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Nonsense mutation

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

Natalia V. Strunnikova, Jennifer Barb, Yuri V. Sergeev, Ashwin Thiagarajasubramanian, Christopher Silvin, Peter J. Munson, Ian M. MacDonald

published 22 Dec 2009

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Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky

published 13 Oct 2009

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The HIF-1 Hypoxia-Inducible Factor Modulates Lifespan in C. elegans

Yi Zhang, Zhiyong Shao, Zhiwei Zhai, Chuan Shen, Jo Anne Powell-Coffman

published 27 Jul 2009

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High Mutability of the Tumor Suppressor Genes RASSF1 and RBSP3 (CTDSPL) in Cancer

Vladimir I. Kashuba, Tatiana V. Pavlova, Elvira V. Grigorieva, Alexey Kutsenko, Surya Pavan Yenamandra, Jingfeng Li, Fuli Wang, Alexei I. Protopopov, Veronika I. Zabarovska, Vera Senchenko, Klas Haraldson, Tatiana Eshchenko, Julia Kobliakova, Olga Vorontsova, Igor Kuzmin, Eleonora Braga, Vladimir M. Blinov, Lev L. Kisselev, Yi-Xin Zeng, Ingemar Ernberg, Michael I. Lerman, George Klein, Eugene R. Zabarovsky

published 29 May 2009

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The G428A Nonsense Mutation in FUT2 Provides Strong but Not Absolute Protection against Symptomatic GII.4 Norovirus Infection

Beatrice Carlsson, Elin Kindberg, Javier Buesa, Gustaf E. Rydell, Marta Fos Lidón, Rebeca Montava, Reem Abu Mallouh, Ammi Grahn, Jesús Rodríguez-Díaz, Juan Bellido, Alberto Arnedo, Göran Larson, Lennart Svensson

published 18 May 2009

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PTCH1^+/− Dermal Fibroblasts Isolated from Healthy Skin of Gorlin Syndrome Patients Exhibit Features of Carcinoma Associated Fibroblasts

Alexandre Valin, Stéphanie Barnay-Verdier, Thomas Robert, Hugues Ripoche, Florence Brellier, Odile Chevallier-Lagente, Marie-Françoise Avril, Thierry Magnaldo

published 16 Mar 2009

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Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations

Michal Schwartz, Yifat S. Oren, Assaf C. Bester, Ayelet Rahat, Ruthy Sfez, Shlomo Yitzchaik, Jean-Pierre de Villartay, Batsheva Kerem

published 18 Feb 2009

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Epidemiology of Doublet/Multiplet Mutations in Lung Cancers: Evidence that a Subset Arises by Chronocoordinate Events

Zhenbin Chen, Jinong Feng, Carolyn H. Buzin, Steve S. Sommer

published 13 Nov 2008

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UPF1, a Conserved Nonsense-Mediated mRNA Decay Factor, Regulates Cyst Wall Protein Transcripts in Giardia lamblia

Yi-Hsiu Chen, Li-Hsin Su, Yu-Chang Huang, Yi-Ting Wang, Yu-Yun Kao, Chin-Hung Sun

published 31 Oct 2008

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Cataloging Coding Sequence Variations in Human Genome Databases

Hong-Hee Won, Hee-Jin Kim, Kyung-A Lee, Jong-Won Kim

published 30 Oct 2008

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Distribution and Effects of Nonsense Polymorphisms in Human Genes

Yumi Yamaguchi-Kabata, Makoto K. Shimada, Yosuke Hayakawa, Shinsei Minoshima, Ranajit Chakraborty, Takashi Gojobori, Tadashi Imanishi

published 14 Oct 2008

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Germline EPHB2 Receptor Variants in Familial Colorectal Cancer

George Zogopoulos, Claus Jorgensen, Julinor Bacani, Alexandre Montpetit, Pierre Lepage, Vincent Ferretti, Lauren Chad, Subani Selvarajah, Brent Zanke, Thomas J. Hudson, Tony Pawson, Steven Gallinger

published 06 Aug 2008

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Ectopic Expression of AID in a Non-B Cell Line Triggers A∶T and G:C Point Mutations in Non-Replicating Episomal Vectors

Tihana Jovanic, Benjamin Roche, Géraldine Attal-Bonnefoy, Olivier Leclercq, François Rougeon

published 23 Jan 2008

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