کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10157708 1666475 2018 54 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone
ترجمه فارسی عنوان
اپیدرمولیز بیولس: پاتولوژی مولکولی اجزای بافت همبند در ناحیه غشاء زیر جلدی پوست
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی
Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB. This overview highlights the molecular genetics of EB based on mutations in the genes encoding type VII and XVII collagens as well as laminin-332. The mutations identified in these protein components of the extracellular matrix attest to their critical importance in providing stability to the cutaneous basement membrane zone, with implications for heritable and acquired diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Matrix Biology - Volumes 71–72, October 2018, Pages 313-329
نویسندگان
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