| 1 | 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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| 2 | 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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| 3 | PLEC, SH3GLB2
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| The Bin/amphiphysin/Rvs (BAR) domain protein endophilin B2 interacts with plectin and controls perinuclear cytoskeletal architecture.
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| Vannier C, Pesty A, San-Roman MJ, Schmidt AA.
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| J Biol Chem 288(38):27619-37. doi: 10.1074/jbc.M113.485482. Epub 2013 Aug 6.
2013
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| 4 | PLEC, SYNE3
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| Nesprin-3 connects plectin and vimentin to the nuclear envelope of Sertoli cells but is not required for Sertoli cell function in spermatogenesis.
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| Ketema M, Kreft M, Secades P, Janssen H, Sonnenberg A.
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| Mol Biol Cell 24(15):2454-66. doi: 10.1091/mbc.E13-02-0100. Epub 2013 Jun 12.
2013
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| 5 | PLEC
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| Interaction of plectin and intermediate filaments.
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| Karashima T, Tsuruta D, Hamada T, Ishii N, Ono F, Hashikawa K, Ohyama B, Natsuaki Y, Fukuda S, Koga H, Sogame R, Nakama T, Dainichi T, Hashimoto T.
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| J Dermatol Sci 66(1):44-50. doi: 10.1016/j.jdermsci.2012.01.008. Epub 2012 Jan 24.
2012
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| 6 | FUS, PLEC
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| Fused in sarcoma (FUS) interacts with the cytolinker protein plectin: implications for FUS subcellular localization and function.
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| Thomsen C, Udhane S, Runnberg R, Wiche G, Stċhlberg A, Aman P.
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| Exp Cell Res 318(5):653-61. doi: 10.1016/j.yexcr.2011.12.019. Epub 2012 Jan 4.
2012
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| 7 | PLEC
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| Plectin deficiency on cytoskeletal disorganization and transformation of human liver cells in vitro.
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| Liu YH, Cheng CC, Ho CC, Chao WT, Pei RJ, Hsu YH, Ho LC, Shiu BH, Lai YS.
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| Med Mol Morphol 44(1):21-6. doi: 10.1007/s00795-010-0499-y.
2011
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| 8 | PLEC
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| The structure of the plakin domain of plectin reveals a non-canonical SH3 domain interacting with its fourth spectrin repeat.
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| Ortega E, Buey RM, Sonnenberg A, de Pereda JM.
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| J Biol Chem 286(14):12429-38. doi: 10.1074/jbc.M110.197467. Epub 2011 Feb 1.
2011
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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | LGMD2Q, PLEC
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| Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
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| Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P.
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| Am J Hum Genet 87(6):834-41. Epub 2010 Nov 25.PMID: 21109228 2010
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| 13 | BRCA2, PLEC
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| BRCA2 interacts with the cytoskeletal linker protein plectin to form a complex controlling centrosome localization.
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| Niwa T, Saito H, Imajoh-ohmi S, Kaminishi M, Seto Y, Miki Y, Nakanishi A.
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| Cancer Sci 100(11):2115-25. Epub 2009 Jul 8.PMID: 19709076 2009
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| 14 | PLEC
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| Plectin contributes to mechanical properties of living cells.
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| Na S, Chowdhury F, Tay B, Ouyang M, Gregor M, Wang Y, Wiche G, Wang N.
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| Am J Physiol Cell Physiol 296(4):C868-77. Epub 2009 Feb 25.PMID: 19244477 2009
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| 15 | PLEC
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| 5' trans-splicing repair of the PLEC1 gene.
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| Wally V, Klausegger A, Koller U, Lochmüller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW.
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| J Invest Dermatol 128(3):568-74. Epub 2007 Nov 8.PMID: 17989727 2008
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| 16 | PLEC
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| Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape.
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| Winter L, Abrahamsberg C, Wiche G.
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| J Cell Biol 181(6):903-11. Epub 2008 Jun 9.PMID: 18541706 2008
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| 17 | CXCR4, PLEC
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| Plectin regulates the signaling and trafficking of the HIV-1 co-receptor CXCR4 and plays a role in HIV-1 infection.
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| Ding Y, Zhang L, Goodwin JS, Wang Z, Liu B, Zhang J, Fan GH.
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| Exp Cell Res 314(3):590-602. Epub 2007 Nov 17.PMID: 18155192 2008
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| 18 | 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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| 19 | PLEC
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| Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.
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| Rezniczek GA, Konieczny P, Nikolic B, Reipert S, Schneller D, Abrahamsberg C, Davies KE, Winder SJ, Wiche G.
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| J Cell Biol 176(7):965-77.PMID: 17389230 2007
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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | 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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| 27 | PLEC
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| Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms.
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| Elliott CE, Becker B, Oehler S, Castanon MJ, Hauptmann R, Wiche G.
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| Genomics 42(1):115-25. 1997
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| 28 | DSP, DST, EVPL, PLEC, PPL
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| The plakin family: versatile organizers of cytoskeletal architecture.
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| Ruhrberg C, Watt FM.
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| Curr Opin Genet Dev 7(3):392-7. 1997
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| 29 | PLEC
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| Human plectin : organization of the gene, sequence analysis, and chromosome localization (8q24).
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| Liu CG, et al.
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| Proc Natl Acad Sci U S A 93 : 4278-4283. 1996
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| 30 | 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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| 31 | EBSMD, PLEC
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| Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.
|
| Smith FJD, et al.
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| Nat Genet 13 : 450-457. 1996
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| 32 | 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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| 33 | 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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| 34 | 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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| 35 | EBSMD, PLEC
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| Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
|
| Niemi KM, et al.
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| Arch Dermatol 124 : 551-554. 1988
|