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Nonsense mutation

Suppression of Hepcidin Expression and Iron Overload Mediate Salmonella Susceptibility in Ankyrin 1 ENU-Induced Mutant

Kyoko E. Yuki, Megan M. Eva, Etienne Richer, Dudley Chung, Marilène Paquet, Mathieu Cellier, François Canonne-Hergaux, Sophie Vaulont, Silvia M. Vidal, Danielle Malo

published 04 Feb 2013

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Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

Hui Liu, Stéphanie Chatel, Christophe Simard, Ninda Syam, Laurent Salle, Vincent Probst, Julie Morel, Gilles Millat, Michel Lopez, Hugues Abriel, Jean-Jacques Schott, Romain Guinamard, Patrice Bouvagnet

published 30 Jan 2013

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Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

Jingyin Yue, Huimei Lu, Shijie Lan, Jingmei Liu, Mark N. Stein, Bruce G. Haffty, Zhiyuan Shen

published 25 Jan 2013

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The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

published 23 Jan 2013

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Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle

Tad S. Sonstegard, John B. Cole, Paul M. VanRaden, Curtis P. Van Tassell, Daniel J. Null, Steven G. Schroeder, Derek Bickhart, Matthew C. McClure

published 22 Jan 2013

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Plexin A3 and Turnout Regulate Motor Axonal Branch Morphogenesis in Zebrafish

Rajiv Sainath, Michael Granato

published 21 Jan 2013

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Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors

Xi-De Wang, Hector Inzunza, Han Chang, Zhenhao Qi, Beihong Hu, Daniel Malone, John Cogswell

published 18 Jan 2013

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A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

published 08 Jan 2013

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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I. den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P. M. Cremers, Roser Gonzalez-Duarte, Robert K. Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

published 07 Jan 2013

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Exome Capture Sequencing of Adenoma Reveals Genetic Alterations in Multiple Cellular Pathways at the Early Stage of Colorectal Tumorigenesis

Donger Zhou, Liu Yang, Liangtao Zheng, Weiting Ge, Dan Li, Yong Zhang, Xueda Hu, Zhibo Gao, Jinghong Xu, Yanqin Huang, Hanguang Hu, Hang Zhang, Hao Zhang, Mingming Liu, Huanming Yang, Lei Zheng, Shu Zheng

published 02 Jan 2013

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Structure of the TPR Domain of AIP: Lack of Client Protein Interaction with the C-Terminal α-7 Helix of the TPR Domain of AIP Is Sufficient for Pituitary Adenoma Predisposition

Rhodri M. L. Morgan, Laura C. Hernández-Ramírez, Giampaolo Trivellin, Lihong Zhou, S. Mark Roe, Márta Korbonits, Chrisostomos Prodromou

published 31 Dec 2012

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First WNK4-Hypokalemia Animal Model Identified by Genome-Wide Association in Burmese Cats

Barbara Gandolfi, Timothy J. Gruffydd-Jones, Richard Malik, Alejandro Cortes, Boyd R. Jones, Chris R. Helps, Eva M. Prinzenberg, George Erhardt, Leslie A. Lyons

published 28 Dec 2012

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How the Leopard Hides Its Spots: ASIP Mutations and Melanism in Wild Cats

Alexsandra Schneider, Victor A. David, Warren E. Johnson, Stephen J. O'Brien, Gregory S. Barsh, Marilyn Menotti-Raymond, Eduardo Eizirik

published 12 Dec 2012

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