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Publications

This sections list EB relevant scientific publications per year of publishment. The majority of publications provided are related to research projects listed on this website under projects. All publications have a direct link to the publication itself and to the related project if applicable.

Bear in mind that not all publications are freely available and you might have to buy access rights to read them in full.

 

Publications

  1. Primerano A, De Domenico E, Cianfarani F, De Luca N, Floriddia G, Teson M, Cristofoletti C, Cardarelli S, Scaglione GL, Baldini E, Cangelosi D, Uva P, Reinoso Sànchez JF, Roubaty C, Dengjel J, Nyström A, Mastroeni S, Ulisse S, Castiglia D, Odorisio T. Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa. Br J Dermatol. (2024) May 31:ljae225. Publication Project
  2. Condorelli AG, Nobili R, Muglia A, Scarpelli G, Marzuolo E, De Stefanis C, Rota R, Diociaiuti A, Alaggio R, Castiglia D, Odorisio T, El Hachem M, Zambruno G. Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. (2024); Jan 16: S0022- 202X(24)00001-0. Publication Project
  3. Pavlova M, Balaiya V, Flores JC, Ferreyros M, Bush K, Hopkin A, Kogut I, Roop DR, Bilousova G. The Development of an Advanced Model for Multilayer Human Skin Reconstruction In Vivo. BioProtoc, (2024) Jan 20;14(2):e4919. Publication Project
  4. Korte EWH, Pasmooij AMG, Bolling MC, Hickey S, Hussain S, Kiritsi D, Kottner J, Prinsen CAC, Sauvestre A, Sendin G, Spuls PI, Tarrats N, Wally V, Welponer T, Laimer M, van den Akker PC ; COSEB Consortium. Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa. Br J Dermatol. (2024) Jun 12:ljae200. Publication
  5. Korte EWH, Baardman R, Pool G, Duipmans JC, van den Akker PC, Bolling MC. Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients. Br J Dermatol. (2024) Jun 11:ljae242 Publication
  6. Gewert S, Davidovic M, Has C, Kiritsi D.J Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa. Dtsch Dermatol Ges. (2024) Apr 28. Publication
  7. Salamon G, Field-Werners U, Strobl S, Hübl V, Diem A. Facing the complex challenges of people with epidermolysis bullosa in Austria: a mixed methods study on burdens and helpful practices. Orphanet J Rare Dis. (2024) May 21;19(1):211. Publication Project Project
  8. Paller AS, Guide SV, Ayala D, Gonzalez ME, Lucky AW, Bagci IS, Marinkovich MP. Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa. J Dermatolog Treat. (2024) Dec;35(1):2350232. Publication ClinicalTrial NCT03536143 ClinicalTrial NCT04491604 ClinicalTrial NCT04917874
  9. Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, 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. Mol Ther. (2024) Mar 7:S1525-0016(24)00147-3. Publication Project
  10. Ropret S, Khurana P, Fabčič T, Cvetkovska J, Trobec A, Jokhadar ŠZ, Ilic D, McGrath JA, Guttmann-Gruber C, Liovic M. Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB). Stem Cell Res. (2024) Mar;75:103306. Publication
  11. Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C. Orofacial Anomalies in Kindler Epidermolysis Bullosa. JAMA Dermatol. (2024) Mar 20:e240065. Publication
  12. Torres Pradilla M, Álvarez E, Novoa M, Lozano I, Trujillo M. Oleogel-S10 in Dystrophic Epidermolysis Bullosa: A Case Series Evaluating the Impact on Wound Burden Over Two Years. Adv Ther. (2024) Feb;41(2):867-877. Publication
  13. Tovar Vetencourt A, Sayed-Ahmed I, Gomez J, Chen H, Agostini B, Carroll K, Parry T, Krishnan S, Sabater AL. Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa. N Engl J Med. (2024) Feb 8;390(6):530-535. Publication
  14. Bischof J, Hierl M, Koller U. Emerging Gene Therapeutics for Epidermolysis Bullosa under Development. Int J Mol Sci. (2024) Feb 13;25(4):2243. Publication
  15. Woodley DT, Hao M, Kwong A, Levian B, Cogan J, Hou Y, Mosallaei D, Kleinman E, Zheng K, Chung C, Kim G, Peng D, Chen M. Intravenous gentamicin therapy induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients: An open label clinical trial. Br J Dermatol. (2024) Feb 16:ljae063. Publication ClinicalTrial NCT03392909
  16. Doolan BJ, McGrath JA, Mellerio JE. Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper. Br J Dermatol. (2024) Feb 16;190(3):340-342. Publication ClinicalTrial NCT04917874
  17. Salamon G, Strobl S, Field-Werners U, Welponer T, Murrell DF, Diem A. Translation, cultural adaptation and validation of the German Quality of life in Epidermolysis Bullosa (QOLEB) questionnaire. J Health Psychol. (2024) Feb 18:13591053231221369. Publication Project
  18. Reimer-Taschenbrecker A, Hess M, Davidovic M, Hwang A, Hübner S, Hofsaess M, Gewert S, Eyerich K, Has C. IL-6 levels dominate the serum cytokine signature of severe epidermolysis bullosa: A prospective cohort study. J Eur Acad Dermatol Venereol. (2024) Feb 20. Publication Project
  19. Lau CH, Rouhani MJ, Maughan EF, Orr JC, Kolluri KK, Pearce DR, Haughey EK, Sutton L, Flatau S, Balboa PL, Bageta ML, O'Callaghan C, Smith CM, Janes SM, Hewitt R, Petrof G, Martinez AE, McGrath JA, Butler CR, Hynds RE. Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa. Mol Ther. (2024) Feb 29:S1525-0016(24)00101-1. Publication Project
  20. Raymakers AJN, Kesselheim AS, Mostaghimi A, Feldman WB. Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa. JAMA Dermatol. (2024) Jan 31. Publication
  21. Korte EWH, Spuls PI, van den Akker PC, Kiritsi D, Laimer M, Pasmooij AMG, Riedl R, Vroom E, Wally V, Welponer T, Bolling MC. Harmonization of outcomes in epidermolysis bullosa: report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting. Br J Dermatol. (2024) Jan 23;190(2):268-270. Publication
  22. Salamon G, Strobl S, Field-Werners U, Diem A, Schwieger-Briel A, Pope E. iscorEB-p: A patient-reported outcome measure for Epidermolysis bullosa. Psychometric properties of the Patient Score from the Instrument for Scoring Clinical Outcome of Research for EB. Br J Dermatol. (2024) Jan 23:ljae019. Publication Project Project
  23. Jeffs E, Pillay E, Ledwaba-Chapman L, Bisquera A, Robertson S, McGrath J, Wang Y, Martinez A, Patel A, Mellerio J. Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study. Skin Health Dis. (2024) Jan 10;4(1):e314. Publication Project
  24. Hainzl S, Trattner L, Liemberger B, Bischof J, Kocher T, Ablinger M, Nyström A, Obermayer A, Klausegger A, Guttmann-Gruber C, Wally V, Bauer JW, Hofbauer JP, Koller U. Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa. Int J Mol Sci. (2024) Jan 7;25(2):761. Publication
  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. MicroRNA-200b-mediated reversion of a spectrum of epithelial-to-mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas. Br J Dermatol. (2023) Dec 20;190(1):80-93. Publication Project
