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• W2022990395 abstract "Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterized by fragility, blistering and abnormal scarring of the skin and mucous membranes, showing different degree of cutaneous and extracutaneous involvement. Several variants have been described [ 1 Anton-Lamprecht I. Gedde-Dahl Jr., T. Epidermolysis bullosa. in: Rimoin D.L. Connor J.M. Pyeritz R.E. Korf B.R. Principles and practice of medical genetics. Churchill Livingstone, London2002: 3810-3897 Google Scholar , 2 Fine J.D. Eady R.A. Bauer E.A. Bauer J.W. Bruckner-Tuderman L. Heagerty A. et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008; 58: 931-950 Abstract Full Text Full Text PDF PubMed Scopus (702) Google Scholar ], due to dominant (DDEB) or recessive (RDEB) mutations in COL7A1 gene encoding for pro-α1 (VII) collagen chain [ 1 Anton-Lamprecht I. Gedde-Dahl Jr., T. Epidermolysis bullosa. in: Rimoin D.L. Connor J.M. Pyeritz R.E. Korf B.R. Principles and practice of medical genetics. Churchill Livingstone, London2002: 3810-3897 Google Scholar , 2 Fine J.D. Eady R.A. Bauer E.A. Bauer J.W. Bruckner-Tuderman L. Heagerty A. et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008; 58: 931-950 Abstract Full Text Full Text PDF PubMed Scopus (702) Google Scholar ]. Three identical pro-α1 (VII) chains, consisting of a central collagenous domain, and two flanking amino- and carboxy-terminal noncollagenous domains (NC1 and NC2, respectively), assemble into type VII collagen homotrimers (COLLVII), which aggregate to form anchoring fibrils (AF). These structures ensure the dermal–epidermal adhesion [ [1] Anton-Lamprecht I. Gedde-Dahl Jr., T. Epidermolysis bullosa. in: Rimoin D.L. Connor J.M. Pyeritz R.E. Korf B.R. Principles and practice of medical genetics. Churchill Livingstone, London2002: 3810-3897 Google Scholar ]. The NC1 globular domain, pointing outwards the AF, is composed by several subdomains with homology to adhesive proteins: a segment with a 40% homology to cartilage matrix protein (CMP), nine consecutive fibronectin type III-like repeats, and a von Willebrand factor motif [ [3] Chen M. O’Toole E.A. Li Y.Y. Woodley D.T. Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain. Exp Cell Res. 1999; 249: 231-239 Crossref PubMed Scopus (29) Google Scholar ]. All these modules may exert an important role in the attachment of COLLVII to other proteins of the dermal–epidermal junction (DEJ)." @default.
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• W2022990395 title "The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa" @default.
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• W2022990395 doi "https://doi.org/10.1016/j.jdermsci.2008.09.005" @default.
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