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Deletion mutation

Novel ATPase Cu²⁺ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Shaojuan Gu, Huarong Yang, Yong Qi, Xiong Deng, Le Zhang, Yi Guo, Qing Huang, Jing Li, Xiaoliu Shi, Zhi Song, Hao Deng

published 02 Jul 2013

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A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome

Sven Zumhagen, Marieke W. Veldkamp, Birgit Stallmeyer, Antonius Baartscheer, Lars Eckardt, Matthias Paul, Carol Ann Remme, Zahurul A. Bhuiyan, Connie R. Bezzina, Eric Schulze-Bahr

published 28 Jun 2013

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Selecting Tyrosine Kinase Inhibitors for Gastrointestinal Stromal Tumor with Secondary KIT Activation-Loop Domain Mutations

Yuan-Shuo Hsueh, Chih-Lung Lin, Nai-Jung Chiang, Chueh-Chuan Yen, Chien-Feng Li, Yan-Shen Shan, Ching-Huai Ko, Neng-Yao Shih, Ling-Mei Wang, Ting-Shou Chen, Li-Tzong Chen

published 20 Jun 2013

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Evolution of a Higher Intracellular Oxidizing Environment in Caenorhabditis elegans under Relaxed Selection

Joanna Joyner-Matos, Kiley A. Hicks, Dustin Cousins, Michelle Keller, Dee R. Denver, Charles F. Baer, Suzanne Estes

published 11 Jun 2013

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The Relative Timing of Mutations in a Breast Cancer Genome

Scott Newman, Karen D. Howarth, Chris D. Greenman, Graham R. Bignell, Simon Tavaré, Paul A. W. Edwards

published 10 Jun 2013

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Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

Sébastien Fritz, Aurelien Capitan, Anis Djari, Sabrina C. Rodriguez, Anne Barbat, Aurélia Baur, Cécile Grohs, Bernard Weiss, Mekki Boussaha, Diane Esquerré, Christophe Klopp, Dominique Rocha, Didier Boichard

published 07 Jun 2013

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Experimental Evolution Reveals Genome-Wide Spectrum and Dynamics of Mutations in the Rice Blast Fungus, Magnaporthe oryzae

Junhyun Jeon, Jaeyoung Choi, Gir-Won Lee, Ralph A. Dean, Yong-Hwan Lee

published 31 May 2013

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Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami

published 23 May 2013

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Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing

Sae-Won Han, Hwang-Phill Kim, Jong-Yeon Shin, Eun-Goo Jeong, Won-Chul Lee, Kyung-Hun Lee, Jae-Kyung Won, Tae-Yong Kim, Do-Youn Oh, Seock-Ah Im, Yung-Jue Bang, Seung-Yong Jeong, Kyu Joo Park, Jae-Gahb Park, Gyeong Hoon Kang, Jeong-Sun Seo, Jong-Il Kim, Tae-You Kim

published 21 May 2013

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Tumor Necrosis Factor-α and Lymphotoxin-α Mediate Myocardial Ischemic Injury via TNF Receptor 1, but Are Cardioprotective When Activating TNF Receptor 2

Yanqing Zhang, Jianli Zhao, Wayne Bond Lau, Li-Yuan Jiao, Baojiang Liu, Yuexing Yuan, Xiaoliang Wang, Erhe Gao, Walter J. Koch, Xin-Liang Ma, Yajing Wang

published 21 May 2013

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Identification of the Causative Gene for Simmental Arachnomelia Syndrome Using a Network-Based Disease Gene Prioritization Approach

Shihui Jiao, Qin Chu, Yachun Wang, Zhenquan Xie, Shiyu Hou, Airong Liu, Hongjun Wu, Lin Liu, Fanjun Geng, Congyong Wang, Chunhua Qin, Rui Tan, Xixia Huang, Shixin Tan, Meng Wu, Xianzhou Xu, Xuan Liu, Ying Yu, Yuan Zhang

published 16 May 2013

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Activating Mutations in Protein Tyrosine Phosphatase Ptpn11 (Shp2) Enhance Reactive Oxygen Species Production That Contributes to Myeloproliferative Disorder

Dan Xu, Hong Zheng, Wen-Mei Yu, Cheng-Kui Qu

published 10 May 2013

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Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K_ATP Gain of Channel Activity and Loss of Channel Expression

Yu-Wen Lin, Anlong Li, Valeria Grasso, Domenica Battaglia, Antonino Crinò, Carlo Colombo, Fabrizio Barbetti, Colin G. Nichols

published 07 May 2013

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