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Frameshift mutation

The Phenotype of Many Independently Isolated +1 Frameshift Suppressor Mutants Supports a Pivotal Role of the P-Site in Reading Frame Maintenance

Gunilla Jäger, Kristina Nilsson, Glenn R. Björk

published 04 Apr 2013

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Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population

Fulan Hu, Dandan Li, Yibaina Wang, Xiaoping Yao, Wencui Zhang, Jing Liang, Chunqing Lin, Jiaojiao Ren, Lin Zhu, Zhiwei Wu, Shuying Li, Ye Li, Xiaojuan Zhao, Binbin Cui, Xinshu Dong, Suli Tian, Yashuang Zhao

published 03 Apr 2013

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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

published 25 Mar 2013

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Additional Routes to Staphylococcus aureus Daptomycin Resistance as Revealed by Comparative Genome Sequencing, Transcriptional Profiling, and Phenotypic Studies

Yang Song, Aileen Rubio, Radheshyam K. Jayaswal, Jared A. Silverman, Brian J. Wilkinson

published 15 Mar 2013

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Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Yang Zhang, Xianan Guo, Anhua Wu

published 20 Feb 2013

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Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

Matija Rijavec, Peter Korošec, Mira Šilar, Mihaela Zidarn, Jovan Miljković, Mitja Košnik

published 20 Feb 2013

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Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma

Frédérique Végran, Magali Rebucci, Sandy Chevrier, Muriel Cadouot, Romain Boidot, Sarab Lizard-Nacol

published 24 Jan 2013

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The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

published 23 Jan 2013

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Promoter Hypermethylation of ARID1A Gene Is Responsible for Its Low mRNA Expression in Many Invasive Breast Cancers

Xianyu Zhang, Qian Sun, Ming Shan, Ming Niu, Tong Liu, Bingshu Xia, Xiaoshuan Liang, Wei Wei, Shanshan Sun, Youxue Zhang, Xiaolong Sean Liu, Qingbin Song, Yanmei Yang, Yuyan Ma, Yang Liu, Long Yang, Yanlv Ren, Guoqiang Zhang, Da Pang

published 21 Jan 2013

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Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors

Xi-De Wang, Hector Inzunza, Han Chang, Zhenhao Qi, Beihong Hu, Daniel Malone, John Cogswell

published 18 Jan 2013

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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I. den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P. M. Cremers, Roser Gonzalez-Duarte, Robert K. Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

published 07 Jan 2013

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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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Genome-Wide Survey of Pseudogenes in 80 Fully Re-sequenced Arabidopsis thaliana Accessions

Long Wang, Weina Si, Yongfang Yao, Dacheng Tian, Hitoshi Araki, Sihai Yang

published 13 Dec 2012

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