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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. Klermund J, Rhiel M, Kocher T, Chmielewski KO, Bischof J, Andrieux G, el Gaz M, Hainzl S, Boerries M, Cornu TI, Koller U, Cathomen T. On- and off-target effects of paired CRISPR-Cas nickase in primary human cells. Molecular Therapy 2024.
  2. Hainzl S, Trattner L, Liemberger B, Bischof J, Kocher T, Ablinger M, Nyström A, Obermayer A, Klausegger A, Gruber C, Wally V, Bauer JW, Piñón Hofbauer J, Koller U. Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa. International Journal of Molecular Sciences 2024.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Koller U, Bauer JW. Emerging DNA & RNA editing strategies for the treatment of epidermolysis bullosa. Journal of Dermatological Treatment 2024.
  2. Piñón Hofbauer J, Guttmann-Gruber C, Wally V, Sharma A, Gratz IK, Koller U. Challenges and progress related to gene editing in rare skin diseases. Adv Drug Deliv Rev 2024;208:115294.
  3. Bischof J, Hierl M, Koller U. Emerging Gene Therapeutics for Epidermolysis Bullosa under Development. International journal of molecular sciences 2024;25:2243.

Originalarbeiten

  1. Illmer J, Zauner R, Piñón Hofbauer J, Wimmer M, Gruner S, Ablinger M, Bischof J, Dorfer S, Hainzl S, Tober V, Bergson S, Sarig O, Samuelov L, Guttmann-Gruber C, Shalom-Feuerstein R, Sprecher E, Koller U, Laimer M, Bauer JW, Wally V. miR-200b-mediated reversion of a spectrum of epithelial to mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas. The British journal of dermatology 2023.

  2. Zauner R, Wimmer M, Atzmueller S, Proell J, Niklas N, Ablinger M, Reisenberger M, Lettner T, Illmer J, Dorfer S, Koller U, Guttmann-Gruber C, Hofbauer JP, Bauer JW, Wally V. Biomarker Discovery in Rare Malignancies: Development of a miRNA Signature for RDEB-cSCC. 2023;15:3286.

  3. Brunner SM, Ramspacher A, Rieser C, Leitner J, Heil H, Ablinger M, Tevini J, Wimmer M, Koller A, Piñón Hofbauer J, Felder TK, Bauer JW, Kofler B, Lang R, Wally V. Topical Diacerein Decreases Skin and Splenic CD11c(+) Dendritic Cells in Psoriasis. International journal of molecular sciences 2023;24.

  4. Welponer T, Weber DD, Trattner L, Tockner B, Aminzadeh-Gohari S, Leb-Reichl V, Kaufmann A, Zauner R, Wimmer M, Wally V, Felder TK, Strunk D, Koller U, Bauer JW, Kofler B, Guttmann-Gruber C, Piñon Hofbauer J. Metformin shows anti-neoplastic properties by inhibition of oxidative phosphorylation and glycolysis in epidermolysis bullosa-associated aggressive cutaneous squamous cell carcinoma. Journal of the European Academy of Dermatology and Venereology : JEADV 2023

  5. Zwicklhuber J, Kocher T, Liemberger B, Hainzl S, Bischof J, Strunk D, Raninger AM, Gratz I, Wally V, Guttmann-Gruber C, Piñón Hofbauer J, Bauer  JW, Koller  U (2023).
    A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa. Int J Mol Sci 24(6):5197.

  6. Liemberger B, Bischof J, Ablinger M, Hainzl S, Murauer EM, Lackner N, Ebner P, Kocher T, Nyström A, Wally V, Mayr E, Guttmann-Gruber C, Piñón Hofbauer J, Bauer JW,  Koller, U. (2023). COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents. Int J Mol Sci 24(5):4341.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Welponer T, Diem A, Nahler G, Laimer M. Purified oral cannabidiol for pain management in severe recessive dystrophic epidermolysis bullosa. Indian journal of dermatology, venereology and leprology 2022;88:551-2.
  2. Popenhagen MP, Genovese P, Blishen M, Rajapakse D, Diem A, King A, Chan J, Pellicer Arasa E, Baird S, Ferreira da Rocha AC, Stitt G, Badger K, Zmazek V, Ambreen F, Mackenzie C, Price H, Roberts T, Moore Z, Patton D, Murphy P, Mayre-Chilton K. Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa. Orphanet J Rare Dis 2023;18:268.
  3. Korte EWH, Welponer T, Kottner J, van der Werf S, van den Akker PC, Horváth B, Kiritsi D, Laimer M, Pasmooij AMG, Wally V, Bolling MC. Heterogeneity of Reported Outcomes in Epidermolysis Bullosa Clinical Research: A Scoping Review as a First Step Towards Outcome Harmonisation. The British journal of dermatology 2023.
  4. Koller U. Gene therapy advances shine the spotlight on epidermolysis bullosa, bringing hope to patients. Molecular Therapy 2023.

