BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available
BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available
A study is made of plant sensitivity to mutagens during the processing of seeds. An examination is made of problems concerned with modification mutability, the nature of plant restoration following irradiation. Particular attention is given to mutation changes. A presentation is made of several features of mutant changes initially selected by separate indicators. An examination is made of the possible study of mutant indicator genetics. General data on the forms and varieties produced by the mutagenesis method are given. The book is designed for breeding specialists and geneticists engaged in the study of mutagenesis. 439 references, 27 figures, 66 table.
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).
Aesthetic dentistry continues to evolve through innovations in bonding agents, restorative materials, and conservative preparation techniques. The use of direct composite restoration in posterior teeth...Full Text Available
BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations...Full Text Available
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
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 ...
Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available
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
BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available
This proceedings CD ROM contains 127 papers on developing and evaluating engineering approaches to wetlands and river restoration. The latest engineering developments are discussed, providing valuable insights to successful approaches for river restoration, wetlands restoration, watershed management, and constructed wetlands for stormwater and wastewater treatment. Potential solutions to a wide variety of ecosystem concerns in urban, suburban, and coastal environments are presented.
Statement of problem Although the esthetic outcome of a collarless metal ceramic restoration is superior to that of a restoration with a metal margin, its mechanical strength has not been evaluated. Purpose The purpose of this study was to evaluate and compare the fracture resistance of metal ceramic restorations with metal margins to that of metal ceramic restorations with circumferential porcelain margins, after exposure to masticatory simulation. Material and methods Twenty-four metal ceramic restorations were fabricated and paired with 24 cobalt-chrome tooth analogs. Twelve of the specimens had metal margins, while the remainder had circumferential porcelain margins. The restorations were cemented on the metal tooth analogs with a resin-modified glass ionomer luting agent (FujiCEM). Al...
Abstract Purpose: The aim of this in vitro study was to compare the marginal adaptation of a pressed ceramic material, when used with and without a metal substructure, to a traditional feldspathic porcelain-fused-to-metal restoration with a porcelain butt margin. Materials and Methods: A maxillary central incisor typodont tooth was prepared with a 1.5 mm 360degree shoulder with rounded internal line angle, and 30 polyether impressions were made. Dies were poured in type IV dental stone, and 30 restorations were fabricated: 10 metal ceramic restorations (MCR) with porcelain butt joints, 10 pressed to metal restorations (PTM), and 10 all-ceramic restorations (PCR). All restorations were evaluated on their respective dies at 45x magnification using an Olympus SZX-12, measurements of the margi...
The importance of ecosystem restoration to land reclamation is discussed. If a plant community is to be self sustaining, natural diversity processes provide a useful model for restoration. Biodiversity is important for utilitarian, ecological, and ethical/aesthetic reasons. Issues that must be considered include sampling and management scales, the separate richness of the diverse array of species playing a role in ecosystem productivity and stability, and natural trends in diversity. Ecological restoration comprises two fundamental activities: management for some pre-disturbance level of biodiversity and the combination of species in a manner that is essentially experimental. Endeavours to restore biological diversity are a useful method of experimenting with the factors that control ecosystem structure and function. 21 refs.
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.
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.
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.).
Abstract To be self-sustaining in the longer-term and meet defined completion criteria, it is important that the management of restored bauxite mines can be integrated with the surrounding unmined Jarrah (Eucalyptus marginata) forest. A number of research projects relating to fire management have been undertaken in restored areas over the past 15 years. The broad objectives of these studies have been to assess the resilience of different-aged restored sites to fire and define the most suitable fire regime (season, intensity, and frequency) to utilize in the management of these areas. Restored areas were found to be a low fire risk up to five years of age because litter fuel was discontinuous and could not normally carry the fire. Between the ages of five and 12-15 years, restored areas wer...
Secondary caries and restoration fracture remain the two most common problems in restorative dentistry. Release of fluoride ions (F) could be a substantial benefit because F could enrich neighboring...Full Text Available
Amorphous silicon solar cells have been shown to have efficiencies which degrade as a result of long exposure to light. Annealing such cells in air at a temperature of about 200.degree. C. for at least 30 minutes restores their efficiency.
The environmental Restoration Remedial Action Quality Assurance Requirements Document (DOE/RL 90-28) defines the quality assurance program requirements for the US Department of Energy-Richland Field Office Environmental Restoration Remedial Action Program at the Hanford Site, Richland, Washington. This paper describes the objectives outlined in DOE/RL 90-28. The Environmental Restoration Remedial Action Program implements significant commitments made by the US Department of Energy in the Hanford Federal Facility Agreement and Consent Order entered into with the Washington State Department of Ecology and the US Environmental Protection Agency.
Wetlands can potentially sequester vast amounts of carbon. However, over 50% of wetlands globally have been degraded or lost. Restoration of wetland systems may therefore result in increased sequestration of carbon. Preliminary results of our investigations into atmospheric carbon sequestration by restored coastal wetlands indicate that carbon can be sequestered in substantial quantities in the first 2-50 years after restoration of natural hydrology and sediment accretion processes.
