PMC Links for OMIM (Select 125647) - PMC

Select item 47061181.

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome

Lynn M. Boyden, Chen Y. Kam, Angela Hernández-Martín, Jing Zhou, Brittany G. Craiglow, Robert Sidbury, Erin F. Mathes, Sheilagh M. Maguiness, Debra A. Crumrine, Mary L. Williams, Ronghua Hu, Richard P. Lifton, Peter M. Elias, Kathleen J. Green, Keith A. Choate

Hum Mol Genet. 2016 Jan 15; 25(2): 348–357. Published online 2015 Nov 24. doi: 10.1093/hmg/ddv481

PMCID:: PMC4706118

Article PDF–1.0M

Select item 46499012.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Maeve A. McAleer, Elizabeth Pohler, Frances J.D. Smith, Neil J. Wilson, Christian Cole, Stuart MacGowan, Jennifer L. Koetsier, Lisa M. Godsel, Robert M. Harmon, Robert Gruber, Debra Crumrine, Peter M. Elias, Michael McDermott, Karina Butler, Annemarie Broderick, Ofer Sarig, Eli Sprecher, Kathleen J. Green, W.H. Irwin McLean, Alan D. Irvine

J Allergy Clin Immunol. 2015 Nov; 136(5): 1268–1276. doi: 10.1016/j.jaci.2015.05.002

PMCID:: PMC4649901

Article PDF–4.4M

Select item 30613133.

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

Ryan P. Hobbs, Sandra Y. Han, Paul A. van der Zwaag, Marieke C. Bolling, Jan D.H. Jongbloed, Marcel F. Jonkman, Spiro Getsios, Amy S. Paller, Kathleen J. Green

J Invest Dermatol. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: J Invest Dermatol. 2010 Nov; 130(11): 2680–2683. Published online 2010 Jul 8. doi: 10.1038/jid.2010.189

PMCID:: PMC3061313

Article PDF–77K

Select item 25646454.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos‐like syndrome

A Uzumcu, E E Norgett, A Dindar, O Uyguner, K Nisli, H Kayserili, S E Sahin, E Dupont, N J Severs, I M Leigh, M Yuksel‐Apak, D P Kelsell, B Wollnik

J Med Genet. 2006 Feb; 43(2): e5. doi: 10.1136/jmg.2005.032904

PMCID:: PMC2564645

Article PDF–2.0M

Select item 22001235.

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks

J Cell Biol. 1993 Nov 1; 123(3): 691–705. doi: 10.1083/jcb.123.3.691

PMCID:: PMC2200123

Summary PDF–5.5M

Select item 21209556.

Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly

J Cell Biol. 1996 Aug 2; 134(4): 985–1001. doi: 10.1083/jcb.134.4.985

PMCID:: PMC2120955

Summary PDF–8.7M

Select item 12756147.

Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa

Marcel F. Jonkman, Anna M. G. Pasmooij, Suzanne G. M. A. Pasmans, Maarten P. van den Berg, Henk J. ter Horst, Albertus Timmer, Hendri H. Pas

Am J Hum Genet. 2005 Oct; 77(4): 653–660. Published online 2005 Aug 17. doi: 10.1086/496901

PMCID:: PMC1275614

Article PDF–3.3M

Select item 3850988.

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy

Alessandra Rampazzo, Andrea Nava, Sandro Malacrida, Giorgia Beffagna, Barbara Bauce, Valeria Rossi, Rosanna Zimbello, Barbara Simionati, Cristina Basso, Gaetano Thiene, Jeffrey A. Towbin, Gian A. Danieli

Am J Hum Genet. 2002 Nov; 71(5): 1200–1206. Published online 2002 Oct 8. doi: 10.1086/344208

PMCID:: PMC385098

Article PDF–392K

Select item 2958739.

Human autoantibodies against desmoplakins in paraneoplastic pemphigus.

J R Oursler, R S Labib, L Ariss-Abdo, T Burke, E J O'Keefe, G J Anhalt

J Clin Invest. 1992 Jun; 89(6): 1775–1782. doi: 10.1172/JCI115781

PMCID:: PMC295873

Summary Page Browse PDF–2.7M

Select item 4827510.

Molecular structure of the human desmoplakin I and II amino terminus.

M L Virata, R M Wagner, D A Parry, K J Green

Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2): 544–548. doi: 10.1073/pnas.89.2.544

PMCID:: PMC48275

Summary Page Browse PDF–1.1M

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