Originalarbeiten

  1. Petković I, Bischof J, Kocher T, March OP, Liemberger B, Hainzl S, Strunk D, Raninger AM, Binder AM, Reichelt J, Guttman-Gruber C, Wally V, Piñón Hofbauer J, Bauer JW, Koller U. COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa. Front Med 2022, 9:976604.

  2. Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petković I, Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder H-M, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T, Kocher T, Koller U. Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. Molecular Therapy 2022.

  3. Mayr E, Ablinger M, Lettner T, Murauer, EM, Guttmann-Gruber C, Piñón Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U, Wally V. 5’ RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis bullosa. Int J Mol Sci 2022, 23(3):1732.

  4. Zauner R, Wimmer M, Dorfer S, Ablinger M, Koller U, Piñón Hofbauer J, Guttmann-Gruber C, Bauer JW, Wally V. Transcriptome-Guided Drug Repurposing for Aggressive SCCs. International journal of molecular sciences 2022;23:1007.

  5. Woess K, Sun Y, Morio H, Stierschneider A, Kaufmann A, Hainzl S, Trattner L, Kocher T, Tockner B, Leb-Reichl V, Steiner M, Brachtl G, South AP, Bauer JW, Reichelt J, Furihata T, Wally V, Koller U, Piñón Hofbauer J, Guttmann-Gruber C. Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer. International journal of molecular sciences 2022;23.

  6. Klausegger A, Jeschko N, Grammer M, Cemper-Kiesslich J, Neuhuber F, Diem A, Breitenbach-Koller H, Sander G, Kotzot D, Bauer JW, Laimer M. Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status. Diagnostics (Basel, Switzerland) 2022;12.

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Koller U, Bauer JW. Molecular Research and Treatment of Skin Diseases. 2022;23:5435.
  2. Kocher T, Petkovic I, Bischof J, Koller U. Current developments in gene therapy for epidermolysis bullosa. Expert opinion on biological therapy 2022:1-14.
  3. Ziegler B, Ofner S, Lischent J, Perndorfer J, Diem A, Laimer M, Prodinger C, Treff F. [Anesthesiological aspects in patients with epidermolysis bullosa]. Die Anaesthesiologie 2022;71:467-74.
  4. Thiem A, Has C, Diem A, Klausegger A, Hamm H, Emmert S. [Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study]. Hautarzt 2022;73:384-90.
  5. Medek K, Klausegger A, Ude-Schoder K, Prodinger C, Breitenbach-Koller H, Bauer JW, Laimer M. Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa. Journal of the European Academy of Dermatology and Venereology : JEADV 2022;36:e631-e4.
  6. Chen K, Yong J, Zauner R, Wally V, Whitelock J, Sajinovic M, Kopecki Z, Liang K, Scott KF, Mellick AS. Chondroitin Sulfate Proteoglycan 4 as a Marker for Aggressive Squamous Cell Carcinoma. Cancers 2022;14.

Originalarbeiten

  1. Leb-Reichl VM, Kienzl M, Kaufmann A, Stoecklinger A, Tockner B, Kitzmueller S, Zaborsky N, Steiner M, Brachtl G, Trattner L, Kreideweiss P, Reinsch C, Panzner S, Greil R, Strunk D, Bauer JW, Gratz IK, Guttmann-Gruber C, Piñón Hofbauer J. Leveraging immune memory against measles virus as an antitumor strategy in a preclinical model of aggressive squamous cell carcinoma. Journal for immunotherapy of cancer 2021;9.

  2. Kocher T, Bischof J, Haas SA, March OP, Liemberger B, Hainzl S, Illmer J, Hoog A, Muigg K, Binder H-M, Klausegger A, Strunk D, Bauer JW, Cathomen T, Koller U. A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa. Molecular Therapy - Nucleic Acids 2021.

