| 1 | CSF3R, DSP, LAMA3
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| Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
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| Deng Y, Li Z, Liu J, Wang Z, Cao Y, Mou Y, Fu B, Mo B, Wei J, Cheng Z, Luo L, Li J, Shu Y, Wang X, Luo G, Yang S, Wang Y, Zhu J, Yang J, Wu M, Xu X, Ge R, Chen X, Peng Q, Wei G, Li Y, Yang H, Fang S, Zhang X, Xiong W.
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| Hum Mutat 39(9):1238-1245. doi: 10.1002/humu.23566. Epub 2018 Jun 29.
2018
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| 2 | DSC3, DSP, JUP, SOX30
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| SOX30 is a key regulator of desmosomal gene suppressing tumor growth and metastasis in lung adenocarcinoma.
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| Hao X, Han F, Ma B, Zhang N, Chen H, Jiang X, Yin L, Liu W, Ao L, Cao J, Liu J.
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| J Exp Clin Cancer Res 37(1):111. doi: 10.1186/s13046-018-0778-3.
2018
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| 3 | DSP
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| The desmoplakin/intermediate filament linkage regulates cell mechanics.
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| Broussard JA, Yang R, Huang C, Nathamgari SSP, Beese AM, Godsel LM, Hegazy MH, Lee S, Zhou F, Sniadecki NJ, Green KJ, Espinosa HD.
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| Mol Biol Cell ol Biol Cell. 2017 May 11. pii: mbc.E16-07-0520. doi: 10.1091/mbc.E16-07-0520. [Epub ahead of print]
2017
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| 4 | DCWHK, DSP
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| Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
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| Finsterer J, Stöllberger C, Wollmann E, Dertinger S, Laccone F.
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| Mol Genet Metab Rep 8:1-3. doi: 10.1016/j.ymgmr.2016.05.005. eCollection 2016 Sep.
2016
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| 5 | DSP
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| Claws, Disorder, and Conformational Dynamics of the C-Terminal Region of Human Desmoplakin.
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| McAnany CE, Mura C.
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| J Phys Chem B 120(33):8654-67. doi: 10.1021/acs.jpcb.6b03261. Epub 2016 Jun 3.
2016
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| 6 | DSP
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| Structure of the Intermediate Filament-Binding Region of Desmoplakin.
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| Kang H, Weiss TM, Bang I, Weis WI, Choi HJ.
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| PLoS One 11(1):e0147641. doi: 10.1371/journal.pone.0147641. eCollection 2016.
2016
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| 7 | DSP
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| Purification and Structural Analysis of Desmoplakin.
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| Choi HJ, Weis WI.
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| Methods Enzymol 569:197-213. doi: 10.1016/bs.mie.2015.05.006. Epub 2015 May 30.
2016
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| 8 | DSP
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| Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis.
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| Mathai SK, Pedersen BS, Smith K, Russell P, Schwarz MI, Brown KK, Steele MP, Loyd JE, Crapo JD, Silverman EK, Nickerson D, Fingerlin TE, Yang IV, Schwartz DA.
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| Am J Respir Crit Care Med 193(10):1151-60. doi: 10.1164/rccm.201509-1863OC.
2016
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| 9 | DCWHK, DSP
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| Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
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| Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA.
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| Hum Mol Genet 25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24.
2016
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| 10 | CDH2, DSP
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| Desmoplakin is involved in organization of an adhesion complex in peripheral nerve regeneration after injury.
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| Gess B, Röhr D, Lange E, Halfter H, Young P.
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| Exp Neurol 264:55-66. doi: 10.1016/j.expneurol.2014.12.005. Epub 2014 Dec 11.
2015
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| 11 | DSP, GSK3A, PRMT1
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| GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
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| Albrecht LV, Zhang L, Shabanowitz J, Purevjav E, Towbin JA, Hunt DF, Green KJ.
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| J Cell Biol 208(5):597-612. doi: 10.1083/jcb.201406020.
2015
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| 12 | DSP, MAPRE1
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| Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
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| Patel DM, Dubash AD, Kreitzer G, Green KJ.
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| J Cell Biol 206(6):779-97. doi: 10.1083/jcb.201312110.
2014
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| 13 | ARVD8, DSP
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| Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.
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| Campuzano O, Alcalde M, Berne P, Zorio E, Iglesias A, Navarro-Manchón J, Brugada J, Brugada R.
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| Eur J Med Genet 56(10):541-5. doi: 10.1016/j.ejmg.2013.08.001. Epub 2013 Aug 14.
2013
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| 14 | DSP
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| Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL‑1 cardiomyocytes.
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| Zhang Q, Deng C, Rao F, Modi RM, Zhu J, Liu X, Mai L, Tan H, Yu X, Lin Q, Xiao D, Kuang S, Wu S.
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| Mol Med Rep 8(3):780-6. doi: 10.3892/mmr.2013.1594. Epub 2013 Jul 18.
2013
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| 15 | DSP
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| Keratins control intercellular adhesion involving PKC-α-mediated desmoplakin phosphorylation.
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| Kröger C, Loschke F, Schwarz N, Windoffer R, Leube RE, Magin TM.
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| J Cell Biol 201(5):681-92. doi: 10.1083/jcb.201208162. Epub 2013 May 20.