  2. Berthault C, Gaucher S, Gouin O, Schmitt A, Chen M, Woodley D, Titeux M, Hovnanian A, Izmiryan A. Highly efficient ex-vivo correction of COL7A1 through RNP-based CRISPR/Cas9 and Homology-Directed Repair to treat recessive dystrophic epidermolysis bullosa. J Invest Dermatol. (2023) Dec 1:S0022-202X(23)03117-2. Publication Project
  3. [No authors listed] Topical Gene Therapy Restores Vision in Ocular Dystrophic Epidermolysis Bullosa. Am J Med Genet A. (2023) Nov;191(11):2669-2670. Publication ClinicalTrial NCT04917874 ClinicalTrial NCT04491604
  4. Khan A, Riaz R, Ashraf S, Akilimali A. Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa. Ann Med Surg (Lond). (2023) Dec; 85(12): 6298–6301. Publication ClinicalTrial NCT03536143 ClinicalTrial NCT04491604
  5. Wimmer B, Friedrich A, Poeltner K, Edobor G, Mosshammer C, Temaj G, Rathner A, Karl T, Krauss J, von Hagen J, Gerner C, Breitenbach M, Hintner H, Bauer JW, Breitenbach-Koller H. En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa. JID Innov. (2023) Nov 10;4(1):100240. Publication
  6. South AP, Laimer M, Gueye M, Sui JY, Eichenfield LF, Mellerio JE, Nyström A. Type VII Collagen Deficiency in the Oncogenesis of Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa. J Invest Dermatol. (2023) Nov;143(11):2108-2119. Publication
  7. 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) Sep 4;18(1):268. Publication
  8. Sacedón R, de Arriba MC, Martínez-Santamaría L, Maseda R, Herráiz-Gil S, Jiménez E, Rosales I, Quintana L, Illera N, García M, Butta N, Fernández-Bello I, Lwin SM, Fernández-Arquero M, León C, McGrath JA, Vicente MÁ, Del Río M, de Lucas R, Sánchez-Ramón S, Escámez MJ. Gluten-sensitive Enteropathy in Recessive Dystrophic Epidermolysis Bullosa. Br J Dermatol. (2023) Sep 16;189(6):774-776. Publication Project ClinicalTrial NCT04153630
  9. 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. J Eur Acad Dermatol Venereol. (2023) Sep 5. Publication
  10. Heo YA. Birch Bark Extract: A Review in Epidermolysis Bullosa. Drugs. (2023) Sep 2. Publication ClinicalTrial NCT04917874
  11. Epstein AL, Haag-Molkenteller C. Herpes simplex virus gene therapy for dystrophic epidermolysis bullosa (DEB). Cell (2023) Aug 17;186(17):3523-3523.e1. Publication ClinicalTrial NCT03536143
  12. Dhillon S. Beremagene Geperpavec: First Approval. Drugs. (2023) Aug;83(12):1131-1135. Publication ClinicalTrial NCT04491604
  13. Rietscher K, Homberg M, Kovalenko I, Sexton JZ, Rice RH, Has C, Omary MB, Magin TM. Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates. J Dermatol Sci. 2023 Aug 29:S0923-1811(23)00184-6. Publication Project
  14. Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study. Orphanet J Rare Dis. (2023) Aug 9;18(1):235. Publication Project
  15. Sun J., Li P., Gui H., Rittié L., Lombard DB., Rietscher K., Magin TM., Xie Q., Liu L., Omary M. Deacetylation via SIRT2 prevents keratin mutation-associated injury and keratin filament disruption. JCI Insight (2023) Jul 24;8(14):e166314. Publication Project
  16. Dieter K, Niebergall-Roth E, Daniele C, Fluhr S, Frank NY, Ganss C, Kiritsi D, McGrath JA, Tolar J, Frank MH, Kluth MA. ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa. Cytotherapy. (2023) Jul;25(7):782-788. Publication ClinicalTrial NCT03529877
  17. Koller U. Gene therapy advances shine the spotlight on epidermolysis bullosa, bringing hope to patients. Mol Ther. (2023) Jul 5;31(7):1860-1861. Publication
  18. 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 harmonization. Br J Dermatol. (2023) Jul 7;189(1):80-90. Publication
  19. 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. Cancers (Basel). (2023) Jun 22;15(13):3286. Publication Project
  20. Trefzer L, Hess ME, Scholten L, Technau-Hafsi K, Meiss F, Boerries M, Has C, Rafei-Shamsabadi D. Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa. Acta Derm Venereol. (2023) Jun 20;103:adv4870. Publication
  21. Teng J, Paller AS, Bruckner AL. Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial. J Drugs Dermatol. (2023) Jun 1;22(6):599-604. Publication ClinicalTrial NCT03389308
  22. Niebergall-Roth E, Dieter K, Daniele C, Fluhr S, Khokhrina M, Silva I, Ganss C, Frank MH, Kluth MA. Kinetics of Wound Development and Healing Suggests a Skin-Stabilizing Effect of Allogeneic ABCB5+ Mesenchymal Stromal Cell Treatment in Recessive Dystrophic Epidermolysis Bullosa. Cells. (2023) May 24;12(11):1468. Publication ClinicalTrial NCT03529877
  23. Tartaglia G, Park PH, Alexander MH, Nyström A, Rosenbloom J, South AP. Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. Biomolecules. (2023) Apr 25;13(5):740. Publication Project
  24. 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. A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa. Int J Mol Sci. (2023) Mar 8;24(6):5197. Publication Project
  25. Neumayer G, Torkelson JL, Li S, McCarthy K, Zhen HH, Vangipuram M, Jackow J, Rami A, Hansen C, Guo Z, Gaddam S, Pappalardo A, Li L, Cramer A, Roy KR, Nguyen TM, Tanabe K, McGrath PS, Bruckner A, Bilousova G, Roop D, Bailey I, Tang JY, Christiano A, Steinmetz LM, Wernig M, Oro AE. A scalable, GMP-compatible, autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa. bioRxiv. (2023) Mar 1:2023.02.28.529447. Publication Project
  26. 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. COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents. Int J Mol Sci. (2023) Feb 22;24(5):4341. Publication Project
  27. Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, Löwe S, Davis C, Sumeray M, Bruckner AL, Murrell DF; EASE investigators. Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study. Br J Dermatol. (2023) Jan 23;188(1):12-21. Publication ClinicalTrial NCT03068780
  1. Reimer-Taschenbrecker A, Künstner A, Hirose M, Hübner S, Gewert S, Ibrahim S, Hauke B, Has C. Predominance of Staphylococcus Correlates with Wound Burden and Disease Activity in Dystrophic Epidermolysis Bullosa: A Prospective Case-Control Study. Journal of Investigative Dermatology (2022); DOI 10.1016/j.jid.2022.01.020. Publication Project
  2. Gurevich I, Agarwal P, Zhang P, Dolorito J, Oliver S, Liu H, Reitze N, Sarma N, Bagci I, Sridhar, Kakarla V, Yenamandra V, O'Malley M, Prisco M, Tufa S, Keene D, South A, Krishnan S, Marinkovich M. In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial. Nature Medicine (2022); DOI: 10.1038/s41591-022-01737-y Publication
  3. Bischof J, March O, Liemberger B, Haas S, Hainzl S, Petković I, Leb-Reichl, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder H, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Piñón Hofbauer J, Bauer J, Cathomen T, Kocher T, Koller U. Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. Mol. Ther. (2022); DOI 10.1016/j.ymthe.2022.04.020. Publication Project Project

