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Mutation

Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mow) and Mottled (mo) Plumage Phenotypes in the Chicken

Keiji Kinoshita, Toyoko Akiyama, Makoto Mizutani, Ai Shinomiya, Akira Ishikawa, Hassan Hassan Younis, Masaoki Tsudzuki, Takao Namikawa, Yoichi Matsuda

published 23 Jan 2014

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Deletion of Individual Ku Subunits in Mice Causes an NHEJ-Independent Phenotype Potentially by Altering Apurinic/Apyrimidinic Site Repair

Yong Jun Choi, Han Li, Mi Young Son, Xiao-hong Wang, Jamie L. Fornsaglio, Robert W. Sobol, Moonsook Lee, Jan Vijg, Sandra Imholz, Martijn E. T. Dollé, Harry van Steeg, Erwin Reiling, Paul Hasty

published 23 Jan 2014

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Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Ángel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas

published 23 Jan 2014

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Participation of Candida albicans Transcription Factor RLM1 in Cell Wall Biogenesis and Virulence

Yolanda Delgado-Silva, Catarina Vaz, Joana Carvalho-Pereira, Catarina Carneiro, Eugénia Nogueira, Alexandra Correia, Laura Carreto, Sónia Silva, Augusto Faustino, Célia Pais, Rui Oliveira, Paula Sampaio

published 23 Jan 2014

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The Molecular Basis of Conformational Instability of the Ecdysone Receptor DNA Binding Domain Studied by In Silico and In Vitro Experiments

Agnieszka Szamborska-Gbur, Grzegorz Rymarczyk, Marek Orłowski, Tomasz Kuzynowski, Michał Jakób, Agnieszka Dziedzic-Letka, Andrzej Górecki, Piotr Dobryszycki, Andrzej Ożyhar

published 23 Jan 2014

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Genetic Polymorphism Characteristics of Brucella canis Isolated in China

Dongdong Di, Buyun Cui, Heng Wang, Hongyan Zhao, Dongri Piao, Lili Tian, Guozhong Tian, Jingli Kang, Xiang Mao, Xiaojun Zhang, Pengfei Du, Lin Zhu, Zhuo Zhao, Lingling Mao, Wenqing Yao, Pingyuan Guan, Weixing Fan, Hai Jiang

published 23 Jan 2014

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Integrative Genetic Characterization and Phenotype Correlations in Pheochromocytoma and Paraganglioma Tumours

Joakim Crona, Margareta Nordling, Rajani Maharjan, Dan Granberg, Peter Stålberg, Per Hellman, Peyman Björklund

published 22 Jan 2014

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Population Level Analysis of Evolved Mutations Underlying Improvements in Plant Hemicellulose and Cellulose Fermentation by Clostridium phytofermentans

Supratim Mukherjee, Lynmarie K. Thompson, Stephen Godin, Wendy Schackwitz, Anna Lipzen, Joel Martin, Jeffrey L. Blanchard

published 22 Jan 2014

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Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M. E. Tallaksen, Charalampos Tzoulis

published 22 Jan 2014

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The Interaction between Selection, Demography and Selfing and How It Affects Population Viability

Diala Abu Awad, Sophie Gallina, Cyrille Bonamy, Sylvain Billiard

published 21 Jan 2014

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p120RasGAP Is a Mediator of Rho Pathway Activation and Tumorigenicity in the DLD1 Colorectal Cancer Cell Line

Shawna L. Organ, Josephine Hai, Nikolina Radulovich, Christopher B. Marshall, Lisa Leung, Takehiko Sasazuki, Senji Shirasawa, Chang-Qi Zhu, Roya Navab, Mitsuhiko Ikura, Ming-Sound Tsao

published 21 Jan 2014

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A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects

Thomas Ricketts, Philip McGoldrick, Pietro Fratta, Hugo M. de Oliveira, Rosie Kent, Vinaya Phatak, Sebastian Brandner, Gonzalo Blanco, Linda Greensmith, Abraham Acevedo-Arozena, Elizabeth M. C. Fisher

published 21 Jan 2014

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LIM Domain Only-2 (LMO2) Induces T-Cell Leukemia by Two Distinct Pathways

Stephen Smith, Rati Tripathi, Charnise Goodings, Susan Cleveland, Elizabeth Mathias, J. Andrew Hardaway, Natalina Elliott, Yajun Yi, Xi Chen, James Downing, Charles Mullighan, Deborah A. Swing, Lino Tessarollo, Liqi Li, Paul Love, Nancy A. Jenkins, Neal G. Copeland, Mary Ann Thompson, Yang Du, Utpal P. Davé

published 21 Jan 2014

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