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- Jones, Karlie; Wei, Christina; Schoser, Benedikt; Meola, Giovanni; Timchenko, Nikolai; Timchenko, Lubov
- Proceedings of the National Academy of Sciences of the United States of America 2015 v.112 no.26 pp. 8041-8045
- biopsy, etc ; RNA; RNA helicases; introns; mutants; oligonucleotides; patients; skeletal muscle; toxicity; Show all 9 Subjects
- ... Myotonic dystrophies type 1 (DM1) and type 2 (DM2) are neuromuscular diseases, caused by accumulation of CUG and CCUG RNAs in toxic aggregates. Here we report that the increased stability of the mutant RNAs in both types of DM is caused by deficiency of RNA helicase p68. We have identified p68 by studying CCUG-binding proteins associated with degradation of the mutant CCUG repeats. Protein levels ...
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- Green, Michael R.; Kihira, Shingo; Liu, Chih Long; Nair, Ramesh V.; Salari, Raheleh; Gentles, Andrew J.; Irish, Jonathan; Stehr, Henning; Vicente-Dueñas, Carolina; Romero-Camarero, Isabel; Sanchez-Garcia, Isidro; Plevritis, Sylvia K.; Arber, Daniel A.; Batzoglou, Serafim; Levy, Ronald; Alizadeh, Ash A.
- Proceedings of the National Academy of Sciences of the United States of America 2015 v.112 no.10 pp. E1116
- biopsy, etc ; antigen presentation; clones; disease models; genome; immune evasion; lymphoma; mutation; neoplasm cells; phylogeny; Show all 10 Subjects
- ... Follicular lymphoma (FL) is incurable with conventional therapies and has a clinical course typified by multiple relapses after therapy. These tumors are genetically characterized by B-cell leukemia/lymphoma 2 ( BCL2 ) translocation and mutation of genes involved in chromatin modification. By analyzing purified tumor cells, we identified additional novel recurrently mutated genes and confirmed mut ...
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