We have identified the presence of chromosomal rearrangements in the 9q34.3 region in two Tuberous sclerosis (TSC) families. We previously reported the use of fluorescence in situ hybridization to identify the presence of a chromosome 9q34.3 duplication in a sporadic case of TSC. We have now defined a chromosomal breakpoint flanking th~ duplication through pulsed field gel electrophoresis (~FGE) . We have also utilized PFGE to define the ~hromosomal rearrangement present in a second TSC family, (TS 33). In TS family 33 we demonstrated the presence of a novel Clar fragment with probes D9Sl0 and DBH, indicating that the TSCl gene mapped within 240kb of DBH and D9Sl0. We previously reported that the D9Sl0 locus contains a gene homologous to the Vav oncogene (Smith et al. , Ann Hurn. Genet. 58: 235-236 1994). In normal individuals, D9Sl0 and DBH. map to the same ClaI fragment. SacII sites lie within this ClaI fragment so that DBH and the D9S122 locus map to a 120kb SacII fragment while D9Sl0 maps to a lOOkb SacII fragments. Using a unique sequence probe which maps adjacent to the telomeric end of the 095122 locus,· we detected a novel fragment in the sporadic case of TSC described above. This finding indicates that the TSCl gene maps within 120kb of the D9Sl22 locus. These rearrangements have facilitated fine mapping of the TSCl locus and their availability will facilitate identificatior:i of the TSCl gene.

Gasification of comingled biomass and coal feedstock is an effective means of reducing the net life cycle greenhouse gas emissions in the coal gasification process while maintaining its inherent benefits of abundance and high-energy density. However, feeding a comingled biomass and coal feedstock into a pressurized gasification reactor poses a technical problem. Conventional dry feeding systems, such as lock hoppers and pressurized pneumatic transport, are complex and operationally expensive. A slurry formation of comingled biomass and coal feedstock can be easily fed into the gasification reactor but, in normal conditions, only allows for a small portion of biomass in the mixture. This is a consequence of the hydroscopic and hydrophilic nature of the biomass. The College of Engineering Center for Environmental Research and Technology (CE-CERT) at the University of California, Riverside, has developed a process producing high solid content biomass-water slurry using a hydrothermal pretreatment process. In this paper, the systematic investigation of the rheological properties (e.g., shear rate, shear stress, and viscosity) of coal-water slurries, biomass-water slurries, and comingled biomass and coal-water slurries is reported. The solid particle size distribution in the slurry and the initial solid/water ratio were investigated to determine the impact on shear rate and viscosity. This was determined using a rotational rheometer. The experimental results show that larger particle size offers better pumpability. The presence of a high percentage of biomass in solid form significantly decreases slurry pumpability. It is also shown that the solid loading of the biomass-water slurry can be increased to approximately 35 wt%with viscosity of less than 0.7 Pa 3 s after the pretreatment process. The solid loading increased to approximately 45 wt%when the biomass is comingled with coal.

Reactive oxygen species (ROS) are a family of compounds that can oxidatively damage cellular macromolecules and may influence lifespan. Sirtuins are a conserved family of nicotinamide adenine dinucleotide (NAD+)-dependent protein deacetylases that regulate

In order to enable the large-scale production of biofuels or chemicals from lignocellulosic biomass, a consistent and affordable year-round supply of lignocellulosic feedstocks is essential. Feedstock blending and/or densification offers one promising solution to overcome current challenges on biomass supply, i.e., low energy and bulk densities and significant compositional variations. Therefore, it is imperative to develop conversion technologies that can process mixed pelleted biomass feedstocks with minimal negative impact in terms of overall performance of the relevant biorefinery unit operations: pretreatment, fermentable sugar production, and fuel titers. We processed the mixture of four feedstocks—corn stover, switchgrass, lodgepole pine, and eucalyptus (1:1:1:1 on dry weight basis)—in flour and pellet form using ionic liquid (IL) 1-ethyl-3-methylimidazolium acetate, dilute sulfuric acid (DA), and soaking in aqueous ammonia (SAA) pretreatments. Commercial enzyme mixtures, including cellulases and hemicellulases, were then applied to these pretreated feedstocks at low to moderate enzyme loadings to determine hydrolysis efficiency. Results show significant variations on the chemical composition, crystallinity, and enzymatic digestibility of the pretreated feedstocks across the different pretreatment technologies studied. The advanced biofuel isopentenol was produced during simultaneous saccharification and fermentation (SSF) of pretreated feedstocks using an engineered Escherichia coli strain. Results show that IL pretreatment liberates the most sugar during enzymatic saccharification, and in turn led to the highest isopentenol titer as compared to DA and SAA pretreatments. This study provides insights on developing biorefinery technologies that produce advanced biofuels based on mixed feedstock streams.

