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Wissenschaftliche Publikationen

Hier finden Sie eine aktuelle Auflistung der wissenschaftlichen Publikationen, die bisher von MitarbeiterInnen des EB-Hauses Austria über Epidermolysis bullosa hereditaria (EB) veröffentlicht wurden.

Publikationslisten per Jahr

 Originalarbeiten

  1. Kocher T, March OP, Bischof J, Liemberger B, Hainzl S, Klausegger A, Hoog A, Strunk D, Bauer JW, Koller U. Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2020, ISSN 0022-202X
  2. Wimmer M, Zauner R, Ablinger M, Piñón-Hofbauer J, Guttmann-Gruber C, Reisenberger M, Lettner T, Niklas N, Proell J, Sajinovic M, De Souza P, Hainzl S, Kocher T, Murauer EM, Bauer JW, Strunk D, Reichelt J, Mellick AS, Wally V. MiRNA-10b marks aggressive squamous cell carcinomas, and confers a cancer stem cell-like phenotype. 2020:2020.02.05.934109.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Koller U. Gentherapeutische Ansätze für die Epidermolysis bullosa. JATROS Dermatologie & Plastische Chirurgie 2020;1:20-1.
  2. Koller U. Ex-vivo-Stammzellgentherapie an der Haut: Reif für klinische Anwendungen? Hautarzt 2020.
  3. March OP, Kocher T, Koller U. Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses. Cells 2020;9.

 Originalarbeiten

  1. Peking P, Breitenbach JS, Ablinger M, Muss WH, Poetschke FJ, Kocher T, Koller U, Hainzl S, Kitzmueller S, Bauer JW, Reichelt J, Lettner T, Wally V. An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex. The British journal of dermatology 2019;160:141-8.
  2. Medek K, Koelblinger P, Koller J, Diem A, Ude-Schoder K, Bauer JW, Laimer M. Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab. J Dtsch Dermatol Ges 2019;17:448-50.
  3. March OP, Lettner T, Klausegger A, Ablinger M, Kocher T, Hainzl S, Peking P, Lackner N, Rajan N, Hofbauer JP, Guttmann-Gruber C, Bygum A, Koller U, Reichelt J. Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes. J Invest Dermatol 2019.
  4. Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa. JCI insight 2019;4.
  5. Kocher T, Wagner RN, Klausegger A, Guttmann-Gruber C, Hainzl S, Bauer JW, Reichelt J, Koller U. Improved double-nicking strategies for COL7A1 editing by homologous recombination. Molecular Therapy - Nucleic Acids 2019.
  6. De Rosa L, Secone Seconetti A, De Santis G, Pellacani G, Hirsch T, Rothoeft T, Teig N, Pellegrini G, Bauer JW, De Luca M. Laminin 332-Dependent YAP Dysregulation Depletes Epidermal Stem Cells in Junctional Epidermolysis Bullosa. Cell reports 2019;27:2036-49.e6.
  7. Bornert O, Kocher T, Gretzmeier C, Liemberger B, Hainzl S, Koller U, Nyström A. Generation of rabbit polyclonal human and murine collagen VII monospecific antibodies: A useful tool for dystrophic epidermolysis bullosa therapy studies. Matrix Biology Plus 2019;4:100017.
  8. Atanasova VS, Russell RJ, Webster TG, Cao Q, Agarwal P, Lim YZ, Krishnan S, Fuentes I, Guttmann-Gruber C, McGrath JA, Salas-Alanis JC, Fertala A, South AP. Thrombospondin-1 Is a Major Activator of TGF-beta Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts. J Invest Dermatol 2019;139:1497-505.e5.
  9. Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CAt, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP. Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2019;25:3384-91.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Wally V, Bauer JW. MicroRNAs: one for all, all for one. The British journal of dermatology 2019.
  2. Prodinger C, Reichelt J, Bauer JW, Laimer M. Epidermolysis bullosa: Advances in research and treatment. Exp Dermatol 2019;28:1176-89.
  3. Guttmann-Gruber C, Tockner B, Scharler C, Hüttner C, Common JE, Tay ASL, Denil SLIJ, Klausegger A, Trost A, Breitenbach J, Schnitzhofer P, Hofbauer JP, Wolkersdorfer M, Diem A, Laimer M, Strunk D, Bauer JW, Reichelt J, Lang R, Pinon Hofbauer J. VD3-Analog Calcipotriol verbessert Wundheilungsprozess. Spectrum Dermatologie 2019;02/2019.
  4. Bauer JW, Schmuth M, Bodemer C. A focus on rare and undiagnosed skin diseases. Exp Dermatol 2019;28:1103-5.

