2,335 research outputs found

    PHLDA3 (Pleckstrin Homology-Like Domain, family A, member 3)

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    Review on PHLDA3, with data on DNA, on the protein encoded, and where the gene is implicated

    NDRG1 (N-myc downstream regulated 1)

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    Review on NDRG1 (N-myc downstream regulated 1

    PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients

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    OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol 3-kinase CA gene encodes the p110α subunit of the phosphatidylinositol 3-kinase protein. There are phosphatidylinositol 3-kinase CA mutations in several types of human tumors, and they are frequently observed in breast cancer. However, these mutations have not been investigated in Brazilian breast cancer patients. METHODS: PCR-SSCP and direct DNA sequencing were performed to identify phosphatidylinositol 3-kinaseCA exon 9 and exon 20 mutations in 86 patients with sporadic breast cancer. The relationships between PIK3CA mutations and patient clinicopathological characteristics and survival were analyzed. The presence of the TP53 mutation was also examined. RESULTS: Twenty-three (27%) of the 86 primary breast tumors contained PIK3CA mutations. In exons 9 and 20, we identified the hotspot mutations E542K, E545K, and H1047R, and we identified two new missense mutations (I1022V and L1028S) and one nonsense (R992X) mutation. Phosphatidylinositol 3-kinase CA exon 20 mutations were associated with poor overall survival and TP53 gene mutations. CONCLUSIONS: Phosphatidylinositol 3-kinase CA mutations are common in tumors in Brazilian breast cancer patients, and phosphatidylinositol 3-kinase CA and TP53 mutations are not mutually exclusive. Phosphatidylinositol 3-kinase CA exon 20 mutations are associated with poor survival, and they may be useful biomarkers for identifying breast cancer patients with aggressive tumors and for predicting the response to treatment with PI3K pathway inhibitors

    SPARC (secreted protein acidic and cysteine-rich)

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    Review on SPARC, with data on DNA, on the protein encoded, and where the gene is implicate

    SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2)

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    Review on SOHLH2, with data on DNA, on the protein encoded, and where the gene is implicated

    PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients

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    OBJECTIVES: The phosphatidylinositol 3-kinase/AKT axis is an important cell-signaling pathway that mediates cell proliferation and survival, two biological processes that regulate malignant cell growth. The phosphatidylinositol 3-kinase CA gene encodes the p110 alpha subunit of the phosphatidylinositol 3-kinase protein. There are phosphatidylinositol 3-kinase CA mutations in several types of human tumors, and they are frequently observed in breast cancer. However, these mutations have not been investigated in Brazilian breast cancer patients. METHODS: PCR-SSCP and direct DNA sequencing were performed to identify phosphatidylinositol 3-kinaseCA exon 9 and exon 20 mutations in 86 patients with sporadic breast cancer. The relationships between PIK3CA mutations and patient clinicopathological characteristics and survival were analyzed. The presence of the TP53 mutation was also examined. RESULTS: Twenty-three (27%) of the 86 primary breast tumors contained PIK3CA mutations. In exons 9 and 20, we identified the hotspot mutations E542K, E545K, and H1047R, and we identified two new missense mutations (I1022V and L1028S) and one nonsense (R992X) mutation. Phosphatidylinositol 3-kinase CA exon 20 mutations were associated with poor overall survival and TP53 gene mutations. CONCLUSIONS: Phosphatidylinositol 3-kinase CA mutations are common in tumors in Brazilian breast cancer patients, and phosphatidylinositol 3-kinase CA and TP53 mutations are not mutually exclusive. Phosphatidylinositol 3-kinase CA exon 20 mutations are associated with poor survival, and they may be useful biomarkers for identifying breast cancer patients with aggressive tumors and for predicting the response to treatment with PI3K pathway inhibitors.Departamento de Ciencia e Tecnologia-Ministerio da Saude/Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [577587/2008-0 DECIT/CNPq]Departamento de Ciencia e TecnologiaMinisterio da Saude/Conselho Nacional de Desenvolvimento Cientifico e TecnologicoCNPq grantCNPq grant [305408/2009-7

    A candidate runaway supermassive black hole identified by shocks and star formation in its wake

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    The interaction of a runaway supermassive black hole (SMBH) with the circumgalactic medium (CGM) can lead to the formation of a wake of shocked gas and young stars behind it. Here we report the serendipitous discovery of an extremely narrow linear feature in HST/ACS images that may be an example of such a wake. The feature extends 62 kpc from the nucleus of a compact star-forming galaxy at z=0.964. Keck LRIS spectra show that the [OIII]/Hβ\beta ratio varies from ~1 to ~10 along the feature, indicating a mixture of star formation and fast shocks. The feature terminates in a bright [OIII] knot with a luminosity of 1.9x1041^{41} ergs/s. The stellar continuum colors vary along the feature, and are well-fit by a simple model that has a monotonically increasing age with distance from the tip. The line ratios, colors, and the overall morphology are consistent with an ejected SMBH moving through the CGM at high speed while triggering star formation. The best-fit time since ejection is ~39 Myr and the implied velocity is v~1600 km/s. The feature is not perfectly straight in the HST images, and we show that the amplitude of the observed spatial variations is consistent with the runaway SMBH interpretation. Opposite the primary wake is a fainter and shorter feature, marginally detected in [OIII] and the rest-frame far-ultraviolet. This feature may be shocked gas behind a binary SMBH that was ejected at the same time as the SMBH that produced the primary wake.Comment: Accepted for publication in ApJ Letters. The key data are in Figure 1: a really odd thin streak in HST images, with a complex emission line spectrum. Figure 7 is an illustration of our proposed interpretatio
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