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Frameshift mutation

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

published 13 Sep 2011

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CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome

Mee Hyun Song, Hyun-Ju Cho, Hee Keun Lee, Tae Jun Kwon, Won-Sang Lee, Sanghee Oh, Jinwoong Bok, Jae Young Choi, Un-Kyung Kim

published 13 Sep 2011

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Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients

Peter Vasovcak, Kristyna Pavlikova, Zdenek Sedlacek, Petr Skapa, Martin Kouda, Jiri Hoch, Anna Krepelova

published 25 Aug 2011

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Frequent Alteration of MLL3 Frameshift Mutations in Microsatellite Deficient Colorectal Cancer

Yoshiyuki Watanabe, Ryan J. Castoro, Hyun Soo Kim, Brittany North, Ritsuko Oikawa, Tetsuya Hiraishi, Saira S. Ahmed, Woonbok Chung, Mee-Yon Cho, Minoru Toyota, Fumio Itoh, Marcos R. H. Estecio, Lanlan Shen, Jaroslav Jelinek, Jean-Pierre J. Issa

published 11 Aug 2011

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A Newly Described Bovine Type 2 Scurs Syndrome Segregates with a Frame-Shift Mutation in TWIST1

Aurélien Capitan, Cécile Grohs, Bernard Weiss, Marie-Noëlle Rossignol, Patrick Reversé, André Eggen

published 21 Jul 2011

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Complete Genome Sequence of Treponema paraluiscuniculi, Strain Cuniculi A: The Loss of Infectivity to Humans Is Associated with Genome Decay

David Šmajs, Marie Zobaníková, Michal Strouhal, Darina Čejková, Shannon Dugan-Rocha, Petra Pospíšilová, Steven J. Norris, Tom Albert, Xiang Qin, Kym Hallsworth-Pepin, Christian Buhay, Donna M. Muzny, Lei Chen, Richard A. Gibbs, George M. Weinstock

published 31 May 2011

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A Template-Dependent Dislocation Mechanism Potentiates K65R Reverse Transcriptase Mutation Development in Subtype C Variants of HIV-1

Dimitrios Coutsinos, Cédric F. Invernizzi, Daniela Moisi, Maureen Oliveira, Jorge L. Martinez-Cajas, Bluma G. Brenner, Mark A. Wainberg

published 31 May 2011

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Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Christa E. Flück, Amit V. Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E. Mullis, Laura Audi

published 27 May 2011

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Microsatellite Instability in Pediatric High Grade Glioma Is Associated with Genomic Profile and Differential Target Gene Inactivation

Marta Viana-Pereira, Alicia Lee, Sergey Popov, Dorine A. Bax, Safa Al-Sarraj, Leslie R. Bridges, João N. Stávale, Darren Hargrave, Chris Jones, Rui M. Reis

published 26 May 2011

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Trafficking Defect and Proteasomal Degradation Contribute to the Phenotype of a Novel KCNH2 Long QT Syndrome Mutation

Anton Mihic, Vijay S. Chauhan, Xiaodong Gao, Gavin Y. Oudit, Robert G. Tsushima

published 31 Mar 2011

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Evolution of a Major Drug Metabolizing Enzyme Defect in the Domestic Cat and Other Felidae: Phylogenetic Timing and the Role of Hypercarnivory

Binu Shrestha, J. Michael Reed, Philip T. Starks, Gretchen E. Kaufman, Jared V. Goldstone, Melody E. Roelke, Stephen J. O'Brien, Klaus-Peter Koepfli, Laurence G. Frank, Michael H. Court

published 28 Mar 2011

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Point Mutations in Helicobacter pylori's fur Regulatory Gene that Alter Resistance to Metronidazole, a Prodrug Activated by Chemical Reduction

Sung Sook Choi, Peter T. Chivers, Douglas E. Berg

published 25 Mar 2011

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Genomic Signatures of Strain Selection and Enhancement in Bacillus atrophaeus var. globigii, a Historical Biowarfare Simulant

Henry S. Gibbons, Stacey M. Broomall, Lauren A. McNew, Hajnalka Daligault, Carol Chapman, David Bruce, Mark Karavis, Michael Krepps, Paul A. McGregor, Charles Hong, Kyong H. Park, Arya Akmal, Andrew Feldman, Jeffrey S. Lin, Wenling E. Chang, Brandon W. Higgs, Plamen Demirev, John Lindquist, Alvin Liem, Ed Fochler, Timothy D. Read, Roxanne Tapia, Shannon Johnson, Kimberly A. Bishop-Lilly, Chris Detter, Cliff Han, Shanmuga Sozhamannan, C. Nicole Rosenzweig, Evan W. Skowronski

published 25 Mar 2011

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