 3, 247-263. (2014).
3. Uematsu J., Nishizawa Y., Sonnenberg A., Owaribe K. Demonstration of type II hemidesmosomes in a mammary gland epithelial cell line, BMGE-H. J. Biochem. 115, 469-476. (1994).
4. Borradori L., Sonnenberg A. Structure and function of hemidesmosomes: more than simple adhesion complexes. J. Invest. Dermatol. 112, 411-418. (1999).
5. Franzke C. W., Tasanen K., Schumann H., Bruckner-Tuderman L. Collagenous transmembrane proteins: collagen XVII as a prototype. Matrix Biol. 22, 299-309. (2003).
6. Giudice G. J., Emery D. J., Diaz L. A. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J. Invest. Dermatol. 99, 243-250. (1992).
7. Hirako Y., Usukura J., Nishizawa Y., Owaribe K. Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen and its potential for trimer formation. J. Biol. Chem. 271, 13739-13745. (1996).
8. McGrath J. A., Gatalica B., Christiano A. M., Li K., Owaribe K., McMillan J. R., Eady R. A., Uitto J. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat. Genet. 11, 83-86. (1995).
9. Nishie W., Sawamura D., Goto M., Ito K., Shibaki A., McMillan J. R., Sakai K., Nakamura H., Olasz E., Yancey K. B., Akiyama M., Shimizu H. Humanization of autoantigen. Nat. Med. 13, 378-383. (2007).
10. Nishie W. Update on the pathogenesis of bullous pemphigoid: an autoantibody- mediated blistering disease targeting collagen XVII. J. Dermatol. Sci. 73, 179-186. (2014).
11. Rezniczek G. A., Walko G., Wiche G. Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Dermatol. Clin. 28, 33-41. (2010).
12. Smith F. J., Eady R. A., Leigh I. M., McMillan J. R., Rugg E. L., Kelsell D. P., Bryant S. P., Spurr N. K., Geddes J. F., Kirtschig G., Milana G., de Bono A. G., Owaribe K., Wiche G., Pulkkinen L., Uitto J., McLean W. H., Lane E. B. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat. Genet. 13, 450-457. (1996).
13. Fine J. D., Eady R. A., Bauer E. A., Bauer J. W., Bruckner-Tuderman L., Heagerty A., Hintner H., Hovnanian A., Jonkman M. F., Leigh I., McGrath J. A., Mellerio J. E., Murrell D. F., Shimizu H., Uitto J., Vahlquist A., Woodley D., Zambruno G. 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, 931-950. (2008).
14. Green K. J., Virata M. L., Elgart G. W., Stanley J. R., Parry D. A. Comparative structural analysis of desmoplakin, bullous pemphigoid antigen and plectin: members of a new gene family involved in organization of intermediate filaments. Int. J. Biol. Macromol. 14, 145-153. (1992).
15. Tanaka T., Parry D. A., Klaus-Kovtun V., Steinert P. M., Stanley J. R. Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins. J. Biol. Chem. 266, 12555-12559. (1991).
16. Sawamura D., Li K., Chu M. L., Uitto J. Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. J. Biol. Chem. 266, 17784-17790. (1991).
17. Thoma-Uszynski S., Uter W., Schwietzke S., Hofmann S. C., Hunziker T., Bernard P., Treudler R., Zouboulis C. C., Schuler G., Borradori L., Hertl M. BP230- and BP180-specific auto-antibodies in bullous pemphigoid. J. Invest. Dermatol. 122, 1413-1422. (2004).
18. Hynes R. O. Integrins: versatility, modulation, and signaling in cell adhesion. Cell 69, 11-25. (1992).
19. Pulkkinen L., Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 18, 29-42. (1999).
20. van der Neut R., Krimpenfort P., Calafat J., Niessen C. M., Sonnenberg A. Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice. Nat. Genet. 13, 366-369. (1996).
