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There are 19838 results for: content related to: Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

  1. Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 697–705, Torsten B. Rasmussen, Johan Palmfeldt, Peter H. Nissen, Raffaela Magnoni, Søren Dalager, Uffe B. Jensen, Won Y. Kim, Lene Heickendorff, Henning Mølgaard, Henrik K. Jensen, Ulrik T. Baandrup, Peter Bross and Jens Mogensen

    Version of Record online : 11 MAR 2013, DOI: 10.1002/humu.22289

  2. Identification of Arrhythmogenic Right Ventricular Cardiomyopathy-Causing Gene Mutations in Young Sudden Unexpected Death Autopsy Cases

    Journal of Forensic Sciences

    Volume 60, Issue 2, March 2015, Pages: 457–461, Takako Sato, Hajime Nishio and Koichi Suzuki

    Version of Record online : 18 FEB 2015, DOI: 10.1111/1556-4029.12657

  3. You have free access to this content
    Cell–cell connectivity: desmosomes and disease

    The Journal of Pathology

    Volume 226, Issue 2, January 2012, Pages: 158–171, Matthew A Brooke, Daniela Nitoiu and David P Kelsell

    Version of Record online : 14 NOV 2011, DOI: 10.1002/path.3027

  4. Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

    Clinical Genetics

    Volume 80, Issue 1, July 2011, Pages: 50–58, M Al-Owain, S Wakil, F Shareef, A Al-Fatani, E Hamadah, M Haider, H Al-Hindi, A Awaji, O Khalifa, B Baz, R Ramadhan and B Meyer

    Version of Record online : 22 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01518.x

  5. Early-Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin

    Pediatric Dermatology

    Volume 32, Issue 1, January/February 2015, Pages: 102–108, Nina K. Antonov, Mina Y. Kingsbery, Luis O. Rohena, Teresa M. Lee, Angela Christiano, Maria C. Garzon and Christine T. Lauren

    Version of Record online : 16 DEC 2014, DOI: 10.1111/pde.12484

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    A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

    Human Mutation

    Volume 30, Issue 9, September 2009, Pages: 1278–1283, Paul A. van der Zwaag, Jan D.H. Jongbloed, Maarten P. van den Berg, Jasper J. van der Smagt, Roselie Jongbloed, Hennie Bikker, Robert M.W. Hofstra and J. Peter van Tintelen

    Version of Record online : 9 JUN 2009, DOI: 10.1002/humu.21064

  7. Complexus adhaerentes, a new group of desmoplakin-containing junctions in endothelial cells: II. Different types of lymphatic vessels

    Differentiation

    Volume 57, Issue 2, July 1994, Pages: 97–117, Monika Schmelz, Roland Moll, Caecilia Kuhn and Werner W. Franke

    Version of Record online : 11 NOV 2002, DOI: 10.1046/j.1432-0436.1994.5720097.x

  8. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

    Pediatric Dermatology

    Volume 32, Issue 5, September/October 2015, Pages: 641–646, Vered Molho-Pessach, Sivan Sheffer, Rula Siam, Spiro Tams, Ihab Siam, Rula Awwad, Sofia Babay, Julius Golender, Natalia Simanovsky, Yuval Ramot and Abraham Zlotogorski

    Version of Record online : 30 MAR 2015, DOI: 10.1111/pde.12541

  9. Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers

    Experimental Dermatology

    Volume 8, Issue 6, December 1999, Pages: 462–470, K. J. Green, S. G. Guy, P. B. Cserhalmi-Friedman, W. H. I. McLean, A. M. Christiano and R. M. Wagner

    Version of Record online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1999.tb00304.x

  10. In Vivo Function of Desmosomes

    The Journal of Dermatology

    Volume 31, Issue 3, March 2004, Pages: 171–187, Xing Cheng and Peter J. Koch

    Version of Record online : 22 JUL 2014, DOI: 10.1111/j.1346-8138.2004.tb00654.x

  11. Desmosomal defects in acantholytic squamous cell carcinomas

    Journal of Cutaneous Pathology

    Volume 41, Issue 11, November 2014, Pages: 873–879, Charlene O'Shea, James E. Fitzpatrick and Peter J. Koch

