6,653 research outputs found
Phylogenetics, Biogeography, and Patterns of Diversification of GeckosAcross the Sunda Shelf with an Emphasis on the GenusCnemaspis (Strauch, 1887)
In my dissertation I investigate two genera of geckos (Cyrtodactylus and Cnemaspis) that are distributed across Southeast Asia with an emphasis on Cnemaspis. In Chapter 1 I use a multilocus dataset, ancestral area analyses, and molecular clock dating to generate a species level time calibrated phylogeny to test the monophyly of Cyrtodactylus and to identify major biogeographical patterns. I identified that Cyrtodactylus is monophyletic only if the the Sri Lankan genus often recognized as Geckoella is included. The results of the Biogeographical analyses reveal a west to east pattern of diversification. Chapter 2 I use a traditional morphological dataset to describe a new species of Cnemaspis from Peninsular Malaysia. In Chapter 3 my colleagues and I use a multilocus dataset and morphological characters to revise the taxonomy of all Cnemaspis species and put this in a phylogenetic context. This resulted in the description of eight new species and allowed us to generate hypotheses relating to parallel evolution, diversity, and biogeography. In Chapter 4 I use additional taxon sampling of Cnemaspis from Thailand to generate a more complete phylogeny and use an integrative taxonomic approach to describe three new species. In Chapter 5 I used high throughput sequencing of sequence capture and Ultra Conserved Elements to test for a rapid radiation in Cnemaspis and to investigate biogeographic hypotheses relating to the diversification and evolution of Cnemaspis. I determined that there was a temporal rapid radiation of Cnemaspis that coincides with the temporal diversification of other terrestrial vertebrates across Sundaland. The results of these studies indicate that the species diversity of Cnemaspis is underestimated and that both genera have experienced similar temporal and spatial diversification coinciding with major vicariant events during the Eocene and the Oligocene-Miocene transition
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PATH-38. ROSETTE-FORMING GLIONEURONAL TUMOR IS DEFINED BY FGFR1 ACTIVATING ALTERATIONS WITH FREQUENT ACCOMPANYING PI3K AND MAPK PATHWAY MUTATIONS
Abstract
BACKGROUND
Rosette-forming glioneuronal tumor (RGNT) is an uncommon CNS tumor originally described in the fourth ventricle characterized by a low-grade glial neoplasm admixed with a rosette-forming neurocytic component.
METHODS
We reviewed clinicopathologic features of 42 patients with RGNT. Targeted next-generation sequencing was performed, and genome-wide methylation profiling is underway.
RESULTS
The 20 male and 22 female patients had a mean age of 25 years (range 3–47) at time of diagnosis. Tumors were located within or adjacent to the lateral ventricle (n=16), fourth ventricle (15), third ventricle (9), and spinal cord (2). All 31 tumors assessed to date contained FGFR1 activating alterations, either in-frame gene fusion, kinase domain tandem duplication, or hotspot missense mutation in the kinase domain (p.N546 or p.K656). While 7 of these 31 tumors harbored FGFR1 alterations as the solitary pathogenic event, 24 contained additional pathogenic alterations within PI3-kinase or MAP kinase pathway genes: 5 with additional PIK3CA and NF1 mutations, 4 with PIK3CA mutation, 3 with PIK3R1 mutation (one of which also contained focal RAF1 amplification), 5 with PTPN11 mutation (one with additional PIK3R1 mutation), and 2 with NF1 deletion. The other 5 cases demonstrated anaplastic features including hypercellularity and increased mitotic activity. Among these anaplastic cases, 3 harbored inactivating ATRX mutations and two harbored CDKN2A homozygous deletion, in addition to the FGFR1 alterations plus other PI3-kinase and MAP kinase gene mutations seen in those RGNT without anaplasia.
CONCLUSION
Independent of ventricular location, RGNT is defined by FGFR1 activating mutations or rearrangements, which are frequently accompanied by mutations involving PIK3CA, PIK3R1, PTPN11, NF1, and KRAS. Whereas pilocytic astrocytoma and ganglioglioma are characterized by solitary activating MAP kinase pathway alterations (e.g. BRAF fusion or mutation), RGNT are genetically more complex with dual PI3K-Akt-mTOR and Ras-Raf-MAPK pathway activation. Rare anaplastic examples may show additional ATRX and/or CDKN2A inactivation
Brain-derived neurotrophic factor prevents dendritic retraction of adult mouse retinal ganglion cells
We used cultured adult mouse retinae as a model system to follow and quantify the retraction of dendrites using diolistic labelling of retinal ganglion cells (RGCs) following explantation. Cell death was monitored in parallel by nuclear staining as ‘labelling’ with RGC and apoptotic markers was inconsistent and exceedingly difficult to quantify reliably. Nuclear staining allowed us to delineate a lengthy time window during which dendrite retraction can be monitored in the absence of RGC death. The addition of brain-derived neurotrophic factor (BDNF) produced a marked reduction in dendritic degeneration, even when application was delayed for 3 days after retinal explantation. These results suggest that the delayed addition of trophic factors may be functionally beneficial before the loss of cell bodies in the course of conditions such as glaucoma
LSST Science Book, Version 2.0
A survey that can cover the sky in optical bands over wide fields to faint
magnitudes with a fast cadence will enable many of the exciting science
opportunities of the next decade. The Large Synoptic Survey Telescope (LSST)
will have an effective aperture of 6.7 meters and an imaging camera with field
of view of 9.6 deg^2, and will be devoted to a ten-year imaging survey over
20,000 deg^2 south of +15 deg. Each pointing will be imaged 2000 times with
fifteen second exposures in six broad bands from 0.35 to 1.1 microns, to a
total point-source depth of r~27.5. The LSST Science Book describes the basic
parameters of the LSST hardware, software, and observing plans. The book
discusses educational and outreach opportunities, then goes on to describe a
broad range of science that LSST will revolutionize: mapping the inner and
outer Solar System, stellar populations in the Milky Way and nearby galaxies,
the structure of the Milky Way disk and halo and other objects in the Local
Volume, transient and variable objects both at low and high redshift, and the
properties of normal and active galaxies at low and high redshift. It then
turns to far-field cosmological topics, exploring properties of supernovae to
z~1, strong and weak lensing, the large-scale distribution of galaxies and
baryon oscillations, and how these different probes may be combined to
constrain cosmological models and the physics of dark energy.Comment: 596 pages. Also available at full resolution at
http://www.lsst.org/lsst/sciboo
Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial
Background
Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy
Azimuthally anisotropic emission of low-momentum direct photons in AuAu collisions at GeV
The PHENIX experiment at the Relativistic Heavy Ion Collider has measured 2nd
and 3rd order Fourier coefficients of the azimuthal distributions of direct
photons emitted at midrapidity in AuAu collisions at
GeV for various collision centralities. Combining two different analysis
techniques, results were obtained in the transverse momentum range of
GeV/. At low the second-order coefficients, , are
similar to the ones observed in hadrons. Third order coefficients, , are
nonzero and almost independent of centrality. These new results on and
, combined with previously published results on yields, are compared to
model calculations that provide yields and asymmetries in the same framework.
Those models are challenged to explain simultaneously the observed large yield
and large azimuthal anisotropies.Comment: 552 authors, 15 pages, 9 figures, 3 tables, 2007 and 2010 data. v2 is
version accepted for publication by Phys. Rev. C. Plain text data tables for
the points plotted in figures for this and previous PHENIX publications are
(or will be) publicly available at http://www.phenix.bnl.gov/papers.htm
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