21. Dowling J., Yu Q. C., Fuchs E. Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J. Cell Biol. 134, 559-572. (1996).
22. Raymond K., Kreft M., Janssen H., Calafat J., Sonnenberg A. Keratinocytes display normal proliferation, survival and differentiation in conditional beta4-integrin knockout mice. J. Cell Sci. 118, 1045-1060. (2005).
23. Ruzzi L., Gagnoux-Palacios L., Pinola M., Belli S., Meneguzzi G., D'Alessio M., Zambruno G. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J. Clin. Invest. 99, 2826-2831. (1997).
24. Vidal F., Aberdam D., Miquel C., Christiano A. M., Pulkkinen L., Uitto J., Ortonne J. P., Meneguzzi G. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat. Genet. 10, 229-234. (1995).
25. Has C., Bauer J. W., Bodemer C., Bolling M. C., Bruckner-Tuderman L., Diem A., Fine J. D., Heagerty A., Hovnanian A., Marinkovich M. P., Martinez A. E., McGrath J. A., Moss C., Murrell D. F., Palisson F., Schwieger-Briel A., Sprecher E., Tamai K., Uitto J., Woodley D. T., Zambruno G., Mellerio J. E. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br. J. Dermatol. 183, 614-627. (2020).
26. Fontao L., Tasanen K., Huber M., Hohl D., Koster J., Bruckner-Tuderman L., Sonnenberg A., Borradori L. 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. (2004).
27. Natsuga K., Nishie W., Nishimura M., Shinkuma S., Watanabe M., Izumi K., Nakamura H., Hirako Y., Shimizu H. Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex. Hum. Mutat. 38, 1666-1670. (2017).
28. Lien W. H., Polak L., Lin M., Lay K., Zheng D., Fuchs E. In vivo transcriptional governance of hair follicle stem cells by canonical Wnt regulators. Nat. Cell Biol. 16, 179-190. (2014).
29. Lu C. P., Polak L., Rocha A. S., Pasolli H. A., Chen S. C., Sharma N., Blanpain C., Fuchs E. Identification of stem cell populations in sweat glands and ducts reveals roles in homeostasis and wound repair. Cell 150, 136-150. (2012).
30. Lim X., Nusse R. Wnt signaling in skin development, homeostasis, and disease. Cold Spring Harb. Perspect. Biol. 5. (2013).
31. Farooqi A. A., Naureen H., Attar R. Regulation of cell signaling pathways by circular RNAs and microRNAs in different cancers: Spotlight on Wnt/β-catenin, JAK/STAT, TGF/SMAD, SHH/GLI, NOTCH and Hippo pathways. Semin Cell Dev Biol. (2021).
32. Moon R. T., Kohn A. D., De Ferrari G. V., Kaykas A. WNT and beta-catenin signalling: diseases and therapies. Nat. Rev. Genet. 5, 691-701. (2004).
33. Clevers H., Nusse R. Wnt/β-catenin signaling and disease. Cell 149, 1192-1205. (2012).
34. Lu C., Fuchs E. Sweat gland progenitors in development, homeostasis, and wound repair. Cold Spring Harb. Perspect. Med. 4 (2014).
35. Weiss P., Ferris W. Electronmicrograms of larval amphibian epidermis. Exp. Cell Res. 6, 546-549. (1954).
36. Shienvold F. L., Kelly D. E. The hemidesmosome: new fine structural features revealed by freeze-fracture techniques. Cell Tissue Res 172, 289-307. (1976).
37. Odland G. F. The fine structure of the interrelationship of cells in the human epidermis. J. Biophys. Biochem. Cytol. 4, 529-538. (1958).
38. Arwill T., Bergenholtz A., Thilander H. Epidermolysis bullosa hereditaria. 5. The ultrastructure of oral mucosa and skin in four cases of the letalis form. Acta Pathol. Microbiol. Scand. 74, 311-324. (1968).
