419 research outputs found
Early diagnosis remains the most reliable way to cure chidren with melanoma: Response
No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48703/1/20398_ftp.pd
A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein
Rearrangements involving the MLL gene at chromosome band 11q23 are common in infant acute myeloid leukemias (AMLs). We recently encountered an infant patient with rapidly progressive AML whose leukemic cells harbored a previously undescribed MLL rearrangement involving an inversion of 11q [inv(11)(q14q23)]. We used panhandle PCR to determine that this rearrangement juxtaposed the MLL ( M ixed- L ineage L eukemia) gene to the CALM ( C lathrin A ssembly L ymphoid M yeloid leukemia) gene at 11q14–q21. The CALM protein participates in recruitment of clathrin to internal membrane surfaces, thereby regulating vesicle formation in both endocytosis and intracellular protein transport. Intriguingly, CALM has been identified in other cases of AML as a translocation partner for the AF10 gene, which has independently been found to be an MLL partner in AML. We identified the MLL - CALM fusion transcript (but not the reciprocal CALM - MLL transcript) in leukemia cell RNA by RT-PCR. The predicted 1803 amino acid MLL-CALM fusion protein includes amino-terminal MLL domains involved in transcriptional repression, and carboxy-terminal CALM-derived clathrin-binding domains. The genomic breakpoint in MLL is in the 7th intron (within the breakpoint cluster region); the corresponding CALM breakpoint is in the 7th CALM intron. In contrast, breakpoints in CALM - AF10 translocations lie in the 17th–19th CALM introns (30 kb downstream); also, in these translocations, CALM provides the 5′ end of the fusion transcript. Together with its previously recognized association with AF10 in AML, the identification of CALM as an MLL fusion partner suggests that interference with clathrin-mediated trafficking pathways may be an underappreciated mechanism in leukemogenesis. © 2002 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/35133/1/10136_ftp.pd
The C4 Clustering Algorithm: Clusters of Galaxies in the Sloan Digital Sky Survey
We present the "C4 Cluster Catalog", a new sample of 748 clusters of galaxies
identified in the spectroscopic sample of the Second Data Release (DR2) of the
Sloan Digital Sky Survey (SDSS). The C4 cluster--finding algorithm identifies
clusters as overdensities in a seven-dimensional position and color space, thus
minimizing projection effects which plagued previous optical clusters
selection. The present C4 catalog covers ~2600 square degrees of sky with
groups containing 10 members to massive clusters having over 200 cluster
members with redshifts. We provide cluster properties like sky location, mean
redshift, galaxy membership, summed r--band optical luminosity (L_r), velocity
dispersion, and measures of substructure. We use new mock galaxy catalogs to
investigate the sensitivity to the various algorithm parameters, as well as to
quantify purity and completeness. These mock catalogs indicate that the C4
catalog is ~90% complete and 95% pure above M_200 = 1x10^14 solar masses and
within 0.03 <=z <= 0.12. The C4 algorithm finds 98% of X-ray identified
clusters and 90% of Abell clusters within 0.03 <= z <= 0.12. We show that the
L_r of a cluster is a more robust estimator of the halo mass (M_200) than the
line-of-sight velocity dispersion or the richness of the cluster. L_r. The
final SDSS data will provide ~2500 C4 clusters and will represent one of the
largest and most homogeneous samples of local clusters.Comment: 32 pages of figures and text accepted in AJ. Electronic version with
additional tables, links, and figures is available at
http://www.ctio.noao.edu/~chrism/c
PICALM modulates autophagy activity and tau accumulation.
Genome-wide association studies have identified several loci associated with Alzheimer's disease (AD), including proteins involved in endocytic trafficking such as PICALM/CALM (phosphatidylinositol binding clathrin assembly protein). It is unclear how these loci may contribute to AD pathology. Here we show that CALM modulates autophagy and alters clearance of tau, a protein which is a known autophagy substrate and which is causatively linked to AD, both in vitro and in vivo. Furthermore, altered CALM expression exacerbates tau-mediated toxicity in zebrafish transgenic models. CALM influences autophagy by regulating the endocytosis of SNAREs, such as VAMP2, VAMP3 and VAMP8, which have diverse effects on different stages of the autophagy pathway, from autophagosome formation to autophagosome degradation. This study suggests that the AD genetic risk factor CALM modulates autophagy, and this may affect disease in a number of ways including modulation of tau turnover.We are grateful for funding from a Wellcome Trust Principal Research Fellowship
(D.C.R.), a Wellcome Trust/MRC Strategic Grant on Neurodegeneration (D.C.R.,
C.J.O’.K.), a Wellcome Trust Strategic Award to Cambridge Institute for Medical
Research, Wellcome Trust Studentship (E.Z.), the Alzheimer’s disease Biomedical
Research Unit and Addenbrooke’s Hospital, the Tau Consortium, a fellowship from
University of Granada (A.L.R.), a V Foundation/Applebee’s Research Grant (D.S.W.) and
NCI R01 CA 109281 (D.S.W.).This is the final published version. It is also available from Nature Publishing at http://www.nature.com/ncomms/2014/140922/ncomms5998/full/ncomms5998.html
Burkitt lymphoma in a child with osteogenesis imperfecta
No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48778/1/20439_ftp.pd
Probing the Roughness of Porphyrin Thin Films with X-ray Photoelectron Spectroscopy
Thin-film growth of molecular systems is of interest for many applications, such as for instance organic electronics. In this study, we demonstrate how X-ray photoelectron spectroscopy (XPS) can be used to study the growth behavior of such molecular systems. In XPS, coverages are often calculated assuming a uniform thickness across a surface. This results in an error for rough films, and the magnitude of this error depends on the kinetic energy of the photoelectrons analyzed. We have used this kinetic-energy dependency to estimate the roughnesses of thin porphyrin films grown on rutile TiO2(110). We used two different molecules: cobalt (II) monocarboxyphenyl-10,15,20-triphenylporphyrin (CoMCTPP), with carboxylic-acid anchor groups, and cobalt (II) tetraphenylporphyrin (CoTPP), without anchor groups. We find CoMCTPP to grow as rough films at room temperature across the studied coverage range, whereas for CoTPP the first two layers remain smooth and even; depositing additional CoTPP results in rough films. Although, XPS is not a common technique for measuring roughness, it is fast and provides information of both roughness and thickness in one measurement.Fil: Kataev, Elmar. Universitat Erlangen-Nuremberg; AlemaniaFil: Wechsler, Daniel. Universitat Erlangen-Nuremberg; AlemaniaFil: Williams, Federico José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química, Física de los Materiales, Medioambiente y Energía. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química, Física de los Materiales, Medioambiente y Energía; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Inorgánica, Analítica y Química Física; ArgentinaFil: Köbl, Julia. Universitat Erlangen-Nuremberg; AlemaniaFil: Tsud, Natalia. Karlova Univerzita (cuni); República ChecaFil: Franchi, Stefano. Istituto di Struttura della Materia; Italia. Consiglio Nazionale delle Ricerche; ItaliaFil: Steinruck, Hans Peter. Universitat Erlangen-Nuremberg; AlemaniaFil: Lytken, Ole. Universitat Erlangen-Nuremberg; Alemani
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
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