  4. Chacón-Solano E, León C, Carretero M, García M, Sánchez-Domínguez R, Quero F, Méndez-Jiménez E, Bonafont J, Ruiz-Mezcua B, Escámez M, Larcher F, Del Río M. Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis. ScienceDirect (Vol 111, 2022); DOI: 10.1016/j.matbio.2022.06.007 Publication Project

  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 A, Bauer J, Reichelt J, Furihata T, Wally V, Koller U, Piñón Hofbauer J, Guttman-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. Int. J. Mol. Sci. 2022, 23(1), 575; https://doi.org/10.3390/ijms23010575. Publication Project

  6. Haidari H, Vasilev K, Cowin A, Kopecki Z. Bacteria-Activated Dual pH- and Temperature-Responsive Hydrogel for Targeted Elimination of Infection and Improved Wound Healing. ACS Appl. Mater. Interfaces 2022, 14, 46, 51744–51762; https://doi.org/10.1021/acsami.2c15659. Publication Project

  7. Petković I, Bischof J, Kocher T, March O, Liemberger B, Hainzl S, Strunk D, Raninger A, Binder H, Reichelt J, Guttmann-Gruber C, Wally V, Piñón Hofbauer J, Bauer J, Koller U. COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa. Front Med (Lausanne); 2022. 25;9:976604. DOI: 10.3389/fmed.2022.976604.eCollection 2022. Publication Project Project

  8. García M., Bonafont J., Martínez-Palacios J., Xu R., Turchiano G., Svensson St., Thrasher A.J., Larcher F., Del Rio M., Hernández-Alcoceba R., Garín M.I., Mencía A., Murillas R. Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors Molecular Therapy: Methods & Clinical Development Vol. 27 Published:September 15, 2022 DOI:https://doi.org/10.1016/j.omtm.2022.09.005 Publication Project

  9. Chacón-Solano E., León C., Carretero M., García M., Sánchez-Domínguez R., Quero F., Méndez-Jiménez E., Bonafont J., Ruiz-Mezcua B., Escámez M.J., Larcher F., del Río M., Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis  Matrix Biology. (2022) 111, 189-206 DOI:https://doi.org/10.1016/j.matbio.2022.06.007 Publication Project

  10. Ramovs V., Janssen H., Fuentes I., Pitaval A., Rachidi W., Chuva de Sousa Lopes SM., Freund C., Gidrol X., Mummery CL., Raymond K. Characterization of the epidermal-dermal junction in human induced pluripotent stem cell-derived skin organoids. Stem Cell Reports (2022) Doi: 10.1016/j.stemcr.2022.04.008 Publication Project

  11. Rietscher K, Jahnke HG, Rübsam M, Lin EW, Has C, Omary MB, Niessen CM, Magin TM. Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization. J Invest Dermatol. 2022 Dec;142(12):3282-3293. doi: 10.1016/j.jid.2022.05.1088. Epub 2022 Jun 9. PMID: 35691363. Publication Project

  1. Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, DEBRA Austria / Registered Charity No: ZVR 412404499 DEBRA Reporting form – Final Report Version: June 2022 page 7 / 9 Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR (2021). Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Am J Med Genet A. 2021 Aug 26;. doi: 10.1002/ajmg.a.62456. Publication Project

  2. Condorelli AG, El Hachem M, Zambruno G, Nystrom A, Candi E, Castiglia D. Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway. J Biomed Sci. 2021; 28:36. doi: 10.1186/s12929-021-00732-8. Publication Project Project Project

  3. King A, Hanley H, Popenhagen M, Perez F, Thompson K, Purvis D, Garcia N, Steinlein I, Werkentoft M, Lightfoot M, Lahat M, Begum K, Tanabe J. Clinical Practice Guidelines - Supporting sexuality for people living with epidermolysis bullosa: clinical practiceguidelines. King et al. Orphanet J Rare Dis (2021); 16:9; DOI 10.1186/s13023-020-01640-0. Publication
  4. Tang J Y, Marinkovich M P, Lucas E, Gorell E, Chiou A, Lu Y, Gillon J, Patel D, and Rudin D. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Tang et al. Orphanet Journal of Rare Diseases (2021); 16:175; DOI 10.1186/s13023-021-01811-7. Publication
  5. Haidari H, Bright R, Strudwick X, Garg S, Vasilev K., Cowin A,​​​​ Kopecki Z. ​​​​​​Multifunctional ultrasmall AgNP hydrogel accelerates healing of S. aureus infected wounds. Acta Biomaterialia Volume 128 (2021); 420-434; DOI 10.1016/j.actbio.2021.04.007. Publication Project
  6. Haidari H, Kopecki Z, Sutton A, Garg S, Cowin A,​​​ Bright R, Vasilev K.  pH-Responsive “Smart” Hydrogel for Controlled Delivery of Silver Nanoparticles to Infected Wounds. Antibiotics (2021); 10(1): 49; DOI: 10.3390/antibiotics10010049. Publication Project
  7. Kocher T, Bischof J, Haas S, March O, Liemberger B, Hainzl S, Illmer J, Hoog A, Muigg K, Binder H, Klausegger A, Strunk D, Bauer J, Cathomen T, Koller U. A non-viral and selection-free COL7A1HDR approach with improved safety profile for dystrophic epidermolysis bullosa. Molecular Therapy Nucleic Acids (25) 2021; 237-250; DOI: 10.1016/j.omtn.2021.05.015. Publication Project
  8. Schräder N, Gorell E, Stewart R, Duipmans J, Harris N, Perez V, Tang J, Wolff A, Bolling M. Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study. Orphanet J Rare Dis 16, 377 (2021). DOI: 10.1186/s13023-021-02010-0. Publication
  9. Kocher T, Bischof J, Haas S, March O, Liemberger B, Hainzl S, Illmer J, Hoog A, Muigg K, Binder H, Klausegger A, Strunk D, Bauer J, Cathomen T, Koller U. A non-viral and selection-free COL7A1HDR approach with improved safety profile for dystrophic epidermolysis bullosa. Molecular Therapy Nucleic Acids (25) 2021; 237-250; DOI: 10.1016/j.omtn.2021.05.015. Publication

