Below are the most recent publications written about "Dystonin" by people in Profiles.
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Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L, Vahidnezhad H, Uitto J. Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). Exp Dermatol. 2022 06; 31(6):949-955.
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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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Aizu T, Tamai K, Nakano H, Rokunohe D, Toyomaki Y, Uitto J, Sawamura D. Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes. J Dermatol Sci. 2008 Jul; 51(1):45-51.
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Kaneko T, Tamai K, Matsuzaki Y, Yamazaki T, Nakano H, Kon A, Hashimoto I, Hanada K, Kaneda Y, Uitto J. Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS. Exp Dermatol. 2006 Apr; 15(4):308-14.
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Odanagi M, Kikuchi Y, Yamazaki T, Kaneko T, Nakano H, Tamai K, Uitto J, Vitto J, Hanada K. Transcriptional regulation of the 230-kDa bullous pemphigoid antigen gene expression by interferon regulatory factor 1 and interferon regulatory factor 2 in normal human epidermal keratinocytes. Exp Dermatol. 2004 Dec; 13(12):773-9.
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Metz BJ, Ruggeri SY, Hsu S, Reed JA, Ghohestani AS, Uitto J, Ghohestani RF. Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype. Int J Dermatol. 2004 Jun; 43(6):443-6.