 Originalarbeiten

  1. 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.
  2. 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.
  3. 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.
  4. Sawant M, Schwarz N, Windoffer R, Magin TM, Krieger J, Mucke N, Obara B, Jankowski V, Jankowski J, Wally V, Lettner T, Leube RE. Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability. J Invest Dermatol 2018;138:627-36.
  5. Lincoln V, Cogan J, Hou YP, Hirsch M, Hao M, Alexeev V, De Luca M, De Rosa L, Bauer JW, Woodley DT, Chen M. Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. P Natl Acad Sci USA 2018;115:E6536-E45.
  6. 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.
  7. Hofer S, Stonig M, Wally V, Hartmann A, Fuchs D, Hermann M, Paparella M, Ganzera M, Gostner JM. Contradictory effects of chemical filters in UV/ROS-stressed human keratinocyte and fibroblast cells. Altex 2018.
  8. Guttmann-Gruber C, Tockner B, Scharler C, Hüttner C, Common JE, Tay ASL, Denil SLIJ, Klausegger A, Trost A, Breitenbach J, Schnitzhofer P, Hofbauer P, Wolkersdorfer M, Diem A, Laimer M, Strunk D, Bauer JW, Reichelt J, Lang R, Piñón Hofbauer J. Low-dose calcipotriol can elicit wound closure, anti-microbial, and anti-neoplastic effects in epidermolysis bullosa keratinocytes. Scientific reports 2018;8:13430.
  9. Fuentes I, Guttmann-Gruber C, Tay ASL, Pinon Hofbauer J, Denil S, Reichelt J, Palisson F, Common JEA, South AP. Reduced Microbial Diversity Is a Feature of Recessive Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds. J Invest Dermatol 2018;138:2492-5.
  10. Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Science translational medicine 2018;10.
  11. Ablinger M, Felder TK, Wimmer M, Zauner R, Hofbauer P, Lettner T, Wolkersdorfer M, Lagler FB, Diem A, Bauer JW, Wally V. Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex. Orphanet J Rare Dis 2018;13:193.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Kocher T. OGDV Preistrager stellen sich vor: Der Osterreichische Dermatologenpreis - Unilever Preis 2017 ging an Dr. Thomas Kocher aus Salzburg. J Dtsch Dermatol Ges 2018;16:529-31.
  2. Kocher T. Spezielle CRISPR/Cas9-Technologie zur Therapie von Genodermatosen. Spectrum Dermatologie 2018;1/2018:42-3.
  3. Hainzl S, Peking P. OGDV Preistrager stellen sich vor: Der Wissenschaftspreis der OGDV 2017 ging an Dr. rer. nat. Stefan Hainzl und Dr. rer. nat. Patricia Peking aus Salzburg. J Dtsch Dermatol Ges 2018;16:527-8.
  4. 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.

 

Originalarbeiten

  1. 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;31:e373-e4.
  2. 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.
  3. 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.
  4. 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;551:327-32.
  5. 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.
  6. 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.
  7. 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.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Prodinger CM, Reichelt J, Bauer JW, Laimer M. Current and Future Perspectives of Stem Cell Therapy in Dermatology. Ann Dermatol 2017;29:667-87.
  2. Peking P, Koller U, Murauer EM. Functional therapies for cutaneous wound repair in epidermolysis bullosa. Adv Drug Deliv Rev 2017.
  3. 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.
  4. 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.

