Review
Dermatology
K. S. Subramaniam, M. N. Antoniou, J. A. McGrath, S. M. Lwin
Summary: Epidermolysis bullosa (EB) is a group of inherited skin disorders with debilitating consequences. Recessive dystrophic EB (RDEB) is especially severe and can lead to chronic wounds and squamous cell carcinoma. Advances in molecular genetics and biotechnology have paved the way for gene and cell-based therapies for EB, and RDEB has become the focus of clinical trials. There is a global effort involving academia, industry, and patient organizations to develop targeted therapeutics for EB. Dermatologists should familiarize themselves with gene therapy and its applications.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Dermatology
Yasushi Kikuchi, Tomoki Tamakoshi, Ryuichi Ishida, Ryosuke Kobayashi, Shiho Mori, Akemi Ishida-Yamamoto, Manabu Fujimoto, Yasufumi Kaneda, Katsuto Tamai
Summary: In this study, researchers developed an ex vivo gene therapy for recessive dystrophic epidermolysis bullosa (RDEB) using autologous mesenchymal stromal cells (MSCs). The gene-modified MSCs were injected into mice with type VII collagen deficiency, leading to continuous and widespread expression of type VII collagen. The therapy showed successful application in both early blistering skin and advanced ulcerative lesions in the RDEB mouse model.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Editorial Material
Medicine, Research & Experimental
Christen L. Ebens
Summary: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic blistering skin disease caused by biallelic mutations in the COL7A1 gene. Clinical manifestations include fragile skin, pain, itch, high metabolic demand, and dermal fibrosis.
EMBO MOLECULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Irina Gurevich, Pooja Agarwal, PeiPei Zhang, John A. Dolorito, Stacie Oliver, Henry Liu, Nicholas Reitze, Nikhil Sarma, Isin Sinem Bagci, Kunju Sridhar, Visesha Kakarla, Vamsi K. Yenamandra, Mark O'Malley, Marco Prisco, Sara F. Tufa, Douglas R. Keene, Andrew P. South, Suma M. Krishnan, M. Peter Marinkovich
Summary: This study evaluated the use of an engineered viral vector, B-VEC, for the treatment of recessive dystrophic epidermolysis bullosa (RDEB) patients with wounds. The results showed that B-VEC promotes wound healing and is well-tolerated.
Article
Biotechnology & Applied Microbiology
Sung-Ah Hong, Song-Ee Kim, A-Young Lee, Gue-Ho Hwang, Jong Hoon Kim, Hiroaki Iwata, Soo-Chan Kim, Sangsu Bae, Sang Eun Lee
Summary: In this study, researchers identified and corrected pathogenic mutations in the COL7A1 gene using adenine base editors and prime editors in patients with recessive dystrophic epidermolysis bullosa (RDEB). The edited patient-derived skin equivalents showed positive outcomes in terms of C7 deposition and anchoring fibril formation, suggesting the feasibility of ex vivo gene editing as a potential treatment for RDEB.
Article
Medicine, Research & Experimental
Satoshi Takaki, Takashi Shimbo, Kentaro Ikegami, Tomomi Kitayama, Yukari Yamamoto, Sho Yamazaki, Shiho Mori, Katsuto Tamai
Summary: This article describes a strategy to create an animal model for the study of the genetic skin disease Recessive dystrophic epidermolysis bullosa (RDEB). The researchers used CRISPR-mediated genome editing to introduce pathogenic mutations into mice, successfully mimicking the genomic background and disease phenotype of patients. This model will contribute to a better understanding of the pathogenesis of RDEB and open up new avenues for the development of a cure for this disease.
LABORATORY INVESTIGATION
(2022)
Article
Dermatology
David T. Woodley, Jon Cogan, Daniel Mosallaei, Kaitlyn Yim, Mei Chen
Summary: This study revealed that mutations associated with recessive dystrophic epidermolysis bullosa manifested temperature-sensitive structural and functional aberrancies in type VII collagen, particularly in the Inversa subset. Lowering the temperature could reverse these abnormalities, suggesting a potential mechanism for the clinical manifestations observed in RDEB-Inversa patients.