  10. San Tan T., Common J., Lim J., Badowski C., Firdaus M., Leonardi S., Lane E. A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex. Jorunal of Cell Science (134) 2021; 19; DOI: 10.1242/jcs.258409. Publication Project

  11. Guttman-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, Wolkersdorfer M, Tham K, Lim S, Common J, Diem A, Ude-Schoder K, Hitzl W, Lagler F, Reichelt J, Bauer J, 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 Journal of Rare Diseases (473) 2021; DOI: 10.1186/s13023-021-02062-2. Publication Project

  12. Laly A, Sliogeryte K, Pundel O, Ross R, Keeling M, Avisetti D, Waseem A, Gavara N, Conelly J. The keratin network of intermediate filaments regulates keratinocyte rigidity sensing and nuclear mechanotransduction. Sci Adv. 2021 Jan; 7(5): eabd6187; DOI: 10.1126/sciadv.abd6187 Publication Project

  13. Haidari H., Bright R., Garg S., Vasilev K., Cowin A. J., Kopecki Z. Eradication of Mature Bacterial Biofilms with Concurrent Improvement in Chronic Wound Healing Using Silver Nanoparticle Hydrogel Treatment Biomedicines 2021, 9(9), 1182 https://doi.org/10.3390/biomedicines9091182 Publication Project

  14. Smith B. R.C., Nyström A., Nowell C.J., Hausser I., Gretzmeier Ch., Roberstson S.J., Varigos G.A., Has C., Kern J.S., Pang K.C. Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease Dis Model Mech. 2021 Jun 1; 14(6): dmm048082. DOI: 10.1242/dmm.048082 Publication Project

