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Point mutation

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

Bruno Francou, Jérôme Bouligand, Adela Voican, Larbi Amazit, Séverine Trabado, Jérôme Fagart, Geri Meduri, Sylvie Brailly-Tabard, Philippe Chanson, Pierre Lecomte, Anne Guiochon-Mantel, Jacques Young

published 21 Oct 2011

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Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera

Zhiyuan Wu, Hong Yuan, Xinju Zhang, Weiwei Liu, Jinhua Xu, Wei Zhang, Ming Guan

published 20 Oct 2011

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In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Mohammed Alanazi, Zainularifeen Abduljaleel, Wajahatullah Khan, Arjumand S. Warsy, Mohamed Elrobh, Zahid Khan, Abdullah Al Amri, Mohammad D. Bazzi

published 20 Oct 2011

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Instability of the Octarepeat Region of the Human Prion Protein Gene

Baiya Li, Liuting Qing, Jianqun Yan, Qingzhong Kong

published 19 Oct 2011

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ENU-Induced Mutagenesis in Grass Carp (Ctenopharyngodon idellus) by Treating Mature Sperm

Xia-Yun Jiang, Cheng-Fei Sun, Quan-Gen Zhang, Shu-Ming Zou

published 17 Oct 2011

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AGO6 Functions in RNA-Mediated Transcriptional Gene Silencing in Shoot and Root Meristems in Arabidopsis thaliana

Changho Eun, Zdravko J. Lorkovic, Ulf Naumann, Quan Long, Ericka R. Havecker, Stacey A. Simon, Blake C. Meyers, Antonius J. M. Matzke, Marjori Matzke

published 05 Oct 2011

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The SOCS2 Ubiquitin Ligase Complex Regulates Growth Hormone Receptor Levels

Mattias Vesterlund, Fahad Zadjali, Torbjörn Persson, Michael Lund Nielsen, Benedikt M. Kessler, Gunnar Norstedt, Amilcar Flores-Morales

published 29 Sep 2011

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Kv7 Channels Can Function without Constitutive Calmodulin Tethering

Juan Camilo Gómez-Posada, Paloma Aivar, Araitz Alberdi, Alessandro Alaimo, Ainhoa Etxeberría, Juncal Fernández-Orth, Teresa Zamalloa, Meritxell Roura-Ferrer, Patricia Villace, Pilar Areso, Oscar Casis, Alvaro Villarroel

published 28 Sep 2011

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Reversible Resistance Induced by FLT3 Inhibition: A Novel Resistance Mechanism in Mutant FLT3-Expressing Cells

Ellen Weisberg, Arghya Ray, Erik Nelson, Sophia Adamia, Rosemary Barrett, Martin Sattler, Chengsheng Zhang, John F. Daley, David Frank, Edward Fox, James D. Griffin

published 28 Sep 2011

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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

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A Functional Interface at the rDNA Connects rRNA Synthesis, Pre-rRNA Processing and Nucleolar Surveillance in Budding Yeast

Nathalie Leporé, Denis L. J. Lafontaine

published 19 Sep 2011

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Contribution of the Caspase Gene Sequence Diversification to the Specifically Antiviral Defense in Invertebrate

Bin Zhi, Lei Wang, Guangyi Wang, Xiaobo Zhang

published 19 Sep 2011

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The ETS Family Member TEL Binds to Nuclear Receptors RAR and RXR and Represses Gene Activation

Magda A. Meester-Smoor, Marjolein J. F. W. Janssen, W. Martijn ter Haar, Karel H. M. van Wely, Albert-Jan L. H. J. Aarnoudse, Gertine van Oord, Gabrielle B. A. van Tilburg, Ellen C. Zwarthoff

published 16 Sep 2011

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