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Frameshift mutation

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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Decreased Expression of the ARID1A Gene Is Associated with Poor Prognosis in Primary Gastric Cancer

Dan-dan Wang, Yi-bing Chen, Ke Pan, Wei Wang, Shi-ping Chen, Ju-gao Chen, Jing-jing Zhao, Lin Lv, Qiu-zhong Pan, Yong-qiang Li, Qi-jing Wang, Li-xi Huang, Miao-la Ke, Jia He, Jian-chuan Xia

published 13 Jul 2012

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Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Zineb Lahlou, Domitille Goullon, Hélène Sarda-Thibault, Juliette Cahen-Varsaux, Joëlle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey, Raja Brauner

published 27 Jun 2012

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Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Marina Capuano, Carmen Maria Garcia-Herrero, Nadia Tinto, Carla Carluccio, Valentina Capobianco, Iolanda Coto, Arturo Cola, Dario Iafusco, Adriana Franzese, Adriana Zagari, Maria Angeles Navas, Lucia Sacchetti

published 20 Jun 2012

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Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Amélie Bonnefond, Julien Philippe, Emmanuelle Durand, Aurélie Dechaume, Marlène Huyvaert, Louise Montagne, Michel Marre, Beverley Balkau, Isabelle Fajardy, Anne Vambergue, Vincent Vatin, Jérôme Delplanque, David Le Guilcher, Franck De Graeve, Cécile Lecoeur, Olivier Sand, Martine Vaxillaire, Philippe Froguel

published 11 Jun 2012

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Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, Shuli He, Zhen Zhao, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Xunwu Meng, Xueying Zhou

published 07 Jun 2012

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Genotype-Dependent Efficacy of a Dual PI3K/mTOR Inhibitor, NVP-BEZ235, and an mTOR Inhibitor, RAD001, in Endometrial Carcinomas

Keiko Shoji, Katsutoshi Oda, Tomoko Kashiyama, Yuji Ikeda, Shunsuke Nakagawa, Kenbun Sone, Yuichiro Miyamoto, Haruko Hiraike, Michihiro Tanikawa, Aki Miyasaka, Takahiro Koso, Yoko Matsumoto, Osamu Wada-Hiraike, Kei Kawana, Hiroyuki Kuramoto, Frank McCormick, Hiroyuki Aburatani, Tetsu Yano, Shiro Kozuma, Yuji Taketani

published 25 May 2012

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Human Cataract Mutations in EPHA2 SAM Domain Alter Receptor Stability and Function

Jeong Eun Park, Alexander I. Son, Rui Hua, Lianqing Wang, Xue Zhang, Renping Zhou

published 03 May 2012

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Evidence for a Rad18-Independent Frameshift Mutagenesis Pathway in Human Cell-Free Extracts

Régine Janel-Bintz, Jérôme Wagner, Lajos Haracska, Marcia Chia Miao Mah-Becherel, Marc Bichara, Robert P. Fuchs, Agnès M. Cordonnier

published 27 Apr 2012

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Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population

Liang Tang, Tao Guo, Rui Yang, Heng Mei, Huafang Wang, Xuan Lu, Jianming Yu, Qingyun Wang, Yu Hu

published 24 Apr 2012

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Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

published 29 Mar 2012

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