432 research outputs found
Partial Mapping of the IL-10 Promoter Region: Identification of New SNPs and Association with Tuberculosis Outcome in Brazilians
Prevalence and spatial analysis of antileptospiral agglutinins in dairy cattle - Microregion of Sete Lagoas, Minas Gerais, 2009/2010
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation
of harmful mutations in the human population. We hypothesized that men with spermatogenic impairment, a disease with
unknown genetic architecture and a common cause of male infertility, are enriched for rare deleterious mutations
compared to men with normal spermatogenesis. After assaying genomewide SNPs and CNVs in 323 Caucasian men with
idiopathic spermatogenic impairment and more than 1,100 controls, we estimate that each rare autosomal deletion
detected in our study multiplicatively changes a man’s risk of disease by 10% (OR 1.10 [1.04–1.16], p,261023), rare X-linked
CNVs by 29%, (OR 1.29 [1.11–1.50], p,161023), and rare Y-linked duplications by 88% (OR 1.88 [1.13–3.13], p,0.03). By
contrasting the properties of our case-specific CNVs with those of CNV callsets from cases of autism, schizophrenia, bipolar
disorder, and intellectual disability, we propose that the CNV burden in spermatogenic impairment is distinct from the
burden of large, dominant mutations described for neurodevelopmental disorders. We identified two patients with
deletions of DMRT1, a gene on chromosome 9p24.3 orthologous to the putative sex determination locus of the avian ZW
chromosome system. In an independent sample of Han Chinese men, we identified 3 more DMRT1 deletions in 979 cases of
idiopathic azoospermia and none in 1,734 controls, and found none in an additional 4,519 controls from public databases.
The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human
spermatogenic failure (frequency of 0.38% in 1306 cases and 0% in 7,754 controls, p = 6.261025). Our study identifies other
recurrent CNVs as potential causes of idiopathic azoospermia and generates hypotheses for directing future studies on the
genetic basis of male infertility and IVF outcomes.This work was partially funded by the Portuguese Foundation for Science and Technology FCT/MCTES (PIDDAC) and co-financed by European funds (FEDER) through the COMPETE program, research grant PTDC/SAU-GMG/101229/2008. IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology, and Higher Education and is partially supported by FCT. AML is the recipient of a postdoctoral fellowship from FCT (SFRH/BPD/73366/2010). CO is supported by a grant from the United States National Institutes of Health (R01 HD21244), JDS is supported by Damon Runyon Clinical Investigator Award, Alex's Lemonade Stand Foundation Epidemiology Award, and the Eunice Kennedy Shriver Children's Health Research Career Development Award NICHD 5K12HD001410. Support for humans studies and specimens were provided by the NIH/NIDDK George M. O'Brien Center for Kidney Disease Kidney Translational Research Core (P30DK079333) grant to Washington University. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Prevalência, distribuição espacial e fatores de risco para cisticercose bovina no estado de São Paulo
Search for Higgs bosons decaying to tautau pairs in ppbar collisions at sqrt(s) = 1.96 TeV
We present a search for the production of neutral Higgs bosons decaying into
tautau pairs in ppbar collisions at a center-of-mass energy of 1.96 TeV. The
data, corresponding to an integrated luminosity of 5.4 fb-1, were collected by
the D0 experiment at the Fermilab Tevatron Collider. We set upper limits at the
95% C.L. on the product of production cross section and branching ratio for a
scalar resonance decaying into tautau pairs, and we then interpret these limits
as limits on the production of Higgs bosons in the minimal supersymmetric
standard model (MSSM) and as constraints in the MSSM parameter space.Comment: 7 pages, 5 figures, submitted to PL
Measurement of the photon-jet production differential cross section in collisions at \sqrt{s}=1.96~\TeV
We present measurements of the differential cross section dsigma/dpT_gamma
for the inclusive production of a photon in association with a b-quark jet for
photons with rapidities |y_gamma|< 1.0 and 30<pT_gamma <300 GeV, as well as for
photons with 1.5<|y_gamma|< 2.5 and 30< pT_gamma <200 GeV, where pT_gamma is
the photon transverse momentum. The b-quark jets are required to have pT>15 GeV
and rapidity |y_jet| < 1.5. The results are based on data corresponding to an
integrated luminosity of 8.7 fb^-1, recorded with the D0 detector at the
Fermilab Tevatron Collider at sqrt(s)=1.96 TeV. The measured cross
sections are compared with next-to-leading order perturbative QCD calculations
using different sets of parton distribution functions as well as to predictions
based on the kT-factorization QCD approach, and those from the Sherpa and
Pythia Monte Carlo event generators.Comment: 10 pages, 9 figures, submitted to Phys. Lett.
