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Nonsense mutation

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan

published 30 Apr 2013

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DNA-Bound Platinum Is the Major Determinant of Cisplatin Sensitivity in Head and Neck Squamous Carcinoma Cells

Sanne R. Martens-de Kemp, Simone U. Dalm, Fiona M. J. Wijnolts, Arjen Brink, Richard J. Honeywell, Godefridus J. Peters, Boudewijn J. M. Braakhuis, Ruud H. Brakenhoff

published 17 Apr 2013

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Differential Expression of ID4 and Its Association with TP53 Mutation, SOX2, SOX4 and OCT-4 Expression Levels

Thais Fernanda de Almeida Galatro, Miyuki Uno, Sueli Mieko Oba-Shinjo, Antonio Nogueira Almeida, Manoel J. Teixeira, Sérgio Rosemberg, Suely Kazue N. Marie

published 16 Apr 2013

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Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

Kim M. Keeling, Dan Wang, Yanying Dai, Srinivasan Murugesan, Balachandra Chenna, Jeremy Clark, Valery Belakhov, Jeyakumar Kandasamy, Sadanandan E. Velu, Timor Baasov, David M. Bedwell

published 10 Apr 2013

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Crystal Structure of KLHL3 in Complex with Cullin3

Alan X. Ji, Gilbert G. Privé

published 03 Apr 2013

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Site Specific Mutation of the Zic2 Locus by Microinjection of TALEN mRNA in Mouse CD1, C3H and C57BL/6J Oocytes

Benjamin Davies, Graham Davies, Christopher Preece, Rathi Puliyadi, Dorota Szumska, Shoumo Bhattacharya

published 28 Mar 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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Nonsense and Sense Suppression Abilities of Original and Derivative Methanosarcina mazei Pyrrolysyl-tRNA Synthetase-tRNA^Pyl Pairs in the Escherichia coli BL21(DE3) Cell Strain

Keturah A. Odoi, Ying Huang, Yohannes H. Rezenom, Wenshe R. Liu

published 08 Mar 2013

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A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

published 05 Mar 2013

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Primary Microcephaly Gene MCPH1 Shows Signatures of Tumor Suppressors and Is Regulated by miR-27a in Oral Squamous Cell Carcinoma

Thejaswini Venkatesh, Mathighatta Nagaraj Nagashri, Shivananda S. Swamy, S. M. Azeem Mohiyuddin, Kodaganur S. Gopinath, Arun Kumar

published 05 Mar 2013

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Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan

published 18 Feb 2013

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A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

Eija H. Seppälä, Arnold J. J. Reuser, Hannes Lohi

published 14 Feb 2013

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The Effectiveness of Cucurbitacin B in BRCA1 Defective Breast Cancer Cells

Moltira Promkan, Sumana Dakeng, Subhas Chakrabarty, Oliver Bögler, Pimpicha Patmasiriwat

published 05 Feb 2013

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