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Mutation

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

Jasmine Lim, Geoffrey J. Maher, Gareth D. H. Turner, Wioleta Dudka-Ruszkowska, Stephen Taylor, Ewa Rajpert-De Meyts, Anne Goriely, Andrew O. M. Wilkie

published 06 Aug 2012

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WSC-1 and HAM-7 Are MAK-1 MAP Kinase Pathway Sensors Required for Cell Wall Integrity and Hyphal Fusion in Neurospora crassa

Abhiram Maddi, Anne Dettman, Ci Fu, Stephan Seiler, Stephen J. Free

published 03 Aug 2012

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Comparative Transcriptomics of H. pylori Strains AM5, SS1 and Their hpyAVIBM Deletion Mutants: Possible Roles of Cytosine Methylation

Ritesh Kumar, Asish K. Mukhopadhyay, Prachetash Ghosh, Desirazu N. Rao

published 03 Aug 2012

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Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli

published 03 Aug 2012

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An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono

published 03 Aug 2012

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High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations

Chi Hoon Maeng, Jeeyun Lee, Paul van Hummelen, Se Hoon Park, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Laura MacConaill, Kyoung-Mee Kim, Young-Mog Shim

published 03 Aug 2012

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Isoform-Specific Dominant-Negative Effects Associated with hERG1 G628S Mutation in Long QT Syndrome

Matthew R. Stump, Qiuming Gong, Zhengfeng Zhou

published 02 Aug 2012

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An Orphan Chemotaxis Sensor Regulates Virulence and Antibiotic Tolerance in the Human Pathogen Pseudomonas aeruginosa

Heather Pearl McLaughlin, Delphine L. Caly, Yvonne McCarthy, Robert Patrick Ryan, John Maxwell Dow

published 01 Aug 2012

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SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker

published 01 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Yeasts Acquire Resistance Secondary to Antifungal Drug Treatment by Adaptive Mutagenesis

David Quinto-Alemany, Ana Canerina-Amaro, Luís G. Hernández-Abad, Félix Machín, Floyd E. Romesberg, Cristina Gil-Lamaignere

published 31 Jul 2012

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Contribution of the Staphylococcus aureus Atl AM and GL Murein Hydrolase Activities in Cell Division, Autolysis, and Biofilm Formation

Jeffrey L. Bose, McKenzie K. Lehman, Paul D. Fey, Kenneth W. Bayles

published 31 Jul 2012

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Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, Sung-Kook Hong, Kshitij Srivastava, Blake Carrington, Raman Sood, Hanna Petrykowska, Laura Elnitski, Lucilene A. Ribeiro, Antonio Richieri-Costa, Benjamin Feldman, Ward F. Odenwald, Maximilian Muenke

published 31 Jul 2012

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