UK PubMed Central (United Kingdom)

Epidermal growth factor receptor (EGFR) kinase domain mutations hyperactivate the kinase and confer kinase addiction of the non-small-cell lung cancer (NSCLC) tumor...Full Text Available

UK PubMed Central (United Kingdom)

E-cadherin is the primary cell adhesion molecule within the epithelium, and loss of this protein is associated with a more aggressive tumour phenotype and poorer patient prognosis in many cancers. Loss...Full Text Available

UK PubMed Central (United Kingdom)

SUMMARYThe cytolytic activity of natural killer (NK) cells is regulated by inhibitory receptors that detect the absence of self molecules on target cells. Structural studies of...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundA fundamental requirement for the exploitation of embryonic stem (ES) cells in regenerative medicine is the ability to reproducibly derive sufficient numbers of cells of...Full Text Available

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Conference excitement recalled by "CERN courier" report

KoreaScience (Korea)

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International Nuclear Information System (INIS)

Juvenile trees of kalmia derived from shoot tip culture, and seedlings of kobus were irradiated with #gamma#-rays. In kalmia, two mutation lines were obtained which had narrowlong leaves. In kobus two mutation lines were obtained. One mutation line has flowers with 7 to 13 petals. Another mutation line has yellow-green variegated leaves. (author).

UK PubMed Central (United Kingdom)

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available

British Library Electronic Table of Contents (United Kingdom)

Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search ...

UK PubMed Central (United Kingdom)

Mutations in the Drosophila gene drop-dead (drd) result in early adult lethality and neurodegeneration, but the molecular identity of the drd...Full Text Available

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Separate abstracts were prepared for 62 papers in this volume of conference proceedings. Two other papers were previously abstracted for EDB. (LEW)

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... CI Appendix D: Conference Attendees ..... D1 Appendix E: Structural Steel Connection Design on Federal Projects ..... El iv ...

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This annual report describes progress in studies on hprt mutations induced by radon or Indium 111 along with the corresponding mutation frequency, cloning and molecular spectra in human T-lymphocytes. Parallel studies on the mutation susceptibility between individuals is being investigated by hprt mutation studies on ataxia telangiectasia and xeroderma pigmentosum.

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Since it was introduced in the early 1940's, mutation breeding has been tested on many crops as modern plant breeding. Until now, more than seven hundred varieties have been developed by means of induced mutation, and many of them officially released and approved for registration. Hundreds of papers report the results of mutation breeding, and the characteristics of induced mutation in different kinds of crops were discussed for review purposes (Blixt and Gottschalk 1975, Gottschalk and Wolff 1983). Considering the results already obtained, it can be concluded that the kinds of induced mutation and their utilization vary from crop to crop. This paper summarizes and discusses the mutation characteristics and kinds on the induced mutants of leguminous plants that have been released.

International Nuclear Information System (INIS)

The effectiveness of the acridines ethidium bromide (EB) and acriflavine in inducing plasmon mutations was compared with the alkylating agents ethyl methanesulphonate (EMS) and diethyl sulphate and to #gamma#-rays. The growth habit (trailing versus bunch) of peanuts (A. hypogaea), controlled by genic-cytoplasmic interactions, was utilized. Breeding tests distinguishing nuclear from plasmon mutations were developed and are described in detail. Plasmon mutations were induced, but there were differences in mutation yields between the cultivars and the mutagens. (Auth.).

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A conference on geotechnics presented papers on soil properties, soil liquefaction, slope stability, pile foundations, numerical modelling, engineering geology, rock mechanics, cold regions engineering, oil sands, irrigation, environmental engineering, geosynthetics, and geotechnical case histories. Separate abstracts have been prepared for 29 papers from the conference.

UK PubMed Central (United Kingdom)

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

UK PubMed Central (United Kingdom)

A regional analysis of nucleotide substitution rates along human genes and their flanking regions allows us to quantify the effect of mutational mechanisms associated with transcription in germ line...Full Text Available

UK PubMed Central (United Kingdom)

A plasmid carrying the bacteriophage lambda lysis genes under lac control was subjected to hydroxylamine mutagenesis, and mutations eliminating the host lethality of the S gene were selected. DNA sequence...Full Text Available

UK PubMed Central (United Kingdom)

PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available

UK PubMed Central (United Kingdom)

Recent preclinical and clinical data suggest that TP53 status and TP53 mutations may be important in determining tumour aggressiveness and therapy response. In this study we investigate the feasibility...Full Text Available

UK PubMed Central (United Kingdom)

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause...Full Text Available

UK PubMed Central (United Kingdom)

Frontotemporal lobar degeneration is a progressive neurodegenerative syndrome that is the second most common cause of early-onset dementia. Mutations in the progranulin gene are a major cause of familial...Full Text Available

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... Loss of Heterozygosity in Normal Breast Epithelial Tissue and Benign Breast Lesions in BRCA1/2 Carriers with Breast Cancer. ...

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BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available

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A total of 25 papers were presented at the conference in 6 sessions: illumination and communication; power and safety; knowledge based systems; mine-wide monitoring; instrumentation control and automation; remote sensing and imaging.

International Nuclear Information System (INIS)

The 12. Annual European Fuels Conference has enabled refiners and fuel developers on March 2011 (8-11). In this work, the lecturers draw the new tendencies and difficulties at which the refining industry will be confronted with. (O.M.)

Energy Technology Data Exchange (ETDEWEB)

This conference provided a forum to discuss advances in the application of bioengineering principles and practices dealing with biological systems for the production of food, bioproducts and energy. The topics of discussion ranged from engineering practices in agriculture, forestry, bioresources, biochemistry and biosystems. The sessions of the conference were entitled: renewable energy; waste management; soil and water; machinery systems; building and storage systems; and bioproducts and food. The conference also featured a workshop on integrated biomass supply and logistics. In addition to 20 posters, the conference featured 67 presentations, of which 3 have been catalogued separately for inclusion in this database. refs., tabs., figs.

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This paper provides a concise summary of the current status of the research and future perspectives discussed in the Mini-Conference on Angular Momentum Transport in Laboratory and Nature. This Mini-conference, sponsored by the Topical Group on Plasma Astrophysics, was held as part of the American Physical Society's Division of Plasma Physics 2007 Annual Meeting (November 12{16, 2007). This Mini-conference covers a wide range of phenomena happening in fluids and plasmas, either in laboratory or in nature. The purpose of this paper is not to comprehensively review these phenomena, but to provide a starting point for interested readers to refer to related research in areas other than their own.