  15. Ramos V., Fuentes I., Freund Ch., Mikkers H., Mummery Ch. L., Raymond K. Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24 Stem Cell Res 2021 Oct 21;57:102582 DOI: 10.1016/j.scr.2021.102582. Online ahead of print. Publication Project
  1. Has C, Bauer J, Bodemer C, Bollin M, Bruckner-Tuderman L, Diem A, Fine J.-D, Heagerty A, Hovnanian A, Marinkovich P, Martinez A, McGrath J, Moss C, Murrell D, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley D, Zambruno G, Mellerio J. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. British Journal of Dermatology 2020; DOI 10.1111/bjd.18921. Publication
  2. Wimmer M, Zauner R, Ablinger M, Piñón-Hofbauer J, Guttman-Gruber C, Reisenberger M, Lettner T, Niklas N, Proell J, Sajinovic M, De Souza P, Hainzl S, Kocher T, Murauer E, Bauer J, Strunk D, Reichelt J, Sleiman Mellick A, Wally V. A Cancer Stem Cell-Like Phenotype Is Associated With miR-10b Expression in Aggressive Squamous Cell Carcinomas. Cell Communication and Signaling 2020; 18(1):61; DOI 10.1186/s12964-020-00550-9. Publication Project
  3. Prodinger C, Diem A, Ude-Schoder K, Piñón-Hofbauer J, Kitzmueller S, Bauer J, Laimer M. Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa. Orphanet Journal of Rare Diseases 2020; 15: 128. Publication
  4. Haidari H, Kopecki Z, Bright R., Cowin A, Garg S, Goswami N, Vasilev K. Ultrasmall AgNP-Impregnated Biocompatible Hydrogel with Highly Effective Biofilm Elimination Properties. ACS Applied Materials & Interfaces 2020. Publication Project
  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, 140(10): 1985-1993.e5, ISSN 0022-202X Publication
  6. March OP, Kocher T, Koller U. Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses. Cells 2020, 9(1):112. Publication Project & Project
  7. 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 2020; S0022-202X(20)32061-3. doi: 10.1016/j.jid.2020.08.018. Publication
  8. 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. Publication
  9. Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Sanchit Paul, Molina G, Arriagada C, Cornwall R, Castrillón F, Clark V, Sepúlveda L, Araya I, Soto R, Lucky A.W, Mellerio J.E, Alsayer F, Schilke R, Antal M.A, Paredes C, Concepción Serrano M. Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa. Whiley 2020; DOI: 10.1111/scd.12511. Publication
  10. Titeux M, Bonnet des Claustres M, Izmiryan A, Ragot H, Hovnanian A. Emerging drugs for the treatment of epidermolysis bullosa. Expert Opin Emerg Drugs 2020. Dec;25(4):467-489. Publication Project
  11. Haidari H, Garg S, Vasilev K, Kopecki Z, Cowin A. Silver-based wound dressings: current issues and future developments for treating bacterial infections. 2020; DOI: 10.33235/wpr.28.4.173-180. Publication Project
  12. Bardhan A, Bruckner-Tuderman L, Chapple I L C, Fine J-D, Harper N, Has C, Magin Th M, Marinkovich M P, Marshall J F, McGrath J A, Mellerio J, Polson R, Heagerty A H Epidermolysis bullosa Nature Reviews Disease Primers 2020 Sep 24;6(1):78. DOI: 10.1038/s41572-020-0210-0. Publication
  1. Bonafont J, Mencía Á, García M., Torres R., Rodríguez S., Carretero M., Chacón-Solano E., Modamio-Hᴓybjᴓr S., Marinas L, León C, Escamez M, Hausser I, Del Río M, Murillas R, Larcher F. Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. Molecular Therapy 2019; 27(5):986-998. Publication Project
  2. Kocher, T, Wagner, R, Klausegger, A, Guttmann-Gruber, C, Hainzl, S, Bauer, J, Reichelt, J, Koller, U. Improved double-nicking strategies for COL7A1 editing by homologous recombination. Mol Ther Nucleic Acids 2019. Publication Project
  3. Klicznik M, Morawski P, Höllbacher B, Varkhande S, Motley S, Kuri-Cervantes L, Goodwin E, Rosenblum M, Long S, Brachtl G, Duhen T, Betts M, Campbell D, Gratz I. Human CD4+CD103+ cutaneous resident memory T cells are found in the circulation of healthy individuals. Science Immunology 2019; 4(37):eaav8995 Publication Project
  4. Castelo B, Viñal D, Maseda R, Ostios L, Sánchez D, García-Salvatierra B, Escámez M, Martínez-Santamaría L, Del Río M, Mora-Rillo M, Vilches Y, Beato M, López-Gutiérrez J, Romero N, Santos C, Miranda J, De Luca R. Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain. Clinical & translational Oncology 2019; 21(11):1573-1577. Publication
  5. Chacón‐Solano E, León C, Díaz F, García‐García F, García M, Escámez M, Guerrero‐Aspizua S, Conti C, Mencía Á, Martínez‐Santamaría L, Llames S, Pévida M, Carbonell‐Caballero J, Puig‐Butillé J, Maseda R, Puig S, De Luca R, Baselga E, Larcher F, Dopazo J, Del Río M. Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses. British Journal of Dermatology 2019; 181(3): 512-522. Publication
  6. Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero M, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller A, Zambruno G, Fischer J, Palisson F, Has C. Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy. J of Invest Dermatol 2019; 139(1):244-249. Publication Project
  7. Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C. A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa. Acta Derm Venereol 2019; 99(4):460-46. Publication Project
  8. Kroeger J, Hoppe E, Galiger C, Has C, Franzke C. Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring. Matrix Biology 2019; 80:72-84. Publication Project
  9. Liao Y, Zhu H, Ivanova L, Mitchell S. Innovations in human stem cell research: A holy grail for regenerative medicine. Innovations in Cell Research and Therapy 2019; Open access peer-reviewed chapter. DOI: 10.5772/intechopen.88790. Publication Project
  10. Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, Bruckner-Tuderman L, Has C. Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study. British Journal of Dermatology 2019; Publication Project