  3. Kiritsi D, Dieter K, Niebergall-Roth E, Fluhr S, Daniele C, Esterlechner J, Sadeghi S, Ballikaya S, Erdinger L, Schauer F, Gewert S, Laimer M, Bauer JW, Hovnanian A, Zambruno G, El Hachem M, Bourrat E, Papanikolaou M, Petrof G, Kitzmüller S, Ebens CL, Frank MH, Frank NY, Ganss C, Martinez AE, McGrath JA, Tolar J, Kluth MA. Clinical trial of ABCB5-positive mesenchymal stem cells for recessive dystrophic epidermolysis bullosa. JCI insight 2021.

  4. Guttmann-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, Wolkersdorfer M, Tham KC, Lim SS, Common JE, Diem A, Ude-Schoder K, Hitzl W, Lagler F, Reichelt J, Bauer JW, Lang R, Laimer M. Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis 2021;16:473.

  5. Bornert O, Hogervorst M, Nauroy P, Bischof J, Swildens J, Athanasiou I, Tufa SF, Keene DR, Kiritsi D, Hainzl S, Murauer EM, Marinkovich MP, Platenburg G, Hausser I, Wally V, Ritsema T, Koller U, Haisma EM, Nyström A. QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study. J Invest Dermatol 2021;141:883-93.e6.

  6. Ablinger M, Lettner T, Friedl N, Potocki H, Palmetzhofer T, Koller U, Illmer J, Liemberger B, Hainzl S, Klausegger A, Reisenberger M, Lambert J, Van Gele M, Desmet E, Van Maelsaeke E, Wimmer M, Zauner R, Bauer JW, Wally V. Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa. International journal of molecular sciences 2021;22:3326.

     

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Welponer T, Laimer M, bauer J. Epidermolysis bullosa. In: Lebwohl MG, Heymann WR, Coulson I, Murrell D, eds. Treatment of Skin Disease. Elsevier2021:236-8.

  2. Welponer T, Prodinger C, Pinon-Hofbauer J, Hintersteininger A, Breitenbach-Koller H, Bauer JW, Laimer M. Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa. Dermatology and therapy 2021;11:1175-97.

  3. Wagner RN, Piñón Hofbauer J, Wally V, Kofler B, Schmuth M, De Rosa L, De Luca M, Bauer JW. Epigenetic and metabolic regulation of epidermal homeostasis. Exp Dermatol 2021;30:1009-22.

  4. Thiem A, Has C, Diem A, Klausegger A, Hamm H, Emmert S. [Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study]. Hautarzt 2021.

  5. Prodinger C, Klausegger A, Bauer JW, Laimer M. Molecular diagnostics and treatment of epidermolysis bullosa Multidisciplinary synchronized care in pediatric dermatology. MONATSSCHRIFT KINDERHEILKUNDE 2021;169:805-14.

  6. Leb-Reichl V, Guttmann-Gruber C, Piñon Hofbauer J. Linked in: the extracellular matrix network in tumour dissemination. The British journal of dermatology 2021;184:799.

  7. Koller U, Bauer JW. Gene Replacement Therapies for Genodermatoses: A Status Quo. 2021;12.

  8. Kocher T, Koller U. Gene-Editing-Strategien für Genodermatosen. Spectrum Dermatologie 2021;01:16-20.

  9. Kocher T, Koller U. Advances in gene editing strategies for epidermolysis bullosa.  Progress in Molecular Biology and Translational Science: Academic Press; 2021.

  10. Hofbauer JP, Wally V, Guttmann-Gruber C, Gratz IK, Koller U. Therapy Development for Epidermolysis Bullosa [Online First].  Rare Diseases: Intechopen; 2021.

  11. Hainzl S, Guttmann-Gruber C. Innovative Methoden zur Probengewinnung bei Epidermolysis-bullosa-Patienten. Spectrum Dermatologie 2021;01:26-8.

  12. Guttmann-Gruber C, Piñón Hofbauer J. Transforming growth factor-β messaging: #ContextMatters. The British journal of dermatology 2021;184:592-3.

  13. Greenblatt DT, Pillay E, Snelson K, Saad R, Torres Pradilla M, Widhiati S, Diem A, Knight C, Thompson K, Azzopardi N, Werkentoft M, Moore Z, Patton D, Mayre-Chilton KM, Murrell DF, Mellerio JE. Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline. The British journal of dermatology 2021.

