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Point mutation

The Evolutionary History of Amino Acid Variations Mediating Increased Resistance of S. aureus Identifies Reversion Mutations in Metabolic Regulators

Mia D. Champion, Vanessa Gray, Carl Eberhard, Sudhir Kumar

published 12 Feb 2013

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Sensitive Detection of Pre-Existing BCR-ABL Kinase Domain Mutations in CD34+ Cells of Newly Diagnosed Chronic-Phase Chronic Myeloid Leukemia Patients Is Associated with Imatinib Resistance: Implications in the Post-Imatinib Era

Zafar Iqbal, Aamer Aleem, Mudassar Iqbal, Mubashar Iqbal Naqvi, Ammara Gill, Abid Sohail Taj, Abdul Qayyum, Najeeb ur-Rehman, Ahmad Mukhtar Khalid, Ijaz Hussain Shah, Muhammad Khalid, Riazul Haq, Mahwish Khan, Shahid Mahmood Baig, Abid Jamil, Muhammad Naeem Abbas, Muhammad Absar, Amer Mahmood, Mahmood Rasool, Tanveer Akhtar

published 08 Feb 2013

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Multiple Genetic Alterations within the PI3K Pathway Are Responsible for AKT Activation in Patients with Ovarian Carcinoma

Carmela De Marco, Nicola Rinaldo, Paola Bruni, Carmine Malzoni, Fulvio Zullo, Fernanda Fabiani, Simona Losito, Marianna Scrima, Federica Zito Marino, Renato Franco, Alfina Quintiero, Valter Agosti, Giuseppe Viglietto

published 07 Feb 2013

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CCAAT/Enhancer Binding Protein β (C/EBPβ) Isoforms as Transcriptional Regulators of the Pro-Invasive CDH3/P-Cadherin Gene in Human Breast Cancer Cells

André Albergaria, Carlos Resende, Ana Rita Nobre, Ana Sofia Ribeiro, Bárbara Sousa, José Carlos Machado, Raquel Seruca, Joana Paredes, Fernando Schmitt

published 06 Feb 2013

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A High-Dimensional, Deep-Sequencing Study of Lung Adenocarcinoma in Female Never-Smokers

Sang Cheol Kim, Yeonjoo Jung, Jinah Park, Sooyoung Cho, Chaehwa Seo, Jaesang Kim, Pora Kim, Jehwan Park, Jihae Seo, Jiwoong Kim, Seongjin Park, Insu Jang, Namshin Kim, Jin Ok Yang, Byungwook Lee, Kyoohyoung Rho, Yeonhwa Jung, Juhee Keum, Jinseon Lee, Jungho Han, Sangeun Kang, Sujin Bae, So-Jung Choi, Sujin Kim, Jong-Eun Lee, Wankyu Kim, Jhingook Kim, Sanghyuk Lee

published 06 Feb 2013

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Relationship between Knockdown Resistance, Metabolic Detoxification and Organismal Resistance to Pyrethroids in Anopheles sinensis

Daibin Zhong, Xuelian Chang, Guofa Zhou, Zhengbo He, Fengyang Fu, Zhentian Yan, Guoding Zhu, Tielong Xu, Mariangela Bonizzoni, Mei-Hui Wang, Liwang Cui, Bin Zheng, Bin Chen, Guiyun Yan

published 06 Feb 2013

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Nanopore Analysis of Wild-Type and Mutant Prion Protein (PrP^C): Single Molecule Discrimination and PrP^C Kinetics

Nahid N. Jetha, Valentyna Semenchenko, David S. Wishart, Neil R. Cashman, Andre Marziali

published 05 Feb 2013

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Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

Nellie Y. Loh, Liz Bentley, Henrik Dimke, Sjoerd Verkaart, Paolo Tammaro, Caroline M. Gorvin, Michael J. Stechman, Bushra N. Ahmad, Fadil M. Hannan, Sian E. Piret, Holly Evans, Ilaria Bellantuono, Tertius A. Hough, William D. Fraser, Joost G. J. Hoenderop, Frances M. Ashcroft, Steve D. M. Brown, René J. M. Bindels, Roger D. Cox, Rajesh V. Thakker

published 30 Jan 2013

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A CRM1-Mediated Nuclear Export Signal Is Essential for Cytoplasmic Localization of Neurogenin 3 in Neurons

Julia Simon-Areces, Estefania Acaz-Fonseca, Isabel Ruiz-Palmero, Luis-Miguel Garcia-Segura, Maria-Angeles Arevalo

published 30 Jan 2013

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A Novel Trans Conformation of Ligand-Free Calmodulin

Veerendra Kumar, Vishnu Priyanka Reddy Chichili, Xuhua Tang, J. Sivaraman

published 29 Jan 2013

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A Telomerase Immortalized Human Proximal Tubule Cell Line with a Truncation Mutation (Q4004X) in Polycystin-1

Brittney-Shea Herbert, Brenda R. Grimes, Wei Min Xu, Michael Werner, Christopher Ward, Sandro Rossetti, Peter Harris, Elsa Bello-Reuss, Heather H. Ward, Caroline Miller, Vincent H. Gattone II, Carrie L. Phillips, Angela Wandinger-Ness, Robert L. Bacallao

published 28 Jan 2013

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Detection of Low-Abundance KRAS Mutations in Colorectal Cancer Using Microfluidic Capillary Electrophoresis-Based Restriction Fragment Length Polymorphism Method with Optimized Assay Conditions

Huidan Zhang, Jin Song, Hui Ren, Zhangrun Xu, Xiaonan Wang, Lianfeng Shan, Jin Fang

published 23 Jan 2013

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Allelic Expression Imbalance of JAK2 V617F Mutation in BCR-ABL Negative Myeloproliferative Neoplasms

Hye-Ran Kim, Hyun-Jung Choi, Yeo-Kyeoung Kim, Hyeoung-Joon Kim, Jong-Hee Shin, Soon-Pal Suh, Dong-Wook Ryang, Myung-Geun Shin

published 22 Jan 2013

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