39. Hintner H., Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch. Dermatol. 118, 375-384. (1982).
40. Mutasim D. F., Takahashi Y., Labib R. S., Anhalt G. J., Patel H. P., Diaz L. A. A pool of bullous pemphigoid antigen(s) is intracellular and associated with the basal cell cytoskeleton- hemidesmosome complex. J. Invest. Dermatol. 84, 47-53. (1985).
41. Stepp M. A., Spurr-Michaud S., Tisdale A., Elwell J., Gipson I. K. Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes. Proc. Natl. Acad. Sci. U. S. A. 87, 8970-8974. (1990).
42. Hopkinson S. B., Riddelle K. S., Jones J. C. Cytoplasmic domain of the 180-kD bullous pemphigoid antigen, a hemidesmosomal component: molecular and cell biologic characterization. J. Invest. Dermatol. 99, 264-270. (1992).
43. Owaribe K., Kartenbeck J., Stumpp S., Magin T. M., Krieg T., Diaz L. A., Franke W. W. The hemidesmosomal plaque. I. Characterization of a major constituent protein as a differentiation marker for certain forms of epithelia. Differentiation 45, 207-220. (1990).
44. Hieda Y., Nishizawa Y., Uematsu J., Owaribe K. Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes. J. Cell Biol. 116, 1497-1506. (1992).
45. Spinardi L., Ren Y. L., Sanders R., Giancotti F. G. The beta 4 subunit cytoplasmic domain mediates the interaction of alpha 6 beta 4 integrin with the cytoskeleton of hemidesmosomes. Mol. Biol. Cell 4, 871-884. (1993).
46. Spinardi L., Einheber S., Cullen T., Milner T. A., Giancotti F. G. A recombinant tail- less integrin beta 4 subunit disrupts hemidesmosomes, but does not suppress alpha 6 beta 4- mediated cell adhesion to laminins. J. Cell Biol. 129, 473-487. (1995).
47. Mainiero F., Pepe A., Wary K. K., Spinardi L., Mohammadi M., Schlessinger J., Giancotti F. G. Signal transduction by the alpha 6 beta 4 integrin: distinct beta 4 subunit sites mediate recruitment of Shc/Grb2 and association with the cytoskeleton of hemidesmosomes. EMBO J. 14, 4470-4481. (1995).
48. Mainiero F., Pepe A., Yeon M., Ren Y., Giancotti F. G. The intracellular functions of alpha6beta4 integrin are regulated by EGF. J. Cell Biol. 134, 241-253. (1996).
49. Geerts D., Fontao L., Nievers M. G., Schaapveld R. Q., Purkis P. E., Wheeler G. N., Lane E. B., Leigh I. M., Sonnenberg A. Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding. J. Cell Biol. 147, 417-434. (1999).
50. Koster J., Kuikman I., Kreft M., Sonnenberg A. Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. J. Invest. Dermatol. 117, 1405-1411. (2001).
51. Koster J., van Wilpe S., Kuikman I., Litjens S. H., Sonnenberg A. Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes. Mol. Biol. Cell 15, 1211-1223. (2004).
52. Rabinovitz I., Tsomo L., Mercurio A. M. Protein kinase C-alpha phosphorylation of specific serines in the connecting segment of the beta 4 integrin regulates the dynamics of type II hemidesmosomes. Mol Cell Biol 24, 4351-4360. (2004).
53. Watanabe M., Natsuga K., Nishie W., Kobayashi Y., Donati G., Suzuki S., Fujimura Y., Tsukiyama T., Ujiie H., Shinkuma S., Nakamura H., Murakami M., Ozaki M., Nagayama M., Watt F. M., Shimizu H. Type XVII collagen coordinates proliferation in the interfollicular epidermis. Elife. 6. (2017).
54. Natsuga K., Nishie W., Akiyama M., Nakamura H., Shinkuma S., McMillan J. R., Nagasaki A., Has C., Ouchi T., Ishiko A., Hirako Y., Owaribe K., Sawamura D., Bruckner- Tuderman L., Shimizu H. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Hum. Mutat. 31, 308-316. (2010).
