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Deletion mutation

Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families

Limeng Dai, Dan Liu, Min Song, Xueqing Xu, Gang Xiong, Kang Yang, Kun Zhang, Hui Meng, Hong Guo, Yun Bai

published 01 May 2014

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Efficient Generation of Myostatin (MSTN) Biallelic Mutations in Cattle Using Zinc Finger Nucleases

Junjie Luo, Zhiyuan Song, Shengli Yu, Dan Cui, Benli Wang, Fangrong Ding, Song Li, Yunping Dai, Ning Li

published 17 Apr 2014

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Opposite Effects of Gene Deficiency and Pharmacological Inhibition of Soluble Epoxide Hydrolase on Cardiac Fibrosis

Lijuan Li, Nan Li, Wei Pang, Xu Zhang, Bruce D. Hammock, Ding Ai, Yi Zhu

published 09 Apr 2014

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Impact of Mutations in Highly Conserved Amino Acids of the HIV-1 Gag-p24 and Env-gp120 Proteins on Viral Replication in Different Genetic Backgrounds

Yi Liu, Ushnal Rao, Jan McClure, Philip Konopa, Siriphan Manocheewa, Moon Kim, Lennie Chen, Ryan M. Troyer, Denis M. Tebit, Sarah Holte, Eric J. Arts, James I. Mullins

published 08 Apr 2014

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Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore

Yanqun Liu, Min Hoe Chew, Xue Wei Goh, Soo Yong Tan, Carol Tien Tau Loi, Yuen Ming Tan, Hai Yang Law, Poh Koon Koh, Choong Leong Tang

published 07 Apr 2014

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Large Genomic Rearrangements of BRCA1 and BRCA2 among Patients Referred for Genetic Analysis in Galicia (NW Spain): Delimitation and Mechanism of Three Novel BRCA1 Rearrangements

Laura Fachal, Ana Blanco, Marta Santamariña, Angel Carracedo, Ana Vega

published 31 Mar 2014

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Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients

Priyanka Kasatkar, Shrimati Shetty, Kanjaksha Ghosh

published 27 Mar 2014

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Rad4 Mainly Functions in Chk1-Mediated DNA Damage Checkpoint Pathway as a Scaffold Protein in the Fission Yeast Schizosaccharomyces pombe

Ming Yue, Li Zeng, Amanpreet Singh, Yongjie Xu

published 24 Mar 2014

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The Ribosomal Biogenesis Protein Utp21 Interacts with Hsp90 and Has Differing Requirements for Hsp90-Associated Proteins

Victoria R. Tenge, Jared Knowles, Jill L. Johnson

published 19 Mar 2014

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TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara

published 17 Mar 2014

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Generation and Phenotyping of a Collection of sRNA Gene Deletion Mutants of the Haloarchaeon Haloferax volcanii

Katharina Jaschinski, Julia Babski, Matthias Lehr, Anna Burmester, Juliane Benz, Ruth Heyer, Marcella Dörr, Anita Marchfelder, Jörg Soppa

published 17 Mar 2014

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CCR2 Gene Deletion and Pharmacologic Blockade Ameliorate a Severe Murine Experimental Autoimmune Neuritis Model of Guillain-Barré Syndrome

Furong Yuan, Nejla Yosef, Chetan Lakshmana Reddy, Ailing Huang, Sharon C. Chiang, Hafiza Rahman Tithi, Eroboghene E. Ubogu

published 14 Mar 2014

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The Superintegron Integrase and the Cassette Promoters Are Co-Regulated in Vibrio cholerae

Evelyne Krin, Guillaume Cambray, Didier Mazel

published 10 Mar 2014

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