  14. Bauer JW. Another twist of the allogenic haematopoietic cell transplantation story. The British journal of dermatology 2021;185:248-9.

  15. Bauer JW. Expanding the use of allogeneic haematopoietic cell transplantation in dermatology. The British journal of dermatology 2021;184:1002-3.

  16. Ablinger M, Wally V, Zauner R, Wimmer M. Erforschung von miRNAs bei aggressiven Plattenepithelkarzinomen. Spectrum Dermatologie 2021;01:21-5.

     

 Originalarbeiten

  1. Pinheiro DF, Szenes-Nagy AB, Maurano MM, Lietzenmayer M, Klicznik MM, Holly R, Kirchmeier D, Kitzmueller S, Achatz-Straussberger G, Rosenblum MD, Thalhamer J, Abbas AK, Gratz IK. Cutting Edge: Tissue Antigen Expression Levels Fine-Tune T Cell Differentiation Decisions In Vivo. Journal of immunology (Baltimore, Md : 1950) 2020.
  2. Fuentes I, Guttmann-Gruber C, Tockner B, Diem A, Klausegger A, Cofré-Araneda G, Figuera O, Hidalgo Y, Morandé P, Palisson F, Rebolledo-Jaramillo B, Yubero MJ, Cho RJ, Rishel HI, Marinkovich MP, Teng JMC, Webster TG, Prisco M, Eraso LH, Piñon Hofbauer J, South AP. Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa. Scientific reports 2020;10:15064.
  3. Prodinger C, Diem A, Ude-Schoder K, Piñón-Hofbauer J, Kitzmueller S, Bauer JW, Laimer M. Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa. Orphanet Journal of Rare Diseases 2020;15:182
  4. 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. A cancer stem cell-like phenotype is associated with miR-10b expression in aggressive squamous cell carcinomas. Cell Commun Signal 2020;18:61
  5. 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

Buchbeiträge, Übersichtsartikel, Editorials, Kommentare

  1. Kocher T, March OP, Bischof J, Liemberger B, Hainzl S, Klausegger A, Hoog A, Strunk D, Bauer JW, Koller U. CRISPR-Cas9-basierte Korrekturstrategie – vorhersagbare Reparaturergebnisse. Spectrum Dermatologie 2020;04/2020:62-3.
  2. Guttmann-Gruber C, Bauer JW, Piñón Hofbauer J. Hereditary bullous diseases: current and innovative models to study the skin blistering disease epidermolysis bullosa. Drug Discovery Today: Disease Models 2020.
  3. Prodinger C, Bauer JW, Laimer M. Translational perspectives to treat Epidermolysis bullosa - where do we stand? Exp Dermatol. 2020 Oct 11. doi: 10.1111/exd.14194.
  4. Wally V, Reisenberger M, Kitzmüller S, Laimer M. Small molecule drug development for rare genodermatoses – evaluation of the current status in epidermolysis bullosa. Orphanet Journal of Rare Diseases 2020;15:292.
  5. Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. The British journal of dermatology 2020.
  6. Prodinger C, Laimer M, Bauer JW, Hintner H. EB (epidermolysis bullosa)-House Austria: Pioneering work for the care of patients with rare diseases. 2020;n/a.
  7. Murrell DF, Lucky AW, Salas-Alanis JC, Woodley DT, Palisson F, Natsuga K, Nikolic M, Ramirez-Quizon M, Paller AS, Lara-Corrales I, Barzegar MA, Sprecher E, Has C, Laimer M, Bruckner AL, Bilgic A, Nanda A, Purvis D, Hovnanian A, Murat-Sušić S, Bauer J, Kern JS, Bodemer C, Martin LK, Mellerio J, Kowaleski C, Robertson SJ, Bruckner-Tuderman L, Pope E, Marinkovich MP, Tang JY, Su J, Uitto J, Eichenfield LF, Teng J, Aan Koh MJ, Lee SE, Khuu P, Rishel HI, Sommerlund M, Wiss K, Hsu C-K, Chiu TW, Martinez AE. Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts. Journal of the American Academy of Dermatology 2020;83:1222-4.
  8. Koller U. Gentherapeutische Ansätze für die Epidermolysis bullosa. JATROS Dermatologie & Plastische Chirurgie 2020;1:20-1.
  9. Koller U. Ex-vivo-Stammzellgentherapie an der Haut: Reif für klinische Anwendungen? Hautarzt 2020.
  10. 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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