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
Receptor protein tyrosine phosphatase T (PTPRT/PTPρ) is frequently mutated in human cancers including colon, lung, gastric and skin cancers. More than half of the identified tumor-derived...Full Text Available
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
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
PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available
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
PurposeTo investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.MethodsThe...Full Text Available
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
Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase...Full Text Available
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
Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available
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
PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available
We describe the isolation and genetic characterization of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced mutations in the phage P22 mnt repressor gene cloned in plasmid pBR322. Mutations in the mnt repressor gene or its operator on this plasmid, pPY98, confer a tetracycline resistance phenotype, whereas the wild-type plasmid confers tetracycline sensitivity. Cells carrying pPY98 were briefly exposed to MNNG to give 20 to 40% survival and a 50- to 100-fold increase in tetracycline-resistant cells. DNA sequence analysis showed that 29 to 30 MNNG-induced mutations were GC-to-AT transitions and one was an AT-to-GC transition. About 80% of the mutations are in three hotspots. This mutation spectrum is consistent with the proposed mechanism of mutagenic action of MNNG, which involves mispairing of an alkylated base, O/sup 6/-methylguanine. The mnt gene may be a useful target ...
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
BackgroundThe commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable...Full Text Available
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
During sexual development, Neurospora crassa inactivates genes in duplicated DNA segments by a hypermutation process, repeat-induced point mutation (RIP). RIP introduces C:G to T:A...Full Text Available
Constrained least-squares techniques have been used to produce a well known class of image restoration algorithms. These techniques typically involve minimizing a linear operator on a vector representation of an image, subject to a constraint. For cases where an equality constraint is appropriate the method of Lagrange multipliers can be used to produce a restored image. In this work a fractal textural model, fractional Brownian motion, is used to represent images of interest. Using a variance fractal dimension estimator a non-linear operator, that represents the squared difference between the fractal dimension of the restored image and on a priori value is minimized, subject to the constraint that the norm of the residual between the restored image and available measurement equal the norm of the additive noise.
Statement of problem The opacity of the metal framework in metal ceramic restorations results in reduced light transmission through the tooth that diminishes the esthetics of the tooth. Purpose The purpose of this study was to investigate the color change that occurs apically to a metal ceramic restoration as a result of altering the metal framework design. Material and methods Color change relative to the unprepared tooth (DE) between various metal ceramic restorations was determined using computer imaging and CIELAB coordinates and compared to previously determined levels of clinical acceptability. Color change was evaluated by examining 2 conditions (the metal copings and the completed metal ceramic restorations), 4 framework designs (metal collar and porcelain margins with 0-mm, 1-mm, ...
In the last decade, interest has increased in coastal and freshwater wetland restoration and creation at all levels of government, in the scientific community, and in the private sector. US Environmental Protection Agency personnel agreed that there was a pressing need to determine how well created and restored wetlands compensate for losses permitted under Section 404 of the Clean Water Act. An effort was made to capture information not published elsewhere and incorporate it with published literature to produce a unique resource. The status report is the first major publication resulting from research initiated on wetland creation and restoration. Conceived as a mechanism for identifying the adequacy of the available information, this status report will help set priorities for the research program and provide Agency personnel with an analytical framework for making Section 404 permit decisions based on the status of the ...
Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, ...
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
KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...
The purpose is to describe problems associated with the establishment of vegetation on mined lands and practical rehabilitation and restoration methods for establishing a rehabilitation plan. Land disturbed by mining should be restored to its original state, when the mine is decommissioned, but before that can be attained, site problems such as toxicity, moisture supply, and texture must be rectified. The land may need to pass through several conditioning stages, and links need to be formed to maintain a functioning ecosystem. A key aspect to rehabilitation is the need to increase the organic matter content of the substrate. This improves soil structure, increases the moisture holding ability, and provides a pool for nutrient cycling. 11 refs., 2 tabs.
Development of an assessment framework and indicators can be used to evaluate effectiveness of wetland restoration. Example of these include index of biotic integrity and the hydrogeomorphic method. Both approaches provide qualitative ranks. We propose a new method based on the EPA wetland research program. Similar to other methods, indexes are compared to reference communities; however, the comparisons are quantitative. In this paper we discuss the results of our framework using the Pen Branch riparian wetland system as an example.
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice ...
Seventy-seven patients developed retinal breaks following an episode of ocular contusion, and 65 (84.4%) of these developed rhegmatogenous retinal detachment. Surgical treatment successfully restored...Full Text Available
Statement of problem Porcelain fracture associated with an implant-supported, metal ceramic crown or fixed partial denture occurs at a higher rate than in tooth-supported restorations, according to the literature. Implant-specific and patient-specific causes of ceramic failure have not been fully evaluated. Purpose The purpose of this retrospective study was to evaluate the potential statistical predictors for porcelain fracture of implant-supported, metal ceramic restorations. Material and Methods Over a 6-month period, a consecutive series of patients having previously received implant-supported, metal ceramic fixed restorations were examined during periodic recall appointments. The number of supporting implants, number of dental units, type of restoration, date of prosthesis insertion, ...