Science.gov (United States)

Integrating phytotechnologies with energy crop production for biofuels, bioenergy, and bioproducts. In: Sixth International Phytotechnologies Conference ; ...

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Topics covered include: Methods of Helium Injection and Removal for Heat Transfer Augmentation; The

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These proceedings represent papers presented at the Astrophysics Conference in Maryland, USA. The topic of the Conference was the evolution of x-ray binaries and the papers encompass a wide range of subjects on x-ray astronomy. There were one hundred eighteen papers presented at the Conference and out of these three have been abstracted for the Energy Science and Technology database.

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Conference abstract book contains seven sections: Plenary-4 abstracts; Chemical-9 abstracts; Radiation-7 abstracts; Ultra Low Doses and Medicine-6 abstracts; Biomedical-11 abstracts; Risk Assessment-5 abstracts and Poster Sessions-25 abstracts. Each abstract was provided by the author/presenter participating in the conference.

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The Gordon Research Conference (GRC) on 2004 Gordon Research Conference on Reversible Associations in Structure & Molecular Biology was held at Four Points Sheraton, CA, 1/25-30/2004. The Conference was well attended with 82 participants (attendees list attached). The attendees represented the spectrum of endeavor in this field coming from academia, industry, and government laboratories, both U.S. and foreign scientists, senior researchers, young investigators, and students.

Energy Technology Data Exchange (ETDEWEB)

This year, the VGB Conference 'Steam Turbines and Operation of Steam Turbines 2008' will take place at the Deutsches Haus in Flensburg. By offering the possibility for exchanging experience, this conference aims to also ensure steam turbine operation with high availability and high efficiency in the future. The changing situation of the market and the responses on the parts of the manufacturers and the operators, as well as the responses of the entire service section to this, show that such an exchange of experience is of utmost importance. This year, the conference will focus on the following topics: - reviews - damage - further developing testing methods - monitoring steam turbines - modernising old steam turbines - new products - new developments in the condenser pipe sector. As in previous years, our Co-operation partners will present themselves at a technical exhibition which will be part of the ...

KoreaScience (Korea)

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UK PubMed Central (United Kingdom)

Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available

UK PubMed Central (United Kingdom)

Although the roots of Ras sprouted from the rich history of retrovirus research, it was the discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an...Full Text Available

International Nuclear Information System (INIS)

We describe the analysis of forward mutations induced in the tetracycline resistance gene of the plasmid pBR322 by directing the reaction of the carcinogen N-acetoxy-N-2-acetylaminofluorene (N-AcO-AAF) to a small restriction fragment (BamHI, SalI) that is located in the proximal part of the antibiotic-resistance gene. Mutant plasmids obtained both in wild type and excision repair deficient (uvrA) bacterial cells are compared. Preliminary data showing the distribution of the -AAF adducts along this restriction fragments are discussed in relation to the observed spectrum of mutations. 20 references, 4 figures.

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No abstract prepared

Science.gov (United States)

... The AAT Z mutation involves a single amino acid substitution (glutamine for lysine) at position 342, resulting in abnormal folding and polymerization of the ...

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The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

UK PubMed Central (United Kingdom)

BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available

UK PubMed Central (United Kingdom)

Mutation of the gene drop-dead (drd) causes adult Drosophila to die within 2 weeks of eclosion and is associated with reduced rates of defecation...Full Text Available

UK PubMed Central (United Kingdom)

Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available

UK PubMed Central (United Kingdom)

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated...Full Text Available

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This document contains the Proceedings of the Eleventh Thematic Conference Geologic Remote Sensing (Volume II). The conference was held February 27-29, 1996 in Las Vegas, Nevada, USA. Presentations included in this volume address the following topics: Geologic Remote Sensing and aerial surveying as applied toward mineral exploration, monitoring of geothermal resources, petroleum exploration, the environmental effects of mining, environment and hydrology, detection of geohazards, and the GIS system and data integration. Some information regarding the use of color imagery in remote sensing is also included.

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Most of the essays gathered in this volume were first presented at a conference, Justice and the Human Genome, in Chicago in early November, 1991. The goal of the, conference was to consider questions of justice as they are and will be raised by the Human Genome Project. To achieve its goal of identifying and elucidating the challenges of justice inherent in genomic research and its social applications the conference drew together in one forum members from academia, medicine, and industry with interests divergent as rate-setting for insurance, the care of newborns, and the history of ethics. The essays in this volume address a number of theoretical and practical concerns relative to the meaning of genomic research.

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Abstracts are presented of 63 papers on the following topics: large-scale optimization, interior-point methods, algorithms for optimization, problems in control, network optimization methods, and parallel algorithms for optimization problems.

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... DARPA-MATERIALS RESEARCH COUNCIL La Jolla, California 0DTIC ... I I 3 Figure 5. Schematic representation of DARPA's Initiative in Concurrent ...

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Separate abstracts are prepared for 74 papers presented at the conference. M.B. Carver, Program Chairman, presented an overview of the meeting. (MCW)

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Conference paper regarding research in the use of freeze prevention for passive solar domestic water heating systems.

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At the occasion of the OECS conference in Madrid, we give a succinct account of some recent predictions in the spectroscopy of a quantum dot in a microcavity that remain to be observed experimentally, sometimes within the reach of the current state of the art.

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... and (3) the exchange of information; materials or perspectives. In 1977, a conference of ... their peers), to products (e.g., curriculum materials, guidebooks, or videos). We will also take ...

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[9] Rysdyk, R. T., and Calise, A. J., Fault Tolerant Flight control via Adaptive Neural Augmentation, AIAA. Guidance, Navigation, and Control Conference, Aug. ...

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... (Argonne Nat. Lab., Speaker: M. Rand (AERE Harwell, UK) ... 19 - Discussion Leader: P. Potter (AERE Harwell, UK) Speaker: YA Chang (Univ. ...

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f4 f5 f1 f2. (a) Overall process decompress ...... involved the shortest learning curve, was available on several platforms, and was ...

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... Topics includes: Formal methods in information engineering, Electronic documents and digital libraries Autonomous robots in embeded systems ...

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... Accession Number : ADD144314. Title : Beta-21S: A High Temperature Metastable Beta Titanium Alloy. Descriptive Note : Conference Proceedings, ...

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flow separation and vortices shed from the airplane forebody when flying at ...... AGARD Conference Proceedings 548: Technologies for Highly Maneuverable ...

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... Our primary work to date in this area has been with the Automated Transport and Retrieval System (ATRS) [1]. ATRS enables independent mobility ...

