نتایج جستجو برای: ژن col7a1
تعداد نتایج: 15999 فیلتر نتایج به سال:
Recessive dystrophic epidermolysis bullosa (RDEB) is a currently incurable blistering genodermatosis caused by mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils. Adenine base editors (ABEs) are class gene editor which can install A-T to G-C pair changes and therefore hold promise for reversing pathogenic variants. Patient-derived fibroblasts harboring...
1Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain; 2Department of Biomedical Engineering, Carlos III University (UC3M), Madrid, Spain; 3Institute of Pathology, Universitätsklinikum Heidelberg, Heidelberg, Germany; 4Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain; 5Centro de Investigaci...
Patients with the genetic skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneous squamous cell carcinoma (cSCC). Metastasis leading tomortality is greater in RDEB than in other patient groups with cSCC. Here we investigate the dermal component in RDEB using mRNA expression profiling to compare cultured fibroblasts isolated from individuals without...
Recessive dystrophic epidermolysis bullosa (RDEB) is an intractable skin genetic disease characterized by the fragility leading to recurrent blistering. The mutations in COL7A1 gene, encoding type VII collagen (C7) that forms anchoring fibrils, cause RDEB. RDEB patients are known show variable prognosis, likely influenced position of pathogenic mutations. However, as gene distribute across with...
There is a widespread agreement from patient and professional organisations alike that the safety of stem cell therapeutics is of paramount importance, particularly for ex vivo autologous gene therapy. Yet current technology makes it difficult to thoroughly evaluate the behaviour of genetically corrected stem cells before they are transplanted. To address this, we have developed a strategy that...
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