Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa
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| Published in | Journal of investigative dermatology Vol. 130; no. 11; pp. 2680 - 2683 |
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| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York, NY
Elsevier Inc
01.11.2010
Nature Publishing Group Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
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| Author | Getsios, Spiro Jongbloed, Jan D.H. Paller, Amy S. Han, Sandra Y. Bolling, Marieke C. van der Zwaag, Paul A. Jonkman, Marcel F. Green, Kathleen J. Hobbs, Ryan P. |
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| AuthorAffiliation | 3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 5 Department of Pediatrics, Northwestern University, Chicago, Illinois, USA 4 Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 2 Department of Dermatology, Northwestern University, Chicago, Illinois, USA 1 Department of Pathology, Northwestern University, Chicago, Illinois, USA |
| AuthorAffiliation_xml | – name: 1 Department of Pathology, Northwestern University, Chicago, Illinois, USA – name: 3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – name: 4 Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – name: 2 Department of Dermatology, Northwestern University, Chicago, Illinois, USA – name: 5 Department of Pediatrics, Northwestern University, Chicago, Illinois, USA |
| Author_xml | – sequence: 1 givenname: Ryan P. surname: Hobbs fullname: Hobbs, Ryan P. organization: Department of Pathology, Northwestern University, Chicago, Illinois, USA – sequence: 2 givenname: Sandra Y. surname: Han fullname: Han, Sandra Y. organization: Department of Dermatology, Northwestern University, Chicago, Illinois, USA – sequence: 3 givenname: Paul A. surname: van der Zwaag fullname: van der Zwaag, Paul A. organization: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – sequence: 4 givenname: Marieke C. surname: Bolling fullname: Bolling, Marieke C. organization: Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – sequence: 5 givenname: Jan D.H. surname: Jongbloed fullname: Jongbloed, Jan D.H. organization: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – sequence: 6 givenname: Marcel F. surname: Jonkman fullname: Jonkman, Marcel F. organization: Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands – sequence: 7 givenname: Spiro surname: Getsios fullname: Getsios, Spiro organization: Department of Dermatology, Northwestern University, Chicago, Illinois, USA – sequence: 8 givenname: Amy S. surname: Paller fullname: Paller, Amy S. organization: Department of Dermatology, Northwestern University, Chicago, Illinois, USA – sequence: 9 givenname: Kathleen J. surname: Green fullname: Green, Kathleen J. email: kgreen@northwestern.edu organization: Department of Pathology, Northwestern University, Chicago, Illinois, USA |
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| CitedBy_id | crossref_primary_10_1371_journal_pone_0288263 crossref_primary_10_1111_ced_12226 crossref_primary_10_3109_15419061_2014_906533 crossref_primary_10_1136_jmedgenet_2015_103403 crossref_primary_10_3109_07853890_2013_866441 crossref_primary_10_1016_j_clindermatol_2011_01_011 crossref_primary_10_1111_bjd_19342 crossref_primary_10_1111_j_1365_2133_2011_10640_x crossref_primary_10_1111_j_1346_8138_2011_01302_x crossref_primary_10_1111_exd_12877 crossref_primary_10_1016_j_jaad_2014_01_903 crossref_primary_10_1016_j_jaad_2013_03_001 crossref_primary_10_3390_biomedicines10092118 crossref_primary_10_1093_hmg_ddr064 crossref_primary_10_1038_jid_2011_407 crossref_primary_10_1007_s00441_015_2136_5 crossref_primary_10_1038_s41598_023_37874_8 crossref_primary_10_1093_hmg_ddv481 crossref_primary_10_1111_1346_8138_13769 crossref_primary_10_1111_pde_12484 crossref_primary_10_1242_jcs_261899 crossref_primary_10_3389_fped_2021_750916 crossref_primary_10_1038_s41467_018_07523_0 crossref_primary_10_3390_vetsci9080433 crossref_primary_10_1007_s00441_014_2062_y |
