18 research outputs found
Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos
The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P=6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1 and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci
Magnesium nebulization utilization in management of pediatric asthma (MagNUM PA) trial: study protocol for a randomized controlled trial
Shape coexistence in neutron-deficient Hg-188 investigated via lifetime measurements
Shape coexistence in the region has been established in
mercury, lead and polonium isotopes. Even-even mercury isotopes with present multiple fingerprints of this phenomenon, which seems to be
no longer present for . According to a number of theoretical
calculations, shape coexistence is predicted in the Hg isotope. The
Hg nucleus was populated using two different fusion-evaporation
reactions with two targets, Gd and Gd, and a beam of S,
provided by the Tandem-ALPI accelerators complex at the Laboratori Nazionali di
Legnaro. The channels of interest were selected using the information from the
Neutron Wall array, while the rays were detected using the GALILEO
-ray array. The lifetimes of the excited states were determined using
the Recoil Distance Doppler-Shift method, employing the dedicated GALILEO
plunger device. Using the two-bands mixing and rotational models, the
deformation of the pure configurations was obtained from the experimental
results. The extracted transition strengths were compared with those calculated
with the state-of-the-art symmetry-conserving configuration-mixing (SCCM) and
five-dimentional collective Hamiltonian (5DCH) approaches in order to shed
light on the nature of the observed structures in the Hg nucleus. An
oblate, a normal- and a super-deformed prolate bands were predicted and their
underlying shell structure was also discussed.Comment: v1: 13 pages, 10 figures, comparison between IBM-CM and SCCM
calculations; v2: 16 pages, 13 figures, discussion on the mixing amplitudes
from the experimental B(E2) values, comparison between SCCM and 5DCH
calculation
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case
g-factor measurements of isomeric states in (174)w
© Owned by the authors, published by EDP Sciences - SIF, 2016. The experimental setup GAMIPE used for gyro magnetic factor measurements at Laboratori Nazionali di Legnaro and a recent experimental work regarding K-isomers in 174 W are described. Aim of the experiment is to study the detailed structure of the isomeric states wave functions, by the measurement of the magnetic dipole moments. This piece of information can provide interesting hints for theoretical models. Preliminary results concerning the population of the isomers of interest and half-lives are presented.status: publishe
Perfil das admissões em uma unidade de terapia intensiva obstétrica de uma maternidade brasileira
Improved survival among colon cancer patients with increased differentially expressed pathways
Lifetime measurements in neutron-rich Co-63,Co-65 isotopes using the AGATA demonstrator
Lifetimes of the low-lying (11/2-) states in 63,65Co have been measured employing the recoil distance doppler shift method (RDDS) with the AGATA γ-ray array and the PRISMA mass spectrometer. These nuclei were populated via a multinucleon transfer reaction by bombarding a 238U target with a beam of 64Ni. The experimental B(E2) reduced transition probabilities for 63,65Co are well reproduced by large-scale shell-model calculations that predict a constant trend of the B(E2) values up to the N=40 67Co isotop