Highly efficient CRISPR/Cas9‐mediated exon skipping for recessive dystrophic epidermolysis bullosa

Autor: Alex du Rand, John Hunt, Christopher Samson, Evert Loef, Chloe Malhi, Sarah Meidinger, Chun‐Jen Jennifer Chen, Ashley Nutsford, John Taylor, Rod Dunbar, Diana Purvis, Vaughan Feisst, Hilary Sheppard

Publikováno v: Bioengineering & Translational Medicine, Vol 9, Iss 4, Pp n/a-n/a (2024)

Abstract Gene therapy based on the CRISPR/Cas9 system has emerged as a promising strategy for treating the monogenic fragile skin disorder recessive dystrophic epidermolysis bullosa (RDEB). With this approach problematic wounds could be grafted with

Externí odkaz: https://doaj.org/article/9308479efb334e27a2c50270e92fd7fe

Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines

Autor: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum, Julio Tanabe

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-specific research limits these s

Externí odkaz: https://doaj.org/article/978fecef46f2486b9d9a7ed4550d1735

Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand

Autor: Russell Gear, Gemma Poke, Katherine Neas, Jacqui Finnigan, Sharon Cassidy, Deanna Forsyth, Mo Blishen, Diana Purvis

Publikováno v: Australasian Journal of Dermatology. 63:62-67

To establish the epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa (EB) in New Zealand (NZ).Participants were recruited through the Dystrophic Epidermolysis Bullosa Research Association of New Zealand (DEBRA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c041fcaac4f58be53f2ee900c5931df
https://doi.org/10.1111/ajd.13762

Chanarin-Dorfman Syndrome - A Neutral Lipid Storage Disease with Ichthyosis and Liver Cirrhosis

Autor: Vivek Rajasekaran, Jeannette McFarlane, Diana Purvis, Timothy Prestidge, Helen Evans

Publikováno v: Journal of pediatric gastroenterology and nutrition.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeac617ab7803c268134339c172bc1b6
https://pubmed.ncbi.nlm.nih.gov/36417465

Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts

Autor: Christine Bodemer, Irene Lara-Corrales, Heather I Rishel, Mohammadreza Barzegar, Jean Y. Tang, John C Su, Mae N. Ramirez-Quizon, Johannes Bauer, Amy S. Paller, Cristina Has, Jemima E. Mellerio, Leena Bruckner-Tuderman, Anna E. Martinez, Eli Sprecher, Jouni Uitto, Julio C. Salas-Alanis, Alain Hovnanian, Francis Palisson, Dedee F. Murrell, David T. Woodley, Asli Bilgic, Karen Wiss, M. Peter Marinkovich, Phuong Khuu, Slobodna Murat-Sušić, Lawrence F. Eichenfield, Cezary Kowaleski, Susan J. Robertson, Sang Eun Lee, Joyce M.C. Teng, Johannes S. Kern, Diana Purvis, Milos Nikolic, Mette Sommerlund, Martin Laimer, Linda K. Martin, Tor Chiu, Ken Natsuga, Anna L. Bruckner, Anne W. Lucky, Mark Jean Aan Koh, Elena Pope, Arti Nanda, Chao Kai Hsu

Publikováno v: Murrell, D F, Lucky, A W, Salas-Alanis, J C, Woodley, D T, Palisson, F, Natsuga, K, Nikolic, M, Ramirez-Quizon, M, Paller, A S, Lara-Corrales, I, Barzegar, M A, Sprecher, E, Has, C, Laimer, M, Bruckner, A L, Bilgic, A, Nanda, A, Purvis, D, Hovnanian, A, Murat-Sušić, S, Bauer, J, Kern, J S, Bodemer, C, Martin, L K, Mellerio, J, Kowaleski, C, Robertson, S J, Bruckner-Tuderman, L, Pope, E, Marinkovich, M P, Tang, J Y, Su, J, Uitto, J, Eichenfield, L F, Teng, J, Aan Koh, M J, Lee, S E, Khuu, P, Rishel, H I, Sommerlund, M, Wiss, K, Hsu, C K, Chiu, T W & Martinez, A E 2020, ' Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus : Recommendations by an international panel of experts ', Journal of the American Academy of Dermatology, vol. 83, no. 4, pp. 1222-1224 . https://doi.org/10.1016/j.jaad.2020.06.1023
Journal of the American Academy of Dermatology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1010b5d998d0f6075795bf2fe8690e42
https://doi.org/10.1016/j.jaad.2020.06.1023