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Point mutation

The Threonine Protease Activity of Testes-Specific Protease 50 (TSP50) Is Essential for Its Function in Cell Proliferation

Yu-Yin Li, Yong-Li Bao, Zhen-Bo Song, Lu-Guo Sun, Ping Wu, Yu Zhang, Cong Fan, Yan-Xin Huang, Yin Wu, Chun-Lei Yu, Ying Sun, Li-Hua Zheng, Guan-Nan Wang, Yu-Xin Li

published 04 May 2012

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Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus

Nina Danilenko, Elena Merkulava, Marina Siniauskaya, Olga Olejnik, Anastasia Levaya-Smaliak, Alena Kushniarevich, Andrey Shymkevich, Oleg Davydenko

published 02 May 2012

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Disrupting the Acyl Carrier Protein/SpoT Interaction In Vivo: Identification of ACP Residues Involved in the Interaction and Consequence on Growth

Sandra Angelini, Laetitia My, Emmanuelle Bouveret

published 30 Apr 2012

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Allele Specific Locked Nucleic Acid Quantitative PCR (ASLNAqPCR): An Accurate and Cost-Effective Assay to Diagnose and Quantify KRAS and BRAF Mutation

Luca Morandi, Dario de Biase, Michela Visani, Valentina Cesari, Giovanna De Maglio, Stefano Pizzolitto, Annalisa Pession, Giovanni Tallini

published 30 Apr 2012

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Mutational Analysis of the Cyanobacterial Nitrogen Regulator PipX

Karim Boumediene Laichoubi, Javier Espinosa, Miguel Angel Castells, Asunción Contreras

published 30 Apr 2012

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CRISPR Interference Directs Strand Specific Spacer Acquisition

Daan C. Swarts, Cas Mosterd, Mark W. J. van Passel, Stan J. J. Brouns

published 27 Apr 2012

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A Novel Role for the GTPase-Activating Protein Bud2 in the Spindle Position Checkpoint

Scott A. Nelson, Anthony M. Sanson, Hay-Oak Park, John A. Cooper

published 25 Apr 2012

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Ets-1 Is Essential for Connective Tissue Growth Factor (CTGF/CCN2) Induction by TGF-β1 in Osteoblasts

Max T. Geisinger, Randy Astaiza, Tiffany Butler, Steven N. Popoff, Sonia Lobo Planey, John A. Arnott

published 23 Apr 2012

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Interaction of the Transcription Start Site Core Region and Transcription Factor YY1 Determine Ascorbate Transporter SVCT2 Exon 1a Promoter Activity

Huan Qiao, James M. May

published 20 Apr 2012

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Characterization of the Modes of Binding between Human Sweet Taste Receptor and Low-Molecular-Weight Sweet Compounds

Katsuyoshi Masuda, Ayako Koizumi, Ken-ichiro Nakajima, Takaharu Tanaka, Keiko Abe, Takumi Misaka, Masaji Ishiguro

published 20 Apr 2012

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Routine Multiplex Mutational Profiling of Melanomas Enables Enrollment in Genotype-Driven Therapeutic Trials

Christine M. Lovly, Kimberly Brown Dahlman, Laurel E. Fohn, Zengliu Su, Dora Dias-Santagata, Donna J. Hicks, Donald Hucks, Elizabeth Berry, Charles Terry, MarKeesa Duke, Yingjun Su, Tammy Sobolik-Delmaire, Ann Richmond, Mark C. Kelley, Cindy L. Vnencak-Jones, A. John Iafrate, Jeffrey Sosman, William Pao

published 20 Apr 2012

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Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Julia Zimmer, Sandra C. Doelken, Denise Horn, Jay C. Groppe, Eileen M. Shore, Frederick S. Kaplan, Petra Seemann

published 18 Apr 2012

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Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

Kristoffer Søberg, Anja C. V. Larsen, Mandy Diskar, Paul H. Backe, Magnar Bjørås, Tore Jahnsen, Jon K. Laerdahl, Torbjørn Rognes, Friedrich W. Herberg, Bjørn S. Skålhegg

published 13 Apr 2012

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