  11. Condorlli A, Dellambra E, Logli E, Zambruno G, Castiglia D. Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives. Int. J. Mol. Sci. 2019, 20(22), 5707. Publication Project
  12. Martin K, Geuens S, Asche J.K, Bodan R, Browne F, Downe A, GarcíaGarcía N, Jaega G, Kennedy B, Mauritz P.J, Pérez F, Soon K, Zmazek V, Mayre-Chilton K.M. Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. Martin et al. Orphanet Journal of Rare Diseases 2019; 14:133; DOI 10.1186/s13023-019-1086-5. Publication
  13. Hubbard L and Jones R. Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa. DEBRA International, 2019. Publication
  14. Chan J.M, Weisman A, King A, Maksomski S, Shotwell C, Bailie C, Weaver H, Bodan R, Guerrero E, Zmazek M, Khuu P. Occupational therapy for epidermolysis bullosa: clinical practice guidelines. Orphanet Journal of Rare Diseases 2019; 14:129 DOI 10.1186/s13023-019-1059-8. Publication
  15. Has C,Liu L, Bolling M.C, Charlesworth A.V, El Hachem M, Escamez M.J, Fuentes I, Buchel S, Hiremagalore R, Pohla-Gubo G, van den Akker P.C, Wertheim-Tysarowska K, G. Zambruno G. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. British Journal of Dermatology 2019; DOI 10.1111/bjd.18128. Publication
  16. Khan M.T, O’Sullivan M, Faitli B, Mellerio J.E, Fawkes R, Wood M, Hubbard L.D, Harris A.G, Iacobaccio L, Vlahovic T  , James L, Brains L, Fitzpatrick M, Mayre-Chilton K. Foot care in epidermolysis bullosa: evidence-based guideline. British Journal of Dermatology 2019; DOI 10.1111/bjd.18381. Publication
  17. Haidari H, Goswami N, Bright R, Kopecki Z, Cowin A, Garg S, ​​​ Bright R, Vasilev K. The interplay between size and valence state on the antibacterial activity of sub-10 nm silver nanoparticles. Nanoscale Advances (6) 2019; DOI: 10.1039/c9na00017h. Publication Project
  1. Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames S, Escámez M, Hausser I, Del Río M, Larcher F, Murillas R. Delition of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Edition Correction of RDEB Patient Epidermal Stem Cells. Molecular Therapy Nucleic Acids 2018; 11:68-78. Publication Project
  2. Sánchez-Jimeno C, Escámez M, Ayuso C, Trujillo-Tiebas M, Del Río M. Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group. ACTAS Dermo-Sifiliográficas 2018; 109(2):104-122. Publication Project
  3. Guttman-Gruber C, Tockner B, Scharler C, Hüttner C, Common J, Tay A, Denil S, Klausegger A, Trost A, Breitenbach J, Schnitzhofer P, Hofbauer P, Wolkersdorfer M, Diem A, Laimer M, Strunk D, Bauer J, 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. Publication Project
  4. Sun Y, Piñón-Hofbauer J, Harada M, Wöss K, Koller U, Morio H, Stierschneider A, Kitamura K, Hashimoto M, Chiba K, Akita H, Anzai N, Reichelt J, Bauer J, 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. Publication Project
  5. Sun Y, Wöss K, Kienzl M, Leb-Reichl V, Feinle A, Wimmer M, Zauner R, Wally V, Luetz-Meindl U, Mellerio J, Fuentes I, South A, Bauer J, Reichelt J, Furihata T, Guttmann-Gruber C, Piñón-Hofbauer J. Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma. Journal of Investigative Dermatology 2018;138(5):1197-1200. Publication Project
  6. Morio H, Sun Y, Harada M, Ide H, Shimozato O, Zhou X, Higashi K, Yuki R, Yamaguchi N, Piñón-Hofbauer J, Guttmann-Gruber C, Anzai N, Akita H, Chiba K, Furihata T. Cancer-Type OATP1B3 mRNA in Extracellular Vesicles as a Promising Candidate for a Serum-Based Colorectal Cancer Biomarker. Biological & pharmaceutical bulletin 2018; 41(3):445-9. Publication Project
  7. Klicznik M, Szenes-Nagy A, Campbell D, Gratz I. Taking the lead – how keratinocytes orchestrate skin T cell immunity. Immunology Letters 2018; 200:43-51 Publication Project
  8. Klicznik M, Benedetti A, Gail L, Holly R, Laimer M, Stoecklinger A, Sir A, Reitsamer R, Rosenblum M, Murauer E, Gratz I. A novel humanized mouse model to study human antigen-specific cutaneous T cell responses in vivo. bioRxiv preprint 2018 Publication Project
  9. Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, Ablinger M, Felder T, Hofbauer P, Wolkersdorfer M, Lagler F, Hitzl W, Laimer M, Kitzmüller S, Diem A, Bauer J. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. Journal of the American Academy of Dermatology 2018; 78(5):892-901.e7  Publication Project
  10. Ablinger M, Felder T, Wimmer M, Zauner R, Hofbauer P, Lettner T, Wolkersdorfer M, Lagler F, Diem A, Bauer J, Wally V. Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex. Orphanet Journal of Rare Diseases 2018; 13 Publication Project
  11. Mencía À, Chamarro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames S, Escámez M, Hausser I, Del Río M, Larcher F, Murillas R. Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells. Molecular Therapy Nucleic Acids 2018; 11: 68-87 Publication
  12. Büchau F, Munz C, Has C, Lehmann R, Magin T. KLHL16 degrades epidermal keratins. Journal of Investigative Dermatology 2018; 138(8):1871-1873. Publication Project
  13. Liao Y, Ivanova L, Sivalenka R, Plumer T, Zhu H, Zhang X, Christiano A, McGrath J, Gurney J, Cairo M. Efficacy of human placental derived stem cells in collagen VII knockout (recessive dystrophic epidermolysis bullosa) animal model. Stem Cells Translational Medicine 2018;  7(7):530-542. doi: 10.1002/sctm.17-0182. PMID: 29745997. Publication Project
  14. Liao Y, Ivanova L, Zhu H, Plumer T, Hamby C, Mehta B, Gevertz A, Christiano A, McGrath J, Cairo M. Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa. Stem Cells 2018; Dec;36(12):1839-1850. doi: 10.1002/stem.2907. PMID: 30247783 Publication Project
  15. Liemberger B, Piñón-Hofbauer J, Wally V, Arzt C, Hainzl S, Kocher T, Murauer E, Bauer J, Reichelt J, Koller U. RNA Trans-Splicing Modulation via Antisense Molecule Interference. Internacional Journal of Molecular Sciences 2018; Mar; 19(3): 762. doi: 10.3390/ijms19030762. PMID: 29518954. Publication Project

