Below are the most recent publications written about "Epidermolysis Bullosa Simplex" by people in Profiles.
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Lin YC, Tu WT, Hou PC, Huang HY, Chen PC, Chang CH, Lee JY, McGrath JA, Hsu CK. Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies. J Dermatol. 2022 08; 49(8):e283-e284.
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Bare Y, Chan GK, Hayday T, McGrath JA, Parsons M. Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. J Invest Dermatol. 2021 03; 141(3):523-532.e2.
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Tu WT, Chen PC, Hou PC, Huang HY, Wang JY, Chao SC, Lee JY, McGrath JA, Natsuga K, Hsu CK. Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex. Acta Derm Venereol. 2020 Aug 18; 100(15):adv00242.
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Lee JYW, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa?Simplex. J Invest Dermatol. 2017 06; 137(6):1378-1380.
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Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C. The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. J Invest Dermatol. 2016 Mar; 136(3):719-721.
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Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. Int J Dermatol. 2015 Oct; 54(10):e416-23.
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Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, Fong K, Lai-Cheong JE, Mellerio JE, Parsons M, McGrath JA. Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. J Invest Dermatol. 2012 Mar; 132(3 Pt 1):742-4.
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Trufant JW, Kreizenbeck GM, Carlson KR, Muthusamy V, Girardi M, Bosenberg MW. A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. J Cutan Pathol. 2010 Nov; 37(11):1155-60.
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Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord. 2010 Nov; 20(11):709-11.
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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. 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. J Invest Dermatol. 2010 Jun; 130(6):1551-7.