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Mutation

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

Xiao Huang, Shen Shen, Dongsheng Fan

published 26 Jan 2017

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The Influence of BRAF and KRAS Mutation Status on the Association between Aspirin Use and Survival after Colon Cancer Diagnosis

Martine A. Frouws, Marlies S. Reimers, Marloes Swets, Esther Bastiaannet, Bianca Prinse, Ronald van Eijk, Valery E. P. P. Lemmens, Myrthe P. P. van Herk-Sukel, Tom van Wezel, Peter J. K. Kuppen, Hans Morreau, Cornelis J. H. van de Velde, Gerrit-Jan Liefers

published 26 Jan 2017

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Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells

Martin Dahl-Halvarsson, Malgorzata Pokrzywa, Manish Rauthan, Marc Pilon, Homa Tajsharghi

published 26 Jan 2017

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The Number of Overlapping AID Hotspots in Germline IGHV Genes Is Inversely Correlated with Mutation Frequency in Chronic Lymphocytic Leukemia

Chaohui Yuan, Charles C. Chu, Xiao-Jie Yan, Davide Bagnara, Nicholas Chiorazzi, Thomas MacCarthy

published 26 Jan 2017

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YvqE and CovRS of Group A Streptococcus Play a Pivotal Role in Viability and Phenotypic Adaptations to Multiple Environmental Stresses

Amonrattana Roobthaisong, Chihiro Aikawa, Takashi Nozawa, Fumito Maruyama, Ichiro Nakagawa

published 25 Jan 2017

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Genetic Polymorphisms and Phenotypic Profiles of Sulfadiazine-Resistant and Sensitive Toxoplasma gondii Isolates Obtained from Newborns with Congenital Toxoplasmosis in Minas Gerais, Brazil

Letícia Azevedo Silva, João Luís Reis-Cunha, Daniella Castanheira Bartholomeu, Ricardo Wagner Almeida Vítor

published 24 Jan 2017

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A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function

Lin Cong, Yong Cheng, Niamh X. Cawley, Saravana R. K. Murthy, Y. Peng Loh

published 23 Jan 2017

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Superior Multiplexing Capacity of PlexPrimers Enables Sensitive and Specific Detection of SNPs and Clustered Mutations in qPCR

Lit Yeen Tan, Samantha Michelle Walker, Tina Lonergan, Nicole Elizabeth Lima, Alison Velyian Todd, Elisa Mokany

published 23 Jan 2017

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Characterization of the Drug Resistance Profiles of Patients Infected with CRF07_BC Using Phenotypic Assay and Ultra-Deep Pyrosequencing

Szu-Wei Huang, Wei-You Li, Wen-Hung Wang, Yu-Ting Lin, Chih-Hung Chou, Marcelo Chen, Hsien-Da Huang, Yen-Hsu Chen, Po-Liang Lu, Sheng-Fan Wang, Shinichi Oka, Yi-Ming Arthur Chen

published 20 Jan 2017

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Changes in Molecular Characteristics of Mycoplasma pneumoniae in Clinical Specimens from Children in Beijing between 2003 and 2015

Hongmei Sun, Guanhua Xue, Chao Yan, Shaoli Li, Hanqing Zhao, Yanling Feng, Liqiong Wang

published 20 Jan 2017

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Upon Accounting for the Impact of Isoenzyme Loss, Gene Deletion Costs Anticorrelate with Their Evolutionary Rates

Christopher Jacobs, Luke Lambourne, Yu Xia, Daniel Segrè

published 20 Jan 2017

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Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Masaya Tsuboi, Manabu Watanabe, Kazumi Nibe, Natsuko Yoshimi, Akihisa Kato, Masahiro Sakaguchi, Osamu Yamato, Miyuu Tanaka, Mitsuru Kuwamura, Kazuya Kushida, Takashi Ishikura, Tomoyuki Harada, James Kenn Chambers, Sumio Sugano, Kazuyuki Uchida, Hiroyuki Nakayama

published 20 Jan 2017

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Active Hydrogen Bond Network (AHBN) and Applications for Improvement of Thermal Stability and pH-Sensitivity of Pullulanase from Bacillus naganoensis

Qing-Yan Wang, Neng-Zhong Xie, Qi-Shi Du, Yan Qin, Jian-Xiu Li, Jian-Zong Meng, Ri-Bo Huang

published 19 Jan 2017

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