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Mutation

Human FXR Regulates SHP Expression through Direct Binding to an LRH-1 Binding Site, Independent of an IR-1 and LRH-1

Martijn O. Hoeke, Janette Heegsma, Mark Hoekstra, Han Moshage, Klaas Nico Faber

published 03 Feb 2014

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A GNAS Mutation Found in Pancreatic Intraductal Papillary Mucinous Neoplasms Induces Drastic Alterations of Gene Expression Profiles with Upregulation of Mucin Genes

Hirotake Komatsu, Etsuko Tanji, Naoaki Sakata, Takeshi Aoki, Fuyuhiko Motoi, Takeshi Naitoh, Yu Katayose, Shinichi Egawa, Michiaki Unno, Toru Furukawa

published 03 Feb 2014

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Selective Alleviation of Mitomycin C Sensitivity in lexA3 Strains of Escherichia coli Demands Allele Specificity of rif-nal Mutations: A Pivotal Role for rpoB87-gyrA87 Mutations

Vinod Shanmughapriya, Shanmugaraja Meenakshi, M. Hussain Munavar

published 03 Feb 2014

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Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi’an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E. A. Common, Birgitte E. Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang

published 03 Feb 2014

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Longer Telomeres Are Associated with Cancer Risk in MMR-Proficient Hereditary Non-Polyposis Colorectal Cancer

Nuria Seguí, Elisabet Guinó, Marta Pineda, Matilde Navarro, Fernando Bellido, Conxi Lázaro, Ignacio Blanco, Victor Moreno, Gabriel Capellá, Laura Valle

published 03 Feb 2014

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A Single Sfp-Type Phosphopantetheinyl Transferase Plays a Major Role in the Biosynthesis of PKS and NRPS Derived Metabolites in Streptomyces ambofaciens ATCC23877

Robert Bunet, Ramona Riclea, Luisa Laureti, Laurence Hôtel, Cédric Paris, Jean-Michel Girardet, Dieter Spiteller, Jeroen S. Dickschat, Pierre Leblond, Bertrand Aigle

published 31 Jan 2014

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A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events

Angela N. Brooks, Peter S. Choi, Luc de Waal, Tanaz Sharifnia, Marcin Imielinski, Gordon Saksena, Chandra Sekhar Pedamallu, Andrey Sivachenko, Mara Rosenberg, Juliann Chmielecki, Michael S. Lawrence, David S. DeLuca, Gad Getz, Matthew Meyerson

published 31 Jan 2014

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Transcriptional Profiling of ParA and ParB Mutants in Actively Dividing Cells of an Opportunistic Human Pathogen Pseudomonas aeruginosa

Aneta A. Bartosik, Krzysztof Glabski, Paulina Jecz, Sylwia Mikulska, Anna Fogtman, Marta Koblowska, Grazyna Jagura-Burdzy

published 31 Jan 2014

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Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study

Víctor A. Cortés, Susan V. Smalley, Denisse Goldenberg, Carlos F. Lagos, María I. Hodgson, José L. Santos

published 31 Jan 2014

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Identification of the Maize Gravitropism Gene lazy plant1 by a Transposon-Tagging Genome Resequencing Strategy

Thomas P. Howard III, Andrew P. Hayward, Anthony Tordillos, Christopher Fragoso, Maria A. Moreno, Joe Tohme, Albert P. Kausch, John P. Mottinger, Stephen L. Dellaporta

published 31 Jan 2014

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Variation of Human Immunodeficiency Virus Type-1 Reverse Transcriptase within the Simian Immunodeficiency Virus Genome of RT-SHIV

Debra A. Wadford, Robert C. Kauffman, Jesse D. Deere, Scott T. Aoki, Richard A. Stanton, Joanne Higgins, Koen K. A. Van Rompay, Andradi Villalobos, James H. Nettles, Raymond F. Schinazi, Niels C. Pedersen, Thomas W. North

published 31 Jan 2014

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Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

William J. Tapper, Nicola Foulds, Nicholas C. P. Cross, Paula Aranaz, Joannah Score, Claire Hidalgo-Curtis, David O. Robinson, Jane Gibson, Sarah Ennis, I. Karen Temple, Andrew Collins

published 31 Jan 2014

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Humoral Immune Responses to EGFR-Derived Peptides Predict Progression-Free and Overall Survival of Non-Small Cell Lung Cancer Patients Receiving Gefitinib

Koichi Azuma, Nobukazu Komatsu, Satoshi Hattori, Satoko Matsueda, Akihiko Kawahara, Tetsuro Sasada, Kyogo Itoh, Tomoaki Hoshino

published 31 Jan 2014

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