UK PubMed Central (United Kingdom)

The Wnt signaling pathway is a robust regulator of skeletal homeostasis. Gain-of-function mutations promote high bone mass, whereas loss of Lrp5 or Lrp6 co-receptors decrease bone mass. Similarly, mutations...Full Text Available

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Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of ...

International Nuclear Information System (INIS)

The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal ...

International Nuclear Information System (INIS)

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with ...

UK PubMed Central (United Kingdom)

We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and...Full Text Available

UK PubMed Central (United Kingdom)

Loss-of-function mutations in the regulatory gene areA of Aspergillus nidulans prevent the utilization of a wide variety of nitrogen sources. The phenotypes of nit-2 mutants of Neurospora crassa suggest...Full Text Available

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...The system recognises the name and confirms it before it starts to dial. To stop the number being dialled say 'cancel'. If ...of the conference : Press the Recall 'R' button and listen for holding dial tone. Select extension or outside number of the person to ...who is going to join the conference Press Recall 'R' to receive dial tone and select '*' and '4'. The call is ...line is faulty and should be reported to the switchboard operators by dialling '0' and giving full details of the fault, the extension ...

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A summary of the topics covered in papers presented at the 1995 Brookhaven joint conference on production, neutralization, and application of negative ion beams is given. The conference topics covered included plasma ion sources, plasma seeding of these sources for increased ion production, beam extraction and transport, computer simulation and design studies, and operation of existing and experimental ion source facilities. Application of the sources to accelerator, tokamak, and thin film deposition are discussed. (AIP) {copyright} {ital 1996 American Institute of Physics.}

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This document contains papers which were presented at the First ACM International Conference on Digital Libraries. Topics processed for this document included information retrieval and index structures for structured documents. Individual papers have been processed separately for the United States Department of Energy databases.

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Separate abstracts were prepared for 20 papers in this conference report and includes all papers in the ''engineering'' section (program E). Ocean thermal energy conversion (OTEC), moorings, cables, corrosion protection, corrosion testing, coatings, offshore platforms, pipelines, OTEC models and pilot plants, and energy transfer are topics discussed.

International Nuclear Information System (INIS)

This Insight conference was held to review many of the legal aspects, legislation and regulations dealing with abandoned wells within the petroleum and natural gas industry. Remedial actions to rehabilitate the abandoned sites, legal issues in abandonment, obligations of the owner, the industry-sponsored Orphans Wells Program, were some of the topics discussed.

International Nuclear Information System (INIS)

This book presents the papers given at a conference on two-phase flow. Topics considered at the conference included the thermal hydraulics of a feedwater pipe breakage, pressure losses, measurement of void fraction in a rod bundle, laminar filmwise condensation, natural circulation, flow models, bubble dynamics, cavitation, water hammer, and heat transfer augmentation.

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This book contains the Proceedings of the Conference on Climate and Water under the following groupings: Impacts of climatic variability and change-resulting from the changes in hydrological variables; Aquatic environment; Terrestrial environment; Coastal zones and navigation; Urban and industrial water supply and drainage; Energy production; Intropogenic changes of climate and water management problems; Flood potential; Irrigation and land drainage.

Energy Technology Data Exchange (ETDEWEB)

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed ...

British Library Electronic Table of Contents (United Kingdom)

In Europe, the use of anti-EGFR monoclonal antibodies is restricted to Kirsten RAS (KRAS) wild-type colorectal tumors. Information on the KRAS status of the patients tumor is thus key for clinical practice; however, there is little guidance or definition on which KRAS mutations to assess and how to assess them. To ensure the consistency and the quality of KRAS test results in Europe, an interlaboratory control network needs to be set up. This pilot study aimed to identify the variables that need to be assessed in a quality control scheme and to provide a first assessment in a selected set of laboratories. Fourteen different tumor cases were circulated between 13 laboratories by a central laboratory acting as the referent for the mutation status determination. This study illustrated that of...

British Library Electronic Table of Contents (United Kingdom)

Abstract Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome. A computational craniofacial atlas was built automatically from the set of wild-type mouse micro-CT volumes using (1) affine and (2) non-rigid image registration. Subsequently, the atlas was deformed to match each subject from the two groups of mice. The accuracy of these registrations was measured by a comparison of manually placed landma...

Scientific Electronic Library Online (English)

Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.

International Nuclear Information System (INIS)

This Environmental Assessment (EA) reviews the environmental consequences associated with the proposed action of granting a site use permit to construct and operate a conference center on an approximately 70-acre tract of land on the Savannah River Site (SRS). While the proposed action requires an administrative decision by DOE, this EA reviews the linked action of physically constructing and operating a conference center. The SRS is a DOE-owned nuclear production facility encompassing approximately 200,000 acres in southwestern South Carolina. The proposed conference center would have an area of approximately 4,000 square feet, and would infrequently accommodate as many as 150 people, with the average being about 20 people per day. In addition to the No-Action alternative, under which the Research Foundation would not require the 70-acre tract of SRS land for a conference center, this EA considers site ...

UK PubMed Central (United Kingdom)

Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available

UK PubMed Central (United Kingdom)

Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundTransposons, i.e. transposable elements (TEs), are the major internal spontaneous mutation agents for the variability of eukaryotic genomes. To address the general issue...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundDuring the last ten years, major advances have been made in characterizing and understanding the evolution of mitochondrial DNA, the most popular marker of molecular biodiversity....Full Text Available

UK PubMed Central (United Kingdom)

Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available

UK PubMed Central (United Kingdom)

The p53 tumour suppressor plays a pivotal role in the prevention of oncogenic transformation. Cancers frequently evade the potent antitumour surveillance mechanisms of p53 through mutation of the TP53...Full Text Available

CERN Document Server

We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the ...

UK PubMed Central (United Kingdom)

PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available

UK PubMed Central (United Kingdom)

A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available

International Nuclear Information System (INIS)

In experiments designed to detect new mutations affecting hemoglobin, we irradiated the male or female parent in reciprocal crosses of two mouse strains that differ in alleles at the hemoglobin (Hba, Hbb) loci as well as at five other specific loci. Offspring were analyzed for hemoglobin properties (electrophoretic pattern, solubility, crystal pattern), serum albumin differences, erythrocyte lysis, reticulocyte count, and external appearance. Five hemoglobin variants were found among the mutants. In three, the genetic contribution from the irradiated father was not expressed with regard to the #alpha#-chain; one carried a tandem duplication (the first known case in the mouse) involving Hbb; and one probably resulted from double nondisjunction of chromosome 7. The finding that major chromosome aberratios can mimic hemoglobin mutations indicates the need, in similar experiments, to follow F_1 screening with thorough cytogenetic analysis. The ...

