Progress in epidermolysis Bullosa research: Summary of DEBRA international research conference 2012

Journal of Investigative Dermatology

Volumn 133, Issue 9, 2013, Pages 2121-2126

  Bruckner Tuderman, Leena ^a   Mcgrath, John A ^b   Robinson, E Clare ^c   Uitto, Jouni ^d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c DEBRA International   (Austria)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOXYCYCLINE; KALININ; TAMOXIFEN;

BONE MARROW TRANSPLANTATION; CANCER GENE THERAPY; CELL THERAPY; CONFERENCE PAPER; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; MEDICAL RESEARCH; MOLECULAR THERAPY; NONHUMAN; PATIENT ADVOCACY; PHENOTYPE; PRIORITY JOURNAL; SOMATIC GENE THERAPY; SPONTANEOUS MUTATION; SQUAMOUS CELL CARCINOMA;

EID: 84884396866     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.127     Document Type: Conference Paper

References (52)

1. Adair-Kirk TL, Griffin GL, Meyer MJ et al. (2012) Keratinocyte-Targeted expression of human laminin gamma2 rescues skin blistering and early lethality of laminin gamma2 deficient mice. PLoS One 7:e45546
2. Arbiser JL, Fan CY, Su X et al. (2004) Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosaassociated squamous cell carcinoma. J Invest Dermatol 123:788-90
3. Bruckner-Tuderman L, McGrath JA, Robinson EC et al. (2010) Animal models of epidermolysis bullosa: Update 2010. J Invest Dermatol 130:1485-8
4. Bubier JA, Sproule TJ, Alley LM et al. (2010) A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 130:1819-28
5. Carretero M, Guerrero-Aspizua S, Del Rio M (2011) Applicability of bioengineered human skin: From preclinical skin humanized mouse models to clinical regenerative therapies. Bioeng Bugs 2:203-7
6. Conget P, Rodriguez F, Kramer S et al. (2010) 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 12:429-31
7. De Luca M, Pellegrini G, Mavilio F (2009) Gene therapy of inherited skin adhesion disorders: A critical overview. Br J Dermatol 161:19-24
8. de Souza MP, Rangel Miller V (2012) Significance of patient registries for dermatological disorders. J Invest Dermatol 132:1749-52
9. Di Salvio M, Piccinni E, De Zenzo G et al. (2012) Diverse TGF-beta signaling in fibroblasts from phenotypically discordant monozygotic twins with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 132:S90, (Abstract
10. 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 58:931-950
11. Fine JD, Johnson LB, Weiner M et al. (2009) Epidermolysis bullosa and the risk of life-Threatening cancers: The National EB Registry experience, 1986-2006. J Am Acad Dermatol 60:203-11
12. Fine JD, Mellerio JE (2009) Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part II. Other organs. J Am Acad Dermatol 61:387-402
13. Gache Y, Pin D, Gagnoux-Palacios L et al. (2011) Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol 131:2069-78
14. Gedde-Dahl T (1986) Clinical heterogeneity in epidermolysis bullosa: Speculations on causation and consequence for research. J Invest Dermatol 86:91-3
15. Groves RW, Liu L, Dopping-Hepenstal PJ et al. (2010) A homozygous nonsense mutation within the dystonin 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 130:1551-7
16. Has C, Sparta G, Kiritsi D et al. (2012) Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508-14
17. Itoh M, Kiuru M, Cairo MS et al. (2011) Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci USA 108:8797-802
18. Jobard F, Bouadjar B, Caux F et al. (2003) Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 12:925-35
19. Jonkman MF, Pasmooij AM, Pasmans SG et al. (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653-60
20. Kiritsi D, Cosgarea I, Franzke CW et al. (2010) Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol 130:1741-6
21. Kü ttner V, Mack C, Rigbolt KTG et al. (2013) Global remodeling of cellular microenvironment due to loss of collagen VII. Mol Syst Biol (in press
22. Lai-Cheong JE, McGrath JA, Uitto J (2011) Revertant mosaicism in skin: Natural gene therapy. Trends Mol Med 17:140-8
