نتایج جستجو برای: ژن col7a1
تعداد نتایج: 15999 فیلتر نتایج به سال:
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin blistering disorder caused by mutations in the type VII collagen gene (COL7A1). Bonafont et. al. reported an electroporation-based COL7A1 exon 80 deletion strategy for RDEB treatment, which efficiently restored functional (C7) patient keratinocyte cells (RDEBK)ex vivo. Following this strategy, we synthesized an...
وراثت مقاومت سفیدبالک گلخانه، Trialeurodes vaporariorum Westwood (Hemiptera: Aleyrodidae)، به دو ترکیب ایمیداکلوپرید و کلرپایریفوس مورد مطالعه قرار گرفت. در این پژوهش، از جمعیت فیلستان ورامین (FL) عنوان والد مقاوم فردیس کرج (FR) حساس استفاده شد. مقدار ترتیب حدودا 62/13 91/14 برابر بود. عدم وجود اختلاف معنیدار LC50 روی تلاقیهای F1 (R♂×S♀) Fʹ1 (R♀×S♂) نشان داد که T. نوع اتوزومی (غیرجنسی) است. ه...
Recent generation of patient-specific induced pluripotent stem cells (PS-iPSCs) provides significant advantages for cell- and gene-based therapy. Establishment of iPSC-based therapy for skin diseases requires efficient methodology for differentiating iPSCs into both keratinocytes and fibroblasts, the major cellular components of the skin, as well as the reconstruction of skin structures using t...
A 53-year-old male patient was referred for evaluation of recurrent erosions of inguinal and anogenital areas, both lower legs and the oral mucosa. In addition, almost all nails and several teeth were lacking, and the residual teeth showed enamel defects. History revealed congenital absence of skin of large parts of the lower legs and widespread blistering in early childhood. Antigen mapping sh...
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. There are three main categories of EB: simplex, junctional, and dystrophic. This classification is based on the level of tissue separation within the basement membrane zone and this is attributed to abnormalities of individual or several anchoring proteins that form t...
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form...
In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing i...
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form...
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