| Cites_doi | 10.1136/jmg.2005.032904 10.1016/S0070-2153(09)89002-9 10.1111/j.1365-2133.2010.09668.x 10.1172/JCI27751 10.1074/jbc.272.34.21495 10.1387/ijdb.041794hp 10.1091/mbc.E02-08-0548 10.1083/jcb.123.3.691 10.1111/1523-1747.ep12876104 10.1086/496901 10.1016/S0735-1097(03)00628-4 10.1046/j.0022-202x.2001.01664.x 10.1038/jid.2009.357 10.1111/j.1600-0560.2008.01112.x 10.1242/dev.128.6.929 10.1111/j.1600-0625.2009.00908.x 10.1093/hmg/9.18.2761 10.1038/jid.2010.7 10.1038/sj.jid.5701015 10.1046/j.1523-1747.1999.00783.x |
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| Copyright | 2010 The Society for Investigative Dermatology, Inc 2015 INIST-CNRS Copyright Nature Publishing Group Nov 2010 |
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| DOI | 10.1038/jid.2010.189 |
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| Issue | 11 |
| Keywords | Bullous dermatosis Immunopathology Skin disease Epidermolysis bullosa Dermatology Acantholysis Autoimmune disease Mutation |
| Language | English |
| License | http://www.elsevier.com/open-access/userlicense/1.0 CC BY 4.0 https://www.elsevier.com/tdm/userlicense/1.0 https://www.elsevier.com/open-access/userlicense/1.0 |
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| Notes | These authors contributed equally to this work. |
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| References | Norgett, Hatsell, Carvajal-Huerta (bb0085) 2000; 9 Garcia-Gras, Lombardi, Giocondo (bb0055) 2006; 116 Whittock, Ashton, Dopping-Hepenstal (bb0105) 1999; 113 Bolling, Veenstra, Jonkman (bb0025) 2010; 162 Clark (bb0040) 1990; 94 Bolling, Jonkman (bb0020) 2009; 18 Stappenbeck, Bornslaeger, Corcoran (bb0095) 1993; 123 Green, Simpson (bb0060) 2007; 127 Choi, Park-Snyder, Pascoe (bb0035) 2002; 9 Jonkman, Pasmooij, Pasmans (bb0065) 2005; 77 Asimaki, Syrris, Ward (bb0015) 2009; 36 Mahoney, Sadowski, Brennan (bb0070) 2010; 130 Alcalai, Metzger, Rosenheck (bb0010) 2003; 42 Fontao, Favre, Riou (bb0045) 2003; 14 Gallicano, Bauer, Fuchs (bb0050) 2001; 128 Nishimura, Takeichi (bb0080) 2009; 89 Cabral, Liu, Hogan (bb0030) 2010; 130 Uzumcu, Norgett, Dindar (bb0100) 2006; 43 Whittock, Wan, Morley (bb0110) 2002; 118 Meng, Bornslaeger, Green (bb0075) 1997; 272 Peinado, Portillo, Cano (bb0090) 2004; 48 Garcia-Gras, E, Lombardi, R, Giocondo, MJ 2006; 116 Whittock, NV, Ashton, GH, Dopping-Hepenstal, PJ 1999; 113 Green, KJ, Simpson, CL 2007; 127 Gallicano, GI, Bauer, C, Fuchs, E 2001; 128 Alcalai, R, Metzger, S, Rosenheck, S 2003; 42 Norgett, EE, Hatsell, SJ, Carvajal-Huerta, L 2000; 9 Stappenbeck, TS, Bornslaeger, EA, Corcoran, CM 1993; 123 Mahoney, MY, Sadowski, S, Brennan, D 2010; 130 Fontao, L, Favre, B, Riou, S 2003; 14 Nishimura, T, Takeichi, M 2009; 89 Uzumcu, A, Norgett, EE, Dindar, A 2006; 43 Asimaki, A, Syrris, P, Ward, D 2009; 36 Choi, HJ, Park-Snyder, S, Pascoe, LT 2002; 9 Bolling, MC, Veenstra, MJ, Jonkman, MF 2010; 162 Bolling, MC, Jonkman, MF 2009; 18 Jonkman, MF, Pasmooij, AM, Pasmans, SG 2005; 77 Whittock, NV, Wan, H, Morley, SM 2002; 118 Meng, JJ, Bornslaeger, EA, Green, KJ 1997; 272 Cabral, RM, Liu, L, Hogan, C 2010; 130 Peinado, H, Portillo, F, Cano, A 2004; 48 Clark, RA 1990; 94 16823493 - J Clin Invest. 2006 Jul;116(7):2012-21 20130592 - J Invest Dermatol. 2010 Jun;130(6):1543-50 19924139 - J Invest Dermatol. 2010 Apr;130(4):968-78 11841538 - J Invest Dermatol. 2002 Feb;118(2):232-8 15349812 - Int J Dev Biol. 2004;48(5-6):365-75 12875771 - J Am Coll Cardiol. 