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There are 20068 results for: content related to: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome

  1. You have free access to this content
    How the TP53 Family Proteins TP63 and TP73 Contribute to Tumorigenesis: Regulators and Effectors

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 702–714, Eleonora Candi, Massimiliano Agostini, Gerry Melino and Francesca Bernassola

    Article first published online : 7 MAR 2014, DOI: 10.1002/humu.22523

  2. 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

    Article first published online : 14 JUN 2013, DOI: 10.1002/ajmg.a.36074

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    Pro-apoptotic TP53 homolog TAp63 is repressed via epigenetic silencing and B-cell receptor signalling in chronic lymphocytic leukaemia

    British Journal of Haematology

    Volume 163, Issue 5, December 2013, Pages: 590–602, Leigh A. Humphries, J. Claire Godbersen, Olga V. Danilova, Prabhjot Kaur, Brock C. Christensen and Alexey V. Danilov

    Article first published online : 30 SEP 2013, DOI: 10.1111/bjh.12580

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    ΔNp63 knockdown mice: A mouse model for AEC syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1942–1947, Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo and Dennis R. Roop

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32794

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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

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32760

  6. 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

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22304

  7. 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

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

  8. A functional variant in TP63 at 3q28 associated with bladder cancer risk by creating an miR-140-5p binding site

    International Journal of Cancer

    Volume 139, Issue 1, 1 July 2016, Pages: 65–74, Meilin Wang, Mulong Du, Lan Ma, Haiyan Chu, Qiang Lv, Dingwei Ye, Jianming Guo, Chengyuan Gu, Guowei Xia, Yao Zhu, Qiang Ding, Lin Yuan, Guangbo Fu, Na Tong, Chao Qin, Changjun Yin, Jianfeng Xu and Zhengdong Zhang

    Article first published online : 18 JAN 2016, DOI: 10.1002/ijc.29978

  9. You have free access to this content
    Reciprocal Intraepithelial Interactions Between TP63 and Hedgehog Signaling Regulate Quiescence and Activation of Progenitor Elaboration by Mammary Stem Cells

    STEM CELLS

    Volume 26, Issue 5, May 2008, Pages: 1253–1264, Na Li, Samer Singh, Pratima Cherukuri, Hua Li, Ziqiang Yuan, Leif W. Ellisen, Baolin Wang, David Robbins and James DiRenzo

    Article first published online : 21 FEB 2008, DOI: 10.1634/stemcells.2007-0691

  10. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation

    British Journal of Dermatology

    Volume 162, Issue 1, January 2010, Pages: 201–207, S.E. Clements, T. Techanukul, D. Coman, J.E. Mellerio and J.A. McGrath

    Article first published online : 9 NOV 2009, DOI: 10.1111/j.1365-2133.2009.09496.x

  11. You have full text access to this OnlineOpen article
    Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3104–3109, Valeria Serra, Marco Castori, Mauro Paradisi, Laura Bui, Gerry Melino and Alessandro Terrinoni

    Article first published online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34335

  12. Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1432–1436, Piranit N. Kantaputra, Sutti Malaivijitnond, Alexandre R. Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum and Warissara Sripathomsawat

    Article first published online : 12 MAY 2011, DOI: 10.1002/ajmg.a.34011

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    Intraepithelial p63-dependent expression of distinct components of cell adhesion complexes in normal esophageal mucosa and squamous cell carcinoma

    International Journal of Cancer

    Volume 127, Issue 9, 1 November 2010, Pages: 2051–2062, Amélie Thépot, Agnès Hautefeuille, Marie-Pierre Cros, Behnoush Abedi-Ardekani, Aurélia Pétré, Odile Damour, Vladimir Krutovskikh and Pierre Hainaut

    Article first published online : 2 FEB 2010, DOI: 10.1002/ijc.25221

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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

    Article first published online : 28 JUN 2014, DOI: 10.1016/j.febslet.2014.06.047

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    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

    Article first published online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32791

  16. Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

    British Journal of Dermatology

    Volume 163, Issue 3, September 2010, Pages: 624–629, S.E. Clements, T. Techanukul, S.T. Holden, J.E. Mellerio, H. Dorkins, F. Escande and J.A. McGrath

    Article first published online : 20 MAY 2010, DOI: 10.1111/j.1365-2133.2010.09859.x

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    Phospho-ΔNp63α regulates AQP3, ALOX12B, CASP14 and CLDN1 expression through transcription and microRNA modulation

    FEBS Letters

    Volume 587, Issue 21, November 01, 2013, Pages: 3581–3586, Edward A. Ratovitski

    Article first published online : 23 SEP 2013, DOI: 10.1016/j.febslet.2013.09.023

  18. 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

    Article first published online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35414

  19. ADULT syndrome due to an R243W mutation in TP63

    International Journal of Dermatology

    Volume 51, Issue 6, June 2012, Pages: 693–696, David R. Berk, Nicole L. Armstrong, Marwan Shinawi and Alison J. Whelan

    Article first published online : 21 MAY 2012, DOI: 10.1111/j.1365-4632.2011.05375.x

  20. Comprehensive mutational analysis and mRNA isoform quantification of TP63 in normal and neoplastic human prostate cells

    The Prostate

    Volume 69, Issue 5, 1 April 2009, Pages: 559–569, J. Kellogg Parsons, Elizabeth A. Saria, Masashi Nakayama, Robert L. Vessella, Charles L. Sawyers, William B. Isaacs, Dennis A. Faith, G. Steven Bova, Christina A. Samathanam, Rebecca Mitchell and Angelo M. De Marzo

    Article first published online : 13 JAN 2009, DOI: 10.1002/pros.20904