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Showing 1–3 of 3 results
Advanced filters: Author: Kelly Turrell Clear advanced filters

  • Clear cell renal carcinoma, the most common form of adult kidney cancer, is often characterized by the presence of inactivating mutations in the VHL gene. A large survey for somatic mutations now identifies inactivating mutations in two genes encoding enzymes involved in histone modification, highlighting the role of mutations in components of the chromatin modification machinery in human cancer.

    • Gillian L. Dalgliesh
    • Kyle Furge
    • P. Andrew Futreal
    Research
    Nature
    Volume: 463, P: 360-363

  • Andrew Futreal and colleagues report inactivating somatic mutations in the histone lysine demethylase gene UTX in human cancers, including multiple myelomas, esophageal squamous carcinomas, renal clear cell carcinomas, acute and chronic myeloid leukemias, breast and colorectal cancers and glioblastomas, identifying UTX as a new tumor suppressor gene.

    • Gijs van Haaften
    • Gillian L Dalgliesh
    • P Andrew Futreal
    Research
    Nature Genetics
    Volume: 41, P: 521-523

  • Tarpey et al. carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatible with X linkage in order to identify XLMR-causative mutations. They find several mutations that appear to be causative in loci already known to be involved in XLMR, as well as new data about those loci, and make inferences about the role of the different classes of variants in these diseases.

    • Patrick S Tarpey
    • Raffaella Smith
    • Michael R Stratton
    Research
    Nature Genetics
    Volume: 41, P: 535-543