2003 Jul 16;42(2):319-27 9261168 - J Biol Chem. 1997 Aug 22;272(34):21495-503 12802069 - Mol Biol Cell. 2003 May;14(5):1978-92 10594734 - J Invest Dermatol. 1999 Dec;113(6):940-6 11063735 - Hum Mol Genet. 2000 Nov 1;9(18):2761-6 2161886 - J Invest Dermatol. 1990 Jun;94(6 Suppl):128S-134S 19558499 - Exp Dermatol. 2009 Aug;18(8):658-68 16175511 - Am J Hum Genet. 2005 Oct;77(4):653-60 20302578 - Br J Dermatol. 2010 Jun;162(6):1388-94 12101406 - Nat Struct Biol. 2002 Aug;9(8):612-20 16467215 - J Med Genet. 2006 Feb;43(2):e5 7693716 - J Cell Biol. 1993 Nov;123(3):691-705 19178614 - J Cutan Pathol. 2009 May;36(5):553-9 17934502 - J Invest Dermatol. 2007 Nov;127(11):2499-515 19737641 - Curr Top Dev Biol. 2009;89:33-54 11222147 - Development. 2001 Mar;128(6):929-41 Green (10.1038/jid.2010.189_bb0060) 2007; 127 Mahoney (10.1038/jid.2010.189_bb0070) 2010; 130 Gallicano (10.1038/jid.2010.189_bb0050) 2001; 128 Jonkman (10.1038/jid.2010.189_bb0065) 2005; 77 Alcalai (10.1038/jid.2010.189_bb0010) 2003; 42 Nishimura (10.1038/jid.2010.189_bb0080) 2009; 89 Garcia-Gras (10.1038/jid.2010.189_bb0055) 2006; 116 Clark (10.1038/jid.2010.189_bb0040) 1990; 94 Fontao (10.1038/jid.2010.189_bb0045) 2003; 14 Peinado (10.1038/jid.2010.189_bb0090) 2004; 48 Asimaki (10.1038/jid.2010.189_bb0015) 2009; 36 Whittock (10.1038/jid.2010.189_bb0105) 1999; 113 Cabral (10.1038/jid.2010.189_bb0030) 2010; 130 Choi (10.1038/jid.2010.189_bb0035) 2002; 9 Bolling (10.1038/jid.2010.189_bb0025) 2010; 162 Whittock (10.1038/jid.2010.189_bb0110) 2002; 118 Norgett (10.1038/jid.2010.189_bb0085) 2000; 9 Uzumcu (10.1038/jid.2010.189_bb0100) 2006; 43 Bolling (10.1038/jid.2010.189_bb0020) 2009; 18 Meng (10.1038/jid.2010.189_bb0075) 1997; 272 Stappenbeck (10.1038/jid.2010.189_bb0095) 1993; 123 |
| References_xml | – volume: 18 start-page: 658 year: 2009 end-page: 668 ident: bb0020 article-title: Skin and heart: une liaison dangereuse publication-title: Exp Dermatol contributor: fullname: Jonkman – volume: 272 start-page: 21495 year: 1997 end-page: 21503 ident: bb0075 article-title: Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments publication-title: J Biol Chem contributor: fullname: Green – volume: 9 start-page: 612 year: 2002 end-page: 620 ident: bb0035 article-title: Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure publication-title: Nat Struct Biol contributor: fullname: Pascoe – volume: 9 start-page: 2761 year: 2000 end-page: 2766 ident: bb0085 article-title: Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma publication-title: Hum Mol Genet contributor: fullname: Carvajal-Huerta – volume: 43 start-page: e5 year: 2006 ident: bb0100 article-title: Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome publication-title: J Med Genet contributor: fullname: Dindar – volume: 123 start-page: 691 year: 1993 end-page: 705 ident: bb0095 article-title: Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks publication-title: J Cell Biol contributor: fullname: Corcoran – volume: 162 start-page: 1388 year: 2010 end-page: 1394 ident: bb0025 article-title: Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart publication-title: Br J Dermatol contributor: fullname: Jonkman – volume: 94 start-page: 128S year: 1990 end-page: 134S ident: bb0040 article-title: Fibronectin matrix deposition and fibronectin receptor expression in healing and normal skin publication-title: J Invest Dermatol contributor: fullname: Clark – volume: 118 start-page: 232 year: 2002 end-page: 238 ident: bb0110 article-title: Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome publication-title: J Invest Dermatol contributor: fullname: Morley – volume: 48 start-page: 365 year: 2004 end-page: 375 ident: bb0090 article-title: Transcriptional regulation of cadherins during development and carcinogenesis publication-title: Int J Dev Biol contributor: fullname: Cano – volume: 77 