  16. Fuentes I, Guttman-Gruber C, Tay A, Piñón-Hofbauer J, Denil S, Reichelt J, Palisson F, Common J, South A. Reduced Microbial Diversity Is a Feature of Recessice Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds. The Journal of Investigative Dermatology 2018; Nov; 138(11): 2492-2495. doi: 10.1016/j.jid.2018.04.026. Publication Project
  1. Hainzl S, Peking P, Kocher, T Murauer E, Larcher F, Del Rio M, Duarte B, Steiner M, Klausegger A, Bauer J, Reichelt J, Koller U. COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. Molecular Therapy 2017; 25(11):2573-2584. Publication Project
  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 J, Murauer E. An RNA-targeted therapy for dystrophic epidermolysis bullosa. Nucleic Acids Research 2017;45:10259-69. Publication Project
  3. Knöpfel N, Noguera-Morel L, Hernández-Martin A, García-Martin A, Marcía M, Mencía Á, Pedrero R, De Lucas R, Escámez M, Torrelo A. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. Pedriatric Dermatology 2017; 35(2):e94-e98. Publication Project
  4. Von Bischoffshausen S, Ivulic D, Alvarez P, Schuffeneger V, Idiaquez J, Fuentes C, Morande P, Fuentes I, Palisson F, Bennett D, Calvo M. Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. Brain 2017; 140(5):1238–125.1 Publication Project
  5. Bauer J, Koller J, Murauer E, De Rosa L, Enzo E, Carulli S, Bondanza S, Recchia A, Muss W, Diem A, Mayr E, Schlager P, Gratz I, Pelligrini G, De Luca M. Closure of a Large Chronic Wound through Transplantation of Gene-Corrected Epidermal Stem Cells. Journal of Investigative Dermatology 2017; 137(3):778-781 Publication Project
  6. Denya J, Pillay E, Clapham J. Best Practice Guidelines - Skin and wound care in Epidermolysis bullosa. Wounds International 2017; Publication
  1. Peking P, Koller U, Hainzl S, Kitzmueller S, Kocher T, Mayr E, Nyström A, Lener T, Reichelt J, Bauer J, Murauer E. A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair. Molecular Therapy Nucleic Acids 2016;5:e287. Publication Project

