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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, [ ... ], Paul Goodyer

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

You Jin Chun, Jae Woo Choi, [ ... ], Korean Lung Cancer Consortium (KLCC)

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

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

Young-Ho Kim, Yura Song, [ ... ], Kyeong-Man Hong

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

Shigeharu G. Yabe, Junko Nishida, [ ... ], Hitoshi Okochi

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

Michael W. Ferguson, Chloe A. N. Gerak, [ ... ], Michel Roberge

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

Weiwei Zhang, Cheng Wang, Xuan Zhang

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

Eric Manderstedt, Rosanna Nilsson, [ ... ], Christer Halldén

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

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

Xiaopei Zhou, Weimin Jia, [ ... ], Xianqin Zhang

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, [ ... ], Alberto Ocana

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, [ ... ], Brian D. Perkins

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

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