Abstract The overstory of the jarrah forest is dominated by Jarrah (Eucalyptus marginata) with a smaller proportion of Marri (Corymbia calophylla). There are also several smaller tree species in the areas where Alcoa mines. Alcoa's restoration aims to restore all these species at densities similar to the unmined forest. This paper describes the establishment, survival, and growth of these trees with particular focus on Jarrah. Factors affecting the growth and form of Jarrah are also discussed. Establishment of Jarrah from seed in restored sites is variable (mean 10%), and once established, survival is high over two summer droughts (96%) and still high (mean 83%) after about a decade regardless of the presence of the Jarrah dieback disease Phytophthora cinnamomi. High establishment densitie...
Cost-time management methods have been developed by Westinghouse to examine business applications from a cost-time perspective. The initial application of cost-time management within Westinghouse was targeted at reducing cycle time in the manufacturing sector. As a result of the tremendous success of reduced cycle time in manufacturing, Westinghouse initiated application of the management technique to Environmental Restoration activities at its Government Owned Contractor Operated facilities. The Westinghouse initiative was proposed in support of the Department of Energy`s goals for cost effective Environmental Restoration activities. This paper describes the application of the cost-time method to Environmental Restoration work currently being performed at the Idaho National Engineering Laboratory (INEL) for the Department of Energy (DOE) by Westinghouse Idaho Nuclear Company (WINCO).
Cost-time management methods have been developed by Westinghouse to examine business applications from a cost-time perspective. The initial application of cost-time management within Westinghouse was targeted at reducing cycle time in the manufacturing sector. As a result of the tremendous success of reduced cycle time in manufacturing, Westinghouse initiated application of the management technique to Environmental Restoration activities at its Government Owned Contractor Operated facilities. The Westinghouse initiative was proposed in support of the Department of Energy's goals for cost effective Environmental Restoration activities. This paper describes the application of the cost-time method to Environmental Restoration work currently being performed at the Idaho National Engineering Laboratory (INEL) for the Department of Energy (DOE) by Westinghouse Idaho Nuclear Company (WINCO).
Zirconia-based restorations are widely used in prosthetic dentistry; however, their susceptibility to hydrothermal degradation remains elusive. We hypothesized that CAD/CAM machining and subsequent...Full Text Available
The stages of processes leading to radiation damage are studied, as well as, the direct and indirect mechanics of its production. The radiation effects on nucleic acid and protein macro moleculas are treated. The physical and chemical factors that modify radiosensibility are analysed, in particular the oxygen effects, the sensibilization by analogues of nitrogen bases, post-effects, chemical protection and inherent cell factors. Consideration is given to restoration processes by excision of injured fragments, the bloching of the excision restoration processes, the restoration of lesions caused by ionizing radiations and to the restoration by genetic recombination. Referring to somatic effects of radiation, the early ones and the acute syndrome of radiation are discussed. The difference of radiosensibility observed in mammalian cells and main observable alterations in tissues and organs are commented. ...
The penetrance of Lebers 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 (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...
Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available
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
Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available
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.
Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death...Full Text Available
... The AAT Z mutation involves a single amino acid substitution (glutamine for lysine) at position 342, resulting in abnormal folding and polymerization of the ...
Objective:? Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia. Establishing the correct diagnosis is important because surgery can be curative in HPT, but ineffective in FHH. There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas. Design and Patients:? CaSR gene mutations were analyzed and clinical and biochemical parameters evaluated in 139 consecutive out-patients presenting with hypercalcaemia and suspected ...
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.
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available
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
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
Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available
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
What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...
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
This report documents the evaluation of risks associated with environmental restoration activities at Brookhaven National Laboratory using two tools supplied by DOE to provide a consistent set of risk estimates across the DOE complex: Risk Data Sheets (RDS) and Relative Risk Ranking. The tools are described, the process taken characterized, results provided and discussed. The two approaches are compared and recommendations provided for continuing improvement of the process.
Often measures of protection and restoration of reinforced concrete structures are not taken until damage occurs which affects power plant operation. These failures can be avoided by predictive civil engineering maintenance and repair. The consequent application and implementation of a life-time management system for power plant buildings is being suggested. (orig.)
This document defines the quality assurance requirements for the US Department of Energy-Richland Operations Office Environmental Restoration Remedial Action program at the Hanford Site. The Environmental Restoration Remedial Action program implements significant commitments made by the US Department of Energy in the Hanford Federal Facility Agreement and Consent Order entered into with the Washington State Department of Ecology and the US Environmental Protection Agency. This document combines quality assurance requirements from various source documents into one set of requirements for use by the US Department of Energy-Richland Operations Office and other Environmental Restoration Remedial Action program participants. This document will serve as the basis for developing Quality Assurance Program Plans and implementing procedures by the participants. The requirements of this document will be applied to activities affecting ...
