Below are the most recent publications written about "Desmoplakins" 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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Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP. Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP. Br J Dermatol. 2016 Sep; 175(3):644-6.
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McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol. 2015 Nov; 136(5):1268-76.
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Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses. Br J Dermatol. 2012 Jan; 166(1):36-45.
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Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010 Jun; 130(6):1543-50.
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McGrath JA, Bolling MC, Jonkman MF. Lethal acantholytic epidermolysis bullosa. Dermatol Clin. 2010 Jan; 28(1):131-5.
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Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010 Apr; 130(4):968-78.
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Tanaka A, Lai-Cheong JE, Caf? ME, Gontijo B, Salom?o PR, Pereira L, McGrath JA. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol. 2009 Mar; 160(3):692-7.
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McGrath JA, Wessagowit V. Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med. 2005 Jun; 54(2):72-9.
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Lai Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol. 2005 May; 30(3):261-6.