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Mutation

Insights from Molecular Dynamics Simulations: Structural Basis for the V567D Mutation-Induced Instability of Zebrafish Alpha-Dystroglycan and Comparison with the Murine Model

Davide Pirolli, Francesca Sciandra, Manuela Bozzi, Bruno Giardina, Andrea Brancaccio, Maria Cristina De Rosa

published 31 Jul 2014

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Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Ming-Yu Han, Jing-Qiao Lu, Hui Zhao, Fei Yu, Jin-Cao Xu, Mei-Guang Zhang, Jiang Dong, Xi Lin, Pu Dai

published 31 Jul 2014

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Development and Validation of a Fast and Optimized Screening Method for Enhanced Production of Secondary Metabolites Using the Marine Scopulariopsis brevicaulis Strain LF580 Producing Anti-Cancer Active Scopularide A and B

Annemarie Kramer, Linda Paun, Johannes F. Imhoff, Frank Kempken, Antje Labes

published 31 Jul 2014

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Distribution and Frequency of kdr Mutations within Anopheles gambiae s.l. Populations and First Report of the Ace.1G119S Mutation in Anopheles arabiensis from Burkina Faso (West Africa)

Roch K. Dabiré, Moussa Namountougou, Abdoulaye Diabaté, Dieudonné D. Soma, Joseph Bado, Hyacinthe K. Toé, Chris Bass, Patrice Combary

published 31 Jul 2014

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Rational Modification of Estrogen Receptor by Combination of Computational and Experimental Analysis

Valentina Elisabetta Viviana Ferrero, Mattia Pedotti, Alessandro Chiadò, Luca Simonelli, Luigi Calzolai, Luca Varani, Teresa Lettieri

published 30 Jul 2014

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Blocking Phosphatidylcholine Utilization in Pseudomonas aeruginosa, via Mutagenesis of Fatty Acid, Glycerol and Choline Degradation Pathways, Confirms the Importance of This Nutrient Source In Vivo

Zhenxin Sun, Yun Kang, Michael H. Norris, Ryan M. Troyer, Mike S. Son, Herbert P. Schweizer, Steven W. Dow, Tung T. Hoang

published 28 Jul 2014

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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, Melania Moreno, Laura Torres, Gonzalo Santana-Lopez, Carlos Rodriguez-Medina, María Perera, Beatriz Bellosillo, Silvia de la Iglesia, Teresa Molero, Maria Teresa Gomez-Casares

published 28 Jul 2014

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Identification of Novel GRM1 Mutations and Single Nucleotide Polymorphisms in Prostate Cancer Cell Lines and Tissues

Shafat Ali, Mojgan Shourideh, Shahriar Koochekpour

published 25 Jul 2014

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LITAF Mutations Associated with Charcot-Marie-Tooth Disease 1C Show Mislocalization from the Late Endosome/Lysosome to the Mitochondria

Andressa Ferreira Lacerda, Emily Hartjes, Craig R. Brunetti

published 24 Jul 2014

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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Petros Kountouris, Carsten W. Lederer, Pavlos Fanis, Xenia Feleki, John Old, Marina Kleanthous

published 24 Jul 2014

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PIK3CA Gene Mutations and Overexpression: Implications for Prognostic Biomarker and Therapeutic Target in Chinese Esophageal Squamous Cell Carcinoma

Lin Wang, Ling Shan, Shaokai Zhang, Jianming Ying, Liyan Xue, Yanling Yuan, Yongqiang Xie, Ning Lu

published 23 Jul 2014

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Mining TCGA Data Using Boolean Implications

Subarna Sinha, Emily K. Tsang, Haoyang Zeng, Michela Meister, David L. Dill

published 23 Jul 2014

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Characterization of a Novel BCHE “Silent” Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium

Herve Delacour, Sofya Lushchekina, Isabelle Mabboux, Aurore Bousquet, Franck Ceppa, Lawrence M. Schopfer, Oksana Lockridge, Patrick Masson

published 23 Jul 2014

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