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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H. Forrest K, et al. Among authors: dopping hepenstal pj. Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10. Neuromuscul Disord. 2010. PMID: 20624679
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. 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.
Autosomal dominant junctional epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA. Almaani N, et al. Br J Dermatol. 2009 May;160(5):1094-7. doi: 10.1111/j.1365-2133.2008.08977.x. Epub 2009 Dec 16. Br J Dermatol. 2009. PMID: 19120338
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, Fong K, Lai-Cheong JE, Mellerio JE, Parsons M, McGrath JA. Liu L, et al. Among authors: dopping hepenstal pj. J Invest Dermatol. 2012 Mar;132(3 Pt 1):742-4. doi: 10.1038/jid.2011.379. Epub 2011 Nov 24. J Invest Dermatol. 2012. PMID: 22113475 Free article. No abstract available.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. Has C, et al. Among authors: dopping hepenstal pj. J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4. J Invest Dermatol. 2014. PMID: 24005051 Free article. No abstract available.
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: dopping hepenstal pj. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014
44 results