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Originalarbeiten

  1. Sun Y, Pinon Hofbauer J, Harada M, Woss K, Koller U, Morio H, Stierschneider A, Kitamura K, Hashimoto M, Chiba K, Akita H, Anzai N, Reichelt J, Bauer JW, Guttmann-Gruber C, Furihata T. Cancer-type organic anion transporting polypeptide 1B3 is a target for cancer suicide gene therapy using RNA trans-splicing technology. Cancer letters 2018;433:107-16.
  2. Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder TK, Hofbauer P, Wolkersdorfer M, Lagler FB, Hitzl W, Laimer M, Kitzmuller S, Diem A, Bauer JW. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. J Am Acad Dermatol 2018;78:892-901 e7.
  3. Sun Y, Woess K, Kienzl M, Leb-Reichl VM, Feinle A, Wimmer M, Zauner R, Wally V, Luetz-Meindl U, Mellerio JE, Fuentes I, South AP, Bauer JW, Reichelt J, Furihata T, Guttmann-Gruber C, Pinon Hofbauer J. Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma. J Invest Dermatol 2018;138:1197-200.
  4. Morio H, Sun Y, Harada M, Ide H, Shimozato O, Zhou X, Higashi K, Yuki R, Yamaguchi N, Hofbauer JP, Guttmann-Gruber C, Anzai N, Akita H, Chiba K, Furihata T. Cancer-Type OATP1B3 mRNA in Extracellular Vesicles as a Promising Candidate for a Serum-Based Colorectal Cancer Biomarker. Biological & pharmaceutical bulletin 2018;41:445-9.
  5. Liemberger B, Pinon Hofbauer J, Wally V, Arzt C, Hainzl S, Kocher T, Murauer EM, Bauer JW, Reichelt J, Koller U. RNA Trans-Splicing Modulation via Antisense Molecule Interference. International journal of molecular sciences 2018;19.
  6. Prodinger C, Klausegger A, Diem A, Bauer JW, Laimer M. Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin. Journal of the European Academy of Dermatology and Venereology : JEADV 2017.
  7. Peking P, Koller U, Duarte B, Murillas R, Wolf S, Maetzig T, Rothe M, Kocher T, Garcia M, Brachtl G, Schambach A, Larcher F, Reichelt J, Bauer JW, Murauer EM. An RNA-targeted therapy for dystrophic epidermolysis bullosa. Nucleic Acids Res 2017;45:10259-69.
  8. Kocher T, Peking P, Klausegger A, Murauer EM, Hofbauer JP, Wally V, Lettner T, Hainzl S, Ablinger M, Bauer JW, Reichelt J, Koller U. Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases. Molecular therapy : the journal of the American Society of Gene Therapy 2017;25:2585-98.
  9. Hirsch T, Rothoeft T, Teig N, Bauer JW, Pellegrini G, DeRosa L, Scaglione D, Reichelt J, Klausegger A, Kneisz D, Romano O, Seconetti A, Contin R, Enzo E, Jurman I, Carulli S, Jacobsen F, Luecke T, Lenhardt M, Fischer M, Kueckelhaus M, Quaglino D, Morgante S, Bondanza S, DeLuca M. Regeneration of the entire human epidermis using transgenic stem cells. Nature 2017.
  10. Hainzl S, Peking P, Kocher T, Murauer EM, Larcher F, Del Rio M, Duarte B, Steiner M, Klausegger A, Bauer JW, Reichelt J, Koller U. COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. Molecular therapy : the journal of the American Society of Gene Therapy 2017.
  11. Bouge AL, Murauer E, Beyne E, Miro J, Varilh J, Taulan M, Koenig M, Claustres M, Tuffery-Giraud S. Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. Scientific reports 2017;7:39094.
  12. Aushev M, Koller U, Mussolino C, Cathomen T, Reichelt J. Traceless Targeting and Isolation of Gene- Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. Mol Ther-Meth Clin D 2017;6:112-23.
  13. Atanasova VS, Jiang Q, Prisco M, Gruber C, Pinon Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol 2017;137:1842-9.
  14. Tockner B, Kocher T, Hainzl S, Reichelt J, Bauer JW, Koller U, Murauer EM. Construction and validation of a RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations. Gene Ther 2016.