2013
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| 16 | DSP
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| Structure, function, and regulation of desmosomes.
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| Kowalczyk AP, Green KJ.
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| Prog Mol Biol Transl Sci 116:95-118. doi: 10.1016/B978-0-12-394311-8.00005-4. Review.
2013
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| 17 | DSP
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| Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
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| Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Sørensen KE, Baandrup UT, Bross P, Mogensen J.
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| Clin Genet 84(1):20-30. doi: 10.1111/cge.12056. Epub 2012 Dec 3.
2013
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| 18 | DSP
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| Desmoplakin regulates desmosome hyperadhesion.
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| Hobbs RP, Green KJ.
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| J Invest Dermatol 132(2):482-5. doi: 10.1038/jid.2011.318. Epub 2011 Oct 13. No abstract available.
2012
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| 19 | BCL11B, DSP
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| A dual function of Bcl11b/Ctip2 in hippocampal neurogenesis.
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| Simon R, Brylka H, Schwegler H, Venkataramanappa S, Andratschke J, Wiegreffe C, Liu P, Fuchs E, Jenkins NA, Copeland NG, Birchmeier C, Britsch S.
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| EMBO J 31(13):2922-36. doi: 10.1038/emboj.2012.142. Epub 2012 May 15.
2012
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| 20 | DSP
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| Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/β-catenin signaling pathway in human lung cancer.
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| Yang L, Chen Y, Cui T, Knösel T, Zhang Q, Albring KF, Huber O, Petersen I.
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| Carcinogenesis 33(10):1863-70. doi: 10.1093/carcin/bgs226. Epub 2012 Jul 12.
2012
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| 21 | DCWHK, DSP
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| Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
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| Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B.
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| Clin Genet 80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22.
2011
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| 22 | DSP
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| Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cells.
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| Wang X, Nath A, Yang X, Portis A, Walton SP, Chan C.
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| PLoS One 6(11):e28138. Epub 2011 Nov 23.
2011
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| 23 | DCWHK, DSP
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| Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
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| Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J.
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| Clin Res Cardiol 100(12):1087-93. Epub 2011 Jul 26.
2011
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| 24 | DSP
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| Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain.
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| Choi HJ, Weis WI.
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| J Mol Biol 409(5):800-12. Epub 2011 Apr 22.
2011
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| 25 | DSP, FXR1, TLN2
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| Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle.
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| Whitman SA, Cover C, Yu L, Nelson DL, Zarnescu DC, Gregorio CC.
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| Circ Res 109(3):262-71. Epub 2011 Jun 9. 2011
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| 26 | ARVD10, ARVD8, ARVD9, ARVDPPK, DSC2, DSG2, DSP, JUP, PKP
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| Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
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| Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.
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| J Med Genet 47(11):736-44. Epub 2010 Sep 23.
2010
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| 27 | DSP, PKP2
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| Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly.
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| Bass-Zubek AE, Hobbs RP, Amargo EV, Garcia NJ, Hsieh SN, Chen X, Wahl JK 3rd, Denning MF, Green KJ.
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| J Cell Biol 181(4):605-13. Epub 2008 May 12.PMID: 18474624 2008
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| 28 | DSP
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| Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference.
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| Wan H, South AP, Hart IR.
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| Exp Cell Res 313(11):2336-44. Epub 2007 Jan 30. 2007
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| 29 | DSP, ARVD8
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| Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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| Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA.
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| Circ Res 99(6):646-55. Epub 2006 Aug 17. 2006
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| 30 | DSP, PKP1
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| Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly.
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| Sobolik-Delmaire T, Katafiasz D, Wahl JK 3rd.
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| J Biol Chem 281(25):16962-70. Epub 2006 Apr 21.
2006
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| 31 | DSP, EBSLA
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| Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.
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| Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH.
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| Am J Hum Genet 77(4):653-60. Epub 2005 Aug 17. 2005
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| 32 | DSP, DCWHK
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| A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
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| Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T.
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| J Am Coll Cardiol 42(2):319-27. 2003
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| 33 | ARVD8, DSP
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| Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
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| Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA.
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| Am J Hum Genet 71(5):1200-6. Epub 2002 Oct 08. 2002
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| 34 | DSP, DCWHK
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| Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
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| Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.
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| Hum Mol Genet 9(18):2761-6. 2000
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| 35 | DSP, PPKS2
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| Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
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| Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE.
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| Hum Mol Genet 8 : 143-148. 1999
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| 36 | DSP, DST, EVPL, PLEC, PPL
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| The plakin family: versatile organizers of cytoskeletal architecture.
|
| Ruhrberg C, Watt FM.
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| Curr Opin Genet Dev 7(3):392-7. 1997
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| 37 | DSP
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| Structure of desmoplakin and its association with intermediate filaments.
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| Green KJ, et al.
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| J Dermatol 19 : 765-769. 1992
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| 38 | DSC2, DSC3, DSG1, DSP, JUP
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| Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).
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| Arnemann J, et al.
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| Genomics 10 : 640-645. 1991
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| 39 | DSP, DST
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| Structure of the human desmoplakins. Implications for function in the desmosomal plaque.
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| Green KJ, et al.
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| J Biol Chem 265 : 2603-2612. 1990
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