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Nonsense mutation

Readthrough of Premature Termination Codons in the Adenomatous Polyposis Coli Gene Restores Its Biological Activity in Human Cancer Cells

Célia Floquet, Jean-Pierre Rousset, Laure Bidou

published 31 Aug 2011

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Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, Xinshun Zhang, Yu Wang, Wenjuan Qiu, Jun Ye, Lianshu Han, Xiaolan Gao, Xuefan Gu

published 04 Aug 2011

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Defective CFTR Expression and Function Are Detectable in Blood Monocytes: Development of a New Blood Test for Cystic Fibrosis

Claudio Sorio, Mario Buffelli, Chiara Angiari, Michele Ettorre, Jan Johansson, Marzia Vezzalini, Laura Viviani, Mario Ricciardi, Genny Verzè, Baroukh Maurice Assael, Paola Melotti

published 21 Jul 2011

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A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep

Xia Zhao, Keren E. Dittmer, Hugh T. Blair, Keith G. Thompson, Max F. Rothschild, Dorian J. Garrick

published 01 Jul 2011

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Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

Manuela Vecsler, Bruria Ben Zeev, Igor Nudelman, Yair Anikster, Amos J. Simon, Ninette Amariglio, Gideon Rechavi, Timor Baasov, Eva Gak

published 13 Jun 2011

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Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

published 13 May 2011

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Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

Marie-Elisabeth Brun, Erica Lana, Isabelle Rivals, Gérard Lefranc, Pierre Sarda, Mireille Claustres, André Mégarbané, Albertina De Sario

published 29 Apr 2011

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IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Stéphanie Boisson-Dupuis, Jamila El Baghdadi, Nima Parvaneh, Aziz Bousfiha, Jacinta Bustamante, Jacqueline Feinberg, Arina Samarina, Audrey V. Grant, Lucile Janniere, Naima El Hafidi, Amal Hassani, Daniel Nolan, Jilali Najib, Yildiz Camcioglu, Nevin Hatipoglu, Cigdem Aydogmus, Gonul Tanir, Caner Aytekin, Melike Keser, Ayper Somer, Guside Aksu, Necil Kutukculer, Davood Mansouri, Alireza Mahdaviani, Setareh Mamishi, Alexandre Alcais, Laurent Abel, Jean-Laurent Casanova

published 13 Apr 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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Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

Tianna Zhao, Esther De Graaff, Guido J. Breedveld, Agnese Loda, Lies-Anne Severijnen, Cokkie H. Wouters, Frans W. Verheijen, Marieke C. J. Dekker, Pasquale Montagna, Rob Willemsen, Ben A. Oostra, Vincenzo Bonifati

published 11 Feb 2011

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ENU Mutagenesis Identifies Mice with Morbid Obesity and Severe Hyperinsulinemia Caused by a Novel Mutation in Leptin

Chen-Jee Hong, Pei-Jane Tsai, Chih-Ya Cheng, Chuan-Kai Chou, Huei-Fen Jheng, You-Chung Chuang, Chia-Ning Yang, Ya-Tzu Lin, Chih-Wei Hsu, Irene H. Cheng, Shiow-Yi Chen, Shih-Jen Tsai, Ying-Jay Liou, Yau-Sheng Tsai

published 09 Dec 2010

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Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, Hiroshi Fujiwara, Jun An, Toshiki Ochi, Koichiro Suemori, Takahiro Yasumi, Hisamichi Tauchi, Katsuyoshi Koh, Maho Sato, Akira Morimoto, Toshio Heike, Eiichi Ishii, Masaki Yasukawa

published 30 Nov 2010

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The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, Baruch Wolach, Ronit Gavrieli, Ninette Amariglio, Ester Rosenthal, Ephraim Gazit, Eran Eyal, Gideon Rechavi, Raz Somech

published 16 Nov 2010

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