A neutral comparison of statistical methods for analyzing longitudinally measured ordinal outcomes in rare diseases.
Geroldinger, M; Verbeeck, J; Thiel, KE; Molenberghs, G; Bathke, AC; Laimer, M; Zimmermann, G;
Biom J. 2023; e2200236
Originalarbeiten (Zeitschrift)

Heterogeneity of Reported Outcomes in Epidermolysis Bullosa Clinical Research: A Scoping Review as a First Step Towards Outcome Harmonisation.
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;
Br J Dermatol. 2023;
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COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents.
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; Hofbauer, JP; Bauer, JW; Koller, U;
Int J Mol Sci. 2023; 24(5):
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Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond
Wagner, RN; Wiessner, M; Friedrich, A; Zandanell, J; Breitenbach-Koller, H; Bauer, JW
INT J MOL SCI. 2023; 24(7): 6101
Übersichtsarbeiten

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa.
Zwicklhuber, J; Kocher, T; Liemberger, B; Hainzl, S; Bischof, J; Strunk, D; Raninger, AM; Gratz, I; Wally, V; Guttmann-Gruber, C; Hofbauer, JP; Bauer, JW; Koller, U;
Int J Mol Sci. 2023; 24(6):
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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.
Klausegger, A; Jeschko, N; Grammer, M; Cemper-Kiesslich, J; Neuhuber, F; Diem, A; Breitenbach-Koller, H; Sander, G; Kotzot, D; Bauer, JW; Laimer, M;
Diagnostics (Basel). 2022; 12(10):
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Current developments in gene therapy for epidermolysis bullosa.
Kocher, T; Petkovic, I; Bischof, J; Koller, U;
Expert Opin Biol Ther. 2022; 22(9): 1137-1150.
Originalarbeiten (Zeitschrift)

5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa
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;
Int J Mol Sci. 2022; 23(3):
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COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa.
Petković, I; Bischof, J; Kocher, T; March, OP; Liemberger, B; Hainzl, S; Strunk, D; Raninger, AM; Binder, HM; Reichelt, J; Guttmann-Gruber, C; Wally, V; Piñón Hofbauer, J; Bauer, JW; Koller, U;
Front Med (Lausanne). 2022; 9: 976604
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[Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study].
Thiem, A; Has, C; Diem, A; Klausegger, A; Hamm, H; Emmert, S;
Hautarzt. 2022; 73(5): 384-390.
Fallberichte

The translatome of junctional epidermolysis bullosa
Wiessner, M; Wagner, RN; Zellinger, B; Friedrich, A; Brandstetter, C; Breitenbach-Koller, H; Bauer, JW
EXP DERMATOL. 2022; 31(2): E35-E35.
Abstracts (Zeitschrift)

Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer
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;
Int J Mol Sci. 2022; 23(1):
Originalarbeiten (Zeitschrift)

Transcriptome-Guided Drug Repurposing for Aggressive SCCs.
Zauner, R; Wimmer, M; Dorfer, S; Ablinger, M; Koller, U; Piñón Hofbauer, J; Guttmann-Gruber, C; Bauer, JW; Wally, V;
Int J Mol Sci. 2022; 23(2):
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[Anesthesiological aspects in patients with epidermolysis bullosa].
Ziegler, B; Ofner, S; Lischent, J; Perndorfer, J; Diem, A; Laimer, M; Prodinger, C; Treff, F;
Anaesthesiologie. 2022; 71(6):467-474
Übersichtsarbeiten

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.
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;
Int J Mol Sci. 2021; 22(7):
Originalarbeiten (Zeitschrift)

QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study.
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;
J Invest Dermatol. 2021; 141(4):883-893.e6
Originalarbeiten (Zeitschrift)

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.
Guttmann-Gruber, C; Hofbauer, JP; 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
ORPHANET J RARE DIS. 2021; 16(1): 473
Originalarbeiten (Zeitschrift)

Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
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;
JCI Insight. 2021; 6(22):
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A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa.
Kocher, T; Bischof, J; Haas, SA; March, OP; Liemberger, B; Hainzl, S; Illmer, J; Hoog, A; Muigg, K; Binder, HM; Klausegger, A; Strunk, D; Bauer, JW; Cathomen, T; Koller, U;
Mol Ther Nucleic Acids. 2021; 25:237-250
Originalarbeiten (Zeitschrift)

Advances in gene editing strategies for epidermolysis bullosa.
Kocher, T; Koller, U;
Prog Mol Biol Transl Sci. 2021; 182: 8-109.
Originalarbeiten (Zeitschrift)

Gene Replacement Therapies for Genodermatoses: A Status Quo
Koller, U; Bauer, JW;
Front Genet. 2021; 12: 658295
Übersichtsarbeiten

The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review.
Prodinger, C; Chottianchaiwat, S; Mellerio, JE; McGrath, JA; Ozoemena, L; Liu, L; Moore, W; Laimer, M; Petrof, G; Martinez, AE;
Pediatr Dermatol. 2021; 38(5):1094-1101
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Epigenetic and metabolic regulation of epidermal homeostasis.
Wagner, RN; Piñón Hofbauer, J; Wally, V; Kofler, B; Schmuth, M; De Rosa, L; De Luca, M; Bauer, JW;
Exp Dermatol. 2021; 30(8): 1009-1022.
Übersichtsarbeiten

Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.
Welponer, T; Prodinger, C; Pinon-Hofbauer, J; Hintersteininger, A; Breitenbach-Koller, H; Bauer, JW; Laimer, M;
Dermatol Ther (Heidelb). 2021; 11(4): 1175-1197.
Übersichtsarbeiten

Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa.
Fuentes, I; Guttmann-Gruber, C; Tockner, B; Diem, A; Klausegger, A; Cofre-Araneda, G; Figuera, O; Hidalgo, Y; Morande, P; Palisson, F; Rebolledo-Jaramillo, B; Yubero, MJ; Cho, RJ; Rishel, HI; Marinkovich, MP; Teng, JMC; Webster, TG; Prisco, M; Eraso, LH; Hofbauer, JP; South, AP
SCI REP-UK. 2020; 10(1): 15064
Originalarbeiten (Zeitschrift)

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.
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
Br J Dermatol. 2020; 183(4):614-627
Übersichtsarbeiten

Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa.
Kocher, T; March, OP; Bischof, J; Liemberger, B; Hainzl, S; Klausegger, A; Hoog, A; Strunk, D; Bauer, JW; Koller, U;
J Invest Dermatol. 2020; 140(10):1985-1993.e5
Originalarbeiten (Zeitschrift)

[Ex vivo stem cell gene therapy of the skin : Ready for clinical use?]
Koller, U;
Hautarzt. 2020; 71(2):85-90
Übersichtsarbeiten

Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March, OP; Kocher, T; Koller, U;
Cells. 2020; 9(1):
Übersichtsarbeiten

Translational perspectives to treat Epidermolysis bullosa-Where do we stand?
Prodinger, C; Bauer, JW; Laimer, M;
Exp Dermatol. 2020; 29(11):1112-1122
Originalarbeiten (Zeitschrift)

Profiling trial burden and patients attitudes to improve clinical research in epidermolysis bullosa.
Prodinger, C; Diem, A; Ude-Schoder, K; Piñón-Hofbauer, J; Kitzmueller, S; Bauer, JW; Laimer, M;
Orphanet J Rare Dis. 2020; 15(1): 182
Originalarbeiten (Zeitschrift)

EB (epidermolysis bullosa)-House Austria: Pioneering work for the care of patients with rare diseases.
Prodinger, C; Laimer, M; Bauer, JW; Hintner, H;
J Dtsch Dermatol Ges. 2020; 18(11):1229-1235
Übersichtsarbeiten

Small molecule drug development for rare genodermatoses - evaluation of the current status in epidermolysis bullosa.
Wally, V; Reisenberger, M; Kitzmüller, S; Laimer, M;
Orphanet J Rare Dis. 2020; 15(1): 292
Übersichtsarbeiten

A cancer stem cell-like phenotype is associated with miR-10b expression in aggressive squamous cell carcinomas.
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;
Cell Commun Signal. 2020; 18(1): 61
Originalarbeiten (Zeitschrift)

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Atanasova, VS; Pourreyron, C; Farshchian, M; Lawler, ME; Brown, CA; Watt, S; Wright, S; Warkala, M; Guttmann-Gruber, C; Pinon-Hofbauer, J; Fuentes, I; Prisco, M; Rashidghamat, E; Has, C; Salas-Alanis, JC; Palisson, F; Hovnanian, A; McGrath, JA; Mellerio, J; Bauer, JW; South, AP;
Clin Cancer Res. 2019; 25(11):3384-3391
Originalarbeiten (Zeitschrift)

Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.
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;
J Invest Dermatol. 2019; 139(7):1497-1505.e5
Originalarbeiten (Zeitschrift)

Generation of rabbit polyclonal human and murine collagen VII monospecific antibodies: A useful tool for dystrophic epidermolysis bullosa therapy studies.
Bornert, O; Kocher, T; Gretzmeier, C; Liemberger, B; Hainzl, S; Koller, U; Nyström, A;
Matrix Biol Plus. 2019; 4:100017
Originalarbeiten (Zeitschrift)

Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination.
Kocher, T; Wagner, RN; Klausegger, A; Guttmann-Gruber, C; Hainzl, S; Bauer, JW; Reichelt, J; Koller, U;
Mol Ther Nucleic Acids. 2019; 18:496-507
Originalarbeiten (Zeitschrift)

An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex.
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;
Br J Dermatol. 2019; 180(1):141-148
Originalarbeiten (Zeitschrift)

Epidermolysis bullosa: Advances in research and treatment.
Prodinger, C; Reichelt, J; Bauer, JW; Laimer, M;
Exp Dermatol. 2019; 28(10):1176-1189
Übersichtsarbeiten

Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex.
Ablinger, M; Felder, TK; Wimmer, M; Zauner, R; Hofbauer, P; Lettner, T; Wolkersdorfer, M; Lagler, FB; Diem, A; Bauer, JW; Wally, V;
Orphanet J Rare Dis. 2018; 13(1): 193
Letter

Advances on potential therapeutic options for epidermolysis bullosa
De Rosa, L; Koller, U; Bauer, JW; De Luca, M; Reichelt, J
EXPERT OPIN ORPHAN D. 2018; 6(4): 283-293.
Übersichtsarbeiten

Low-dose calcipotriol can elicit wound closure, anti-microbial, and anti-neoplastic effects in epidermolysis bullosa keratinocytes.
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;
Sci Rep. 2018; 8(1): 13430
Originalarbeiten (Zeitschrift)

RNA Trans-Splicing Modulation via Antisense Molecule Interference.
Liemberger, B; Piñón Hofbauer, J; Wally, V; Arzt, C; Hainzl, S; Kocher, T; Murauer, EM; Bauer, JW; Reichelt, J; Koller, U;
Int J Mol Sci. 2018; 19(3):
Originalarbeiten (Zeitschrift)

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa
Lincoln, V; Cogan, J; Hou, YP; Hirsch, M; Hao, M; Alexeev, V; De Luca, M; De Rosa, L; Bauer, JW; Woodley, DT; Chen, M
P NATL ACAD SCI USA. 2018; 115(28): E6536-E6545.
Originalarbeiten (Zeitschrift)

Gene editing for skin diseases: designer nucleases as tools for gene therapy of skin fragility disorders.
March, OP; Reichelt, J; Koller, U;
Exp Physiol. 2018; 103(4):449-455
Originalarbeiten (Zeitschrift)

Functional therapies for cutaneous wound repair in epidermolysis bullosa.
Peking, P; Koller, U; Murauer, EM;
Adv Drug Deliv Rev. 2018; 129:330-343
Originalarbeiten (Zeitschrift)

Threonine 150 Phosphorylation of Keratin 5 Is Linked to Epidermolysis Bullosa Simplex and Regulates Filament Assembly and Cell Viability.
Sawant, M; Schwarz, N; Windoffer, R; Magin, TM; Krieger, J; Mücke, N; Obara, B; Jankowski, V; Jankowski, J; Wally, V; Lettner, T; Leube, RE;
J Invest Dermatol. 2018; 138(3):627-636
Originalarbeiten (Zeitschrift)

Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.
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; Kitzmüller, S; Diem, A; Bauer, JW;
J Am Acad Dermatol. 2018; 78(5): 892-901.e7.
Originalarbeiten (Zeitschrift)

Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients.
Aushev, M; Koller, U; Mussolino, C; Cathomen, T; Reichelt, J;
Mol Ther Methods Clin Dev. 2017; 6: -123.
Originalarbeiten (Zeitschrift)

Manufacturing of Human Extracellular Vesicle-Based Therapeutics for Clinical Use.
Gimona, M; Pachler, K; Laner-Plamberger, S; Schallmoser, K; Rohde, E;
Int J Mol Sci. 2017; 18(6):
Originalarbeiten (Zeitschrift)

COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
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;
Mol Ther. 2017; 25(11):2573-2584
Originalarbeiten (Zeitschrift)

Regeneration of the entire human epidermis using transgenic stem cells.
Hirsch, T; Rothoeft, T; Teig, N; Bauer, JW; Pellegrini, G; De Rosa, L; Scaglione, D; Reichelt, J; Klausegger, A; Kneisz, D; Romano, O; Secone Seconetti, A; Contin, R; Enzo, E; Jurman, I; Carulli, S; Jacobsen, F; Luecke, T; Lehnhardt, M; Fischer, M; Kueckelhaus, M; Quaglino, D; Morgante, M; Bicciato, S; Bondanza, S; De Luca, M;
NATURE. 2017; 551(7680): 327-332.
Originalarbeiten (Zeitschrift)

Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease.
Laimer, M; Pohla-Gubo, G; Diem, A; Prodinger, C; Bauer, JW; Hintner, H;
Wien Klin Wochenschr. 2017; 129(1-2): 1-7.
Originalarbeiten (Zeitschrift)

An RNA-targeted therapy for dystrophic epidermolysis bullosa.
Peking, P; Koller, U; Duarte, B; Murillas, R; Wolf, S; Maetzig, T; Rothe, M; Kocher, T; García, M; Brachtl, G; Schambach, A; Larcher, F; Reichelt, J; Bauer, JW; Murauer, EM;
Nucleic Acids Res. 2017; 45(17): 1025-10269.
Originalarbeiten (Zeitschrift)

Current and Future Perspectives of Stem Cell Therapy in Dermatology.
Prodinger, CM; Reichelt, J; Bauer, JW; Laimer, M;
Ann Dermatol. 2017; 29(6):-687
Übersichtsarbeiten

Designing Efficient Double RNA trans-Splicing Molecules for Targeted RNA Repair.
Huttner, C; Murauer, EM; Hainzl, S; Kocher, T; Neumayer, A; Reichelt, J; Bauer, JW; Koller, U
Int J Mol Sci. 2016; 17(10):
Originalarbeiten (Zeitschrift)

A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair.
Peking, P; Koller, U; Hainzl, S; Kitzmueller, S; Kocher, T; Mayr, E; Nyström, A; Lener, T; Reichelt, J; Bauer, JW; Murauer, EM;
Mol Ther Nucleic Acids. 2016; 5: e287
Originalarbeiten (Zeitschrift)

[Mucosal manifestations of epidermolysis bullosa : Clinical presentation and management].
Prodinger, C; Diem, A; Bauer, JW; Laimer, M;
Hautarzt. 2016; 67(10): 806-815.
Übersichtsarbeiten

Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations.
Tockner, B; Kocher, T; Hainzl, S; Reichelt, J; Bauer, JW; Koller, U; Murauer, EM;
Gene Ther. 2016; 23(11):775-784
Originalarbeiten (Zeitschrift)

Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa.
Boltzmann, L; Gruber, C; Klausegger, A; Trost, A; Bogner, B; Reitsamer, H; Bauer, JW;
J Dtsch Dermatol Ges. 2015; 13(12): 1257-1266.
Originalarbeiten (Zeitschrift)

Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
Breitenbach, JS; Rinnerthaler, M; Trost, A; Weber, M; Klausegger, A; Gruber, C; Bruckner, D; Reitsamer, HA; Bauer, JW; Breitenbach, M;
Aging (Albany NY). 2015; 7(6):389-411
Originalarbeiten (Zeitschrift)

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways.
Herzog, J; Rid, R; Wagner, M; Hundsberger, H; Eger, A; Bauer, J; Önder, K;
BMC Res Notes. 2015; 8(1): 785
Originalarbeiten (Zeitschrift)

Trans-splicing improvement by the combined application of antisense strategies.
Koller, U; Hainzl, S; Kocher, T; Hüttner, C; Klausegger, A; Gruber, C; Mayr, E; Wally, V; Bauer, JW; Murauer, EM;
Int J Mol Sci. 2015; 16(1):117-191
Originalarbeiten (Zeitschrift)

[Molecular diagnostics in genodermatoses].
Laimer, M; Bauer, JW; Lang, R;
Hautarzt. 2015; 66(3): 203-211.
Originalarbeiten (Zeitschrift)

Hereditary epidermolysis bullosa.
Laimer, M; Prodinger, C; Bauer, JW;
J Dtsch Dermatol Ges. 2015; 13(11): 1125-1133.
Originalarbeiten (Zeitschrift)

Urine is a novel source of autologous mesenchymal stem cells for patients with epidermolysis bullosa.
Schosserer, M; Reynoso, R; Wally, V; Jug, B; Kantner, V; Weilner, S; Buric, I; Grillari, J; Bauer, JW; Grillari-Voglauer, R;
BMC Res Notes. 2015; 8(1): 767
Originalarbeiten (Zeitschrift)

Vascular precursor epilepsy - Old wine in new skins?
Trinka, E; Kramer, G; Werhahn, K
EPILEPSY BEHAV. 2015; 48: 103-104.
Letter

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
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
J AM ACAD DERMATOL. 2014; 70(6): 1103-1126.
Übersichtsarbeiten

The design and optimization of RNA trans-splicing molecules for skin cancer therapy.
Gruber, C; Koller, U; Murauer, EM; Hainzl, S; Huttner, C; Kocher, T; South, AP; Hintner, H; Bauer, JW
Mol Oncol. 2013; 7(6):105-168
Originalarbeiten (Zeitschrift)

In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients.
Larisch, P; Verwanger, T; Onder, K; Krammer, B;
Biomed Res Int. 2013; 2013:521281
Originalarbeiten (Zeitschrift)

A reporter-based screen to identify potent 3" trans-splicing molecules for endogenous RNA repair.
Murauer, EM; Koller, U; Hainzl, S; Wally, V; Bauer, JW;
Hum Gene Ther Methods. 2013; 24(1):19-27
Originalarbeiten (Zeitschrift)

Aberrant expression and secretion of heat shock protein 90 in patients with bullous pemphigoid.
Tukaj, S; Kleszczyński, K; Vafia, K; Groth, S; Meyersburg, D; Trzonkowski, P; Ludwig, RJ; Zillikens, D; Schmidt, E; Fischer, TW; Kasperkiewicz, M;
PLoS One. 2013; 8(7): e70496
Originalarbeiten (Zeitschrift)

Imbalance of intermediate filament component keratin 14 contributes to increased stress signalling in epidermolysis bullosa simplex.
Wagner, M; Trost, A; Hintner, H; Bauer, JW; Onder, K;
Exp Dermatol. 2013; 22(4): 292-294.
Letter

Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study.
Wally, V; Kitzmueller, S; Lagler, F; Moder, A; Hitzl, W; Wolkersdorfer, M; Hofbauer, P; Felder, TK; Dornauer, M; Diem, A; Eiler, N; Bauer, JW;
Orphanet J Rare Dis. 2013; 8:69
Originalarbeiten (Zeitschrift)