JOURNAL OF DERMATOLOGICAL SCIENCE
(2021)
Article
Dermatology
Christine Gretzmeier, Didier Pin, Johannes S. Kern, Mei Chen, David T. Woodley, Leena Bruckner-Tuderman, Mark P. de Souza, Alexander Nystroem
Summary: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin disease characterized by skin blistering and fibrosis. This study found that intravenous administration of recombinant C7 can reduce fibrosis in RDEB patients, and this treatment method is well-tolerated in mice and dogs.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
S. J. Robertson, C. Prodinger, L. Liu, C. Skilbeck, G. Petrof, A. E. Martinez, J. E. Mellerio, D. T. Greenblatt
Summary: The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. This study found a higher prevalence of otological complications in RDEB-I patients than previously reported, and presented the first case of cholesteatoma in RDEB-I. Bone-anchored hearing aids (BAHA) and middle ear implants (MEI) were identified as safe and effective treatment options for hearing loss in RDEB-I patients.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2022)
Article
Dermatology
Victor A. Eng, Daniel C. Solis, Emily S. Gorell, Sara Choi, Jaron Nazaroff, Shufeng Li, Mark P. de Souza, Dedee F. Murrell, M. Peter Marinkovich, Jean Y. Tang
Summary: The study revealed a significant correlation between skin disease severity and quality of life in patients with recessive dystrophic epidermolysis bullosa. Symptoms like pain and itch were associated with worsening skin disease severity, while larger wound size was linked to worse quality of life.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2021)
Article
Immunology
Giovanni Di Zenzo, Giovanna Floriddia, Sabrina Rossi, Feliciana Mariotti, Alessia Primerano, Angelo Giuseppe Condorelli, Biagio Didona, Daniele Castiglia
Summary: This study reports a case of a patient with hereditary epidermolysis bullosa (EB) who also developed an autoimmune response to basement membrane components. Diagnosis of bullous pemphigoid (BP) was confirmed by detecting antibodies in the patient's skin and serum. Corticosteroid therapy led to remission of BP manifestations. EB patients presenting rapid disease worsening should be investigated for the development of a concomitant autoimmune blistering disease.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Jose Bonafont, Angeles Mencia, Esteban Chacon-Solano, Wai Srifa, Sriram Vaidyanathan, Rosa Romano, Marta Garcia, Rosario Hervas-Salcedo, Laura Ugalde, Blanca Duarte, Matthew H. Porteus, Marcela Del Rio, Fernando Larcher, Rodolfo Murillas
Summary: This study presents a gene-editing approach using CRISPR-Cas9 system to achieve gene correction in different cell types, showing therapeutic potential for RDEB.
Review
Genetics & Heredity
Alexander Nystroem, Leena Bruckner-Tuderman, Dimitra Kiritsi
Summary: This article discusses the pathological mechanisms and modifiers in the monogenetic disease DEB, as well as related methods for alleviating the condition by targeting secondary disease mechanisms or utilizing natural disease modifiers.
FRONTIERS IN GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Grace Tartaglia, Qingqing Cao, Zachary M. Padron, Andrew P. South
Summary: RDEB is a devastating skin blistering disease caused by mutations in the C7 gene, leading to rapid fibrosis development, chronic wounds, and squamous cell carcinoma. It serves as a model for understanding the molecular basis of fibrosis and rapidly developing aggressive cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Dermatology
Mohammad Reza Pourani, Hassan Vahidnezhad, Parvin Mansouri, Leila Youssefian, Azadeh Rakhshan, Behzad Hajimoradi, Fahimeh Abdollahimajd, Jouni Uitto
Summary: This case series reports the beneficial effects of losartan on RDEB as a potentially novel treatment. Losartan can improve the clinical features and severity of the disease, and enhance the quality of life for patients with RDEB.