start-page: 653 year: 2005 end-page: 660 ident: bb0065 article-title: Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa publication-title: Am J Hum Genet contributor: fullname: Pasmans – volume: 36 start-page: 553 year: 2009 end-page: 559 ident: bb0015 article-title: Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations publication-title: J Cutan Pathol contributor: fullname: Ward – volume: 116 start-page: 2012 year: 2006 end-page: 2021 ident: bb0055 article-title: Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy publication-title: J Clin Invest contributor: fullname: Giocondo – volume: 127 start-page: 2499 year: 2007 end-page: 2515 ident: bb0060 article-title: Desmosomes: new perspectives on a classic publication-title: J Invest Dermatol contributor: fullname: Simpson – volume: 130 start-page: 968 year: 2010 end-page: 978 ident: bb0070 article-title: Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities publication-title: J Invest Dermatol contributor: fullname: Brennan – volume: 130 start-page: 1543 year: 2010 end-page: 1550 ident: bb0030 article-title: Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children publication-title: J Invest Dermatol contributor: fullname: Hogan – volume: 113 start-page: 940 year: 1999 end-page: 946 ident: bb0105 article-title: Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency publication-title: J Invest Dermatol contributor: fullname: Dopping-Hepenstal – volume: 89 start-page: 33 year: 2009 end-page: 54 ident: bb0080 article-title: Remodeling of the adherens junctions during morphogenesis publication-title: Curr Top Dev Biol contributor: fullname: Takeichi – volume: 128 start-page: 929 year: 2001 end-page: 941 ident: bb0050 article-title: Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature publication-title: Development contributor: fullname: Fuchs – volume: 42 start-page: 319 year: 2003 end-page: 327 ident: bb0010 article-title: A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair publication-title: J Am Coll Cardiol contributor: fullname: Rosenheck – volume: 14 start-page: 1978 year: 2003 end-page: 1992 ident: bb0045 article-title: Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus publication-title: Mol Biol Cell contributor: fullname: Riou – volume: 127 start-page: 2499 year: 2007 end-page: 2515 article-title: Desmosomes: new perspectives on a classic publication-title: J Invest Dermatol contributor: fullname: Simpson, CL – volume: 123 start-page: 691 year: 1993 end-page: 705 article-title: Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks publication-title: J Cell Biol contributor: fullname: Corcoran, CM – volume: 162 start-page: 1388 year: 2010 end-page: 1394 article-title: Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart publication-title: Br J Dermatol contributor: fullname: Jonkman, MF – volume: 14 start-page: 1978 year: 2003 end-page: 1992 article-title: Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus publication-title: Mol Biol Cell contributor: fullname: Riou, S – volume: 128 start-page: 929 year: 2001 end-page: 941 article-title: Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature publication-title: Development contributor: fullname: Fuchs, E – volume: 113 start-page: 940 year: 1999 end-page: 946 article-title: Striate palmoplantar keratoderma 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| SubjectTerms | Biological and medical sciences Bullous diseases of the skin Dermatology Desmoplakins - genetics Epidermolysis Bullosa - genetics Epidermolysis Bullosa - pathology Fatal Outcome Female Gene Deletion Humans Infant, Newborn Medical sciences |
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| Title | Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa |
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