| 1 | EBS1, PLEC
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| Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
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| Bolling MC, Jongbloed JD, Boven LG, Diercks GF, Smith FJ, McLean WH, Jonkman MF.
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| J Invest Dermatol 134(1):273-6. doi: 10.1038/jid.2013.277. Epub 2013 Jun 17. No abstract available.
2014
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| 2 | EBS1, PLEC
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| Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
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| Rezniczek GA, Walko G, Wiche G.
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| Dermatol Clin 28(1):33-41. Review. Erratum in: Dermatol Clin. 2010 Apr;28(2):439-41. PMID: 19945614 2010
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| 3 | EBS1, EBSMD, PLEC
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| Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
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| Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H.
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| Hum Mutat 31(3):308-16.PMID: 20052759 2010
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| 4 | EBS1, PLEC
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| Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.
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| Sawamura D, Goto M, Sakai K, Nakamura H, McMillan JR, Akiyama M, Shirado O, Oyama N, Satoh M, Kaneko F, Takahashi T, Konno H, Shimizu H.
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| J Invest Dermatol 127(6):1537-40. Epub 2007 Feb 1. No abstract available. 2007
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| 5 | COL17A1, EBJ1A, EBJ1B, EBJ1C, EBJ2A, EBJ2B, EBJ2C, EBJ2D, EBJ2E, EBJPAA, EBS1, EBSMD, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2, PLEC
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| Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
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| Varki R, Sadowski S, Pfendner E, Uitto J.
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| J Med Genet 43(8):641-52. Epub 2006 Feb 10. 2006
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| 6 | EBS1, EBSMD, PLEC
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| Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
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| Schroder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A.
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| J Neuropathol Exp Neurol 61(6):520-30. 2002
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| 7 | EBS1, EBSMD, PLEC
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| Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
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| Kunz M, Rouan F, Pulkkinen L, Hamm H, Jeschke R, Bruckner-Tuderman L, Brocker EB, Wiche G, Uitto J, Zillikens D.
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| J Invest Dermatol 114(2):376-80. 2000
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| 8 | EBS1, EBSMD, PLEC
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| Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.
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| Takizawa Y, et al.
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| J Invest Dermatol 112(1):109-12. 1999
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| 9 | EBS1, PLEC
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| Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.
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| Gache Y, et al.
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| J Clin Invest 97 : 2289-2298. 1996
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| 10 | EBS1, EBSMD, PLEC
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| Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.
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| Pulkkinen L, et al.
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| Hum Mol Genet 5 : 1539-1546. 1996
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