A transforming mutation in the pleckstrin homology domain of AKT1 in cancer
Article Abstract:
The identification of a somatic mutation in human breast, colorectal and ovarian cancers that has resulted in a glutamic acid to lysine substitution at amino acid 17 (E17K) in the lipid-binding pocket of v-akt murine thymoma viral oncogene homologue 1 (AKT1) kinase is reported. The mutation has shown a direct role of AKT1 in human cancer and the E17K substitution has decreased the sensitivity to an allosteric kinase inhibitor.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2007
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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
Article Abstract:
Research demonstrates that mutations in lamin A cause the Hutchinson-Gilford progeria syndrome leading to premature aging. Results show that the syndrome gene is resides in chromosome 1q and lamin A sequence indicates that 18 out of 20 cases of the disorder harbour an identical de novo single-base substitution within exon 11. Furthermore, fibroblasts cells show abnormalities of the nuclear membrane.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2003
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The cause for a US prospective cohort study of genes and environment
Article Abstract:
A change in the environment, in combination d with genetic disposition, has produced most recent epidemics of chronic disease. Replication of associations and estimation of their magnitude, consistency and temporality are best obtained through prospective population-based cohort studies.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2004
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