  2. Mellerio J.E, Robertson J, Bernardis C, Diem A,5 Fine J.D, George R, Goldberg D, Halmos G.B, Harries M, Jonkman M.F, Lucky A, Martinez A.E, Maubec E, Morris S, Murrell D.F, Palisson F, Pillay E.I, Robson A, Salas-Alanis J, McGrath J.A. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. British Journal of Dermatology 2016; DOI 10.1111/bjd.14104. Publication

  3. He Y., Maier K., Leppert J., Hausser I., Schwieger-Briel A., Weibel L., Theiler M. Kiritsi D., Busch H., Boerries M., Hannula-Jouppi K., Heikkilä H., Tasanen K., Castiglia D., Zambruno G., Has C. Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility The American Journal of Human Genetics 99, 1395–1404, December 1, 2016  COI: 10.1016/j.ajhg.2016.11.005 Publication Project
  1. Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze J, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S. In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin. Molecular Therapy Nucleic Acids 2015; 4(11): e262 Publication Project
  2. Liao Y, Ivanova L, Zhu H, Yahr A, Ayello J, Van de Ven C, Rashad A, Uitto J, Christiano A, Cairo M. (2015). Rescue of the mucocutaneous manifestations by human cord blood derived non-hematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa. Stem Cells 2015; 33(6):1807-1817; doi:10.1002/stem.1966. PMID: 25640200. Publication Project 
  1. Koller U, Wally V, Bauer J, Murauer E. Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders. Molecular Therapy Nucleic Acids 2014;3(4):e157. Publication Project
  2. Hedstrom K, Murtie J, Albers K, Calcutt N, Corfasa G. Treating small fiber neuropathy by topical application of a small molecule modulator of ligand-induced GFRα/RET receptor signaling. Poc Natl Acad Sci USA 2014; 111(6):2325–2330. Publication Project
  3. Gratz I, Campbell D. Organ-Specific and Memory Treg Cells: Specificity, Development, Function, and Maintenance. Frontiers in Immunology 2014; 5:333 Publication Project
  4. Liao Y, Itoh M, Yang A, Zhu H, Roberts S, Highet A, Latshaw S, Mitchell K, Van de Ven C, Christiano A, Cairo M. Human cord blood derived unrestricted somatic stem cells promote wound healing and have therapeutic potential for patients with recessive dystrophic epidermolysis bullosa. Cell Transplantation 2014;  23(3), 303-317. PMID: 23394106 Publication Project

  5. Goldschneider K.R, Good J, Harrop E, Liossi C, Lynch-Jordan A, Martinez A. E, Maxwell L.G, Stanko-Lopp D. Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Medicine 2014, 12:178. Publication

  6. Hedge V., Hickerson R.P., Nainamalai S., Compbell P.A., Smith F.J.D., McLean W.H.I., Pedrioli D.M.L., In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation J Control Release 2014 Dec 28;196:355-62 DOI: 10.1016/j.jconrel.2014.10.022
  1. Wally V, Kitzmüller S, Lagler F, Moder A, Hitzl W, Wolkersdorfer M, Hofbauer P, Felder T, Dornauer M, Diem A, Eiler N, Bauer J. Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet Journal of Rare Diseases. 2013; 8 Publication Project

  2. Sproule Th., Roopenian D.C., Sundberg J.P.A Direct Method to Determine the Strength of the Dermal – Epidermal Junction in a Mouse Model for Epidermolysis Bullosa  Exp Dermatol. 2012 Jun; 21(6): 453–455. DOI: 10.1111/j.1600-0625.2012.01482.x Publication Project

  3. Atkinson S.D., McGilligan V.E., Liao H., Szevereneyi I., Smith F.J.D., Moore C.B.T., McLean I., Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex Journal of Investigative Dermatology Volume 131, Issue 10, October 2011, Pages 2079-2086 DOI: https://doi.org/10.1038/jid.2011.169 Publication Project

  4. Bubier J. A., Sproule Th. J., Alley L. M., Webb C. M., Fine J.-D., Roopenian D. C., Sundberg J. P., A mouse model of generalized non-Herlitz junctional epidermolysis bullosa J Invest Dermatology 2010 Jul;130(7):1819-28. DOI: 10.1038/jid.2010.46. Publication Project
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