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Nonsense mutation

Suppression of Amber Codons in Caulobacter crescentus by the Orthogonal Escherichia coli Histidyl-tRNA Synthetase/tRNA^His Pair

Jae-hyeong Ko, Paula Montero Llopis, Jennifer Heinritz, Christine Jacobs-Wagner, Dieter Söll

published 30 Dec 2013

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Uncovering Wolbachia Diversity upon Artificial Host Transfer

Daniela I. Schneider, Markus Riegler, Wolfgang Arthofer, Hervé Merçot, Christian Stauffer, Wolfgang J. Miller

published 20 Dec 2013

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Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Richard S. Finkel, Kevin M. Flanigan, Brenda Wong, Carsten Bönnemann, Jacinda Sampson, H. Lee Sweeney, Allen Reha, Valerie J. Northcutt, Gary Elfring, Jay Barth, Stuart W. Peltz

published 11 Dec 2013

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An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Michelle Falcone, Kemal O. Yariz, David B. Ross, Joseph Foster II, Ibis Menendez, Mustafa Tekin

published 06 Dec 2013

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Quail FMO3 Gene Cloning, Tissue Expression Profiling, Polymorphism Detection and Association Analysis with Fishy Taint in Eggs

Fengtao Mo, Jiangxia Zheng, Peng Wang, Ling Lian, Guoqiang Yi, Guiyun Xu, Ning Yang

published 25 Nov 2013

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Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, Christian Decker, Markus N. Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G. Holz, Shahid M. Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y. Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S. Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J. Bolz

published 12 Nov 2013

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A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha, Hong Zheng, Xiaoqi Liu, Jiyun Yang, Yi Shi, Ying Lin, Bo Gong, Xianjun Zhu, Shi Ma, Lifeng Qiao, He Lin, Jing Cheng, Zhenglin Yang

published 11 Nov 2013

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CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features

Yong Mao, Han Chen, Han Liang, Funda Meric-Bernstam, Gordon B. Mills, Ken Chen

published 30 Oct 2013

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Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, Xin Liu, Dongyang Kang, Xin Zhang, Weiyan Yang, Chengyong Zhou, Shiming Yang, Huijun Yuan

published 23 Oct 2013

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PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review

Yan-Yan Guo, Jian-Yun Zhang, Xue-Fen Li, Hai-Yan Luo, Feng Chen, Tie-Jun Li

published 21 Oct 2013

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Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

published 10 Oct 2013

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Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

Maiko Miyagawa, Shin-ya Nishio, Takuo Ikeda, Kunihiro Fukushima, Shin-ichi Usami

published 09 Oct 2013

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Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region

Ioanna A. Armata, Leonora Balaj, John K. Kuster, Xuan Zhang, Shelun Tsai, Andreas A. Armatas, Trisha J. Multhaupt-Buell, Roy Soberman, Xandra O. Breakefield, Hiroshi Ichinose, Nutan Sharma

published 04 Oct 2013

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