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There are 10893 results for: content related to: Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations

  1. You have free access to this content
    Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

    Muscle & Nerve

    Volume 35, Issue 1, January 2007, Pages: 24–35, J.R. McMillan, M. Akiyama, F. Rouan, J.E. Mellerio, E.B. Lane, I.M. Leigh, K. Owaribe, G. Wiche, N. Fujii, J. Uitto, R.A.J. Eady and H. Shimizu

    Version of Record online : 11 SEP 2006, DOI: 10.1002/mus.20655

  2. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

    Human Mutation

    Volume 31, Issue 3, March 2010, Pages: 308–316, Ken Natsuga, Wataru Nishie, Masashi Akiyama, Hideki Nakamura, Satoru Shinkuma, James R. McMillan, Akari Nagasaki, Cristina Has, Takeshi Ouchi, Akira Ishiko, Yoshiaki Hirako, Katsushi Owaribe, Daisuke Sawamura, Leena Bruckner-Tuderman and Hiroshi Shimizu

    Version of Record online : 5 JAN 2010, DOI: 10.1002/humu.21189

  3. Stabilization of the dystroglycan complex in Cajal bands of myelinating Schwann cells through plectin-mediated anchorage to vimentin filaments

    Glia

    Volume 61, Issue 8, August 2013, Pages: 1274–1287, Gernot Walko, Karl L. Wögenstein, Lilli Winter, Irmgard Fischer, M. Laura Feltri and Gerhard Wiche

    Version of Record online : 9 JUL 2013, DOI: 10.1002/glia.22514

  4. Antiplectin autoantibodies in subepidermal blistering diseases

    British Journal of Dermatology

    Volume 161, Issue 4, October 2009, Pages: 762–771, J.J.A. Buijsrogge, M.C.J.M. De Jong, G.J. Kloosterhuis, M.H. Vermeer, J. Koster, A. Sonnenberg, M.F. Jonkman and H.H. Pas

    Version of Record online : 10 APR 2009, DOI: 10.1111/j.1365-2133.2009.09206.x

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    Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

    Experimental Dermatology

    Volume 14, Issue 4, April 2005, Pages: 241–249, E. Pfendner, F. Rouan and J. Uitto

    Version of Record online : 15 MAR 2005, DOI: 10.1111/j.0906-6705.2005.00324.x

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    Plectin and human genetic disorders of the skin and muscle

    Experimental Dermatology

    Volume 5, Issue 5, October 1996, Pages: 237–246, Jouni Uitto, Leena Pulkkinen, Frances J. D. Smith and W H Irwin McLean

    Version of Record online : 11 APR 2006, DOI: 10.1111/j.1600-0625.1996.tb00124.x

  7. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

    Clinical Genetics

    Volume 80, Issue 5, November 2011, Pages: 444–451, RA Maselli, J Arredondo, O Cagney, T Mozaffar, S Skinner, S Yousif, RR Davis, JP Gregg, M Sivak, TH Konia, K Thomas and RL Wollmann

    Version of Record online : 22 DEC 2010, DOI: 10.1111/j.1399-0004.2010.01602.x

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    Actin-binding domain of mouse plectin

    European Journal of Biochemistry

    Volume 271, Issue 10, May 2004, Pages: 1873–1884, Jozef Ševčík, L'ubica Urbániková, Július Košt'an, Lubomír Janda and Gerhard Wiche

    Version of Record online : 19 APR 2004, DOI: 10.1111/j.1432-1033.2004.04095.x

  9. Plakin Proteins, Hemidesmosomes and Human Disease

    Standard Article

    eLS

    Martyn Chidgey

    Published Online : 15 OCT 2012, DOI: 10.1002/9780470015902.a0024527

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    The RON-receptor regulates pancreatic cancer cell migration through phosphorylation-dependent breakdown of the hemidesmosome