UK PubMed Central (United Kingdom)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured...Full Text Available

UK PubMed Central (United Kingdom)

Mutation assay with Salmonella typhimurium enabled us to detect various types of mutagens in cooked foods. A series of mutagenic heterocyclic amines has been isolated and identified in broiled fish...Full Text Available

UK PubMed Central (United Kingdom)

Gastrointestinal stromal tumors (GIST) are thought to derive from the interstitial cells of Cajal (ICC) or an ICC precursor. Oncogenic mutations of the KIT or PDGFRA receptor tyrosine kinases are present...Full Text Available

UK PubMed Central (United Kingdom)

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79...Full Text Available

UK PubMed Central (United Kingdom)

In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available

UK PubMed Central (United Kingdom)

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundNeuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and...Full Text Available

UK PubMed Central (United Kingdom)

Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available

UK PubMed Central (United Kingdom)

The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene...Full Text Available

UK PubMed Central (United Kingdom)

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available

UK PubMed Central (United Kingdom)

Background and AimsSulfonylurea (SU) herbicides are used extensively in cereal–livestock farming zones as effective and cheap herbicides with useful levels of residual activity....Full Text Available

UK PubMed Central (United Kingdom)

The content of guanine+cytosine varies markedly along the chromosomes of homeotherms and great effort has been devoted to studying this heterogeneity and its biological implications. Already...Full Text Available

UK PubMed Central (United Kingdom)

Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundA strong association between stress resistance and longevity in multicellular organisms has been established as many mutations that extend lifespan also show increased...Full Text Available

UK PubMed Central (United Kingdom)

There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries...Full Text Available

UK PubMed Central (United Kingdom)

Fibroblast growth factor (FGF) signaling is involved in skeletal development of the vertebrate. Gain-of-function mutations of FGF receptors (FGFR) cause craniosynostosis, premature fusion of the skull,...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundNeurofibromatosis type 1 (NF1) is a common monogenic tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1....Full Text Available

UK PubMed Central (United Kingdom)

Mutational inactivation of the RB1 tumor suppressor gene initiates retinoblastoma and other human cancers. RB1 protein (pRb) restrains cell proliferation by binding...Full Text Available

UK PubMed Central (United Kingdom)

A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available

UK PubMed Central (United Kingdom)

The pathogenic mechanisms of human autosomal dominant polycystic kidney disease (ADPKD) have been well known to include the mutational inactivation of PKD2. Although haploinsufficiency...Full Text Available

UK PubMed Central (United Kingdom)

Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated...Full Text Available

UK PubMed Central (United Kingdom)

Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available

UK PubMed Central (United Kingdom)

Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundHistone post-translational modifications are critical for gene expression and cell viability. A broad spectrum of histone lysine residues have been identified in yeast...Full Text Available

UK PubMed Central (United Kingdom)

Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available

UK PubMed Central (United Kingdom)

Cultured mouse or human embryonic stem (ES) cells provide access to all of the genes required to elaborate the fundamental components and physiological systems of a mammalian cell. Chemical or insertional...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the ...

UK PubMed Central (United Kingdom)

Gamma interferon (IFN-γ) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-γ receptor ligand-binding chain...Full Text Available

UK PubMed Central (United Kingdom)

There is increasing concern for the potential adverse health effects of human exposures to chemical mixtures. To better understand the complex interactions of chemicals within a mixture, it is essential...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

The Advanced Networking Integration Department at Sandia National Laboratories has used the annual Supercomputing conference sponsored by the IEEE and ACM for the past three years as a forum to demonstrate and focus communication and networking developments. For Supercomputing `95, Sandia elected: to demonstrate the functionality and capability of an AT&T Globeview 20Gbps Asynchronous Transfer Mode (ATM) switch, which represents the core of Sandia`s corporate network, to build and utilize a three node 622 megabit per second Paragon network, and to extend the DOD`s ACTS ATM Internet from Sandia, New Mexico to the conference`s show floor in San Diego, California, for video demonstrations. This paper documents those accomplishments, discusses the details of their implementation, and describes how these demonstrations supports Sandia`s overall strategies in ATM networking.

Energy Technology Data Exchange (ETDEWEB)

This international conference brought together representatives from industry, academia and government agencies to present the latest developments on the subject of chemical admixtures and superplasticizers in concrete. Recent technological advances in the development of superplasticizers were reviewed, as well as new approaches to manufactured aggregates. The influence of new materials on the rheology of cement systems was discussed, as well as the influence of superplasticizers on various types of aggregates. The addition of hydrophobic admixtures in corrosion prevention strategies were reviewed. Various interactions between cements and superplasticizers were evaluated. Issues concerning adsorption and concrete materials were also investigated. A total of 70 papers were presented at the conference, of which 3 have been catalogued separately for inclusion in this database. refs., tabs., figs.

CERN Document Server

IP Multicast is one of the most absolute method for large bandwidth Internet applications such as video conference, IPTV, E-Learning and Telemedicine etc., But due to security and management reason IP Multicast is not enabled in Internet backbone routers. To achieve these challenges, lot of Application Layer Multicast (ALM) has been proposed. All the existing protocols such as NICE, ZIGZAG and OMNI are trying to reduce average delay by forming a Multicast tree. But still that problem has not been addressed fully. We are proposing a new protocol called NetRawALM, which will address the average delay, Reliability between nodes, Scalability of conference, Heterogeneity and resilient data distribution for real time multimedia applications by constructing the Network based Resource aware Multicast tree algorithm. This is very dynamic and decentralised. The proposed architecture is a LAN aware; it is used to reduce Internet Traffic.

Energy Technology Data Exchange (ETDEWEB)

Thirty-nine conference papers review practical and topical aspects of hydroelectric development, from planning and design to construction, operation and refurbishment. More than half of the papers deal with small-scale hydro, reflecting the continuing strong interest in this subject throughout the world. The planning and economic evaluation of large-scale hydro schemes and pumped-storage plants, and environmental aspects of hydroelectric developments are also discussed. A special session has also been included on hydro in Latin America, where some of the world's largest schemes are planned or under construction. The papers reproduced here draw on the expertise of engineers from eighteen countries in North and South America, Europe, Asia, Australasia and Africa. All the papers were selected and indexed separately.