This document defines the quality assurance program requirements for the US Department of Energy, Richland Field Office, Environmental Restoration program at the Hanford Site. This document integrates quality assurance requirements from US Department of Energy Orders, the Hanford Federal Facility Agreement and Consent Order, and applicable industry standards into a single source document for the development of quality assurance programs applicable to the Environmental Restoration program items and activities. This document has been configured into three parts and fifteen criteria to provide user organizations with a workable document that best facilitates line operations. When developing individual user organization quality assurance programs, the document configuration provides each organization with the Flexibility to incorporate only those parts and criteria that are applicable to their individual scope of work as it is associated with the ...
Previously it was shown that the host-range gene of the Bratislava strain of avain sarcoma virus (B77 virus) spontaneously mutates with a very high rate. The wild-type B77 virus called B77 virus-II,...Full Text Available
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
Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[a]pyrene diolepoxide (BPDE) in human (T)-lymphocytes...Full Text Available
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 ...
AbstractThe gag p6 region of HIV-1 has various nonsubstitutionary mutations, including insertions, duplications, deletions, and premature stop codons. Studies have linked gag p6 mutations...Full Text Available
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 ...
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available
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 ...
Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.
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
PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available
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
Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available
Abstract A critical aspect of reestablishing a self-sustaining Jarrah (Eucalyptus marginata) forest ecosystem to bauxite-mined areas is to ensure that vital ecosystem functions such as litter decomposition and nutrient cycling are returned. Significant research has been undertaken over the past 20 years relating to litter decomposition and nutrient cycling. Studies have shown that litter accumulates rapidly in restored areas (1-4 ton ha-1 yr-1) and the accumulated litter tends to be richer in nitrogen due to intentionally elevated densities of nitrogen-fixing species. This leads to a lower (carbon:nitrogen) C:N ratio (60:1 compared to 130:1 in unmined forest) that may promote mineralization of organic N to inorganic forms in restored areas. The major nutrient store in the unmined forest is...
Statement of problem Because noble dental casting alloys for metal ceramic restorations have a wide range of mechanical properties, knowledge of these properties is needed for rational alloy selection in different clinical situations where cast metal restorations are indicated. Purpose The purpose of this study was to compare the mechanical properties and examine both the fracture and polished surfaces of 6 noble casting alloys that span many currently marketed systems. Five alloys were designed for metal ceramic restorations, and a sixth Type GPT has Type IV alloy for fixed prosthodontics (Maxigold KF) was included for comparison. Material and methods Specimens (n=6) meeting dimensional requirements for ISO Standards 9693 and 8891 were loaded to failure in tension using a universal testin...
The purpose of this paper is to communicate how new and established management techniques are applied to environmental restoration projects at the Savannah River Site. Specifically, the paper discusses application of four (4) management approaches: Total Quality Principles; Task Team Structure; Cost Time Management; SAFER (Streamlined Approach for Environmental Restoration). The objective is to share Savannah River Site experience and document case studies where certain approaches have enhanced projects at hand. Each management approach is demonstrated by its project application and impact on performance. The visibility given the project is discussed to emphasize communications as avenues for public information, technical exchange, and employee motivation.
Forest restoration efforts should aim at creating landscapes with a balanced array of forest stands at varying successional stages, thus providing habitat for a wealth of species and multiple ecosystem services. In most high-mountain ecosystems of South America, long-term livestock rearing activities that include fires, browsing, and trampling have delayed or stopped forest succession resulting in simplified landscapes. To determine appropriate restoration goals for Polylepis australis mountain forests of Central Argentina, we established 146 plots of 900 m2 plots throughout five river basins with different historic livestock stocking rates. In each plot, we measured tree heights, canopy cover, estimated age of oldest tree, volume of standing and fallen dead wood, fern cover, and abundance...
Abstract Restoration needs to consider more than just soils and plants. The role of terrestrial invertebrates in the restoration of Alcoa's bauxite mines in the Jarrah (Eucalyptus marginata) forest of Western Australia has been the subject of over 20 individual studies. Projects range from arthropods in soil and leaf litter, to the understorey vegetation, and the tree canopy. Moreover, projects span a range of trophic groups, including decomposers (e.g., springtails and termites), predators (e.g., ants and spiders), and herbivores (e.g., true bugs and ants preying on seeds). Elucidation of recolonization trajectories uses both space-for-time substitutions and long-term regular sampling. Importantly, many studies are at species level rather than coarser taxonomic ranks. This paper provides ...
Humans are exposed to chemicals in contaminated groundwaters that are used as sources of drinking water. Chemicals contaminate groundwater resources as a result of waste disposal methods for toxic chemicals, overuse of agricultural chemicals, and leakage of chemicals into the subsurface from buried tanks used to hold fluid chemicals and fuels. In the process, both the solid portions of the subsurface and the groundwaters that flow through these porous structures have become contaminated. Restoring these aquifers and minimizing human exposure to the parent chemicals and their degradation products will require the identification of suitable biomarkers of human exposure; better understandings of how exposure can be related to disease outcome; better understandings of mechanisms of transport of pollutants in the heterogeneous structures of the subsurface; and field testing and evaluation of methods proposed to restore and cleanup contaminated ...
