Das Interreg IV Programm

Interreg IV Italien - Österreich ist Teil der Förderprogramme im Rahmen des Ziels „Europäische territoriale Zusammenarbeit für die Periode 2007-2013“.



Epidermolysis bullosa hereditaria (1980 – 2011)

1. Hintner, H. et al. Expression of basement membrane zone antigens at the dermo-epibolic junction in organ cultures of human skin. J. Invest Dermatol. 74, 200-204 (1980).


2.   Hintner, H. et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases. J. Invest Dermatol. 76, 113-118 (1981).


3.   Hintner, H. & Wolff, K. Generalized Atrophic Benign Epidermolysis Bullosa. Archives of Dermatology 118, 375-384 (1982).


4.   Fine, J. D., Breathnach, S. M., Hintner, H. & Katz, S. I. KF-1 monoclonal antibody defines a specific basement membrane antigen defect in dystrophic forms of epidermolysis bullosa. J. Invest Dermatol. 82, 35-38 (1984).


5.   Caughman, S. W., Krieg, T., Timpl, R., Hintner, H. & Katz, S. I. Nidogen and heparan sulfate proteoglycan: detection of newly isolated basement membrane components in normal and epidermolysis bullosa skin. J. Invest Dermatol. 89, 547-550 (1987).


6.   Grubauer, G., Hintner, H., Klein, G. & Fritsch, P. [Acquired, surface giant nevus cell nevi in generalized, atrophic, benign epidermolysis bullosa]. Hautarzt 40, 523-526 (1989).


7.   Pohla-Gubo, G. et al. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp. Dermatol. 4, 199-206 (1995).


8.   McGrath, J. A. et al. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J. Invest Dermatol. 106, 771-774 (1996).


9.   Darling, T. N. et al. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J. Invest Dermatol. 108, 463-468 (1997).


10.   Darling, T. N. et al. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J. Invest Dermatol. 110, 165-169 (1998).


11.   Rouan, F. et al. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J. Invest Dermatol. 111, 1210-1213 (1998).


12.   Bauer, J. W. et al. Ocular involvement in IgA-epidermolysis bullosa acquisita. British Journal of Dermatology 141, 887-892 (1999).


13.   Bauer, J. W. et al. [Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene]. Hautarzt 50, 121-126 (1999).


14.   Darling, T. N., Yee, C., Bauer, J. W., Hintner, H. & Yancey, K. B. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J. Clin. Invest 103, 1371-1377 (1999).


15.   Fine, J. D. et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. Journal of the American Academy of Dermatology 42, 1051-1066 (2000).


16.   Bauer, J. W. et al. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. American Journal of Pathology 158, 617-625 (2001).


17.   Bauer, J. W., Schaeppi, H., Kaserer, C., Hantich, B. & Hintner, H. Large melanocytic nevi in hereditary epidermolysis bullosa. J. Am. Acad. Dermatol. 44, 577-584 (2001).


18.   Klausegger, A. et al. Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J. Invest Dermatol. 116, 474-475 (2001).


19.   Weber, F. et al. Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa. Acta Derm. Venereol. 81, 189-192 (2001).


20.   Lanschuetzer, C. M. et al. Epidermolysis bullosa hereditaria. Pädiat. prax. 62, 307-328 (2002).


21.   Bauer, J. W. & Lanschuetzer, C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clinical and Experimental Dermatology 28, 53-60 (2003).


22.   Dallinger, G. et al. Development of spliceosome-mediated RNA trans-splicing (SMaRT (TM)) for the correction of inherited skin diseases. Experimental Dermatology 12, 37-46 (2003).

23.   Lanschuetzer, C. M. et al. Pathogenic mechanisms in epidermolysis bullosa naevi. Acta Derm. Venereol. 83, 332-337 (2003).


24.   Lanschuetzer, C. M. et al. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. J. Cutan. Pathol. 30, 553-560 (2003).


25.   Lanschuetzer, C. M. et al. A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Kobner. Clinical and Experimental Dermatology 28, 77-79 (2003).


26.   Buchroithner, B. et al. Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. Lab Invest 84, 1279-1288 (2004).


27.   Lanschuetzer, C. M. et al. Telepathology using immunofluorescence/immunoperoxidase microscopy. J. Telemed. Telecare. 10, 39-43 (2004).


28.   Lanschuetzer, C. M. et al. Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern. British Journal of Dermatology 153, 97-102 (2005).


29.   Sadler, E. et al. [Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene]. J. Dtsch. Dermatol. Ges. 3, 359-363 (2005).


30.   Laimer, M. et al. Epidermolysis bullosa. Pädiatrie&Pädologie 6, 30-38 (2006).


31.   Laimer, M., Lanschuetzer, C., Hintner, H. & Bauer, J. W. Current approaches to cutaneous gene therapy. Expert Rev. Dermatol. 1, 833-853 (2006).


32.   Laimer, M. et al. Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa. British Journal of Dermatology 154, 185-187 (2006).

33.   Mavilio, F. et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med. 12, 1397-1402 (2006).

34.   Sadler, E. et al. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Archives of Dermatology 142, 1619-1624 (2006).


35.   Sadler, E. et al. Treatment-resistant classical epidermolysis bullosa acquisita responding to rituximab. Br. J. Dermatol. 157, 417-419 (2007).


36.   Fine, J. D. et al. 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).


37.   Kivisaari, A. K. et al. Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. Br. J. Dermatol. 158, 778-785 (2008).


38.   Wally, V. et al. 5' trans-splicing repair of the PLEC1 gene. J. Invest Dermatol. 128, 568-574 (2008).


39.   Laimer, M. et al. [Orogenital and conjunctival involvement in hereditary and autoimmune blistering diseases]. Hautarzt 60, 881-890 (2009).


40.   Laimer, M. et al. [Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa]. Hautarzt 60, 378-388 (2009).


41.   Riedl, E., Klausegger, A., Bauer, J. W., Foedinger, D. & Kittler, H. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Pediatr. Dermatol. 26, 115-117 (2009).


42.   Laimer, M. et al. Epidermolysis bullosa. Klinik, Diagnostik, Therapie und Vorstellung des Projektes "Epidermolysis bullosa Haus ", einem multidispiplinären Zugang zu dieser seltenen Erkrankung. Pädiatrie&Pädologie 6, 30-38 (2010).


43.   Laimer, M., Lanschuetzer, C. M., Diem, A. & Bauer, J. W. Herlitz junctional epidermolysis bullosa. Dermatol. Clin. 28, 55-60 (2010).


44.   Lanschuetzer, C. M., Laimer, M., Nischler, E. & Hintner, H. Epidermolysis bullosa nevi. Dermatol. Clin. 28, 179-183 (2010).


45.   Wally, V. et al. K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum. Mol. Genet. 19, 4715-4725 (2010).


46.   Yancey, K. B. & Hintner, H. Non-herlitz junctional epidermolysis bullosa. Dermatol. Clin. 28, 67-77 (2010).


47.   Gruber, C. et al. Spliceosome-mediated RNA trans-splicing facilitates targeted delivery of suicide genes to cancer cells. Mol Cancer Ther 10, 233-241 (2011).


48.   Koller, U. et al. A novel screening system improves genetic correction by internal exon replacement. Nucleic Acids Res. 39, e108 (2011).


49.   Murauer, E. M. et al. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J. Invest Dermatol. 131, 74-83 (2011).

50.   Pohla-Gubo, G. & Hintner, H. Direct and indirect immunofluorescence for the diagnosis of bullous autoimmune diseases. Dermatol. Clin. 29, 365-372 (2011).