  15. Peking P, Koller U, Hainzl S, Kitzmueller S, Kocher T, Mayr E, Nystrom A, Lener T, Reichelt J, Bauer JW, Murauer EM. A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair. Mol Ther Nucleic Acids 2016;5:e287.
  16. Huttner C, Murauer EM, Hainzl S, Kocher T, Neumayer A, Reichelt J, Bauer JW, Koller U. Designing Efficient Double RNA trans-Splicing Molecules for Targeted RNA Repair. International journal of molecular sciences 2016;17.
  17. Cutlar L, Gao Y, Aied A, Greiser U, Murauer EM, Zhou D, Wang W. A knot polymer mediated non-viral gene transfection for skin cells. Biomaterials science 2016;4:92-5.
  18. Bauer JW, Koller J, Murauer EM, De RL, Enzo E, Carulli S, Bondanza S, Recchia A, Muss W, Diem A, Mayr E, Schlager P, Gratz IK, Pellegrini G, De LM. Closure of a large chronic wound through transplantation of gene-corrected epidermal stem cells. J Invest Dermatol 2016.
  19. Schosserer M, Reynoso R, Wally V, Jug B, Kantner V, Weilner S, Buric I, Grillari J, Bauer JW, Grillari-Voglauer R. Urine is a novel source of autologous mesenchymal stem cells for patients with epidermolysis bullosa. BMC Res Notes 2015;8:767.
  20. Lettner T, Lang R, Bauer JW, Wally V. Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2015;29:396-8.
  21. Koller U, Hainzl S, Kocher T, Huttner C, Klausegger A, Gruber C, Mayr E, Wally V, Bauer JW, Murauer EM. Trans-splicing improvement by the combined application of antisense strategies. Int J Mol Sci 2015;16:1179-91.
  22. Breitenbach JS, Rinnerthaler M, Trost A, Weber M, Klausegger A, Gruber C, Bruckner D, Reitsamer HA, Bauer JW, Breitenbach M. Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging. Aging-Us 2015;7:389-411.
  23. Breitenbach J, Gruber C, Klausegger A, Trost A, Bogner B, Reitsamer H, Bauer JW. Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa. J Dtsch Dermatol Ges 2015;13:1257-66.
  24. Koller U, Wally V, Bauer JW, Murauer EM. Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders. Mol Ther Nucleic Acids 2014;3:e157.
  25. Wally V, Lettner T, Peking P, Peckl-Schmid D, Murauer EM, Hainzl S, Hintner H, Bauer JW. The pathogenetic role of IL-1beta in severe epidermolysis bullosa simplex. J Invest Dermatol 2013;133:1901-3.
  26. Wally V, Kitzmueller S, Lagler F, Moder A, Hitzl W, Wolkersdorfer M, Hofbauer P, Felder TK, Dornauer M, Diem A, Eiler N, Bauer JW. Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis 2013;8:69.
  27. Murauer EM, Koller U, Hainzl S, Wally V, Bauer JW. A reporter-based screen to identify potent 3' trans-splicing molecules for endogenous RNA repair. Hum Gene Ther Methods 2013;24:19-27.
  28. Lettner T, Lang R, Klausegger A, Hainzl S, Bauer JW, Wally V. MMP-9 and CXCL8/IL-8 Are Potential Therapeutic Targets in Epidermolysis Bullosa Simplex. PLoS One 2013;8:e70123.
  29. Gruber C, Koller U, Murauer EM, Hainzl S, Huttner C, Kocher T, South AP, Hintner H, Bauer JW. The design and optimization of RNA trans-splicing molecules for skin cancer therapy. Mol Oncol 2013.
  30. Bauer JW, Brandl C, Haubenreisser O, Wimmer B, Weber M, Karl T, Klausegger A, Breitenbach M, Hintner H, von der HT, Tuite MF, Breitenbach-Koller L. Specialized yeast ribosomes: a customized tool for selective mRNA translation. PLoS One 2013;8:e67609.
  31. Wagner M, Hintner H, Bauer JW, Onder K. Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing. Exp Dermatol 2012;21:111-7.
  32. Shaiq PA, Klausegger A, Muzaffar F, Bauer JW, Khan MI, Khanum A, Qamar R, Raja GK. Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. J Dermatol 2012;39:640-1.
  33. Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R. Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family. J Dermatol 2012;39:472-4.