This document represents the FY2002 BPA contract Statement of Work for the Yakama Nation (YN) portion of the project entitled 'Assessment of current and potential salmonid production in Rattlesnake Creek associated with restoration efforts'. The purpose of the project is to complete detailed surveys of water quality, fish populations, habitat conditions and riparian health in the Rattlesnake Creek sub-basin of the White Salmon River in south central Washington. Results of the surveys will be used to establish Rattlesnake Creek sub-basin baseline environmental factors prior to anticipated removal of Condit Dam in 2006 and enable cost-effective formulation of future watershed restoration strategies.
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 ...
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 to indicate ...
Osteoporotic vertebral fractures often lead to pain and disability. They can be successfully treated, and possibly prevented, by injecting cement into the vertebral body, a procedure known as vertebroplasty....Full Text Available
Cervical spinal cord hemisection rostral to the phrenic nucleus leads to paralysis of the ipsilateral hemidiaphragm in adult rats. Respiratory function can be restored to the paralyzed hemidiaphragm...Full Text Available
The W-259 project will provide upgrades to the 2706-T/TA Facility to comply with Federal and State of Washington environmental regulations for secondary containment and leak detection. The project provides decontamination activities supporting the environmental restoration mission and waste management operations on the Hanford Site.
PurposeEctopic expression of light-sensitive proteins, such as channelrhodopsin-2, represent a novel approach for restoring light-detection capabilities to degenerated retina. A...Full Text Available
The problem of the optimal dispatch of real thermoelectric generation consists in minimizing the hourly fuel consumption under both network and security constraints. Two recent sequential gradient-restoration algorithms are applied to the solution of this nonlinear programming problem. The first algorithm (Miele et alii) solves a problem with equality, a previous transformation of the inequality constraints. The second algorithm (Levy and Gomez) employs an active set strategy that takes into account, in each gradient or restoration phase, only those inequality constraints which are violated or which are at the limit. Both methods are well suited for the ''compact reduced'' model chosen by the Authors for real power dispatch, leading to the solution of small linear systems in each gradient or restoration phase. More over some modifications of the algorithms have been tested; one of these ...
Service, Alaska Regional Office Prince William Sound, photo: Mandy Lindeberg Office of Exxon Valdez Oil Spill (EVOS) Damage Assessment and Restoration About NOAA Fisheries' EVOS...
... of the American Medical Association JAMA PATIENT PAGE Cardiopulmonary Resuscitation W hen the heart stops beating (cardiac arrest), ... circulation (blood flow) returns or is restored. Providing cardiopulmonary resuscitation ( CPR ) is a way to keep some circulation ...
All ceramic fixed partial dentures (FPD)s exhibit enhanced biocompatibility and esthetics as compared to metal-ceramic restorations. However, framework fractures are frequently reported especially when...Full Text Available
This report is a summary of the environmental status of the Hanford Site in 1989. It includes descriptions of the Site and its mission, the status of compliance with environmental regulations, planning and activities to accomplish compliance, environmental protection and restoration activities, and environmental monitoring. 97 refs., 67 figs., 14 tabs.
Place fields of hippocampal pyramidal cells expand asymmetrically when adult rats repeatedly follow the same route. This behaviorally-induced expression of neuronal plasticity utilizes an NMDAR-dependent,...Full Text Available
This peer-reviewed article from Bioscience journal is about restoring the Truckee river.Throughout the 20th century, the Truckee River that flows from Lake Tahoe into the Nevada desert was progressively dammed and dewatered, which led to the collapse of its aquatic and riparian ecosystems. The federal designation of the endemic cui-ui sucker (Chasmistes cujus) as endangered prompted a restoration program in the 1980s aimed at increasing spring flows to permit fish spawning. These flows did promote cui-ui reproduction, as well as an unanticipated benefit, the extensive seedling recruitment of Fremont cottonwood (Populus fremontii) and sandbar willow (Salix exigua). Recruitment was scattered in 1983 but extensive in 1987, when the hydrograph satisfied the riparian recruitment box model that had been developed for other rivers. That model was subsequently applied to develop flow prescriptions that were implemented from 1995 through 2000 and ...
BackgroundThiazolidinediones (TZDs) activate peroxisome proliferator-activated receptor gamma (PPARγ) and are used clinically to help restore peripheral insulin sensitivity...Full Text Available
There has been a major interest in the drug treatment of osteoporosis and an increase in the number of drugs available in most countries. The ideal drug (one which increases or restores bone density...Full Text Available
The collapse of major histocompatiblity complex (MHC) class-I-dependent immune privilege can lead to autoimmune disease or fetal rejection. Pragmatic and instructive models are needed to clarify the...Full Text Available
A new method for removing periodic background patterns from pictures is presented. The basic spatial frequency composition of the pattern is determined from an estimate of the power spectrum of the picture. A digital restoration filter is then created from a modified version of the power spectrum. The method is extremely effective and can be automated.
