Development of design criteria for an electrochemical water reclamation system

Electrochemical system design to recover water from human urin

Research on processes for utilization of lunar resources quarterly report, 16 jul. - 15 oct. 1964

Lunar resource utilization - silicate reduction unit and carbon monoxide reduction reacto

Research on processes for utilization of lunar resources quarterly report no. 0765-03-3, 16 jan. - 15 apr. 1965

Silicate reduction process and experimental operation of resistance heated reactor, and effect of long term operation of carbon monoxide reduction reactor on catalyst lif

Research on processes for utilization of lunar resources quarterly report, 16 oct. 1964 - 15 jan. 1965

Silicate reduction process and effect of long term operation of carbon monoxide reduction reactor on catalyst lif

A genome-wide scan for common alleles affecting risk for autism

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C

Assessment of the ITER high-frequency magnetic diagnostic set

The ITER high-frequency (HF) magnetic diagnostic system has to provide essential measurements of MHD instabilities with vertical bar delta B-MEAS/B-POL vertical bar similar to 10(-4) (similar to 1 G) for frequencies up to 2 MHz to resolve toroidal mode numbers (n) in the range vertical bar n vertical bar = 10 to vertical bar n vertical bar = 50. A review of the measurement requirements for HF MHD instabilities in ITER was initiated during the TW4 work-program and led to significant interest for physics and real-time control issues in measuring modes with vertical bar delta(MEAS)vertical bar as low as similar to 10(-3) G at the position of the sensors, with vertical bar n vertical bar <= 30 and poloidal mode numbers vertical bar m vertical bar similar to 2 vertical bar n vertical bar up to vertical bar n vertical bar similar to 15, for a frequency range extending up to similar to 500 kHz. We have examined the ability of the current ITER design for the individual sensors and the diagnostic system as a whole to meet these needs, and have explored what adjustments to the design (of the individual sensors and/or of the system as a whole) or to the requirements would be needed to meet them when considering different hypothesis for the financial costs and risk management over the ITER life-time. First, we find that the proposed diagnostic layout, with 168 sensors in total, does not meet the more stringent measurement requirements and risk management criteria: these can only be met by a revision of the design requiring 350-500 sensors, depending on different costing and risk management options. Second, we find that the current design for the ITER HF Mirnov-type pick-up coil could be usefully revised. (C) 2011 Published by Elsevier B.V

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, however, the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene, in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability (ID). A 167 Kb microdeletion spanning exon 1 was found in two brothers, one with ASD the other with learning disability and ASD features, and a 90 Kb microdeletion spanning the entire gene was found in three males with ID in a second family. In 900 ASD and 208 ID male probands we identified seven different missense changes in eight probands, all male and inherited from unaffected mothers, and not found in controls. Two of the ASD individuals with missense changes also carried a de novo deletion at another ASD-susceptibility locus (DPYD and DPP6), suggesting complex genetic contributions. In additional males with ASD, we identified deletions in the 5’ flanking region of PTCHD1 disrupting a complex non-coding RNA and potential regulatory elements; equivalent changes were not found in male control individuals (p=1.2 ×10-5). Systematic screening at PTCHD1 and 5’-flanking regions, suggests involvement of this locus in ~1% of ASD and ID individuals

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P≤2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P≤3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P≤4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

International audienceAutism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs