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Nonsense mutation

Clonal Architectures and Driver Mutations in Metastatic Melanomas

Li Ding, Minjung Kim, Krishna L. Kanchi, Nathan D. Dees, Charles Lu, Malachi Griffith, David Fenstermacher, Hyeran Sung, Christopher A. Miller, Brian Goetz, Michael C. Wendl, Obi Griffith, Lynn A. Cornelius, Gerald P. Linette, Joshua F. McMichael, Vernon K. Sondak, Ryan C. Fields, Timothy J. Ley, James J. Mulé, Richard K. Wilson, Jeffrey S. Weber

published 13 Nov 2014

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Analysis of Non-Typeable Haemophilous influenzae VapC1 Mutations Reveals Structural Features Required for Toxicity and Flexibility in the Active Site

Brooke Hamilton, Alexander Manzella, Karyn Schmidt, Victoria DiMarco, J. Scott Butler

published 12 Nov 2014

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First TILLING Platform in Cucurbita pepo: A New Mutant Resource for Gene Function and Crop Improvement

Nelly Vicente-Dólera, Christelle Troadec, Manuel Moya, Mercedes del Río-Celestino, Teresa Pomares-Viciana, Abdelhafid Bendahmane, Belén Picó, Belén Román, Pedro Gómez

published 11 Nov 2014

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Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor

Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Alexandra Soto-Ortolaza, Catherine Labbé, Carles Vilariño-Güell, Alex Rajput, Ali H. Rajput, Pau Pastor, Sara Ortega, Elena Lorenzo, Audrey J. Strongosky, Jay A. van Gerpen, Ryan J. Uitti, Zbigniew K. Wszolek, Owen A. Ross

published 06 Nov 2014

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Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice

Kenta Wada, Yoshibumi Matsushima, Tomoki Tada, Sayaka Hasegawa, Yo Obara, Yasuhiro Yoshizawa, Gou Takahashi, Hiroshi Hiai, Midori Shimanuki, Sari Suzuki, Junichi Saitou, Naoki Yamamoto, Masumi Ichikawa, Kei Watanabe, Yoshiaki Kikkawa

published 27 Oct 2014

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Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha Ghosh

published 02 Oct 2014

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New Starch Phenotypes Produced by TILLING in Barley

Francesca Sparla, Giuseppe Falini, Ermelinda Botticella, Claudia Pirone, Valentina Talamè, Riccardo Bovina, Silvio Salvi, Roberto Tuberosa, Francesco Sestili, Paolo Trost

published 01 Oct 2014

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Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

Chen Chen, Hongwei Ma, Feng Zhang, Lu Chen, Xuesha Xing, Shusen Wang, Xue Zhang, Yang Luo

published 22 Sep 2014

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Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Peiran Zhou, Yi Liu, Fang Lv, Min Nie, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li

published 19 Sep 2014

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Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood

Yini Wang, Zhao Wang, Jia Zhang, Qing Wei, Ran Tang, Junyuan Qi, Lihong Li, Liping Ye, Jijun Wang, Ling Ye

published 18 Sep 2014

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Crystal Structure of the Mineralocorticoid Receptor DNA Binding Domain in Complex with DNA

William H. Hudson, Christine Youn, Eric A. Ortlund

published 04 Sep 2014

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Functional Changes in Pulmonary Arterial Endothelial Cells Associated with BMPR2 Mutations

Hu Wang, Ruirui Ji, Jie Meng, Qiqiong Cui, Wenxin Zou, Lei Li, Guoliang Wang, Li Sun, Zhaohui Li, Lei Huo, Yuxin Fan, Daniel J. Penny

published 04 Sep 2014

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Unambiguous Detection of Multiple TP53 Gene Mutations in AAN-Associated Urothelial Cancer in Belgium Using Laser Capture Microdissection

Selda Aydin, Anne-France Dekairelle, Jérôme Ambroise, Jean-François Durant, Michel Heusterspreute, Yves Guiot, Jean-Pierre Cosyns, Jean-Luc Gala

published 03 Sep 2014

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