Adaptive image processing is one of the most important techniques in visual information processing, especially in early vision such as image restoration, filtering, enhancement, and segmentation. This work focuses on applications of advanced CI techniques in image processing applications
BackgroundObesity is one of the principal causative factors involved in the development of metabolic syndrome. AMP-activated protein kinase (AMPK) is an energy sensor that regulates...Full Text Available
A transient-enhanced diffusion has been observed during the furnace or rapid thermal annealing of As-implanted Si. The relations of the enhanced diffusion to residual defects and lattice restoration have been studied in detail. The As concentration profiles and residual defects are measured. It is found from the data that the lattice has been restored when the implanted sample is annealed at 1150 deg C (or 1050 deg C) for 1s. The defect density decreases rapidly with increase of annealing time (from 1 to 12s). The enhanced diffusion coefficient maximum appears in the annealing time ranging from 1 to 5s. Allmost a 'complete' annealing of displacemet damage is obtained and the diffusion coefficient is less than that in above-mentioned conditions when the implanted samples are annealed at 1150 deg C in the time ranging from 12 to 20s. the mechanism of lattice restoration and enhanced diffusion in annealing process have been ...
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...
We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.
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...
We have developed a cell-mediated mutagenesis assay in which cells with the appropriate markers for mutagenesis are co-cultivated with either lethally irradiated rodent embryonic cells that can metabolize carcinogenic hydrocarbons or with primary rat liver cells that can metabolize chemicals carcinogenic to the liver. During co-cultivation, the reactive metabolites of the procarcinogen appear to be transmitted to the mutable cells and induce mutations in them. Assays of this type make it possible to demonstrate a relationship between carcinogenic potency of the chemicals and their ability to induce mutations in mammalian cells. In addition, by simultaneously comparing the frequencies of transformation and mutation induced in normal diploid hamster cells by benzo(a)pyrene (BP) and one of its metabolites, it is possible to estimate the genetic target size for cell transformation in vitro.
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.
Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...
'As part of the Computer Protection Plan, this Network Security Plan identifies the specific security measures used to protect Bechtel Hanford, Inc.'s (BHI's) enterprise network. The network consists of the communication infrastructure and information systems used by BHI to perform work related to the Environmental Restoration Contract (ERC) at the Hanford Site. It provides electronic communication between the ERC-leased facilities in Richland, Washington, and facilities located on the Hanford Site. Network gateways to other site and offsite networks provide electronic communication with the remainder of the Hanford community.'
Aim: Several studies have investigated the expression of the cytokeratins (CKs), vimentin, the epithelial growth factor receptor (EGFR), the oestrogen receptor (ER), and the progesterone...Full Text Available
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
A brief overview if provided of selected reports presented at the International Symposium on Molecular Mechanisms of Radiation- and Chemical Carcinogen-Induced Cell Transformation held at Mackinac Island, Michigan on September 19-23, 1993.
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
Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in...Full Text Available
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
p53 is one of the most mutated tumor suppressors in human cancers and as such has been intensively studied for a long time. p53 is a major orchestrator of the cellular response to a broad array...Full Text Available
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
Mutations in SOX9, a gene essential for chondrocyte differentiation cause the human disease campomelic dysplasia (CD). To understand how SOX9 activates transcription, we characterized...Full Text Available
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
The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
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
Epidermal growth factor receptor (EGFR)-specific monoclonal antibodies predominantly inhibit colorectal cancer (CRC) growth by interfering with receptor signaling. Recent analyses have shown that patients...Full Text Available
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 ...
SUMMARYThe biologic and clinical significance of KIT overexpression that associates with KIT gain-of- function mutations occurring in subsets...Full Text Available
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
A DNA sequence encoding the A chain of ricin toxin (RTA) from the castor bean plant, Ricinus communis, was placed under GAL1 promoter control and transformed into Saccharomyces cerevisiae. Induction...Full Text Available
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
Human cytomegalovirus (HCMV) in clinical material cannot replicate efficiently in vitro until it has adapted by mutation. Consequently, wild-type HCMV differ fundamentally from the passaged strains...Full Text Available
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 ...
Some cases of autism spectrum disorder (ASD) have mutations in the lipid phosphatase, Pten (phosphatase and tensin homolog on chromosome 10). Tissue...Full Text Available
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
BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available
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
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available
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
BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available
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
BackgroundAmyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients....Full Text Available
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
The genomic viral RNA (vRNA) segments of influenza A virus contain specific packaging signals at their termini that overlap the coding regions. To further characterize cis-acting signals...Full Text Available
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
BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available
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
Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor...Full Text Available
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
A method has been developed to predict the effects of mutations in the p53 cancer suppressor gene. The new method uses novel parameters combined with previously established parameters. The most important...Full Text Available
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
One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present...Full Text Available
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
A mutation in a new gene, molR, prevented the synthesis in Escherichia coli of molybdoenzymes, including the two formate dehydrogenase isoenzymes, nitrate reductase and trimethylamine-N-oxide reductase....Full Text Available
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
BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available
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
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes...Full Text Available
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
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available
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
Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available
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
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
The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available
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
Glioblastoma, the most common malignant brain tumor, is among the most lethal and difficult cancers to treat. Although epidermal growth factor receptor (EGFR) mutations are frequent in glioblastoma,...Full Text Available
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
While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available
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
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
BACKGROUND: H2-histamine receptors mediate a wide range of physiological functions extending from stimulation of gastric acid secretion to induction of human promyelocyte differentiation. We have previously...Full Text Available
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
N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired ...