  34. Knaup J, Verwanger T, Gruber C, Ziegler V, Bauer JW, Krammer B. Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression. Exp Dermatol 2012;21:526-30.
  35. Klausegger A, Wiednig M, Urban C, Lackner H, Reiter H, Bauer JW, Aberer W. Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect. Bone Marrow Transplant 2012;47:1259-61.
  36. Ettinger M, Peckl-Schmid D, Gruber C, Laimer M, Thalhamer J, Hintner H, Gratz IK, Bauer JW. Transcutaneous gene gun delivery of hNC16A Induces BPAG2-specific tolerance. J Invest Dermatol 2012;132:1665-71.
  37. Ettinger M, Gratz IK, Gruber C, Hauser-Kronberger C, Johnson TS, Mahnke K, Thalhamer J, Hintner H, Peckl-Schmid D, Bauer JW. Targeting of the hNC16A collagen domain to dendritic cells induces tolerance to human type XVII collagen. Exp Dermatol 2012;21:395-8.
  38. Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle Nerve 2011;44:135-41.
  39. van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat 2011;32:1100-7.
  40. Murauer EM, Gache Y, Gratz IK, Klausegger A, Muss W, Gruber C, Meneguzzi G, Hintner H, Bauer JW. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J Invest Dermatol 2011;131:74-83.
  41. Koller U, Wally V, Mitchell LG, Klausegger A, Murauer EM, Mayr E, Gruber C, Hainzl S, Hintner H, Bauer JW. A novel screening system improves genetic correction by internal exon replacement. Nucleic Acids Res 2011;39:e108.
  42. Knaup J, Gruber C, Krammer B, Ziegler V, Bauer J, Verwanger T. TGFbeta-signaling in squamous cell carcinoma occurring in recessive dystrophic epidermolysis bullosa. Anal Cell Pathol (Amst) 2011;34:339-53.
  43. Klausegger A, Nischler E, Wagner RN, Pletschacher F, Hintner H, Bauer JW. Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease. Arch Dermatol Res 2011;303:371-4.
  44. Gruber C, Gratz IK, Murauer EM, Mayr E, Koller U, Bruckner-Tuderman L, Meneguzzi G, Hintner H, Bauer JW. Spliceosome-mediated RNA trans-splicing facilitates targeted delivery of suicide genes to cancer cells. Mol Cancer Ther 2011;10:233-41.
  45. Wally V, Brunner M, Lettner T, Wagner M, Koller U, Trost A, Murauer EM, Hainzl S, Hintner H, Bauer JW. K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum Mol Genet 2010;19:4715-25.
  46. Kivisaari AK, Kallajoki M, Ala-Aho R, McGrath JA, Bauer JW, Konigova R, Medvecz M, Beckert W, Grenman R, Kahari VM. Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma. Br J Dermatol 2010;163:726-35.
  47. Riedl E, Klausegger A, Bauer JW, 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 2009;26:115-7.
  48. Nischler E, Klausegger A, Huttner C, Pohla-Gubo G, Diem A, Bauer JW, Hintner H. Diagnostic pitfalls in newborns and babies with blisters and erosions. Dermatol Res Pract 2009;2009:320403.
  49. Wally V, Klausegger A, Koller U, Lochmuller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW. 5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol 2008;128:568-74.
  50. Kivisaari AK, Kallajoki M, Mirtti T, McGrath JA, Bauer JW, Weber F, Konigova R, Sawamura D, Sato-Matsumura KC, Shimizu H, Csikos M, Sinemus K, Beckert W, Kahari VM. Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. Br J Dermatol 2008;158:778-85.
  51. Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatol 2006;142:1619-24.
  52. Oender K, Lanschuetzer CM, Laimer M, Klausegger A, Paulweber B, Kofler B, Hintner H, Bauer JW. Introducing a fast and simple PCR-RFLP analysis for the detection of mutant thiopurine S-methyltransferase alleles TPMT*3A and TPMT*3C. J Eur Acad Dermatol Venereol 2006;20:396-400.
  53. Laimer M, Bauer JW, Klausegger A, Koller J, Pohla-Gubo G, Muss W, Sadler E, Emberger M, Lanschuetzer CM, Hametner R, Wally V, Oender K, Hintner H. Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa. British Journal of Dermatology 2006;154:185-7.

