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Deletion mutation

Mutations of the EPHB6 Receptor Tyrosine Kinase Induce a Pro-Metastatic Phenotype in Non-Small Cell Lung Cancer

Etmar Bulk, Jun Yu, Antje Hascher, Steffen Koschmieder, Rainer Wiewrodt, Utz Krug, Bernd Timmermann, Alessandro Marra, Ludger Hillejan, Karsten Wiebe, Wolfgang E. Berdel, Albrecht Schwab, Carsten Müller-Tidow

published 04 Dec 2012

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TAK1 (MAP3K7) Signaling Regulates Hematopoietic Stem Cells through TNF-Dependent and -Independent Mechanisms

Giichi Takaesu, Maiko Inagaki, Keiyo Takubo, Yuji Mishina, Paul R. Hess, Gregg A. Dean, Akihiko Yoshimura, Kunihiro Matsumoto, Toshio Suda, Jun Ninomiya-Tsuji

published 30 Nov 2012

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The Auto-Inhibitory Role of the EPAC Hinge Helix as Mapped by NMR

Rajeevan Selvaratnam, Mohammad T. Mazhab-Jafari, Rahul Das, Giuseppe Melacini

published 21 Nov 2012

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Hidden Epistastic Interactions Can Favour the Evolution of Sex and Recombination

Joel R. Peck, David Waxman, John J. Welch

published 21 Nov 2012

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Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

Stuart A. Cain, Amanda McGovern, Andrew K. Baldwin, Clair Baldock, Cay M. Kielty

published 02 Nov 2012

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Sorting Signals That Mediate Traffic of Chitin Synthase III between the TGN/Endosomes and to the Plasma Membrane in Yeast

Trevor L. Starr, Silvere Pagant, Chao-Wen Wang, Randy Schekman

published 03 Oct 2012

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Superantigenic Activity of emm3 Streptococcus pyogenes Is Abrogated by a Conserved, Naturally Occurring smeZ Mutation

Claire E. Turner, Mary Sommerlad, Karen McGregor, Frances J. Davies, Bruno Pichon, Deborah L. W. Chong, Leili Farzaneh, Matthew T. G. Holden, Brian G. Spratt, Androulla Efstratiou, Shiranee Sriskandan

published 01 Oct 2012

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Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis

Ava Kwong, Enders Kai On Ng, Chris Lei Po Wong, Fian Bic Fai Law, Tommy Au, Hong Nei Wong, Allison W. Kurian, Dee W. West, James M. Ford, Edmond Siu Kwan Ma

published 07 Sep 2012

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Rapid Diagnostic Tests for Malaria Diagnosis in the Peruvian Amazon: Impact of pfhrp2 Gene Deletions and Cross-Reactions

Jessica Maltha, Dionicia Gamboa, Jorge Bendezu, Luis Sanchez, Lieselotte Cnops, Philippe Gillet, Jan Jacobs

published 28 Aug 2012

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A Comparison of EGFR Mutation Testing Methods in Lung Carcinoma: Direct Sequencing, Real-time PCR and Immunohistochemistry

Bárbara Angulo, Esther Conde, Ana Suárez-Gauthier, Carlos Plaza, Rebeca Martínez, Pilar Redondo, Elisa Izquierdo, Belén Rubio-Viqueira, Luis Paz-Ares, Manuel Hidalgo, Fernando López-Ríos

published 27 Aug 2012

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Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

Ian Tietjen, G. Kees Hovingh, Roshni R. Singaraja, Chris Radomski, Amina Barhdadi, Jason McEwen, Elden Chan, Maryanne Mattice, Annick Legendre, Patrick L. Franchini, Marie-Pierre Dubé, John J. P. Kastelein, Michael R. Hayden

published 27 Aug 2012

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The Consistency of Beneficial Fitness Effects of Mutations across Diverse Genetic Backgrounds

Victoria M. Pearson, Craig R. Miller, Darin R. Rokyta

published 24 Aug 2012

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A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan, Xuan Liao, Su-ping Cai, Changjun Lan, Yun Wang, Xiaomin Zhou, Yan Yin, Wenhan Yu, Xuyang Liu

published 20 Aug 2012

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