Targeting of the hNC16A collagen domain to dendritic cells induces tolerance to human type XVII collagen.
Ettinger, M; Gratz, IK; Gruber, C; Hauser-Kronberger, C; Johnson, TS; Mahnke, K; Thalhamer, J; Hintner, H; Peckl-Schmid, D; Bauer, JW;
Exp Dermatol. 2012; 21(5):395-398
Letter

Transcutaneous gene gun delivery of hNC16A Induces BPAG2-specific tolerance.
Ettinger, M; Peckl-Schmid, D; Gruber, C; Laimer, M; Thalhamer, J; Hintner, H; Gratz, IK; Bauer, JW;
J INVEST DERMATOL. 2012; 132(6): 1665-1671.
Originalarbeiten (Zeitschrift)

Dermoscopy for the pediatric dermatologist, part ii: dermoscopy of genetic syndromes with cutaneous manifestations and pediatric vascular lesions.
Haliasos, EC; Kerner, M; Jaimes, N; Zalaudek, I; Malvehy, J; Lanschuetzer, CM; Hinter, H; Hofmann-Wellenhof, R; Braun, RP; Marghoob, AA;
Pediatr Dermatol. 2012; 30(2):172-181
Übersichtsarbeiten

Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression
Knaup, J; Verwanger, T; Gruber, C; Ziegler, V; Bauer, JW; Krammer, B
EXP DERMATOL. 2012; 21(7): 526-530.
Originalarbeiten (Zeitschrift)

Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.
Wagner, M; Hintner, H; Bauer, JW; Onder, K;
Exp Dermatol. 2012; 21(2):111-117
Originalarbeiten (Zeitschrift)

Novel and recurrent COL7A1 mutation in a Polish population
Wertheim-Tysarowska, K; Sobczynska-Tomaszewska, A; Kowalewski, C; Kutkowska-Kazmierczak, A; Wozniak, K; Niepokoj, K; Klausegger, A; Sypniewska-Jutkiewicz, J; Stepien, A; Bal, J
EUR J DERMATOL. 2012; 22(1): 23-28.
Originalarbeiten (Zeitschrift)

Spliceosome-mediated RNA trans-splicing facilitates targeted delivery of suicide genes to cancer cells.
Gruber, C; Gratz, IK; Murauer, EM; Mayr, E; Koller, U; Bruckner-Tuderman, L; Meneguzzi, G; Hintner, H; Bauer, JW;
Mol Cancer Ther. 2011; 10(2): 233-241.
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TGFβ-signaling in squamous cell carcinoma occurring in recessive dystrophic epidermolysis bullosa.
Knaup, J; Gruber, C; Krammer, B; Ziegler, V; Bauer, J; Verwanger, T;
ANAL CELL PATHOL. 2011; 34(6): 339-353.
Originalarbeiten (Zeitschrift)

A novel screening system improves genetic correction by internal exon replacement.
Koller, U; Wally, V; Mitchell, LG; Klausegger, A; Murauer, EM; Mayr, E; Gruber, C; Hainzl, S; Hintner, H; Bauer, JW;
Nucleic Acids Res. 2011; 39(16): e108
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Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Yiu, EM; Klausegger, A; Waddell, LB; Grasern, N; Lloyd, L; Tran, K; North, KN; Bauer, JW; McKelvie, P; Chow, CW; Ryan, MM; Murrell, DF;
MUSCLE NERVE. 2011; 44(1): 135-141.
Fallberichte

Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.
Kivisaari, AK; Kallajoki, M; Ala-aho, R; McGrath, JA; Bauer, JW; Königová, R; Medvecz, M; Beckert, W; Grénman, R; Kähäri, VM;
BRIT J DERMATOL. 2010; 163(4): 726-735.
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Herlitz Junctional Epidermolysis Bullosa
Laimer, M; Lanschuetzer, CM; Diem, A; Bauer, JW
DERMATOL CLIN. 2010; 28(1): 55-+.
Originalarbeiten (Zeitschrift)

Epidermolysis Bullosa Nevi
Lanschuetzer, CM; Laimer, M; Nischler, E; Hintner, H
DERMATOL CLIN. 2010; 28(1): 179-183.
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Immunofluorescence mapping for the diagnosis of epidermolysis bullosa.
Pohla-Gubo, G; Cepeda-Valdes, R; Hintner, H;
Dermatol Clin. 2010; 28(2):2-10
Übersichtsarbeiten