Buchkapitel

  1. Bauer JW, Murauer EM, Wally V, Koller U. RNA trans-splicing for genodermatoses. Methods Mol Biol 2013;961:441-55.
  2. Wally V, Koller U, Bauer JW. High-Throughput Screening for Highly Functional RNA-Trans-Splicing Molecules: Correction of Plectin in Epidermolysis Bullosa Simplex. In: Plaseska-Karanfilska D, ed. Human Genetic Diseases2011:223-40.

Übersichtsarbeiten

  1. De Rosa L, Koller U, Bauer JW, De Luca M, Reichelt J. Advances on potential therapeutic options for epidermolysis bullosa. Expert Opinion on Orphan Drugs 2018;6:283-93.
  2. Prodinger CM, Reichelt J, Bauer JW, Laimer M. Current and Future Perspectives of Stem Cell Therapy in Dermatology. Ann Dermatol 2017;29:667-87.
  3. Peking P, Koller U, Murauer EM. Functional therapies for cutaneous wound repair in epidermolysis bullosa. Adv Drug Deliv Rev 2017.
  4. March OP, Reichelt J, Koller U. Gene editing for skin diseases: designer nucleases as tools for gene therapy of skin fragility disorders. Experimental physiology 2017.
  5. Bornert O, Peking P, Bremer J, Koller U, van den Akker PC, Aartsma-Rus A, Pasmooij AM, Murauer EM, Nystrom A. RNA-based therapies for genodermatoses. Exp Dermatol 2017;26:3-10.
  6. Murauer EM, Koller U, Pellegrini G, De LM, Bauer JW. Advances in Gene/Cell Therapy in Epidermolysis Bullosa. Keio J Med 2015;64:21-5.
  7. Wally V, Murauer EM, Bauer JW. Spliceosome-mediated trans-splicing: the therapeutic cut and paste. J Invest Dermatol 2012;132:1959-66.
  8. Laimer M, Lanschutzer CM, Nischler E, Klausegger A, Diem A, Pohla-Gubo G, Bauer JW, Hintner H. [Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa]. Hautarzt 2009;60:378-88.
  9. Laimer M, Lanschützer CM, Nischler E, Klausegger A, Diem A, Pohla-Gubo G, Bauer JW, Hintner H. Epidermolysis bullosa hereditaria. Monatsschr Kinderheilkd 2008;DOI 10.1007/s00112-007-1663-x.
  10. Laimer M, Lanschuetzer CM, B, Pohla-Gubo G, Klausegger A, A D, R R, Bauer JW, Hintner H. Epidermolysis bullosa. Pädiatrie&Pädologie 2006;6:30-8.
  11. Laimer M, Lanschuetzer C, Hintner H, Bauer JW. Current approaches to cutaneous gene therapy. Expert Rev Dermatol 2006;1:833-53.

Kommentare

  1. Gruber C, Hofbauer JP, Bauer JW. Can we be SMaRT-er in our approach to cancer therapy? EBioMedicine 2015;2:621-2.