Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012
| Autor: | Jouni Uitto, E. Clare Robinson, Leena Bruckner-Tuderman, John A. McGrath |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
VII COLLAGEN SKIN FRAGILITY PROTEIN Dermatology Preimplantation genetic diagnosis Chronic ulcers Biochemistry Kindler syndrome Skin fragility Molecular genetics medicine KINDLER-SYNDROME Molecular Biology International research business.industry MUTATIONS TRANSPLANTATION KERATINOCYTES GENE-THERAPY Cell Biology medicine.disease Transplantation Immunology Epidermolysis bullosa SQUAMOUS-CELL CARCINOMA business PLURIPOTENT STEM-CELLS |
| Zdroj: | Bruckner-Tuderman, L, McGrath, J A, Robinson, E C & Uitto, J 2013, ' Progress in Epidermolysis Bullosa Research : Summary of DEBRA International Research Conference 2012 ', Journal of Investigative Dermatology, vol. 133, no. 9, N/A, pp. 2121-2126 . https://doi.org/10.1038/jid.2013.127 |
| ISSN: | 0022-202X |
| DOI: | 10.1038/jid.2013.127 |
| Popis: | Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions, and chronic ulcers of the skin and mucous membranes, associated with extracutaneous manifestations with considerable morbidity and mortality. Mutations in as many as 18 distinct genes are known to underlie different EB-like disorders. The progress in molecular genetics of this group of disorders has improved the accuracy of diagnostic subclassification and prognostication, and has formed the basis for prenatal and preimplantation genetic diagnosis. Quite recently, inroads have also been made toward the treatment of EB by gene therapy, protein replacement, and cell-based approaches. DEBRA International, the premiere patient-advocacy organization, sponsored the Triennial Research Conference in November 2012 in Marbella, Spain*. This Conference Report summarizes the presentations and discussions of this meeting, with emphasis on the most recent progress in EB research over the past 3 years. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|