DERMATOLOGIC THERAPY
(2022)
Letter
Dermatology
Ignacia Fuentes, Christina Guttmann-Gruber, Angeline Su Ling Tay, Josefina Pinon Hofbauer, Simon L. I. J. Denil, Julia Reichelt, Francis Palisson, John E. A. Common, Andrew P. South
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2018)
Article
Plant Sciences
Mina Karimpour, Mohammad Ali Hosseinpour Feizi, Majid Mahdavi, Barbara Krammer, Thomas Verwanger, Farhood Najafi, Esmaeil Babaei
Article
Oncology
Velina S. Atanasova, Celine Pourreyron, Mehdi Farshchian, Michael Lawler, Christian A. Brown, Stephen A. Watt, Sheila Wright, Michael Warkala, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Ignacia Fuentes, Marco Prisco, Elham Rashidghamat, Cristina Has, Julio C. Salas-Alanis, Francis Palisson, Alain Hovnanian, John A. McGrath, Jemima E. Mellerio, Johann W. Bauer, Andrew P. South
CLINICAL CANCER RESEARCH
(2019)
Article
Dermatology
Velina S. Atanasova, Rebecca J. Russell, Timothy G. Webster, Qingqing Cao, Pooja Agarwal, Yok Zuan Lim, Suma Krishnan, Ignacia Fuentes, Christina Guttmann-Gruber, John A. McGrath, Julio C. Salas-Alanis, Andrzej Fertala, Andrew P. South
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Article
Nanoscience & Nanotechnology
Hajar Maleki, Mohammad-Ali Shahbazi, Susan Montes, Seyed Hojjat Hosseini, Mohammad Reza Eskandari, Stefan Zaunschirm, Thomas Verwanger, Sanjay Mathur, Barbara Milow, Barbara Krammer, Nicola Huesing
ACS APPLIED MATERIALS & INTERFACES
(2019)
Article
Dermatology
Oliver P. March, Thomas Lettner, Alfred Klausegger, Michael Ablinger, Thomas Kocher, Stefan Hainzl, Patricia Peking, Nina Lackner, Neil Rajan, Josefina Pinon Hofbauer, Christina Guttmann-Gruber, Anette Bygum, Ulrich Koller, Julia Reichelt
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Article
Cell Biology
Monika Wimmer, Roland Zauner, Michael Ablinger, Josefina Pinon-Hofbauer, Christina Guttmann-Gruber, Manuela Reisenberger, Thomas Lettner, Norbert Niklas, Johannes Proell, Mila Sajinovic, Paul De Souza, Stefan Hainzl, Thomas Kocher, Eva M. Murauer, Johann W. Bauer, Dirk Strunk, Julia Reichelt, Albert Sleiman Mellick, Verena Wally
CELL COMMUNICATION AND SIGNALING
(2020)
Article
Multidisciplinary Sciences
Ignacia Fuentes, Christina Guttmann-Gruber, Birgit Tockner, Anja Diem, Alfred Klausegger, Glenda Cofre-Araneda, Olga Figuera, Yessia Hidalgo, Pilar Morande, Francis Palisson, Boris Rebolledo-Jaramillo, Maria Joao Yubero, Raymond J. Cho, Heather I. Rishel, M. Peter Marinkovich, Joyce M. C. Teng, Timothy G. Webster, Marco Prisco, Luis H. Eraso, Josefina Pinon Hofbauer, Andrew P. South
SCIENTIFIC REPORTS
(2020)
Article
Biochemistry & Molecular Biology
Roland Zauner, Monika Wimmer, Sonja Dorfer, Michael Ablinger, Ulrich Koller, Josefina Pinon Hofbauer, Christina Guttmann-Gruber, Johann W. Bauer, Verena Wally
Summary: The study identified potential new drugs for treating SCC by leveraging transcriptome similarities between tumors. By systematically analyzing drug perturbation data, several candidate drugs targeting key molecules in the MEK signaling cascade, such as selumetinib, were identified for the potential treatment of SCC.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Elisabeth Mayr, Michael Ablinger, Thomas Lettner, Eva M. Murauer, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Stefan Hainzl, Manfred Kaiser, Alfred Klausegger, Johann W. Bauer, Ulrich Koller, Verena Wally
Summary: This study demonstrates the potential of endogenous 5' trans-splicing to correct mutations in the COL7A1 gene and modulate the RDEB phenotype, addressing the needs of patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer, Roland Lang, Martin Laimer
