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Substitution mutation

Characterization of Novel MSX1 Mutations Identified in Japanese Patients with Nonsyndromic Tooth Agenesis

Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata, Tadashi Tatematsu, Hitoshi Miyachi, Yujiro Higashi, Peter Jezewski, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita

published 07 Aug 2014

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Multidrug Resistant Mycobacterium tuberculosis: A Retrospective katG and rpoB Mutation Profile Analysis in Isolates from a Reference Center in Brazil

Flávia A. D. de Freitas, Vagner Bernardo, Michel K. Gomgnimbou, Christophe Sola, Hélio R. Siqueira, Márcia A. S. Pereira, Fátima C. O. Fandinho, Harrison M. Gomes, Marcelo E. I. Araújo, Philip N. Suffys, Elizabeth A. Marques, Rodolpho M. Albano

published 05 Aug 2014

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Engineering Neprilysin Activity and Specificity to Create a Novel Therapeutic for Alzheimer’s Disease

Carl I. Webster, Matthew Burrell, Lise-Lotte Olsson, Susan B. Fowler, Sarah Digby, Alan Sandercock, Arjan Snijder, Jan Tebbe, Ulrich Haupts, Joanna Grudzinska, Lutz Jermutus, Christin Andersson

published 04 Aug 2014

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The Influence of Pathological Mutations and Proline Substitutions in TDP-43 Glycine-Rich Peptides on Its Amyloid Properties and Cellular Toxicity

Chia-Sui Sun, Cindy Yu-Hsiang Wang, Bryan Po-Wen Chen, Ruei-Yu He, Gerard Chun-Hao Liu, Chih-Hsien Wang, Wenlung Chen, Yijuang Chern, Joseph Jen-Tse Huang

published 04 Aug 2014

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An Animal Model of Type A Cystinuria Due to Spontaneous Mutation in 129S2/SvPasCrl Mice

Marine Livrozet, Sophie Vandermeersch, Laurent Mesnard, Elizabeth Thioulouse, Jean Jaubert, Jean-Jacques Boffa, Jean-Philippe Haymann, Laurent Baud, Dominique Bazin, Michel Daudon, Emmanuel Letavernier

published 21 Jul 2014

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A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

Xuchen Ding, Nan Zhou, Hui Lin, Jianjun Chen, Chunyuan Zhao, Guangkai Zhou, J. Fielding Hejtmancik, Yanhua Qi

published 17 Jul 2014

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Fluoroquinolone Resistance Mechanisms of Shigella flexneri Isolated in Bangladesh

Ishrat J. Azmi, Bijay K. Khajanchi, Fatema Akter, Trisheeta N. Hasan, Mohammad Shahnaij, Mahmuda Akter, Atanu Banik, Halima Sultana, Mohammad A. Hossain, Mohammad K. Ahmed, Shah M. Faruque, Kaisar A. Talukder

published 16 Jul 2014

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Functional and Molecular Surveillance of Helicobacter pylori Antibiotic Resistance in Kuala Lumpur

Xinsheng Teh, Yalda Khosravi, Woon Ching Lee, Alex Hwong Ruey Leow, Mun Fai Loke, Jamuna Vadivelu, Khean Lee Goh

published 08 Jul 2014

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Impact of Nox5 Polymorphisms on Basal and Stimulus-Dependent ROS Generation

Yusi Wang, Feng Chen, Brian Le, David W. Stepp, David J. R. Fulton

published 03 Jul 2014

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Adaptation to Fluctuating Temperatures in an RNA Virus Is Driven by the Most Stringent Selective Pressure

María Arribas, Kirina Kubota, Laura Cabanillas, Ester Lázaro

published 25 Jun 2014

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Orange Fluorescent Proteins: Structural Studies of LSSmOrange, PSmOrange and PSmOrange2

Sergei Pletnev, Daria M. Shcherbakova, Oksana M. Subach, Nadya V. Pletneva, Vladimir N. Malashkevich, Steven C. Almo, Zbigniew Dauter, Vladislav V. Verkhusha

published 24 Jun 2014

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A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head

Na Li, Jian Yu, Xiang Cao, Qiu-Yue Wu, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xiao-Jun Li, Zhi-Min Yin, Xin-Yi Xia

published 20 Jun 2014

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Screening for Streptomycin Resistance-Conferring Mutations in Mycobacterium tuberculosis Clinical Isolates from Poland

Tomasz Jagielski, Helena Ignatowska, Zofia Bakuła, Łukasz Dziewit, Agnieszka Napiórkowska, Ewa Augustynowicz-Kopeć, Zofia Zwolska, Jacek Bielecki

published 17 Jun 2014

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