55. Ujiie H., Sasaoka T., Izumi K., Nishie W., Shinkuma S., Natsuga K., Nakamura H., Shibaki A., Shimizu H. Bullous pemphigoid autoantibodies directly induce blister formation without complement activation. J. Immunol. 193, 4415-4428. (2014).
56. Boukamp P., Petrussevska R. T., Breitkreutz D., Hornung J., Markham A., Fusenig N. E. Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line. J. Cell Biol. 106, 761-771. (1988).
57. Kitajima Y., Inoue S., Yaoita H. Effects of pemphigus antibody on the regeneration of cell-cell contact in keratinocyte cultures grown in low to normal Ca++ concentration. J. Invest. Dermatol. 89, 167-171. (1987).
58. Niemann C., Owens D. M., Hulsken J., Birchmeier W., Watt F. M. Expression of DeltaNLef1 in mouse epidermis results in differentiation of hair follicles into squamous epidermal cysts and formation of skin tumours. Development. 129, 95-109. (2002).
59. Hirako Y., Yonemoto Y., Yamauchi T., Nishizawa Y., Kawamoto Y., Owaribe K. Isolation of a hemidesmosome-rich fraction from a human squamous cell carcinoma cell line. Exp. Cell Res. 324, 172-182. (2014).
60. Emami K. H., Nguyen C., Ma H., Kim D. H., Jeong K. W., Eguchi M., Moon R. T., Teo J. L., Kim H. Y., Moon S. H., Ha J. R., Kahn M. A small molecule inhibitor of beta- catenin/CREB-binding protein transcription [corrected]. Proc. Natl. Acad. Sci. U. S. A. 101, 12682-12687. (2004).
61. Proffitt K. D., Madan B., Ke Z., Pendharkar V., Ding L., Lee M. A., Hannoush R. N., Virshup D. M. Pharmacological inhibition of the Wnt acyltransferase PORCN prevents growth of WNT-driven mammary cancer. Cancer Res. 73, 502-507. (2013).
62. Shinkuma S., Guo Z., Christiano A. M. Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. Proc. Natl. Acad. Sci. U. S. A. 113, 5676-5681. (2016).
63. Takashima S., Shinkuma S., Fujita Y., Nomura T., Ujiie H., Natsuga K., Iwata H., Nakamura H., Vorobyev A., Abe R., Shimizu H. Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9. J. Invest. Dermatol. 139, 1711-1721 e1714. (2019).
64. Bryja V., Schulte G., Arenas E. Wnt-3a utilizes a novel low dose and rapid pathway that does not require casein kinase 1-mediated phosphorylation of Dvl to activate beta-catenin. Cell. Signal. 19, 610-616. (2007).
65. Natsuga K. Plectin-related skin diseases. J. Dermatol. Sci. 77, 139-145. (2015).
66. Koster J., Geerts D., Favre B., Borradori L., Sonnenberg A. Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. J. Cell Sci. 116, 387-399. (2003).
67. Hirako Y., Owaribe K. Hemidesmosomes and their unique transmembrane protein BP180. Microsc. Res. Tech. 43, 207-217. (1998).
68. Li Y., Zhang J., Cheng Z., Wang Y., Huang T., Lai K., Du X., Jiang Z., Yang G. Adenovirus-Mediated LAMA3 Transduction Enhances Hemidesmosome Formation and Periodontal Reattachment during Wound Healing. Mol Ther Methods Clin Dev 18, 291-303. (2020).
69. Castanon M. J., Walko G., Winter L., Wiche G. Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve. Histochem. Cell Biol. 140, 33-53. (2013).
70. Osmanagic-Myers S., Wiche G. Plectin-RACK1 (receptor for activated C kinase 1) scaffolding: a novel mechanism to regulate protein kinase C activity. J. Biol. Chem. 279, 18701- 18710. (2004).
