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There are 26847 results for: content related to: A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse

  1. You have free access to this content
    An Orchestrated Program Regulating Secretory Pathway Genes and Cargos by the Transmembrane Transcription Factor CREB-H


    Volume 14, Issue 4, April 2013, Pages: 382–398, Sónia Barbosa, Giovanna Fasanella, Suzanne Carreira, Marta Llarena, Rebecca Fox, Cristina Barreca, Deborah Andrew and Peter O'Hare

    Article first published online : 24 JAN 2013, DOI: 10.1111/tra.12038

  2. Generation of a conditional CREB Ser133Ala knockin mouse


    Volume 47, Issue 10, October 2009, Pages: 688–696, Andrew D. Wingate, Kirsty J. Martin, Chris Hunter, Julia M. Carr, Carol Clacher and J. Simon C. Arthur

    Article first published online : 20 JUL 2009, DOI: 10.1002/dvg.20548

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    TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 689–701, Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

    Article first published online : 14 MAR 2014, DOI: 10.1002/humu.22514

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    Individual CREB-target genes dictate usage of distinct cAMP-responsive coactivation mechanisms

    The EMBO Journal

    Volume 26, Issue 12, June 20, 2007, Pages: 2890–2903, Wu Xu, Lawryn H Kasper, Stephanie Lerach, Trushar Jeevan and Paul K Brindle

    Article first published online : 24 MAY 2007, DOI: 10.1038/sj.emboj.7601734

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    TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 672–688, Bernard Leroy, Martha Anderson and Thierry Soussi

    Article first published online : 20 MAY 2014, DOI: 10.1002/humu.22552

  6. You have full text access to this OnlineOpen article
    DIP–STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 644–654, Vincent Castella, Joëlle Gervaix and Diana Hall

    Article first published online : 5 MAR 2013, DOI: 10.1002/humu.22280

  7. CREB expression in the brains of two closely related parasitic wasp species that differ in long-term memory formation

    Insect Molecular Biology

    Volume 19, Issue 3, June 2010, Pages: 367–379, M. Van Den Berg, P. Verbaarschot, S. Hontelez, L. E. M. Vet, M. Dicke and H. M. Smid

    Article first published online : 4 MAR 2010, DOI: 10.1111/j.1365-2583.2010.00997.x

  8. You have full text access to this OnlineOpen article
    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Article first published online : 7 OCT 2013, DOI: 10.1002/humu.22433

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

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    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Article first published online : 11 FEB 2014, DOI: 10.1002/humu.22506

  11. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 124–135, Annick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew Sapio, Carmen Lambercy, Catherine Buresi, Bouchra Ouled Amar Bencheikh, Fatiha Lahjouji, Reda Ouazzani, Arielle Crespel, Denys Chaigne and Alain Malafosse

    Article first published online : 31 OCT 2011, DOI: 10.1002/humu.21613

  12. Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 537–547, In-Hee Lee, Kyungjoon Lee, Michael Hsing, Yongjoon Choe, Jin-Ho Park, Shu Hee Kim, Justin M. Bohn, Matthew B. Neu, Kyu-Baek Hwang, Robert C. Green, Isaac S. Kohane and Sek Won Kong

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22520

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    Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22341

  14. Corneal Dystrophy-Causing SLC4A11 Mutants: Suitability for Folding-Correction Therapy

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1082–1091, Sampath K. Loganathan and Joseph R. Casey

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22601

  15. Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 998–1010, Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball Jr., Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, Ali Mortazavi, Silvère M. van der Maarel and Kyoko Yokomori

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22593

  16. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 986–996, Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves and Francesco Muntoni

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22326

  17. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1449–1457, Catherine L. Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Hugh Dawkins, Anna Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, Craig Campbell, Yi Dai, Nina Barišić, Tea Kos, Petr Brabec, Jes Rahbek, Jaana Lahdetie, Sylvie Tuffery-Giraud, Mireille Claustres, France Leturcq, Rabah Ben Yaou, Maggie C. Walter, Olivia Schreiber, Veronika Karcagi, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Isis de la caridad Guerrero Sarmiento, Anna Ambrosini, Francesca Ceradini, En Kimura, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Jorge Oliveira, Rosário Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana Milic Rasic, Manuel Posada, Francesc Palau, Björn Lindvall, Clemens Bloetzer, Ayşe Karaduman, Haluk Topaloğlu, Serap Inal, Piraye Oflazer, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly Peay, Kevin M. Flanigan, David Salgado, Brigitta von Rekowski, Stephen Lynn, Emma Heslop, Sabina Gainotti, Domenica Taruscio, Jan Kirschner, Jan Verschuuren, Kate Bushby, Christophe Béroud and Hanns Lochmüller

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22390

  18. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22354

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    Direct imaging of phosphorylation-dependent conformational change and DNA binding of CREB by electron microscopy

    Genes to Cells

    Volume 5, Issue 6, June 2000, Pages: 515–522, Jiro Usukura, Yuji Nishizawa, Atsushi Shimomura, Kazuto Kobayashi, Toshiharu Nagatsu and Masatoshi Hagiwara

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1365-2443.2000.00345.x

  20. Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 341–349, Xiao-Nan Zhao and Karen Usdin

    Article first published online : 13 JAN 2014, DOI: 10.1002/humu.22495