Epidermolysis Bullosa Care in Austria and the Epidermolysis Bullosa House Austria
Pohla-Gubo, G; Hintner, H
DERMATOL CLIN. 2010; 28(2): 415-+.
Originalarbeiten (Zeitschrift)

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.
Wally, V; Brunner, M; Lettner, T; Wagner, M; Koller, U; Trost, A; Murauer, EM; Hainzl, S; Hintner, H; Bauer, JW;
Hum Mol Genet. 2010; 19(23):471-425
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Non-Herlitz Junctional Epidermolysis Bullosa
Yancey, KB; Hintner, H
DERMATOL CLIN. 2010; 28(1): 67-+.
Originalarbeiten (Zeitschrift)

[Orogenital and conjunctival involvement in hereditary and autoimmune blistering diseases].
Laimer, M; Lanschützer, CM; Emberger, M; Nischler, E; Stoiber, J; Hintner, H;
HAUTARZT. 2009; 60(11): 881-890.
Übersichtsarbeiten

[Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa].
Laimer, M; Lanschützer, CM; Nischler, E; Klausegger, A; Diem, A; Pohla-Gubo, G; Bauer, JW; Hintner, H;
HAUTARZT. 2009; 60(5): 378-388.
Übersichtsarbeiten

Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.
Kivisaari, AK; Kallajoki, M; Mirtti, T; McGrath, JA; Bauer, JW; Weber, F; Königová, R; Sawamura, D; Sato-Matsumura, KC; Shimizu, H; Csikós, M; Sinemus, K; Beckert, W; Kähäri, VM;
BRIT J DERMATOL. 2008; 158(4): 77-85.
Originalarbeiten (Zeitschrift)

Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern.
Lanschuetzer, CM; Emberger, M; Laimer, M; Diem, A; Bauer, JW; Soyer, HP; Hintner, H;
BRIT J DERMATOL. 2005; 153(1): 97-102.
Originalarbeiten (Zeitschrift)

Gene therapy of epidermolysis bullosa.
Bauer, JW; Laimer, M;
EXPERT OPIN BIOL TH. 2004; 4(9): 1435-1443.
Übersichtsarbeiten

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay.
Buchroithner, B; Klausegger, A; Ebschner, U; Anton-Lamprecht, I; Pohla-Gubo, G; Lanschuetzer, CM; Laimer, M; Hintner, H; Bauer, JW;
LAB INVEST. 2004; 84(10): 1279-1288.
Originalarbeiten (Zeitschrift)

Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases.
Dallinger, G; Puttaraju, M; Mitchell, LG; Yancey, KB; Yee, C; Klausegger, A; Hintner, H; Bauer, JW;
EXP DERMATOL. 2003; 12(1): 37-46.
Originalarbeiten (Zeitschrift)

Pathogenic mechanisms in epidermolysis bullosa naevi.
Lanschuetzer, CM; Emberger, M; Hametner, R; Klausegger, A; Pohla-Gubo, G; Hintner, H; Bauer, JW;
ACTA DERM-VENEREOL. 2003; 83(5): 332-337.
Fallberichte

Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa.
Weber, F; Bauer, JW; Sepp, N; Högler, W; Salmhofer, W; Hintner, H; Fritsch, P;
Acta Derm Venereol. 2001; 81(3): 189-192.
Fallberichte

[Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene].
Bauer, JW; Ortiz, S; Hengstschläger, M; Pulkkinen, L; Uitto, J; Hintner, H; Rappersberger, K;
Hautarzt. 1999; 50(2):121-126
Originalarbeiten (Zeitschrift)

Ocular involvement in IgA-epidermolysis bullosa acquisita.
Bauer, JW; Schaeppi, H; Metze, D; Muss, W; Pohla-Gubo, G; Hametner, R; Ruckhofer, J; Grabner, G; Hintner, H;
Br J Dermatol. 1999; 141(5): 887-892.
Fallberichte