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4 results on '"Heath, Karen E."'

2. KLF6, a candidate tumor suppressor gene mutated in prostate cancer. (Reports)

Author

Narla, Goutham, Heath, Karen E., Reeves, Helen L., Li, Dan, Giono, Luciana E., Kimmelman, Alec C., Glucksman, Marc J., Narla, Jyothsna, Eng, Francis J., Chan, Andrew M., Ferrari, Anna C., Martignetti, John A., and Friedman, Scott L.

Subjects
Prostate cancer -- Genetic aspects, Science and technology
Abstract

Kruppel-like factor 6 (KLF6) is a zinc finger transcription factor of unknown function. Here, we show that the KLF6 gene is mutated in a subset of human prostate cancer. Loss-of-heterozygosity analysis revealed that one KLF6 allele is deleted in 77% (17 of 22) of primary prostate tumors. Sequence analysis of the retained KLF6 allele revealed mutations in 71% of these tumors. Functional studies confirm that whereas wild-type KLF6 up-regulates p21 (WAF1/CIP1) in a p53-independent manner and significantly reduces cell proliferation, tumor-derived KLF6 mutants do not. Our data suggest that KLF6 is a tumor suppressor gene involved in human prostate cancer., Prostate cancer is a leading cause of cancer death in men, with more than 198,000 new cases and 32,000 deaths annually in the United States alone. Loss of heterozygosity (LOH) [...]

Published
2001

3. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-Like syndromes

Author

Heath, Karen E., Campos-Barros, Angel, Toren, Amos, Rozenfeld-Granot, Galit, Carlsson, Lena E., Savige, Judy, Denison, Joyce C., Gregory, Martin C., White, James G., Barker, David F, Greinacher, Andreas, Epstein, Charles J., Glucksman, Marc J., and Martignetti, John A.

Subjects
Gene mutations -- Analysis, Myosin -- Genetic aspects, Thrombocytopenia -- Genetic aspects, Chromosome abnormalities -- Genetic aspects, Structure-activity relationships (Biochemistry) -- Analysis, Biological sciences
Published
2001

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