International Nuclear Information System (INIS)

About 210 abstracts by Ukrainian and foreign authors submitted to the 11-th International Conference on Plasma Physics and Controlled Fusion and 2-nd Alushta International Workshop on the Role of Electric Fields in Plasma Confinement in Stellarators and Tokamaks have been considered by Conference Program Committee members. All the abstracts have been divided into 9 groups: Magnetic confinement systems (stellarators, tokamaks, alternative conceptions); plasma heating and current drive; ITER and fusion reactor aspects; basic plasma physics; space plasma; plasma dynamics and plasma-wall interaction; plasma electronics; low temperature plasma and plasma technologies; plasma diagnostics.

Energy Technology Data Exchange (ETDEWEB)

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described ...

Wastenet

... Tschantz, Performance Evaluation of Constructed Urban Stormwater Detention Ponds in the Knoxville Area, proceedings and presentation to International Conference on Decision Making in Urban and Civil Engineering, Lyon, France, November 22, 2000. B.A. Tschanz, Current Problems, Practices, and ...

Science.gov (United States)

SDI was a space-based defense system designed to ... satellites that could detect a massive nuclear launch within seconds, orbiting laser weapons to destroy the ..... AIAA Washington Conference, memorandum from T. W. Hamilton to H. ...

Energy Technology Data Exchange (ETDEWEB)

No abstract prepared.

Science.gov (United States)

BAE SYSTEMS Infrared Imaging Systems. MS 209. 2 Forbes Road. Lexington, MA 02421 -7306. (781) 863-3762. (781) 863-4809 (fax) ken.overoye @lmco.com ...

Energy Technology Data Exchange (ETDEWEB)

The Gordon Research Conference (GRC) on ROCK DEFORMATION was held at II Ciocco from 5/19/02 thru 5/24/02. Emphasis was placed on current unpublished research and discussion of the future target areas in this field.

International Nuclear Information System (INIS)

This conference was attended by decision makers throughout the supply chain in the natural gas industry who face the continuing challenges of changes in market mechanisms, pricing options, and transmission alternatives. It provided an opportunity to review issues affecting producers, shippers, marketers, and end-users in an environment of tight energy markets and high, inelastic demand. The constraints on adequate energy supplies are influenced by economic factors, current and future resources, materials, equipment, skilled labour, technology and financial capital. The 8 sessions of the conference dealt with the tight North American gas supply; the slow development of new supplies; resource access issues, including politics and supply security; the geopolitics of natural gas; impacts of high prices on the North American economy; energy industry impacts of high natural gas prices; domestic politics and high natural gas prices; and, radical ...

Energy Technology Data Exchange (ETDEWEB)

This Conference is a key technology transfer activity supported by the ongoing Combustion Equipment Technology (Oil-Heat R and D) program at BNL, and is aimed at providing a forum for the exchange of information among international researchers, engineers, manufacturers, and marketers of oil-fired space-conditioning equipment. The objectives of the Conference were to: identify and evaluate the state-of-the-art and recommend new initiatives for higher efficiency, a cleaner environment, and to satisfy consumer needs cost-effectively, reliably, and safely; and foster cooperation among federal and industrial representatives with the common goal of sustained national economic growth and energy security via energy conservation. The 1996 Oil Technology Conference comprised: (a) fourteen technical papers, and (b) four workshops which focused on mainstream issues in oil-heating technology, namely: oilheat research agenda forum; fan ...

Science.gov (United States)

Mar 1, 2004 ... For a summary of papers from a 4-day AIAA conference held February ... m is less than $400 million, with both ground-based and space-based options possible. .... from concerns about a new generation of nuclear weapons. ...

Energy Technology Data Exchange (ETDEWEB)

Details of the functioning of some of industry's most successful energy programs are examined. A Conference Board survey was mailed to 921 corporations, yielding 292 usable responses. More detailed information was gathered from discussions and interviews. (MHR)

Energy Technology Data Exchange (ETDEWEB)

Topics covered include various aspects of solar cell fabrication and performance. Aluminium-gallium arsenides, cadmium telluride, amorphous silicon, and copper-indium-gallium selenides are all characterized in their applicability in solar cells.

UK PubMed Central (United Kingdom)

Despite the availability of dozens of animal genome sequences, two key questions remain unanswered: First, what fraction of any species' genome confers biological function, and second, are apparent...Full Text Available

Science.gov (United States)

In the IEEE Marine Technology Society OCEANS 2009 Conference, Biloxi. October 26-29, 2009. Biloxi, MS. Al-Hamdan, M.; Estes, M.; Quattrochi, D.; Thom, R.; ...

UK PubMed Central (United Kingdom)

Rationale: Human data suggest that the incidence of acute lung injury is reduced in patients with type II diabetes mellitus. However, the mechanisms by which diabetes confers protection...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

This book contains papers relating to the 1990 Future Transportation Technology Conference and Exposition. Included are the following papers; Examination of rich mixtures operation of a dual fuel engine, A hybrid natural gas vehicles, Performance analysis of a spark ignited engine with ETBE as a blending agent.

Energy Technology Data Exchange (ETDEWEB)

The 7 conference papers in Vol. 9 review the implications of environmental problems and discuss the consequences of pollution abatement measures, especially for the economics of energy conversion. The future developments of pollutant emissions are assessed.

UK PubMed Central (United Kingdom)

The Tetrahymena thermophila origin recognition complex (ORC) contains an integral RNA subunit, 26T RNA, which confers specificity to the amplified ribosomal DNA (rDNA) origin by base...Full Text Available

UK PubMed Central (United Kingdom)

The cellular receptor for murine coronavirus mouse hepatitis virus (MHV)-A59 is a member of the carcinoembryonic antigen (CEA) family of glycoproteins in the immunoglobulin superfamily. We isolated...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

This volume is divided into the following sections: (1) fundamentals of convection heat transfer; (2) fundamentals of heat transfer with impinging jets; and (3) fundamentals of heat transfer augmentation. Separate abstracts were prepared for most papers in this volume.

UK PubMed Central (United Kingdom)

Incorporation of clinical decision support (CDS) capabilities is required to realize the greatest benefits from computerized provider order entry (CPOE) systems. Discussions at a conference on CDS in...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundTranslating research to make it more understandable and effective (research translation) has been declared a priority in environmental health but does not always include...Full Text Available

International Nuclear Information System (INIS)

The second international conference on containment design and operation included sessions on the following topics: performance and regulatory requirements; radionuclide behaviour; severe accident design and analysis; operation, maintenance, leaking and aging of containment systems; thermal hydraulic behaviour of containment systems; hydrogen mixing and mitigation; design methods and concepts; code validation; structural analysis and response tests; passive safety systems; aerosol behaviour; containment reliability, integrity, and risk assessment; hydrogen deflagration and detonation. Due prominence was given to CANDU and other PHWR reactors. The individual papers have been abstracted separately.

