| 1 | EBSMD, PLRC
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| Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
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| Yin J, Ren Y, Lin Z, Wang H, Zhou Y, Yang Y.
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| Int J Dermatol nt J Dermatol. 2014 Sep 10. doi: 10.1111/ijd.12655. [Epub ahead of print]
2014
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| 2 | EBSMD, PLEC
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| Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
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| Yin J, Ren Y, Lin Z, Wang H, Zhou Y, Yang Y.
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| Int J Dermatol nt J Dermatol. 2014 Sep 10. doi: 10.1111/ijd.12655. [Epub ahead of print] 2014
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| 3 | EBSMD, PLEC
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| PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
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| Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF.
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| J Invest Dermatol 130(4):1178-81. Epub 2009 Dec 17. No abstract available. PMID: 20016501 2010
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| 4 | 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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| 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 | EBSMD, PLEC
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| Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
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| Schara U, Tucke J, Mortier W, Nusslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schroder R.
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| Eur J Pediatr 163(4-5):218-22. Epub 2004 Feb 13. 2004
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| 7 | 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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| 8 | EBSMD, PLEC
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| Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
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| Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J.
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| J Invest Dermatol 114(2):381-7. 2000
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| 9 | 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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| 10 | 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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| 11 | EBSMD, PLEC
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| Plectin in the human central nervous system : predominant expression at pia/glia and endothelia/glia interfaces.
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| Lie AA, et al.
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| Acta Neuropathol 96 : 215-221. 1998
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| 12 | EBSMD, PLEC
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| Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.
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| Smith FJD, et al.
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| Nat Genet 13 : 450-457. 1996
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| 13 | 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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| 14 | EBSMD, PLEC
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| Loss of plectin causes epidermolysis bullosa with muscular dystrophy : cDNA cloning and genomic organization.
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| McLean WHI, et al.
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| Genes Dev 10 : 1724-1735. 1996
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| 15 | EBSMD, PLEC
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| A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.
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| Chavanas S, et al.
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| J Clin Invest 98 : 2196-2200. 1996
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| 16 | EBSMD, PLEC
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| Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
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| Niemi KM, et al.
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| Arch Dermatol 124 : 551-554. 1988
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