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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.
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Fine JD, et al. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29. J Am Acad Dermatol. 2014. PMID: 24690439 Review.
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. Fine JD, et al. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18. J Am Acad Dermatol. 2008. PMID: 18374450
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
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE. Has C, et al. Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11. Br J Dermatol. 2020. PMID: 32017015 Review.
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
393 results