71. Iwata H., Kamaguchi M., Ujiie H., Nishimura M., Izumi K., Natsuga K., Shinkuma S., Nishie W., Shimizu H. Macropinocytosis of type XVII collagen induced by bullous pemphigoid IgG is regulated via protein kinase C. Lab. Invest. 96, 1301-1310. (2016).
72. Toullec D., Pianetti P., Coste H., Bellevergue P., Grand-Perret T., Ajakane M., Baudet V., Boissin P., Boursier E., Loriolle F., et al. The bisindolylmaleimide GF 109203X is a potent and selective inhibitor of protein kinase C. J. Biol. Chem. 266, 15771-15781. (1991).
73. Kjær S., Linch M., Purkiss A., Kostelecky B., Knowles P. P., Rosse C., Riou P., Soudy C., Kaye S., Patel B., Soriano E., Murray-Rust J., Barton C., Dillon C., Roffey J., Parker P. J., McDonald N. Q. Adenosine-binding motif mimicry and cellular effects of a thieno[2,3-d]pyrimidine-based chemical inhibitor of atypical protein kinase C isoenzymes. Biochem. J. 451, 329-342. (2013).
74. Sorial A. K., Hofer I. M. J., Tselepi M., Cheung K., Parker E., Deehan D. J., Rice S. J., Loughlin J. Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC. Osteoarthritis Cartilage. 28, 1448-1458. (2020).
75. Yin H., Han S., Cui C., Wang Y., Li D., Zhu Q. Plectin regulates Wnt signaling mediated-skeletal muscle development by interacting with Dishevelled-2 and antagonizing autophagy. Gene. 783, 145562. (2021).
76. Suzuki A., Ohno S. The PAR-aPKC system: lessons in polarity. J. Cell Sci. 119, 979-987. (2006).
77. Liu N., Matsumura H., Kato T., Ichinose S., Takada A., Namiki T., Asakawa K., Morinaga H., Mohri Y., De Arcangelis A., Geroges-Labouesse E., Nanba D., Nishimura E. K. Stem cell competition orchestrates skin homeostasis and ageing. Nature 568, 344-350.(2019).
78. Matsumura H., Liu N., Nanba D., Ichinose S., Takada A., Kurata S., Morinaga H., Mohri Y., De Arcangelis A., Ohno S., Nishimura E. K. Distinct types of stem cell divisions determine organ regeneration and aging in hair follicles. Nature Aging 1, 190-204. (2021).
79. Has C., South A., Uitto J. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020. Mol. Diagn. Ther. 24, 299-309. (2020).
80. Hawkshaw N. J., Hardman J. A., Haslam I. S., Shahmalak A., Gilhar A., Lim X., Paus R. Identifying novel strategies for treating human hair loss disorders: Cyclosporine A suppresses the Wnt inhibitor, SFRP1, in the dermal papilla of human scalp hair follicles. PLoS Biol. 16, e2003705. (2018).
81. Andl T., Reddy S. T., Gaddapara T., Millar S. E. WNT signals are required for the initiation of hair follicle development. Dev. Cell 2, 643-653. (2002).
82. Matsumura W., Fujita Y., Shinkuma S., Suzuki S., Yokoshiki S., Goto H., Hayashi H., Ono K., Inoie M., Takashima S., Nakayama C., Nomura T., Nakamura H., Abe R., Sato N., Shimizu H. Cultured Epidermal Autografts from Clinically Revertant Skin as a Potential Wound Treatment for Recessive Dystrophic Epidermolysis Bullosa. J. Invest. Dermatol. 139, 2115- 2124.e2111. (2019).
83. Green H. Cultured cells for the treatment of disease. Sci. Am. 265, 96-102. (1991).
84. Horsley V., Aliprantis A. O., Polak L., Glimcher L. H., Fuchs E. NFATc1 balances quiescence and proliferation of skin stem cells. Cell 132, 299-310. (2008).