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There are 18057 results for: content related to: P63 gene mutations and human developmental syndromes

  1. 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

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    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. Further phenotypic and genetic variation in ADULT syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2495–2500, Tom T. Reisler, Michael A. Patton and Peter P.J. Meagher

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31482

  4. 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

  5. Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 887–891, Peter Kannu, Ravi Savarirayan, Linda Ozoemena, Susan M. White and John A. McGrath

    Version of Record online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31187

  6. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 146–149, Anne M. Slavotinek, June Tanaka, Alison Winder, Karin Vargervik, Anita Haggstrom and Michael Bamshad

    Version of Record online : 19 AUG 2005, DOI: 10.1002/ajmg.a.30900

  7. 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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    p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

    Journal of Orthopaedic Research

    Volume 22, Issue 1, January 2004, Pages: 1–5, V. Berdón-Zapata, M. Granillo-Álvarez, M. Valdés-Flores, J. E. García-Ortiz, S. Kofman-Alfaro and J. C. Zenteno

    Version of Record online : 1 JAN 2006, DOI: 10.1016/S0736-0266(03)00166-9

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    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

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    The role of p63 in germ cell apoptosis in the developing testis

    Journal of Cellular Physiology

    Volume 210, Issue 1, January 2007, Pages: 87–98, Bétrice Petre-Lazar, Gabriel Livera, Stéphanie G. Moreno, Emilie Trautmann, Clotilde Duquenne, Vincent Hanoux, René Habert and Hervé Coffigny

    Version of Record online : 22 SEP 2006, DOI: 10.1002/jcp.20829

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    Transcriptional control of late differentiation in human keratinocytes by TAp63 and Notch

    Experimental Dermatology

    Volume 24, Issue 10, October 2015, Pages: 754–760, Li Fang Koh, Boon Kiat Ng, Juliette Bertrand and Françoise Thierry

    Version of Record online : 14 JUL 2015, DOI: 10.1111/exd.12764

  12. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 370–373, Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi and Yoshimitsu Fukushima

    Version of Record online : 9 APR 2003, DOI: 10.1002/ajmg.a.20064

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    Characterization of the expression pattern of p63α and δnp63α in benign and malignant oral epithelial lesions

    International Journal of Cancer

    Volume 87, Issue 3, 1 August 2000, Pages: 368–372, Karin Nylander, Philip J. Coates and Peter A. Hall

    Version of Record online : 10 JUL 2000, DOI: 10.1002/1097-0215(20000801)87:3<368::AID-IJC9>3.0.CO;2-J

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    Rescue of key features of the p63-null epithelial phenotype by inactivation of Ink4a and Arf

    The EMBO Journal

    Volume 28, Issue 13, July 8, 2009, Pages: 1904–1915, Xiaohua Su, Min Soon Cho, Young-Jin Gi, Bernard A Ayanga, Charles J Sherr and Elsa R Flores

    Version of Record online : 4 JUN 2009, DOI: 10.1038/emboj.2009.151

  15. p63: Defining roles in morphogenesis, homeostasis, and neoplasia of the epidermis

    Molecular Carcinogenesis

    Volume 46, Issue 8, August 2007, Pages: 716–724, Kathryn E. King and Wendy C. Weinberg

    Version of Record online : 3 MAY 2007, DOI: 10.1002/mc.20337

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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

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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

  18. Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 1, 15 May 2004, Pages: 74–80, Andreas Zankl, H. Scheffer and Albert Schinzel

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20646

  19. Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2001–2004, Laura Guazzarotti, Cristiana Caprio, Tuula K. Rinne, Mariangela Bosoni, Giulia Pattarino, Silvia Mauri, Gian Luca Tadini, Hans van Bokhoven and Gian Vincenzo Zuccotti

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32371

  20. 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