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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
- ... Significance Inherited multisystemic diseases, myotonic dystrophies type 1 (DM1) and type 2 (DM2), are caused by long CUG and CCUG RNA repeats. The mutant RNA CCUG repeats should be degraded after intron excision; however, this RNA accumulates in cells, leading to pathology. Although mutant RNAs may be degraded with synthetic oligonucleotides, the identification of a cause of the increased stabili ...
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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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