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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. Cho RJ, et al. Sci Transl Med. 2018 Aug 22;10(455):eaas9668. doi: 10.1126/scitranslmed.aas9668. Sci Transl Med. 2018. PMID: 30135250
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Atanasova VS, et al. J Invest Dermatol. 2017 Sep;137(9):1842-1849. doi: 10.1016/j.jid.2017.05.011. Epub 2017 May 24. J Invest Dermatol. 2017. PMID: 28549954 Free PMC article. Review.
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Pourreyron C, et al. J Invest Dermatol. 2007 Oct;127(10):2438-44. doi: 10.1038/sj.jid.5700878. Epub 2007 May 10. J Invest Dermatol. 2007. PMID: 17495952 Free article.
Animal models of epidermolysis bullosa: update 2010.
Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Bruckner-Tuderman L, et al. J Invest Dermatol. 2010 Jun;130(6):1485-8. doi: 10.1038/jid.2010.75. J Invest Dermatol. 2010. PMID: 20463671 Free article. No abstract available.
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
Laminin 332 in junctional epidermolysis bullosa.
Kiritsi D, Has C, Bruckner-Tuderman L. Kiritsi D, et al. Cell Adh Migr. 2013 Jan-Feb;7(1):135-41. doi: 10.4161/cam.22418. Epub 2012 Oct 17. Cell Adh Migr. 2013. PMID: 23076207 Free PMC article. Review.
393 results