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
Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available
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
PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available
Most colorectal cancers have mutations in the tumor suppressor APC. The best-understood function of APC is its participation in a protein complex that regulates the availability of β-catenin....Full Text Available
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
Cancers are highly heterogeneous and contain many passenger and driver mutations. To functionally identify tumor suppressor genes relevant to human cancer, we compiled pools of short harpin...Full Text Available
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
The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines...Full Text Available
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
PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available
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 ...
ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available
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
Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available
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
Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the ...
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 ...
The Department of the Interior is custodian of approximately 500 million acres of federally owned land and has an important role to play in the management of wetlands. To contribute to the President's goal of no net loss of America's remaining wetlands, the Department of the Interior has initiated a 3-point program consisting of wetlands protection, restoration, and research: Wetlands Protection--Reduce wetlands losses on federally owned lands and encourage state and private landholders to practice wetlands conservation; Wetlands Restoration--Increase wetlands gains through the restoration and creation of wetlands on both public and private lands; Wetlands Research--Provide a foundation of scientific knowledge to guide future actions and decisions about wetlands. The audiovisual is a slide/tape-to-video transfer illustrating the various ways Interior bureaus are working to preserve our Nation's ...
It is generally recognized that the Remedial Investigation/Feasibility Study (RI/FS) process can be time-consuming and costly. To expedite the process, the Environmental Protection Agency, through the National Contingency Plan and Office of Solid Waste and Emergency Response (OSWER) Directives, has promoted streamlining'' the RI/FS. The concept of streamlining is directly applicable to Resource Conservation and Recovery Act (RCRA) Remedial Facility Investigation/Corrective Measure Study (RFI/CMS) as well. The US Department of Energy's (DOE's) environmental restoration process promises to be lengthy and expensive: therefore, the Office of Environmental Restoration (EM-40) believes that it is to incorporate streamlining into RI/FS and RFI/CMS efforts across the DOE complex. The Office of Program Support (EM-43) has asked Pacific Northwest Laboratory (PNL) to provide presentations and workshops on streamlining ...
In accordance with the Department of Energy`s National Environmental Policy Act implementing procedures in Volume 10 of the Code of Federal Regulations, Section 1021,312, the Environmental Restoration and Waste Management Programmatic Environmental Impact Statement Implementation Plan has two primary purposes: to provide guidance for the preparation of the Programmatic Environmental Impact Statement and to record the issues resulting from the scoping and the extended public participation process. The Implementation Plan identifies and discusses the following: background of Environmental Restoration and Waste Management activities, the purpose of the Programmatic Environmental Impact Statement, and the relationship of the Programmatic Environmental Impact Statement to other Departmental initiatives (Chapter 1); need and purposes for action (Chapter 2); scoping process and results of the public participation program in defining the scope of the ...
This document defines the quality system requirements for the US Department of Energy, Richland Operations Office (DOE-RL), Environmental Restoration (ER) Project at the Hanford Site. The Environmental Restoration Project Quality System Requirements for the Hanford Site integrates quality assurance requirements from the DOE Orders, the Hanford Federal Facility Agreement and Consent Order (Tri-Party Agreement), the Hanford Facility Resource Conservation and Recovery Act of 1976 (RCRA) Permit, and applicable Federal and Washington State regulations. This document, based on ten criteria, provides user organizations with the flexibility to incorporate only those criteria and paragraphs applicable to their specific scopes of work. The requirements of this document are to be applied based on a graded approach that takes into consideration the risk inherent in, as well as the importance of, specific items, services, and activities. The user ...
The research work carried out on mutation breeding in Egypt during the 1980s is summarized. Several mutations have been developed in bread wheat, maize, rice and barley. A higher yield, tolerance to salinity, shorter types and earliness were obtained after use of different mutagens and growth regulators. Great attention has been paid to the fababean and chickpea, particularly in improving their quality and quantity of protein, and their resistance to insect weevils such as Callosobruchus sp. Tolerance or resistance to broom rape has also been reported. Various grain legumes such as lentil, pea, cowpea, bean, fenugreek and lupin received some attention. Mutation work on fibre crops such as cotton, kenaf and flax has led to some promising results. Zero type, glandless and early maturing mutants were obtained in cotton, and early flowering, high yielding (fibre or oil) mutants in flax. Some attention has been given to oil ...
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 ...
We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these ...
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 ...
Radionuclide X-ray fluorescence analysis (RXRFA), as a non-destructive method, relatively simple and allowing measurements to be carried out in situ, is an excellent tool in research on various objects of art. A range of artefacts have been investigated by our laboratory, in part for the purposes of history of art and in part as a basis for restoration works - medieval frescoes in some Czech castles and churches, metal sculptures and objects of applied art, paints and inks of old manuscripts, paintings. Some of these are among the most valuable monuments in the Czech cultural heritage. The contribution of the results of the tests to the investigation of their 'life story' and, in some cases, to their conservation, is not negligible. Later additions and repairs can be recognised, and materials and technologies that are close to their historic counterparts can be used in restoration work.
