Skip to content
Letters forming the word Publications

Publications

Publications related to research projects listed on this website are provided. All publications have a direct link to the publication itself and to the related project.

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. 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

  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. (2019). Innovations in human stem cell research: A holy grail for regenerative medicine. Innovations in Cell Research and Therapy 2019; Open access peer-reviewed chapter. Published: August 27th 2019. DOI: 10.5772/intechopen.88790. 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
  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
  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
  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
Back to main navigation
This website uses cookies to give you the best possible service. By using this website, you agree to the use of cookies. Detailed information can be found in our privacy policy .