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There are 32440 results for: content related to: ΔNp63 knockdown mice: A mouse model for AEC syndrome

  1. You have free access to this content
    International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1885–1893, Mary Fete, Hans vanBokhoven, Suzanne E. Clements, Frank McKeon, Dennis R. Roop, Maranke I. Koster, Caterina Missero, Laura D. Attardi, Vivian A. Lombillo, Edward Ratovitski, Meena Julapalli, Derek Ruths, Virginia P. Sybert, Elaine C. Siegfried and Alanna F. Bree

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32761

  2. You have free access to this content
    Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1948–1951, Tuula Rinne, Emine Bolat, Rowdy Meijer, Hans Scheffer and Hans van Bokhoven

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32793

  3. Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

    British Journal of Dermatology

    Volume 167, Issue 1, July 2012, Pages: 134–144, S.E. Clements, T. Techanukul, J.E. Lai-Cheong, J.B. Mee, A.P. South, C. Pourreyron, N.P. Burrows, J.E. Mellerio and J.A. McGrath

    Version of Record online : 14 MAY 2012, DOI: 10.1111/j.1365-2133.2012.10888.x

  4. You have full text access to this OnlineOpen article
    Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

    EMBO Molecular Medicine

    Volume 4, Issue 3, March 2012, Pages: 192–205, Giustina Ferone, Helen A. Thomason, Dario Antonini, Laura De Rosa, Bing Hu, Marica Gemei, Huiqing Zhou, Raffaele Ambrosio, David P. Rice, Dario Acampora, Hans van Bokhoven, Luigi Del Vecchio, Maranke I. Koster, Gianluca Tadini, Bradley Spencer-Dene, Michael Dixon, Jill Dixon and Caterina Missero

    Version of Record online : 13 JAN 2012, DOI: 10.1002/emmm.201100199

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    ΔNp63 is regulated by BMP4 signaling and is required for early epidermal development in Xenopus

    Developmental Dynamics

    Volume 241, Issue 2, February 2012, Pages: 257–269, Celeste Tríbulo, María Guadalupe Barrionuevo, Tristán H. Agüero, Sara S. Sánchez, Nora B. Calcaterra and Manuel J. Aybar

    Version of Record online : 14 DEC 2011, DOI: 10.1002/dvdy.23706

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    Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1952–1957, Veronica G. Beaudry, Navneeta Pathak, Maranke I. Koster and Laura D. Attardi

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32760

  7. You have full text access to this OnlineOpen article
    p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis

    Experimental Dermatology

    Volume 24, Issue 2, February 2015, Pages: 114–119, Maria Rosaria Mollo, Dario Antonini, Karen Mitchell, Paola Fortugno, Antonio Costanzo, Jill Dixon, Francesco Brancati and Caterina Missero

    Version of Record online : 27 JAN 2015, DOI: 10.1111/exd.12593

  8. Modeling AEC—New approaches to study rare genetic disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2443–2454, Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

    Version of Record online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

  9. Transcriptional regulators of the ΔNp63: Their role in limbal epithelial cell proliferation

    Journal of Cellular Physiology

    Volume 228, Issue 3, March 2013, Pages: 536–546, Yi-Jen Hsueh, Pei-Ching Kuo and Jan-Kan Chen

    Version of Record online : 23 NOV 2012, DOI: 10.1002/jcp.24160

  10. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 894–904, Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22304

  11. Pattern of p63 mutations and their phenotypes—update

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1396–1406, Tuula Rinne, Ben Hamel, Hans van Bokhoven and Han G. Brunner

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31271

  12. You have full text access to this OnlineOpen article
    p63 and FGFR: when development meets proliferation

    EMBO Molecular Medicine

    Volume 4, Issue 3, March 2012, Pages: 165–167, G. Paolo Dotto

    Version of Record online : 13 FEB 2012, DOI: 10.1002/emmm.201200202

  13. P63 gene mutations and human developmental syndromes

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 284–290, Han G. Brunner, Ben C.J. Hamel and Hans van Bokhoven

    Version of Record online : 25 SEP 2002, DOI: 10.1002/ajmg.10778

  14. EGFR through STAT3 modulates ΔN63α expression to sustain tumor-initiating cell proliferation in squamous cell carcinomas

    Journal of Cellular Physiology

    Volume 228, Issue 4, April 2013, Pages: 871–878, Francesca Ripamonti, Luisa Albano, Anna Rossini, Serena Borrelli, Sonia Fabris, Roberto Mantovani, Antonino Neri, Andrea Balsari, Alessandra Magnifico and Elda Tagliabue

    Version of Record online : 20 DEC 2012, DOI: 10.1002/jcp.24238

  15. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1957–1961, Vanessa Barbaro, Paola Nardiello, Giuseppe Castaldo, Colin E. Willoughby, Stefano Ferrari, Diego Ponzin, Felice Amato, Ernesto Bonifazi, Mohit Parekh, Arianna Calistri, Cristina Parolin and Enzo Di Iorio

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35414

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    TP63 and TP73 in cancer, an unresolved “family” puzzle of complexity, redundancy and hierarchy

    FEBS Letters

    Volume 588, Issue 16, August 19, 2014, Pages: 2590–2599, Antonio Costanzo, Natalia Pediconi, Alessandra Narcisi, Francesca Guerrieri, Laura Belloni, Francesca Fausti, Elisabetta Botti and Massimo Levrero

    Version of Record online : 28 JUN 2014, DOI: 10.1016/j.febslet.2014.06.047

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    Structural basis of p63α SAM domain mutants involved in AEC syndrome

    The FEBS Journal

    Volume 278, Issue 15, August 2011, Pages: 2680–2688, Aruna Sathyamurthy, Stefan M. V. Freund, Christopher M. Johnson, Mark D. Allen and Mark Bycroft

    Version of Record online : 20 JUN 2011, DOI: 10.1111/j.1742-4658.2011.08194.x

  18. Epidermal overexpression of transgenic ΔNp63 promotes type 2 immune and myeloid inflammatory responses and hyperplasia via NF-κB activation

    The Journal of Pathology

    Volume 232, Issue 3, February 2014, Pages: 356–368, Jihui Du, Rose-Anne Romano, Han Si, Austin Mattox, Yansong Bian, Xinping Yang, Satrajit Sinha, Carter Van Waes and Zhong Chen

    Version of Record online : 13 JAN 2014, DOI: 10.1002/path.4302

  19. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1961–1971, Emma Vernersson Lindahl, Elvin L. Garcia and Alea A. Mills

    Version of Record online : 14 JUN 2013, DOI: 10.1002/ajmg.a.36074

  20. You have free access to this content
    Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1916–1921, V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree and Carlos A. Bacino

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32791