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Mutation

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

Marjolijn Renard, Bram Trachet, Christophe Casteleyn, Laurence Campens, Pieter Cornillie, Bert Callewaert, Steven Deleye, Bert Vandeghinste, Paula M. van Heijningen, Harry Dietz, Filip De Vos, Jeroen Essers, Steven Staelens, Patrick Segers, Bart Loeys, Paul Coucke, Anne De Paepe, Julie De Backer

published 24 Feb 2014

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Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Lucie Grodecká, Pavla Lockerová, Barbora Ravčuková, Emanuele Buratti, Francisco E. Baralle, Ladislav Dušek, Tomáš Freiberger

published 21 Feb 2014

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Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

Zhan-Hui Zhang, Wei-Xia Lin, Mei Deng, Shu-Tao Zhao, Han-Shi Zeng, Feng-Ping Chen, Yuan-Zong Song

published 21 Feb 2014

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A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Yu Su, Wen-Xue Tang, Xue Gao, Fei Yu, Zhi-Yao Dai, Jian-Dong Zhao, Yu Lu, Fei Ji, Sha-Sha Huang, Yong-Yi Yuan, Ming-Yu Han, Yue-Shuai Song, Yu-Hua Zhu, Dong-Yang Kang, Dong-Yi HAN, Pu Dai

published 21 Feb 2014

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A Population Survey of the Glucose-6-Phosphate Dehydrogenase (G6PD) 563C>T (Mediterranean) Mutation in Afghanistan

Natsuda Jamornthanyawat, Ghulam R. Awab, Naowarat Tanomsing, Sasithon Pukrittayakamee, Fazel Yamin, Arjen M. Dondorp, Nicholas P. J. Day, Nicholas J. White, Charles J. Woodrow, Mallika Imwong

published 21 Feb 2014

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Comparative In Vivo Analysis of Recombinant Type II Feline Coronaviruses with Truncated and Completed ORF3 Region

Ádám Bálint, Attila Farsang, Zoltán Zádori, Sándor Belák

published 20 Feb 2014

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V3-Independent Competitive Resistance of a Dual-X4 HIV-1 to the CXCR4 Inhibitor AMD3100

Yosuke Maeda, Hiromi Terasawa, Yusuke Nakano, Kazuaki Monde, Keisuke Yusa, Shinichi Oka, Masafumi Takiguchi, Shinji Harada

published 19 Feb 2014

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FBXW7 Mutations in Patients with Advanced Cancers: Clinical and Molecular Characteristics and Outcomes with mTOR Inhibitors

Denis L. Jardim, Jennifer J. Wheler, Kenneth Hess, Apostolia M. Tsimberidou, Ralph Zinner, Filip Janku, Vivek Subbiah, Aung Naing, Sarina A. Piha-Paul, Shannon N. Westin, Sinchita Roy-Chowdhuri, Funda Meric-Bernstam, David S. Hong

published 19 Feb 2014

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Characteristics of HIV-1 Natural Drug Resistance-Associated Mutations in Former Paid Blood Donors in Henan Province, China

Yi Bao, Di Tian, Ying-Ying Zheng, Hong-Li Xi, Dan Liu, Min Yu, Xiao-Yuan Xu

published 19 Feb 2014

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Mouse Models for Pseudoxanthoma Elasticum: Genetic and Dietary Modulation of the Ectopic Mineralization Phenotypes

Qiaoli Li, Haitao Guo, David W. Chou, Annerose Berndt, John P. Sundberg, Jouni Uitto

published 19 Feb 2014

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Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Kana Tanahashi, Kazumitsu Sugiura, Michihiro Kono, Hiromichi Takama, Nobuyuki Hamajima, Masashi Akiyama

published 19 Feb 2014

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Extracellular Zinc Competitively Inhibits Manganese Uptake and Compromises Oxidative Stress Management in Streptococcus pneumoniae

Bart A. Eijkelkamp, Jacqueline R. Morey, Miranda P. Ween, Cheryl-lynn Y. Ong, Alastair G. McEwan, James C. Paton, Christopher A. McDevitt

published 18 Feb 2014

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p53-Independent Cell Cycle and Erythroid Differentiation Defects in Murine Embryonic Stem Cells Haploinsufficient for Diamond Blackfan Anemia-Proteins: RPS19 versus RPL5

Sharon A. Singh, Tracie A. Goldberg, Adrianna L. Henson, Sehba Husain-Krautter, Abdallah Nihrane, Lionel Blanc, Steven R. Ellis, Jeffrey M. Lipton, Johnson M. Liu

published 18 Feb 2014

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