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812 Type VII collagen and Nesprin 2, LINCing the basement membrane to altered cell cycle and increased DNA damage
Epidermolysis Bullosa is a severe blistering disease caused by mutations in basement membrane genes and is characterised by severe blistering of the skin and increased predisposition to cancer. To investigate the role of the skin basement membrane, siRNA knockdown of type IV, VII and XVII collagens was performed in primary keratinocytes. Global transcriptomic analysis was carried out using RNA-Seq. Dysregulation of genes involved in DNA damage and cell cycle control was seen in cells with Col7 and Col17 knockdown.
Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: S. Marsh, M.P. Caley, V. Martins, M. Chen, J. McGrath, M. Barnes, E.A. O'Toole Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

192 Loss of keratinocyte type VII collagen induces increased DNA damage in vitro and in vivo
Epidermolysis Bullosa is a severe blistering disease caused by mutations in basement membrane genes and is characterised by severe blistering of the skin and increased predisposition to cancer. To investigate the function of the skin basement membrane, siRNA knockdown of type IV, VII (Col7) and XVII (Col17) collagens was performed in primary neonatal foreskin keratinocytes. Global transcriptomic analysis was carried out using RNA-Seq. Pathway analysis revealed dysregulation of genes involved in DNA damage and cell cycle control in cells with Col7 and Col17 knockdown predicting reduced proliferation of siCol7 cells and incr...
Source: Journal of Investigative Dermatology - September 8, 2017 Category: Dermatology Authors: S. Marsh, M. Caley, V. Martins, M.R. Barnes, M. Chen, E.A. O ’Toole Tags: Genetics and Cell Based Therapy Source Type: research

532 siRNA based non-viral gene therapy for the treatment of epidermolysis bullosa simplex(EBS)
EBS is an inherited, skin fragility disorder predominantly caused by dominant-negative mutations in genes encoding for the cytoskeletal proteins, Keratin5 and Keratin14 within the basal cell layer. To date, EBS is incurable with only symptomatic therapies currently available. The downregulation of these mutant genes would provide an excellent curative therapy for treating EBS. siRNA therapeutics have been identified as an attractive therapy option for EBS given the highly accessible nature of skin tissue.
Source: Journal of Investigative Dermatology - April 12, 2017 Category: Dermatology Authors: J. O'Keeffe Ahern, D. Zhou, L. Cutlar, I. Lara-S áez, W. Wang Tags: Genetic Disease, Gene Regulation and Gene Therapy Source Type: research