Below are the most recent publications written about "Plectin" by people in Profiles.
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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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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.
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Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol. 2005 Aug; 125(2):239-43.
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Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005 Jan; 124(1):111-5.
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Takahashi Y, Rouan F, Uitto J, Ishida-Yamamoto A, Iizuka H, Owaribe K, Tanigawa M, Ishii N, Yasumoto S, Hashimoto T. Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. J Dermatol Sci. 2005 Feb; 37(2):87-93.
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Aho S, Li K, Ryoo Y, McGee C, Ishida-Yamamoto A, Uitto J, Klement JF. Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development. Mol Cell Biol. 2004 Jul; 24(14):6410-8.
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Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr. 2004 Apr; 163(4-5):218-22.
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Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002 Jun; 61(6):520-30.