Limits on anomalous trilinear gauge boson couplings from WW, WZ and Wgamma production in pp-bar collisions at sqrt{s}=1.96 TeV
We present final searches of the anomalous gammaWW and ZWW trilinear gauge
boson couplings from WW and WZ production using lepton plus dijet final states
and a combination with results from Wgamma, WW, and WZ production with leptonic
final states. The analyzed data correspond to up to 8.6/fb of integrated
luminosity collected by the D0 detector in pp-bar collisions at sqrt{s}=1.96
TeV. We set the most stringent limits at a hadron collider to date assuming two
different relations between the anomalous coupling parameters
Delta\kappa_\gamma, lambda, and Delta g_1^Z for a cutoff energy scale Lambda=2
TeV. The combined 68% C.L. limits are -0.057<Delta\kappa_\gamma<0.154,
-0.015<lambda<0.028, and -0.008<Delta g_1^Z<0.054 for the LEP parameterization,
and -0.007<Delta\kappa<0.081 and -0.017<lambda<0.028 for the equal couplings
parameterization. We also present the most stringent limits of the W boson
magnetic dipole and electric quadrupole moments.Comment: 10 pages, 5 figures, submitted to PL
Measurement of three-jet differential cross sections d sigma-3jet / d M-3jet in p anti-p collisions at sqrt(s)=1.96 TeV
We present the first measurement of the inclusive three-jet differential
cross section as a function of the invariant mass of the three jets with the
largest transverse momenta in an event in p anti-p collisions at sqrt(s) = 1.96
TeV. The measurement is made in different rapidity regions and for different
jet transverse momentum requirements and is based on a data set corresponding
to an integrated luminosity of 0.7 fb^{-1} collected with the D0 detector at
the Fermilab Tevatron Collider. The results are used to test the three-jet
matrix elements in perturbative QCD calculations at next-to-leading order in
the strong coupling constant. The data allow discrimination between
parametrizations of the parton distribution functions of the proton.Comment: 10 pages, 4 figures, 2 tables, submitted to Phys. Lett. B, corrected
chi2 values for NNPD
Search for pair production of the scalar top quark in muon+tau final states
We present a search for the pair production of scalar top quarks
(), the lightest supersymmetric partners of the top quarks, in
collisions at a center-of-mass energy of 1.96 TeV, using data
corresponding to an integrated luminosity of {7.3 } collected with the
\dzero experiment at the Fermilab Tevatron Collider. Each scalar top quark is
assumed to decay into a quark, a charged lepton, and a scalar neutrino
(). We investigate final states arising from and
. With no significant excess of events observed above the
background expected from the standard model, we set exclusion limits on this
production process in the (,) plane.Comment: Submitted to Phys. Lett.
Measurements of inclusive W+jets production rates as a function of jet transverse momentum in ppbar collisions at sqrt{s}=1.96 TeV
This Letter describes measurements of inclusive W (--> e nu) + n jet cross
sections (n = 1-4), presented as total inclusive cross sections and
differentially in the nth jet transverse momentum. The measurements are made
using data corresponding to an integrated luminosity of 4.2 fb-1 collected by
the D0 detector at the Fermilab Tevatron Collider, and achieve considerably
smaller uncertainties on W +jets production cross sections than previous
measurements. The measurements are compared to next-to-leading order
perturbative QCD (pQCD) calculations in the n =1-3 jet multiplicity bins and to
leading order pQCD calculations in the 4-jet bin. The measurements are
generally in agreement with pQCD predictions, although certain regions of phase
space are identified where the calculations could be improved
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