    Version of Record online : 4 NOV 2014, DOI: 10.1111/cup.12390

  12. You have free access to this content
    Skin and heart: une liaison dangereuse

    Experimental Dermatology

    Volume 18, Issue 8, August 2009, Pages: 658–668, Maria C. Bolling and Marcel F. Jonkman

    Version of Record online : 23 JUN 2009, DOI: 10.1111/j.1600-0625.2009.00908.x

  13. Desmosomes in Development and Disease

    Cell Junctions: Adhesion, Development, and Disease

    Ansgar Schmidt, Peter J. Koch, Pages: 235–249, 2008

    Published Online : 11 APR 2008, DOI: 10.1002/9783527622092.ch12

  14. Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

    British Journal of Dermatology

    Volume 166, Issue 4, April 2012, Pages: 894–896, F.J.D. Smith, N.J. Wilson, C. Moss, P. Dopping-Hepenstal and J. McGrath

    Version of Record online : 5 DEC 2011, DOI: 10.1111/j.1365-2133.2011.10664.x

  15. Desmoplakins of Epithelial and Myocardial Desmosomes are Immunologically and Biochemically Related

    Differentiation

    Volume 23, Issue 1-3, December 1982, Pages: 115–127, Werner W. Franke, Roland Moll, Dorothea L. Schiller, Erika Schmid, Juergen Kartenbeck and Helga Mueller

    Version of Record online : 31 JUL 2006, DOI: 10.1111/j.1432-0436.1982.tb01274.x

  16. The ARVD/C Genetic Variants Database: 2014 Update

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 403–410, Elisabetta Lazzarini, Jan D. H. Jongbloed, Kalliopi Pilichou, Gaetano Thiene, Cristina Basso, Hennie Bikker, Bart Charbon, Morris Swertz, J. Peter van Tintelen and Paul A. van der Zwaag

    Version of Record online : 19 MAR 2015, DOI: 10.1002/humu.22765

  17. Distribution of desmoplakin in normal cultured human keratinocytes and in basal cell carcinoma cells

    Cell Motility and the Cytoskeleton

    Volume 13, Issue 3, 1989, Pages: 181–194, Jonathan C. R. Jones and Kent A. Grelling

    Version of Record online : 4 FEB 2005, DOI: 10.1002/cm.970130306

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    Plasma desmoplakin I biomarker of vascular recurrence after ischemic stroke

    Journal of Neurochemistry

    Volume 121, Issue 2, April 2012, Pages: 314–325, Antonio J. López-Farré, José J. Zamorano-León, Antonio Segura, Petra J. Mateos-Cáceres, Javier Modrego, Pablo Rodríguez-Sierra, Laura Calatrava, Juan Tamargo and Carlos Macaya

    Version of Record online : 13 MAR 2012, DOI: 10.1111/j.1471-4159.2012.07683.x

  19. Compositionally different desmosomes in the various compartments of the human hair follicle

    Differentiation

    Volume 63, Issue 5, October 1998, Pages: 295–304, Hjalmar Kurzen, Ingrid Moll, Roland Moll, Stephan Schäfer, Enikö Simics, Masayuki Amagai, Margaret J. Wheelock and W. W. Franke

    Version of Record online : 29 OCT 2002, DOI: 10.1046/j.1432-0436.1998.6350295.x

  20. Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

    Journal of Cutaneous Pathology

    Volume 36, Issue 5, May 2009, Pages: 553–559, Angeliki Asimaki, Petros Syrris, Deirdre Ward, Luis G. Guereta, Jeffrey E. Saffitz and William J. McKenna

    Version of Record online : 29 OCT 2008, DOI: 10.1111/j.1600-0560.2008.01112.x