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Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA. Lwin SM, et al. Among authors: ozoemena l. JCI Insight. 2019 Jun 6;4(11):e126243. doi: 10.1172/jci.insight.126243. eCollection 2019 Jun 6. JCI Insight. 2019. PMID: 31167965 Free PMC article. Clinical Trial.
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA. Groves RW, et al. Among authors: ozoemena l. J Invest Dermatol. 2010 Jun;130(6):1551-7. doi: 10.1038/jid.2010.19. Epub 2010 Feb 18. J Invest Dermatol. 2010. PMID: 20164846 Free article.
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Rodríguez FA, Gana MJ, Yubero MJ, Zillmann G, Krämer SM, Catalán J, Rubio-Astudillo J, González S, Liu L, Ozoemena L, Mellerio JE, McGrath JA, Palisson F, Conget P. Rodríguez FA, et al. Among authors: ozoemena l. J Dermatol Sci. 2012 Feb;65(2):149-52. doi: 10.1016/j.jdermsci.2011.11.010. Epub 2011 Dec 13. J Dermatol Sci. 2012. PMID: 22209565 No abstract available.
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C. Szczecinska W, et al. Among authors: ozoemena l. Br J Dermatol. 2014 Nov;171(5):1206-10. doi: 10.1111/bjd.12964. Epub 2014 Oct 20. Br J Dermatol. 2014. PMID: 24628291
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Among authors: ozoemena l. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.
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