Energy Technology Data Exchange (ETDEWEB)

The theme of the conference was recent developments in airborne remote sensing and their applications. The proceedings contain the papers presented at 14 general sessions and 13 interactive sessions covering airborne platforms, sensor systems, airborne/spaceborne synergy, atmospheric and oceanic measurements, land cover/land use, emergency response and reconnaissance, data handling, forestry, agriculture, water resources, geospatial reference, system calibration, environmental monitoring and planning, and information product advancements. Two papers are abstracted separately.

Energy Technology Data Exchange (ETDEWEB)

E. coli HB101 cells transformed to tetracycline resistance with the plasmids pMB9 or pBR322 display a 10/sup 5/-10/sup 6/-fold lower plating efficiency on agar containing 440 ..mu..M CdCl/sub 2/ than nontransformed cells. When DNA is inserted into the BamH1 site of the plasmid tet gene, or when DNA spanning the BamH1 site is deleted, tetracycline resistance and cadmium hypersensitivity are both lost. In contrast, insertion of DNA into the ampicillin resistance gene does not affect cadmium hypersensitivity.

Energy Technology Data Exchange (ETDEWEB)

This forum provided insights into Ontario's new smart meter program. Challenges related to implementing the smart meter program were reviewed, and various functional and operational considerations of the meters were considered. The implications and benefits of using real time metering systems were discussed along with issues related to energy conservation and demand management. Various communications technologies were considered in relation to smart metering program implementation. Issues related to pricing and pricing policies were also discussed. The conference featured 11 presentations, of which 2 have been catalogued separately for inclusion in this database. refs., tabs., figs.

Energy Technology Data Exchange (ETDEWEB)

Vol. 4 of the DKV Conference Proceedings 2000 contains 19 papers on air quality, thermal comfort, space HVAC engineering and alternative cooling concepts. [German] Der Band 4 des DKV-Tagungsberichts 2000 enthaelt 19 Beitraege. Sie befassen sich mit speziellen Themen der Heiztechnik; Luftqualitaet und Behaglichkeit; Raumlufttechnik und Alternativen Kuehlkonzepten.

Science.gov (United States)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured human hepatoma cells, but save for the genotype 2a isolate JFH-1, efficient replication of these HCV RNAs requires replication enhancing mutations (REMs), previously also called cell culture adaptive mutations. These mutations cluster primarily in the central region of non-structural protein 5A (NS5A), but may also reside in the NS3 helicase domain or at a distinct position in NS4B. Most efficient replication has been achieved by combining REMs residing in NS3 with distinct REMs located in NS4B or NS5A. However, in spite of efficient replication of HCV genomes containing such mutations, they do not support production of infectious virus particles. By using the genotype 1b isolate Con1, in this study we ...

Science.gov (United States)

The detection of rare mutations has many important applications, including risk assessment of drugs and chemicals, measuring environmental exposures to genotoxins, and cancer cell detection. A sensitive genotypic selection method has been developed that combines two different mutant allele selection techniques, MutEx enrichment and allele-specific competitive blocker PCR (ACB-PCR). This method was developed and evaluated for the detection of a CAA --> AAA mutation at codon 61 of the mouse H-ras gene. The MutEx enrichment is based on MutS binding to a mismatched basepair in heteroduplex DNA. The bound MutS protects the mutant allele from degradation during subsequent exonuclease treatment. ACB-PCR preferentially amplifies a mutant allele in a PCR reaction using a primer that has more mismatches to the wild-type allele than the mutant allele. By combining these two approaches, the codon 61 mutation was detected at mutant ...

British Library Electronic Table of Contents (United Kingdom)

Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...

International Nuclear Information System (INIS)

Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction ...

International Nuclear Information System (INIS)

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

International Nuclear Information System (INIS)

We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. (orig./AJ).

International Nuclear Information System (INIS)

Each of the three cysteine residues in the Escherichia coli RecA protein was replaced with a number of other amino acids. To do this, each cysteine codon was first converted to a chain-terminating amber codon by oligonucleotide-directed mutagenesis. These amber mutants were then either assayed for function in different suppressor strains or reverted by a second round of mutagenesis with oligonucleotides that had random sequences at the amber codon. Thirty-three different amino acid substitutions were obtained. Mutants were tested for three functions of RecA: survival following UV irradiation, homologous recombination, and induction of the SOS response. It was found that although none of the cysteines is essential for activity, mutations at each of these positions can affect one or more of the activities of RecA, depending on the particular amino acid substitution. In addition, the cysteine at position 116 appears to be involved in the RecA-promoted cleavage of the ...

International Nuclear Information System (INIS)

Soybean is one of the most economical and nutritious food packed with basic nutrients that combat diseases stemming from mal- and under-nutrition. Despite its rich nutritional profile, use of soybean in food has been limited because soybean proteins are often associated with compounds, which could exert a negative impact on the nutritional quality of the protein. Trypsin inhibitor (TI) is one of the important anti-nutritional factors that exert negative effect by causing growth inhibition. Soybean cultivar VLS-2 was irradiated with 250 Gy gamma rays in a gamma cell (200) with 60Co source installed at BARC to induce mutations for low trypsin inhibitor content. Three mutants with lower levels of TI content were identified and can be utilized for developing elite varieties of soybean. (author)

British Library Electronic Table of Contents (United Kingdom)

Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT-jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the CDC73 locus has been identified. By means of multiplex-PCR we found a large germline deletion affecting the whole gene in a two-generation HPT-JT family. Subsequently array-CGH and specific PCR analysis determined that the muta...

British Library Electronic Table of Contents (United Kingdom)

Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50?65) car factory workers were included. Information on smoking habits and other lifestyle factors were collected followed by a 60 cm colonoscopy. APC and KRAS mutations and microsatellite status were determined in colorectal lesions (colorectal carcinoma (CRC), hyperplastic (HP) and adenomatous polyps (AP)). Data were analysed using unconditional multiple logistic regression models. Results Smokers had a higher prevalence of AP (OR 2.1; 95% CI 1.2?3.6;...