23. Martins V, Caley M, Moore K et al. (2012) Loss of keratinocyte type VII collagen in SCC increases TGF-beta signaling and angiogenesis. J Invest Dermatol 132:S45, (Abstract)
24. Mavilio F, Pellegrini G, Ferrari S et al. (2006) Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 12:1397-402
25. McGrath JA, McMillan JR, Shemanko CS et al. (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240-4
26. McGrath JA, Stone KL, Begum R et al. (2012) Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility. Am J Hum Genet 91:1115-21
27. McLean WH, Irvine AD, Hamill KJ et al. (2003) An unusual N-Terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngoonycho-cutaneous syndrome. Hum Mol Genet 12:2395-409
28. Meng X, Klement JF, Leperi DA et al. (2003) Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol 121:720-31
29. Nagy N, Almaani N, Tanaka A et al. (2011) HBEGF induces COL7A1 expression in keratinocytes and fibroblasts: Possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol 131:1771-4
30. Ng YZ, Pourreyron C, Salas-Alanis JC et al. (2012) Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res 72:3522-34
31. Nyström A, Buttgereit J, Bader M et al. (2013) Rat model for DDEB: Glycine substitution reduces C7 stability and shows gene-dosage effect. PLoS One (in press
32. Pasmooij AM, Jonkman MF (2012) First symposium on natural gene therapy of the skin. Exp Dermatol 21:236-9
33. Pigors M, Kiritsi D, Krumpelmann S et al. (2011) Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity. Hum Mol Genet 20:1811-9
34. Pourreyron C, Cox G, Mao X et al. (2007) Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol 127:2438-44
35. Remington J, Wang X, Hou Y et al. (2009) Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther 17:26-33
36. Sanz-Moreno V, Gaggioli C, Yeo M et al. (2011) ROCK and JAK1 signaling cooperate to control actomyosin contractility in tumor cells and stroma. Cancer Cell 20:229-45
37. Siegel DH, Ashton GH, Penagos HG et al. (2003) Loss of kindlin-1, ahuman homolog of the Caenorhabditis elegans actin-extracellularmatrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 73: 174-87
38. Terry SF, Terry PF, Rauen KA et al. (2007) Advocacy groups as research organizations: The PXE International example. Nat Rev Genet 8:157-64
39. Titeux M, Pendaries V, Zanta-Boussif MA et al. (2010) SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa. Mol Ther 18:1509-18
40. Tolar J, Ishida-Yamamoto A, Riddle M et al. (2009) Amelioration of epidermolysis bullosa by transfer of wild-Type bone marrow cells. Blood 113:1167-74
41. Tolar J, Wagner JE (2012) Management of severe epidermolysis bullosa by haematopoietic transplant: Principles, perspectives and pitfalls. Exp Dermatol 21:896-900
42. Tolar J, Xia L, Lees CJ et al. (2013) Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. J Invest Dermatol 133:562-5
43. Uitto J (2012) Rare heritable skin diseases: Targets for regenerative medicine. J Invest Dermatol 132:2485-8
44. Uitto J, Christiano AM, McLean WHI et al. (2012) Novel molecular therapies for heritable skin disorders. J Invest Dermatol 132:820-8
45. Uitto J, McGrath JA, Rodeck U et al. (2010) Progress in epidermolysis bullosa research: Toward treatment and cure. J Invest Dermatol 130:1778-84
46. Umemoto H, Akiyama M, Domon T et al. (2012) Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts. Am J Pathol 181:1659-71
47. Wagner JE, Ishida-Yamamoto A, McGrath JA et al. (2010) Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 363:629-39
48. Wang NJ, Sanborn Z, Arnett KL et al. (2011) Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci USA 108:17761-6
49. Watt SA, Pourreyron C, Purdie K et al. (2011) Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma. Oncogene 30:4666-77
50. Wong T, Gammon L, Liu L et al. (2008) Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 128:2179-89
51. Woodley DT, Keene DR, Atha T et al. (2004) Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat Med 10:693-5
52. Woodley DT, Wang X, Amir M et al. (2013) Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Invest Dermatol 133:1910-3