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Mutation

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, Carlo Cantile, Roberta Saleri, Bruno Bembi, Andrea Dardis

published 14 Nov 2014

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Protein Thermal Stability Enhancement by Designing Salt Bridges: A Combined Computational and Experimental Study

Chi-Wen Lee, Hsiu-Jung Wang, Jenn-Kang Hwang, Ching-Ping Tseng

published 13 Nov 2014

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Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

published 13 Nov 2014

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Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders

Jingrui Xing, Chenyao Wang, Hiroki Kimura, Yuto Takasaki, Shohko Kunimoto, Akira Yoshimi, Yukako Nakamura, Takayoshi Koide, Masahiro Banno, Itaru Kushima, Yota Uno, Takashi Okada, Branko Aleksic, Masashi Ikeda, Nakao Iwata, Norio Ozaki

published 13 Nov 2014

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Molecular Dynamics Studies of the Inhibitor C34 Binding to the Wild-Type and Mutant HIV-1 gp41: Inhibitory and Drug Resistant Mechanism

Xueting Ma, Jianjun Tan, Min Su, Chunhua Li, Xiaoyi Zhang, Cunxin Wang

published 13 Nov 2014

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Clonal Architectures and Driver Mutations in Metastatic Melanomas

Li Ding, Minjung Kim, Krishna L. Kanchi, Nathan D. Dees, Charles Lu, Malachi Griffith, David Fenstermacher, Hyeran Sung, Christopher A. Miller, Brian Goetz, Michael C. Wendl, Obi Griffith, Lynn A. Cornelius, Gerald P. Linette, Joshua F. McMichael, Vernon K. Sondak, Ryan C. Fields, Timothy J. Ley, James J. Mulé, Richard K. Wilson, Jeffrey S. Weber

published 13 Nov 2014

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Analysis of Non-Typeable Haemophilous influenzae VapC1 Mutations Reveals Structural Features Required for Toxicity and Flexibility in the Active Site

Brooke Hamilton, Alexander Manzella, Karyn Schmidt, Victoria DiMarco, J. Scott Butler

published 12 Nov 2014

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Revisiting Robustness and Evolvability: Evolution in Weighted Genotype Spaces

Raghavendran Partha, Karthik Raman

published 12 Nov 2014

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Somatic Mutations Favorable to Patient Survival Are Predominant in Ovarian Carcinomas

Wensheng Zhang, Andrea Edwards, Erik Flemington, Kun Zhang

published 12 Nov 2014

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Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, Justin D. Smith, Leroy Hood, L. Stephen Coles, Stuart K. Kim

published 12 Nov 2014

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Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype

Julnar Usta, Antonios Wehbeh, Khaled Rida, Omar El-Rifai, Theresa Alicia Estiphan, Tamar Majarian, Kassem Barada

published 12 Nov 2014

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First TILLING Platform in Cucurbita pepo: A New Mutant Resource for Gene Function and Crop Improvement

Nelly Vicente-Dólera, Christelle Troadec, Manuel Moya, Mercedes del Río-Celestino, Teresa Pomares-Viciana, Abdelhafid Bendahmane, Belén Picó, Belén Román, Pedro Gómez

published 11 Nov 2014

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SNaPshot Assay for the Detection of the Most Common CFTR Mutations in Infertile Men

Predrag Noveski, Svetlana Madjunkova, Marija Mircevska, Toso Plaseski, Vanja Filipovski, Dijana Plaseska-Karanfilska

published 11 Nov 2014

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