CERN Document Server

The field of digital libraries (DLs) coalesced in 1994: the first digital library conferences were held that year, awareness of the World Wide Web was accelerating, and the National Science Foundation awarded $24 Million (U.S.) for the Digital Library Initiative (DLI). In this paper we examine the state of the DL domain after a decade of activity by applying social network analysis to the co-authorship network of the past ACM, IEEE, and joint ACM/IEEE digital library conferences. We base our analysis on a common binary undirectional network model to represent the co-authorship network, and from it we extract several established network measures. We also introduce a weighted directional network model to represent the co-authorship network, for which we define $AuthorRank$ as an indicator of the impact of an individual author in the network. The results are validated against conference program committee members in the same ...

International Nuclear Information System (INIS)

The research and development efforts regarding phytoremediation technologies were the main focus of this conference. Phytoremediation is the term for any applied process that uses green plants and their associated microorganisms for remediating contaminated soils and groundwater. The 12 papers presented at this conference provided guidance on recommended requirements for the successful implementation of specific phytoremediation technologies. The mechanisms of phytoremediation for petroleum hydrocarbons were also described. Phytoremediation technologies are divided into two major classes including contaminant removal and contaminant stabilization. Several studies have shown that phytoremediation is effective in degrading, containing and transferring petroleum hydrocarbons in soil and groundwater. Phytoremediation has shown to hold promise for the effective and inexpensive cleanup of various hazardous wastes. refs., tabs., figs.

International Nuclear Information System (INIS)

Details of a 1 day conference designed to create more efficient interactions between the gas supply and electricity systems in Ontario and new models for gas supply and the electricity system were presented. Market efficiency, generators' perspectives on critical gas issues, an overview of the North American gas and an outline of issues concerning Ontario were discussed. A natural gas industry forecast and issues concerning marketers and producers were presented. The terms on which gas is bought and sold were discussed. Regulatory tools, cost allocation and issues relating to unbundling were also presented. Infrastructure needs were reviewed, as well as basic market structures. It was suggested that appropriate commercial service options need to be developed and approved, including cross-utility services.

Energy Technology Data Exchange (ETDEWEB)

The present conference discusses plasma-assisted surface coating/modification processes, the applications to date of ion nitriding, the effects of nitrogen on metal surfaces, ion nitriding mechanisms in Cr, Al and Cr + Al-containing 1040 steel, ion nitriding of Al and its alloys, life enhancement for forging dies, novel anode plasma nitriding developments, and a comparative study of the pulsed and dc ion-nitriding behavior in specimens with blind holes. Also discussed are the influence of heating method on ion nitriding, surface hardening of marage steels by ion nitriding without core hardness reduction, plasma nitriding of nodular cast iron sput gears, NbN composites for superconductors, the carburization of tungsten in a glow discharge methane plasma, economic considerations concerning plasma nitriding, and the corrosion properties obtained by ion nitriding.

Energy Technology Data Exchange (ETDEWEB)

The present conference on lens design encompasses physical and geometrical optics, diffractive optics, the optimization of optical design, software packages, ray tracing, the use of artificial intelligence, the achromatization of materials, zoom optics, microoptics and GRIN lenses, and IR lens design. Specific issues addressed include diffraction-performance calculations in lens design, the optimization of the optical transfer function, a rank-down method for automatic lens design, applications of quadric surfaces, the correction of aberrations by using HOEs in UV and visible imaging systems, and an all-refractive telescope for intersatellite communications. Also addressed are automation techniques for optics manufacturing, all-reflective phased-array imaging telescopes, the thermal aberration analysis of a Nd:YAG laser, the analysis of illumination systems, athermalized FLIR optics, and the design of array systems using shared symmetry.

British Library Electronic Table of Contents (United Kingdom)

Women who have academic careers in engineering have successfully navigated the social identity threats that prevent many other women from feeling that they belong in science, technology, engineering, and math fields. In this research, we examined what factors may be related to resilience in these academic environments. Female academics in engineering and nonengineering fields watched a fictitious conference video depicting either an unbalanced ratio of men to women or a balanced ratio. Subjective measures of identity threat were collected. Past experience with discrimination, positive experience with female role models, family support, and general social support were associated with a greater sense of belonging to or desire to participate in the conference. These variables all buffered neg...

British Library Electronic Table of Contents (United Kingdom)

The author analyzes conference materials, emphasizing the studies and latest developments useful for industrial heterogeneous catalysis in view of the requirements of green chemistry. Industrial catalysts is developing along a nanometer scale, so especial attention is devoted to analyzing the reports in the Nanochemistry section on the creation of nanocatalysts, the production of active phase nanoparticles, and the formation of new synthesized material properties. The catalysts developed earlier by Russian research in cooperation with Belarusian scientists are considered, and it is shown that not only are expensive nanocontacts extremely promising for industry, but the efficient and economic low-percentage new generation of nanocatalysts synthesized by wet chemistry and containing nanopart...

Energy Technology Data Exchange (ETDEWEB)

This conference of Deutsche Wissenschaftliche Gesellschaft fuer Erdoel, Erdgas und Kohle focused on energetic utilisation and recycling of waste materials and biomass, i.e. combustion, gasification and pyrolysis. Aspects of process control were gone into as well. [German] Die Fachbereichstagung der Deutschen Wissenschaftlichen Gesellschaft fuer Erdoel, Erdgas und Kohle beschaeftigte sich mit der energetischen und stofflichen Nutzung von Abfall und Biomasse. Verbrennung, Vergasung und Pyrolyse verschiedener Abfallstoffe sowie die Prozesssteuerung wurden eroertert.

Energy Technology Data Exchange (ETDEWEB)

This conference report contains the lectures presented at the BMBF status seminar on the cooperative project ``Bodies of landfills``, which took place at Wuppertal on 25th and 26th April 1995. The cooperative project was started in autumn 1993 and studies the long-term behaviour of wastes deposited at landfills in general. Inorganic and municipal wastes are studied separately. (orig./SR) [Deutsch] Der vorliegende Tagungsband enthaelt die Vortraege des BMBF-Statusseminars zum Verbundvorhaben `Deponiekoerper` vom 25. und 26. April 1995 in Wuppertal. Das Verbundvorhaben `Deponiekoerper` wurde im Herbst 1993 begonnen und befasst sich ganz generell mit dem langfristigen Deponieverhalten von Abfaellen. Es ist unterteilt in die Untersuchung von anorganischen Abfaellen und von Siedlungsabfaellen. (orig./SR)

UK PubMed Central (United Kingdom)

The rates of synthesis of a class of both secreted and intracellular degradative enzymes in Bacillus subtilis are controlled by a signal transduction pathway defined by at least four regulatory genes:...Full Text Available

Science.gov (United States)

A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies ...

