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Frameshift mutation

A 5-bp Insertion in Mip Causes Recessive Congenital Cataract in KFRS4/Kyo Rats

Kei Watanabe, Kenta Wada, Tomoko Ohashi, Saki Okubo, Kensuke Takekuma, Ryoichi Hashizume, Jun-Ichi Hayashi, Tadao Serikawa, Takashi Kuramoto, Yoshiaki Kikkawa

published 30 Nov 2012

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Oxidative Stress Induces Nuclear-to-Cytosol Shift of hMSH3, a Potential Mechanism for EMAST in Colorectal Cancer Cells

Stephanie S. Tseng-Rogenski, Heekyung Chung, Maike B. Wilk, Shuai Zhang, Moriya Iwaizumi, John M. Carethers

published 30 Nov 2012

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MSH3-Deficiency Initiates EMAST without Oncogenic Transformation of Human Colon Epithelial Cells

Christoph Campregher, Gerald Schmid, Franziska Ferk, Siegfried Knasmüller, Vineeta Khare, Benedikt Kortüm, Kyle Dammann, Michaela Lang, Theresa Scharl, Andreas Spittler, Andres I. Roig, Jerry W. Shay, Christopher Gerner, Christoph Gasche

published 27 Nov 2012

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Persistence of Anticancer Activity in Berry Extracts after Simulated Gastrointestinal Digestion and Colonic Fermentation

Emma M. Brown, Gordon J. McDougall, Derek Stewart, Gema Pereira-Caro, Rocio González-Barrio, Philip Allsopp, Pamela Magee, Alan Crozier, Ian Rowland, Chris I. R. Gill

published 21 Nov 2012

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Mutation Frequency and Spectrum of Mutations Vary at Different Chromosomal Positions of Pseudomonas putida

Triinu Juurik, Heili Ilves, Riho Teras, Tanel Ilmjärv, Kairi Tavita, Kärt Ukkivi, Annika Teppo, Katren Mikkel, Maia Kivisaar

published 31 Oct 2012

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The Genomic Landscape of TP53 and p53 Annotated High Grade Ovarian Serous Carcinomas from a Defined Founder Population Associated with Patient Outcome

Paulina M. Wojnarowicz, Kathleen Klein Oros, Michael C. J. Quinn, Suzanna L. Arcand, Karen Gambaro, Jason Madore, Ashley H. Birch, Manon de Ladurantaye, Kurosh Rahimi, Diane M. Provencher, Anne-Marie Mes-Masson, Celia M. T. Greenwood, Patricia N. Tonin

published 20 Sep 2012

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Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, Frans P. M. Cremers, Anneke I. den Hollander, L. Ingeborgh van den Born, Eric A. Pierce

published 21 Aug 2012

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Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis

Fabiola Traina, Valeria Visconte, Anna M. Jankowska, Hideki Makishima, Christine L. O’Keefe, Paul Elson, Yingchun Han, Fred H. Hsieh, Mikkael A. Sekeres, Raghuveer Singh Mali, Matt Kalaycio, Alan E. Lichtin, Anjali S. Advani, Hien K. Duong, Edward Copelan, Reuben Kapur, Sara T. Olalla Saad, Jaroslaw P. Maciejewski, Ramon V. Tiu

published 15 Aug 2012

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Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

published 10 Aug 2012

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Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, María José Larrayoz, Toshinori Kondo, Cristina Pérez, Sally Killick, Emma-Jane McDonald, María Dolores Odero, Xabier Agirre, Felipe Prósper, María José Calasanz, James S. Wainscoat, Jacqueline Boultwood

published 09 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Yeasts Acquire Resistance Secondary to Antifungal Drug Treatment by Adaptive Mutagenesis

David Quinto-Alemany, Ana Canerina-Amaro, Luís G. Hernández-Abad, Félix Machín, Floyd E. Romesberg, Cristina Gil-Lamaignere

published 31 Jul 2012

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Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

published 25 Jul 2012

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