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A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: murrell df. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 Free PMC article.
A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa.
Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, Melbourne W, Nelson JA, Sturm M, Fogarty J, Marinkovich MP, Igawa S, Ishida-Yamamoto A, Murrell DF. Venugopal SS, et al. Among authors: murrell df. J Am Acad Dermatol. 2013 Dec;69(6):898-908.e7. doi: 10.1016/j.jaad.2013.08.014. Epub 2013 Sep 24. J Am Acad Dermatol. 2013. PMID: 24075228 Clinical Trial.
475 results