Below are the most recent publications written about "Dystonin" by people in Profiles.
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Nanda A, Liu L, Al-Ajmi H, Al-Saleh QA, Al-Fadhli S, Anim JT, Ozoemena L, Mellerio JE, McGrath JA. Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait. Int J Dermatol. 2018 Sep; 57(9):1058-1067.
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Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. Br J Dermatol. 2015 Feb; 172(2):527-31.
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Michael M, Begum R, Fong K, Pourreyrone C, South AP, McGrath JA, Parsons M. BPAG1-e restricts keratinocyte migration through control of adhesion stability. J Invest Dermatol. 2014 Mar; 134(3):773-782.
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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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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.
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Olague-Marchan M, Twining SS, Hacker MK, McGrath JA, Diaz LA, Giudice GJ. A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix. Matrix Biol. 2000 Jul; 19(3):223-33.
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Harman KE, Bhogal BS, Eady RA, McGrath JA, Black MM. Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy. Br J Dermatol. 1999 Sep; 141(3):475-80.
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Mellerio JE, Denyer JE, Atherton DJ, Eady RA, McGrath JA. Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa. Br J Dermatol. 1998 Apr; 138(4):661-6.
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Darling TN, Yee C, Koh B, McGrath JA, Bauer JW, Uitto J, Hintner H, Yancey KB. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1998 Feb; 110(2):165-9.
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Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1997 Apr; 108(4):463-8.