For serial femtosecond crystallography at X-ray free-electron lasers, which entails collection of single-pulse diffraction patterns from a constantly refreshed supply of microcrystalline sample, delivery of the sample into the X-ray beam path while maintaining low background remains a technical challenge for some experiments, especially where this methodology is applied to relatively low-ordered samples or those difficult to purify and crystallize in large quantities. This work demonstrates a scheme to encapsulate biological samples using polymer thin films and graphene to maintain sample hydration in vacuum conditions. The encapsulated sample is delivered into the X-ray beam on fixed targets for rapid scanning using the Roadrunner fixed-target system towards a long-term goal of low-background measurements on weakly diffracting samples. As a proof of principle, we used microcrystals of the 24 kDa rapid encystment protein (REP24) to provide a benchmark for polymer/graphene sandwich performance. The REP24 microcrystal unit cell obtained from our sandwiched in-vacuum sample was consistent with previously established unit-cell parameters and with those measured by us without encapsulation in humidified helium, indicating that the platform is robust against evaporative losses. While significant scattering from water was observed because of the sample-deposition method, the polymer/graphene sandwich itself was shown to contribute minimally to background scattering.

Detailed spectroscopy of the neutron-unbound nucleus ^{28}F has been performed for the first time following proton/neutron removal from ^{29}Ne/^{29}F beams at energies around 230  MeV/nucleon. The invariant-mass spectra were reconstructed for both the ^{27}F^{(*)}+n and ^{26}F^{(*)}+2n coincidences and revealed a series of well-defined resonances. A near-threshold state was observed in both reactions and is identified as the ^{28}F ground state, with S_{n}(^{28}F)=-199(6)  keV, while analysis of the 2n decay channel allowed a considerably improved S_{n}(^{27}F)=1620(60)  keV to be deduced. Comparison with shell-model predictions and eikonal-model reaction calculations have allowed spin-parity assignments to be proposed for some of the lower-lying levels of ^{28}F. Importantly, in the case of the ground state, the reconstructed ^{27}F+n momentum distribution following neutron removal from ^{29}F indicates that it arises mainly from the 1p_{3/2} neutron intruder configuration. This demonstrates that the island of inversion around N=20 includes ^{28}F, and most probably ^{29}F, and suggests that ^{28}O is not doubly magic.

Measurements of two-particle correlations on transverse momentum pt for Au-Au collisions at sqrt sNN = 130 GeV are presented. Significant large-momentum-scale correlations are observed for charged primary hadrons with 0.15 <_ pt <_ 2 GeV/c and pseudorapidity lbar eta rbar <_ 1.3. Such correlations were not observed in a similar study at lower energy and are not predicted by theoretical collision models. Their direct relation to mean-pt fluctuations measured in the same angular acceptance is demonstrated. Positive correlations are observed for pairs of particles which have large pt values while negative correlations occur for pairs in which one particle has large pt and the other has much lower pt. The correlation amplitudes per final state particle increase with collision centrality. The 3 observed correlations are consistent with a scenario in which the transverse momentum of hadrons

We report on new measurements of inclusive J/ψ polarization at midrapidity in p+p collisions at s=200 GeV by the STAR experiment at the Relativistic Heavy Ion Collider. The polarization parameters, λθ, λφ, and λθφ, are measured as a function of transverse momentum (pT) in both the helicity and Collins-Soper (CS) reference frames within pT<10 GeV/c. Except for λθ in the CS frame at the highest measured pT, all three polarization parameters are consistent with 0 in both reference frames without any strong pT dependence. Several model calculations are compared with data, and the one using the Color Glass Condensate effective field theory coupled with nonrelativistic QCD gives the best overall description of the experimental results, even though other models cannot be ruled out due to experimental uncertainties.

The differential cross section and spin asymmetries for neutral pions produced within the intermediate pseudorapidity range 0.8<η<2.0 in polarized proton-proton collisions at s=200 GeV are presented. Neutral pions were detected using the end cap electromagnetic calorimeter in the STAR detector at RHIC. The cross section was measured over a transverse momentum range of 5

We report systematic measurements of bulk properties of the system created in Au+Au collisions at sNN=14.5 GeV recorded by the STAR detector at the Relativistic Heavy Ion Collider (RHIC). The transverse momentum spectra of π±, K±, and p(p) are studied at midrapidity (|y|<0.1) for nine centrality intervals. The centrality, transverse momentum (pT), and pseudorapidity (η) dependence of inclusive charged particle elliptic flow (v2), and rapidity-odd charged particles directed flow (v1) results near midrapidity are also presented. These measurements are compared with the published results from Au+Au collisions at other energies, and from Pb+Pb collisions at sNN=2.76 TeV. The results at sNN=14.5 GeV show similar behavior as established at other energies and fit well in the energy dependence trend. These results are important as the 14.5-GeV energy fills the gap in μB, which is of the order of 100 MeV, between sNN=11.5 and 19.6 GeV. Comparisons of the data with UrQMD and AMPT models show poor agreement in general.