    International Journal of Cancer

    Volume 131, Issue 8, 15 October 2012, Pages: 1744–1754, Peter T. Yu, Michele Babicky, Dawn Jaquish, Randy French, Karly Marayuma, Evangeline Mose, Sherry Niessen, Heather Hoover, David Shields, David Cheresh, Benjamin F. Cravatt and Andrew M. Lowy

    Version of Record online : 8 MAR 2012, DOI: 10.1002/ijc.27447

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    Structural basis of the interaction between integrin α6β4 and plectin at the hemidesmosomes

    The EMBO Journal

    Volume 28, Issue 8, April 22, 2009, Pages: 1180–1190, José M de Pereda, M Pilar Lillo and Arnoud Sonnenberg

    Version of Record online : 26 FEB 2009, DOI: 10.1038/emboj.2009.48

  12. DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia

    International Journal of Dermatology

    Volume 50, Issue 4, April 2011, Pages: 439–442, Hideki Nakamura, Ken Natsuga, Wataru Nishie, James R. McMillan, Hiroyuki Nakamura, Daisuke Sawamura, Masashi Akiyama and Hiroshi Shimizu

    Version of Record online : 18 MAR 2011, DOI: 10.1111/j.1365-4632.2010.04771.x

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    Plectin is concentrated at intercellular junctions and at the nuclear surface in morphologically differentiated rat Sertoli cells

    The Anatomical Record

    Volume 254, Issue 3, 1 March 1999, Pages: 418–428, Julian A. Guttman, David J. Mulholland and A. Wayne Vogl

    Version of Record online : 19 NOV 1999, DOI: 10.1002/(SICI)1097-0185(19990301)254:3<418::AID-AR13>3.0.CO;2-C

  14. Plakins in striated muscle

    Muscle & Nerve

    Volume 41, Issue 3, March 2010, Pages: 299–308, Justin G. Boyer, Marija A. Bernstein and Céline Boudreau-Larivière

    Version of Record online : 18 SEP 2009, DOI: 10.1002/mus.21472

  15. You have full text access to this Open Access content
    BRCA2 interacts with the cytoskeletal linker protein plectin to form a complex controlling centrosome localization

    Cancer Science

    Volume 100, Issue 11, November 2009, Pages: 2115–2125, Takayoshi Niwa, Hiroko Saito, Shinobu Imajoh-ohmi, Michio Kaminishi, Yasuyuki Seto, Yoshio Miki and Akira Nakanishi

    Version of Record online : 8 JUL 2009, DOI: 10.1111/j.1349-7006.2009.01282.x

  16. Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies

    Experimental Dermatology

    Volume 6, Issue 1, February 1997, Pages: 41–48, D. Koss-Harnes, F. L. Jahnsen, G. Wiche, E. Soyland, P. Brandtzaeg and T. Gedde-Dahl Jr.

    Version of Record online : 11 APR 2006, DOI: 10.1111/j.1600-0625.1997.tb00144.x

  17. Role of Plakins in Human Genetic Disease

    Standard Article

    eLS

    Bertrand Favre and Luca Borradori

    Published Online : 16 MAY 2016, DOI: 10.1002/9780470015902.a0026532

  18. Distribution of plectin, an intermediate filament-associated protein, in the adult rat central nervous system

    Journal of Neuroscience Research

    Volume 37, Issue 4, 1 March 1994, Pages: 515–528, L. D. Errante, G. Wiche and Dr G. Shaw

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490370411

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    Hemidesmosomal variants of epidermolysis bullosa

    Experimental Dermatology

    Volume 7, Issue 2-3, June 1998, Pages: 46–64, L. Pulkkinen and J. Uitto

    Version of Record online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1998.tb00304.x

  20. You have full text access to this OnlineOpen article
    Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: E1687–E1698, Ken Natsuga, Wataru Nishie, Satoru Shinkuma, Ken Arita, Hideki Nakamura, Makiko Ohyama, Hitoshi Osaka, Takeshi Kambara, Yoshiaki Hirako and Hiroshi Shimizu

    Version of Record online : 27 JUL 2010, DOI: 10.1002/humu.21330