Zobrazeno 1 - 10
of 737
pro vyhledávání: '"Recessive dystrophic epidermolysis bullosa"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have primarily been described
Externí odkaz:
https://doaj.org/article/64f39d56a71f4cad83d2160f67236646
Autor:
Grace Tartaglia, Ignacia Fuentes, Neil Patel, Abigail Varughese, Lauren E Israel, Pyung Hun Park, Michael H Alexander, Shiv Poojan, Qingqing Cao, Brenda Solomon, Zachary M Padron, Jonathan A Dyer, Jemima E Mellerio, John A McGrath, Francis Palisson, Julio Salas-Alanis, Lin Han, Andrew P South
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 4, Pp 870-884 (2024)
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered de
Externí odkaz:
https://doaj.org/article/68b1c43ece124fbe9f6ab1f212aefc96
Publikováno v:
Journal of Dermatological Treatment, Vol 35, Iss 1 (2024)
Background: The ability of mesenchymal stromal cells (MSCs) to facilitate regenerative responses in inflamed and injured tissues, coupled with preclinical data suggesting potential to restore defective collagen VII at the dermo-epidermal junction, ha
Externí odkaz:
https://doaj.org/article/efb7b29873f44fc58aad2d306a78a086
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
Autor:
Farzad Alipour, Mana Ahmadraji, Elham Yektadoost, Parvaneh Mohammadi, Hossein Baharvand, Mohsen Basiri
Publikováno v:
Cell Journal, Vol 25, Iss 10, Pp 665-673 (2023)
Objective: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility and ultimately lethal blisteringdisease caused by mutations in the COL7A1 gene which is responsible for coding type VII collagen. Investigating thepathological m
Externí odkaz:
https://doaj.org/article/cfd06def759946b0afbbd2684fc2e58c
Autor:
Xianqing Wang, Xi Wang, Yinghao Li, Sigen A, Bei Qiu, Albina Bushmalyova, Zhonglei He, Wenxin Wang, Irene Lara-Sáez
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101134- (2023)
Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal monogenic skin disease caused by mutations in COL7A1 gene and lack of functional type VII collagen (C7). Currently, there is no cure for RDEB, and most of the gene therapies under deve
Externí odkaz:
https://doaj.org/article/fdffa5daa70b4aae8e604aaddd448d61
Autor:
Cristian De Gregorio, Evelyng Catalán, Gabriel Garrido, Pilar Morandé, Jimena Castillo Bennett, Catalina Muñoz, Glenda Cofré, Ya-Lin Huang, Bárbara Cuadra, Paola Murgas, Margarita Calvo, Fernando Altermatt, María Joao Yubero, Francis Palisson, Andrew P. South, Marcelo Ezquer, Ignacia Fuentes
Publikováno v:
Biological Research, Vol 56, Iss 1, Pp 1-16 (2023)
Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare inherited skin disease caused by variants in the COL7A1 gene, coding for type VII collagen (C7), an important component of anchoring fibrils in the basement membrane of t
Externí odkaz:
https://doaj.org/article/a8dd191f66034a75a30a05ba91bc6a46
Autor:
Carmen Liy-Wong, Cristina Tarango, Elena Pope, Thomas Coates, Anna L. Bruckner, James A. Feinstein, Agnes Schwieger-Briel, Lynne D. Hubbard, Clapham Jane, Mauricio Torres-Pradilla, Matija Zmazek, Irene Lara-Corrales
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to presen
Externí odkaz:
https://doaj.org/article/d7872966dc354c4d80337276d308930c
Autor:
Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang, Albert S. Chiou
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and inte
Externí odkaz:
https://doaj.org/article/a959db06942649538593eea193c20f13
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