Originalarbeiten

  1. 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.
  2. 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.
  3. 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.
  4. Fuentes I, Campos M, Repetto G, Morande P, Yubero MJ, Gonzalez S, Klausegger A, Schnitzhofer P, Pohla-Gubo G, Bauer J, Palisson F. Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. The British journal of dermatology 2016.
  5. 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.
  6. 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;137:778-81.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Prodinger C, Bauer JW, Pohla-Gubo G, Diem A, Hintner H, Laimer M. EB-Haus Austria und EB-Clinet - Beispiel eines Expertisezentrums im Europäischen Referenznetzwerk. Spectrum Dermatologie 2016;1:1-3.
  2. Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R, Goldberg D, Halmos GB, Harries M, Jonkman MF, Lucky A, Martinez AE, Maubec E, Morris S, Murrell DF, Palisson F, Pillay EI, Robson A, Salas-Alanis JC, McGrath JA. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. British Journal of Dermatology 2016;174:56-67.

Originalarbeiten

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

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

 

Originalarbeiten

  1. Fine JD, Bruckner-Tuderman L, Eady RAJ, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. Journal of the American Academy of Dermatology 2014;70:1103-26.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. 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.

Originalarbeiten

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Mayr E, Koller U, Bauer J. Gene Therapy for the COL7A1 Gene. 2013.
  2. Bauer JW, Murauer EM, Wally V, Koller U. RNA trans-splicing for genodermatoses. Methods Mol Biol 2013;961:441-55.

Originalarbeiten

  1. Wertheim-Tysarowska K, Sobczynska-Tomaszewska A, Kowalewski C, Kutkowska-Kazmierczak A, Wozniak K, Niepokoj K, Klausegger A, Sypniewska-Jutkiewicz J, Stepien A, Bal J. Novel and recurrent COL7A1 mutation in a Polish population. Eur J Dermatol 2012;22:23-8.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. Frew J, Lim SW, Klausseger A, Chow CW, Tran K, Su J, Orchard D, Varigos G, Sawamura D, Nishie W, Shimizu H, Murrell DF. Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen. Australas J Dermatol 2011;52:e1-e4.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, 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 2008;58:931-50.
  22. Sadler E, Schafleitner B, Lanschuetzer C, Laimer M, Pohla-Gubo G, Hametner R, Hintner H, Bauer JW. Treatment-resistant classical epidermolysis bullosa acquisita responding to rituximab. Br J Dermatol 2007;157:417-9.
  23. 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.
  24. 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.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Wally V, Murauer EM, Bauer JW. Spliceosome-mediated trans-splicing: the therapeutic cut and paste. J Invest Dermatol 2012;132:1959-66.
  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.
  3. Bauer JW, Laimer M. Therapeutische Optionen bei Epidermolysis bullosa hereditaria. Regenerative Medizin – Offizielles Organ der Deutschen Gesellschaft für Regenerative Medizin eV 2011;1:9-15.
  4. Laimer M, Lanschuetzer CM, Diem A, Bauer JW. Herlitz Junctional Epidermolysis Bullosa. Dermatol Clin 2010;28:55-+.
  5. Laimer M, Bauer JW, Lanschützer CM, Nischler E, Hintner H. Epidermolysis bullosa hereditaria. Akt Dermatol 2010;36:43-59.
  6. 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.
  7. 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.
  8. Bauer JW. Genetische Analytik als Basis für Diagnose und Therapie. In: Fischer M, ed. Ethik transdisziplinär2009:23-8.
  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, Bauer J. Molecular therapy of Epidermolysis bullosa. In: Hintner HF, JD., ed. Life with Epidermolysis bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Berlin, Wien, New York: Springer; 2008:54 - 64.
  11. Klausegger A, Bauer J. Mutation Analysis. In: Hintner HF, JD., ed. Life with Epidermolysis bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Berlin, Wien, New York: Springer; 2008:54 - 64.
  12. Bauer J. Genetic counseling. In: Hintner HF, JD., ed. Life with Epidermolysis bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Berlin, Wien, New York: Springer; 2008:54 - 64.
  13. Laimer M, Lanschuetzer C, Hintner H, Bauer JW. Current approaches to cutaneous gene therapy. Expert Rev Dermatol 2006;1:833-53.
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