Energy Technology Data Exchange (ETDEWEB)

This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

UK PubMed Central (United Kingdom)

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant...Full Text Available

UK PubMed Central (United Kingdom)

The positive control function of the bacterial enhancer-binding protein NtrC resides in its central domain, which is highly conserved among activators of ς⁵⁴ holoenzyme. Previous...Full Text Available

UK PubMed Central (United Kingdom)

The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available

International Nuclear Information System (INIS)

Epidemiological studies will not solve the shape of the dose effect curve for stochastic effects in the low dose range. Unicellular processes are necessary for the primary processes so that no threshold dose exists. This is evident for somatic and genetic mutations. Not clearly solved is this question for the complex carcinogenesis. These processes develop with manifold interacting molecular and cellular steps. (orig.).

International Nuclear Information System (INIS)

Spontaneous mutation has been discovered and utilized in domestication of narrow-leafed lupin (Lupinus angustifolius L.). As the result of the domestication, lupin has become a dominant grain legume crop in Western Australia. Facing the new challenge of developing herbicide tolerance cultivars, chemical mutagenesis has been used to create new tolerance to herbicide. This paper reports the characterization of two lupin mutants (Tanjil-AZ-33 and Tanjil-AZ-55) that are highly tolerant to metribuzin herbicide. A dose response study over 8 doses revealed that Tanjil-AZ-33 was 6 times more tolerant to metribuzin than the original parental cultivar Tanjil by measure of LD50. This mutant Tanjil-AZ-33 is the most tolerant germplasm in narrow-leafed lupin. Both mutants also maintain the high resistance to the disease anthracnose as cv Tanjil. Seed yield based on small field plots (3.6 m"2) under irrigation was 4.2 t/ha for Tanjil-AZ-33 and 1.9 t/ha for Tanjil when the ...

International Nuclear Information System (INIS)

Mutation breeding in one of the cultigens TMV-5 in Sesamum is undertaken with 5 kr, 10 kr, 15 kr, 20 kr, 60 kr and 80 kr, dosages of gamma-rays. 60 kr and 80 kr dosages were found to be lethal from the complete failure of seed germination. The mutagen had a heterotic effect on the different characters and the promising variants obtained in this programme are proposed to be maintained by pureline breeding for their possible release as new varieties. (author).

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The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)

UK PubMed Central (United Kingdom)

APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available

International Nuclear Information System (INIS)

Tow experiments were carried out in 1981 and 1982 growth seasons at the greenhouse of the department of agriculture for soils and water researches, atomic energy authority, at inshas, to investigate the responses of two mutation derived lines of sesame and the local cultivar giza 25 to the application of micro nutrients. The possible effect of radiation on germination and growth of sesame seed was also studied in a separate experiment conducted in 1985 season, at inshas.

International Nuclear Information System (INIS)

Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI ...

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Large-scale field tracer experiments have been conducted on Ulchin, Wolsung and Daeduk sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear sites. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. both processes, of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of Biological research for the radiation protection had contained the search of biological microanalytic methods for assessing the health effect by {gamma}-radiation and toxic ...

UK PubMed Central (United Kingdom)

Mutagenic, reproductive, and toxicity effects of two closely related chemicals, ethylnitrosourea (ENU) and methylnitrosourea (MNU), were compared at equimolar and near-equimolar doses in the...Full Text Available

UK PubMed Central (United Kingdom)

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%....Full Text Available

UK PubMed Central (United Kingdom)

The activation of nuclear factor-kappa B1 (NFκB1) in cancer cells may confer resistance to ionizing radiation (IR). To enhance the therapeutic efficiency of IR in lung cancer, we screened for...Full Text Available

International Nuclear Information System (INIS)

The Wolsung-1 CANDU 600 MWe plant is now in operation. This paper provides an update on the design, construction and commissioning progress reported at last year's conference. The accomplishments of the past year are highlighted with emphasis on how the station has been commissioned in preparation for commercial service and on the skills that were dedicated to the completion of the project. The paper also deals with some of the features of the CANDU 600 MWe Nuclear Power Plant that make it viable for export.

International Nuclear Information System (INIS)

In the recent years the use of nuclear energy has turned from a technical and scientific issue to a political one. The high-temperature reactor (HTR) however, has always been advertised as particularly safe. The present situation and future developments of HTR-technology were the two issues that VDI-News brought up on the 27th October on an HTR-conference in an interview with the 'spiritual father' of the HTR, Prof. Dr. Rudolf Schulten of the Juelich Nuclear Research Centre. (orig.).

British Library Electronic Table of Contents (United Kingdom)

HOAI und Vergabe - erste Erfahrungen mit den Novellen 29. Stahlbauseminar INTAB+ Seminar 2010 Verbundbrucken mit integralen Widerlagern Hamburg Offshore Wind Conference 2010Perfect know-HOW Leichtbausysteme aus Stahl fur Dach und Fassade. Energie- und kosteneffiziente Losungen fur Neu- und Bestandsbau Lubecker Bautag

UK PubMed Central (United Kingdom)

Inhibition of large conductance calcium-activated potassium (BK_Ca) channels mediates, in part, oxygen sensing by carotid body type I cells. However, BK_Ca channels remain active...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

A summary of the latest results of Standard Model Higgs boson searches from CDF and D0 presented at the DIS 2007 conference is reported in this paper. All analyses presented use 1 fb{sup -1} of Tevatron data. The strategy of the different analyses is determined by the Higgs production mechanism and decay channel.

Energy Technology Data Exchange (ETDEWEB)

This journal includes all formal reports in the NUREG series prepared by the NRC staff and contractors, as well as proceedings of conferences and workshops. The entries in the compilation are indexed for access by title and abstract, contractor report number, personal author, subject, NRC organization, contractor, and licensed facility.

Energy Technology Data Exchange (ETDEWEB)

This document contains eleven papers on various aspects of low-level radioactive waste regulation. Topics include: EPA environmental standards; international exemption principles; the concept of below regulatory concern; envirocare activities in Utah; mixed waste; FUSRAP and the Superfund; and a review of various incentive programs. Individual papers are processed separately for the data base. (TEM)

International Nuclear Information System (INIS)

This book is organized under the following headings: Electrohydrodynamic heat transfer augmentation; Forced convection augmentation and heat transfer control; Turbulent heat transfer; Thermal problems in the environment; Energy conversion systems; Measurement, visualization, and imaging; Thermal problems in space technology; and Thermal properties.