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Nonsense mutation

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

Emma J. Brasell, Lee Lee Chu, Murielle M. Akpa, Idit Eshkar-Oren, Iris Alroy, Rachel Corsini, Brian M. Gilfix, Yojiro Yamanaka, Pedro Huertas, Paul Goodyer

published 04 Dec 2019

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Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing

You Jin Chun, Jae Woo Choi, Min Hee Hong, Dongmin Jung, Hyeonju Son, Eun Kyung Cho, Young Joo Min, Sang-We Kim, Keunchil Park, Sung Sook Lee, Sangwoo Kim, Hye Ryun Kim, Byoung Chul Cho, Korean Lung Cancer Consortium (KLCC)

published 25 Nov 2019

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Re-evaluation of a Tn5::gacA mutant of Pseudomonas syringae pv. tomato DC3000 uncovers roles for uvrC and anmK in promoting virulence

Megan R. O’Malley, Alexandra J. Weisberg, Jeff H. Chang, Jeffrey C. Anderson

published 10 Oct 2019

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases

Young-Ho Kim, Yura Song, Jong-Kwang Kim, Tae-Min Kim, Hye Won Sim, Hyung-Lae Kim, Hyonchol Jang, Young-Woo Kim, Kyeong-Man Hong

published 12 Sep 2019

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Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, Satsuki Fukuda, Fujie Takeda, Kiyoko Nasiro, Kazuki Yasuda, Naoko Iwasaki, Hitoshi Okochi

published 30 May 2019

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The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418

Michael W. Ferguson, Chloe A. N. Gerak, Christalle C. T. Chow, Ettore J. Rastelli, Kyle E. Elmore, Florian Stahl, Sara Hosseini-Farahabadi, Alireza Baradaran-Heravi, Don M. Coltart, Michel Roberge

published 23 May 2019

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Mutplot: An easy-to-use online tool for plotting complex mutation data with flexibility

Weiwei Zhang, Cheng Wang, Xuan Zhang

published 15 May 2019

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Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening

Eric Manderstedt, Rosanna Nilsson, Christina Lind-Halldén, Rolf Ljung, Jan Astermark, Christer Halldén

published 26 Apr 2019

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Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4^st72 allele in zebrafish

Max Krall, Stephanie Htun, Anne Slavotinek

published 24 Apr 2019

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Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Xiaopei Zhou, Weimin Jia, Zhengyi Ni, Ali Wang, Zhenxing Liu, Meiqi Hou, Mi Zhou, Zhongwen Tang, Dazhi Zhang, Lei Li, Tiantian Han, Yang Tan, Geng Luo, Jiarui Wang, Yanling Wu, Xianqin Zhang

published 18 Apr 2019

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Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors

Sara Morcillo-Garcia, Maria del Mar Noblejas-Lopez, Cristina Nieto-Jimenez, Javier Perez-Peña, Miriam Nuncia-Cantarero, Balázs Győrffy, Eitan Amir, Atanasio Pandiella, Eva M. Galan-Moya, Alberto Ocana

published 16 Apr 2019

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Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

Emma M. Lessieur, Ping Song, Gabrielle C. Nivar, Ellen M. Piccillo, Joseph Fogerty, Richard Rozic, Brian D. Perkins

published 10 Apr 2019

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

published 15 Mar 2019

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