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26. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Dang N; Klingberg S; Marr P; Murrell DF J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959 [TBL] [Abstract][Full Text] [Related]
27. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. Odorisio T; Di Salvio M; Orecchia A; Di Zenzo G; Piccinni E; Cianfarani F; Travaglione A; Uva P; Bellei B; Conti A; Zambruno G; Castiglia D Hum Mol Genet; 2014 Aug; 23(15):3907-22. PubMed ID: 24599399 [TBL] [Abstract][Full Text] [Related]
28. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. Wong T; Gammon L; Liu L; Mellerio JE; Dopping-Hepenstal PJ; Pacy J; Elia G; Jeffery R; Leigh IM; Navsaria H; McGrath JA J Invest Dermatol; 2008 Sep; 128(9):2179-89. PubMed ID: 18385758 [TBL] [Abstract][Full Text] [Related]
29. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Christiano AM; Greenspan DS; Hoffman GG; Zhang X; Tamai Y; Lin AN; Dietz HC; Hovnanian A; Uitto J Nat Genet; 1993 May; 4(1):62-6. PubMed ID: 8513326 [TBL] [Abstract][Full Text] [Related]
30. Epidermal or Dermal Collagen VII Is Sufficient for Skin Integrity: Insights to Anchoring Fibril Homeostasis. Conradt G; Hausser I; Nyström A J Invest Dermatol; 2024 Jun; 144(6):1301-1310.e7. PubMed ID: 38007090 [TBL] [Abstract][Full Text] [Related]
31. Dystrophic forms of epidermolysis bullosa. Uitto J; Christiano AM Semin Dermatol; 1993 Sep; 12(3):191-201. PubMed ID: 8217558 [TBL] [Abstract][Full Text] [Related]
32. The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa. Rusenko KW; Gammon WR; Fine JD; Briggaman RA J Invest Dermatol; 1989 Apr; 92(4):623-7. PubMed ID: 2649597 [TBL] [Abstract][Full Text] [Related]
33. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Chung HJ; Uitto J Dermatol Clin; 2010 Jan; 28(1):93-105. PubMed ID: 19945621 [TBL] [Abstract][Full Text] [Related]
34. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. Woodley DT; Cogan J; Hou Y; Lyu C; Marinkovich MP; Keene D; Chen M J Clin Invest; 2017 Aug; 127(8):3028-3038. PubMed ID: 28691931 [TBL] [Abstract][Full Text] [Related]
35. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Tamai K; Ishida-Yamamoto A; Matsuo S; Iizuka H; Hashimoto I; Christiano AM; Uitto J; McGrath JA Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157 [TBL] [Abstract][Full Text] [Related]
36. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Christiano AM; Hoffman GG; Zhang X; Xu Y; Tamai Y; Greenspan DS; Uitto J Hum Mutat; 1997; 10(5):408-14. PubMed ID: 9375858 [TBL] [Abstract][Full Text] [Related]
37. A case of pretibial dystrophic epidermolysis bullosa: decreased expression of the non-helical domain of type VII collagen molecule. Horiguchi Y; Leigh IM; Oguchi M; Tanaka T; Imamura S J Dermatol; 1993 Feb; 20(2):79-84. PubMed ID: 8478490 [TBL] [Abstract][Full Text] [Related]
38. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. Murauer EM; Gache Y; Gratz IK; Klausegger A; Muss W; Gruber C; Meneguzzi G; Hintner H; Bauer JW J Invest Dermatol; 2011 Jan; 131(1):74-83. PubMed ID: 20720561 [TBL] [Abstract][Full Text] [Related]
39. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. Watt SA; Dayal JH; Wright S; Riddle M; Pourreyron C; McMillan JR; Kimble RM; Prisco M; Gartner U; Warbrick E; McLean WH; Leigh IM; McGrath JA; Salas-Alanis JC; Tolar J; South AP PLoS One; 2015; 10(9):e0137639. PubMed ID: 26380979 [TBL] [Abstract][Full Text] [Related]
40. Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa. Bruckner-Tuderman L; Mitsuhashi Y; Schnyder UW; Bruckner P J Invest Dermatol; 1989 Jul; 93(1):3-9. PubMed ID: 2746005 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]