Summary: In this study, the efficacy and safety of low-dose calcipotriol, a vitamin D3 analogue, in promoting wound healing and reducing itch and pain in patients with dystrophic epidermolysis bullosa (DEB) were evaluated. The results showed that topical treatment with low-dose calcipotriol can accelerate wound closure and significantly reduce itch, making it a safe and readily-available option to improve local wound care in DEB patients.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Oncology
Victoria M. Leb-Reichl, Melanie Kienzl, Anna Kaufmann, Angelika Stoecklinger, Birgit Tockner, Sophie Kitzmueller, Nadja Zaborsky, Markus Steiner, Gabriele Brachtl, Lisa Trattner, Patrick Kreideweiss, Christian Reinsch, Steffen Panzner, Richard Greil, Dirk Strunk, Johann W. Bauer, Iris K. Gratz, Christina Guttmann-Gruber, Josefina Pinon Hofbauer
Summary: The study demonstrates that redirecting pre-existing measles virus immunity can inhibit tumor growth and enhance resistance to tumors in mice. This approach activates MeV cytotoxic T lymphocyte immunity by increasing interferon gamma production and specific T cell proliferation, which reduces antigen-pulsed target cells in tumors.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2021)
Article
Cell Biology
Melanie Kovacs, Florian Geltinger, Thomas Verwanger, Richard Weiss, Klaus Richter, Mark Rinnerthaler
Summary: In addition to storing neutral lipids and sterols, lipid droplets (LDs) are also involved in cellular detoxification. LDs interact closely with various organelles to mediate protein and lipid exchange. Increased LDs can prolong cell lifespan, reduce fragmentation and ROS production in mitochondria, serving as important regulators of aging.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Johann W. Bauer, Ulrich Koller
Summary: In this study, a cell line suitable for gene expression studies of the JEB-associated COL17A1 gene was developed using the CRISPR/Cas9 system. The accurate expression and localization of the GFP-C17 fusion protein were confirmed. Repairing a JEB-associated frameshift mutation restored the expression and localization of the fusion protein. This fluorescence-based JEB cell line has the potential to be used for personalized gene editing and applications in vitro and in animal models in vivo.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Chemistry, Multidisciplinary
Sara Michelini, Francesco Barbero, Alessandra Prinelli, Philip Steiner, Richard Weiss, Thomas Verwanger, Ancuela Andosch, Ursula Lutz-Meindl, Victor F. Puntes, Damjana Drobne, Albert Duschl, Jutta Horejs-Hoeck
Summary: The study revealed that gold nanoparticles (AuNPs) may impact dendritic cell function and alter immune responses, especially in the presence of microbial inflammatory stimulus lipopolysaccharide (LPS). The findings suggest that AuNPs are safe in homeostatic conditions but caution is needed in patients with infections or immune system disorders.
Article
Dermatology
Matthew J. Davis, Gokul Srinivasan, Rachael Chacko, Sophie Chen, Anish Suvarna, Louis J. Vaickus, Veronica C. Torres, Sassan Hodge, Eunice Y. Chen, Sarah Preum, Kimberley S. Samkoe, Brock C. Christensen, Matthew R. Leboeuf, Joshua J. Levy
Summary: The development and application of AI algorithms are of great significance for the removal of cSCC, as they can improve operational efficiency and accuracy, especially for moderately and poorly differentiated tumors/ neoplasms. Further improvement is needed to maintain sensitivity to surrounding tissue and determine anatomical positioning.
EXPERIMENTAL DERMATOLOGY
(2024)
Article
Dermatology
Lingjing Chen, Qing Yu, Feiying Guo, Xuewen Wang, Zhenying Cai, Qiang Zhou
Summary: This study investigated the role and mechanisms of NTS in stress-induced hair growth inhibition. The results demonstrated that NTS effectively counteracted hair growth inhibition caused by stress and regulated the expression of multiple genes related to hair growth at the transcriptional level.
EXPERIMENTAL DERMATOLOGY
(2024)
