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Showing 1–3 of 3 results
Advanced filters: Author: Alejandra Martínez-Trillos Clear advanced filters

  • Carlos López-Otín and colleagues report recurrent mutations in POT1 in chronic lymphocytic leukemia. This is the first member of the telomeric shelterin complex reported to be mutated in human cancer.

    • Andrew J Ramsay
    • Víctor Quesada
    • Carlos López-Otín
    Research
    Nature Genetics
    Volume: 45, P: 526-530

  • José Martin-Subero and colleagues report whole-genome bisulfite sequencing and methylome analysis of two CLLs and three B-cell subpopulations using high-density microarrays on 139 CLLs. They identify widespread hypomethylation in the gene body that is largely associated with intragenic enhancer elements.

    • Marta Kulis
    • Simon Heath
    • José I Martín-Subero
    Research
    Nature Genetics
    Volume: 44, P: 1236-1242

  • Carlos López-Otín, Elías Campo and colleagues report exome sequencing of tumor and normal samples from 105 individuals with chronic lymphocytic leukemia (CLL). They identify 1,246 somatic mutations predicted to affect gene function and 78 genes with recurrent predicted functional mutations. They find recurrent mutations in the gene encoding the SF3B1 splicing factor, which was mutated in 10% of the CLL samples.

    • Víctor Quesada
    • Laura Conde
    • Carlos López-Otín
    Research
    Nature Genetics
    Volume: 44, P: 47-52