Radionuclide X-ray fluorescence analysis (RXRFA), as a non-destructive method, relatively simple and allowing measurements to be carried out in situ, is an excellent tool in research on various objects of art. A range of artefacts have been investigated by our laboratory, in part for the purposes of history of art and in part as a basis for restoration works - medieval frescoes in some Czech castles and churches, metal sculptures and objects of applied art, paints and inks of old manuscripts, paintings. Some of these are among the most valuable monuments in the Czech cultural heritage. The contribution of the results of the tests to the investigation of their 'life story' and, in some cases, to their conservation, is not negligible. Later additions and repairs can be recognised, and materials and technologies that are close to their historic counterparts can be used in restoration work.
Surveillance and maintenance (S & M) of 75 sites were conductd by the Remedial Action Section for the Environmental Restoration Program for surplus facilities and sites contaminated with radioactive materials and/or hazardous chemicals. S & M activities on these sites were conducted from the end of their operating life until final facility disposal or site stabilization. The objectives of the Waste Area Grouping S & M Program are met by maintaining a program of routine S & M as well as by implementing interim corrective maintenance when deemed necessary as a result of site surveillance. This report briefly presents this program`s activities and includes tables indicating tank levels and dry well data for FY 1991.
The Soviet Union does not currently have an overall radioactive waste management program or national laws that define objectives, procedures, and standards, although such a law is being developed, according to the Soviets. Occupational health and safety does not appear to receive major attention as it does in Western nations. In addition, construction practices that would be considered marginal in Western facilities show up in Soviet nuclear power and waste management operations. The issues involved with radioactive waste management and environmental restoration are being investigated at several large Soviet institutes; however, there is little apparent interdisciplinary integration between them, or interaction with the USSR Academy of Sciences. It is expected that a consensus on technical solutions will be achieved, but it may be slow in coming, especially for final disposal of high-level radioactive wastes and environmental restoration of ...
The Soviet Union does not currently have an overall radioactive waste management program or national laws that define objectives, procedures, and standards, although such a law is being developed, according to the Soviets. Occupational health and safety does not appear to receive major attention as it does in Western nations. In addition, construction practices that would be considered marginal in Western facilities show up in Soviet nuclear power and waste management operations. The issues involved with radioactive waste management and environmental restoration are being investigated at several large Soviet institutes; however, there is little apparent interdisciplinary integration between them, or interaction with the USSR Academy of Sciences. It is expected that a consensus on technical solutions will be achieved, but it may be slow in coming, especially for final disposal of high-level radioactive wastes and environmental restoration of ...
Statement of problem Computer-aided design/computer-aided manufacturing (CAD/CAM) titanium ceramic restorations were developed with the potential for replacing expensive, high noble metal ceramic restorations. However, there is a lack of information about the clinical performance of CAD/CAM titanium ceramic single crowns. Purpose The purpose of this study was to evaluate CAD/CAM titanium ceramic single crowns after 3 years in function. Material and methods A total of 41 crowns were fabricated for 21 patients. The titanium copings were CAD/CAM milled (Everest CAD/CAM system) with an even thickness of 0.5 mm, and low-fusing veneering porcelain (Vita Titanium Porcelain) was added incrementally. The crowns were cemented using zinc phosphate cement after confirming that there were no mechanical...
This bill was introduced into the US House of Representatives on June 7, 1991 to provide for the designation of Wetlands Stewardship Trusts. This legislation amended the Internal Revenue Code of 1986 to establish special rules for contributions of wetlands and riparian lands to Wetlands Stewardship Trusts. Key features of the bill address the following: tax treatment of donations of wetlands and riparian lands to Wetlands Stewardship Trusts; amortization of expenditures to restore wetlands and riparian lands; expenditures for restoring wetlands and riparian lands; exclusion from gross income for amounts received from compatible uses of wetlands or riparian lands; and income from compatible uses of wetlands or riparian lands.
Statement of problem Inadequate dimensioning of the connectors in a cantilever cross-arch fixed dental prosthesis (FDP) in perioprosthetic patients jeopardizes the prognosis of the restoration. Purpose The purpose of this study was to investigate the effect of increasing the vertical dimension (VD) on the maximum stress developed within the connectors during the static loading of a cross-arch FDP extended as a 1- and 2-unit cantilever. Material and methods Six digital models were developed, derived from a 3-dimensional (3-D) initial model. In the initial model, the teeth were prepared for metal ceramic restorations and splinted with a cross-arch FDP, extended as a 1- or 2-unit cantilever. The VDs of the connectors proximal to the retaining abutment were 3, 4, or 5 mm. A 3-D finite element ...
To test the hypothesis that transduction of the channelrhodopsin-2 (ChR2) gene, a microbial-type rhodopsin gene, into retinal ganglion cells of genetically blind rats will restore functional vision, we recorded visually evoked potentials and tested the experimental rats for the presence of optomotor responses. The N-terminal fragment of the ChR2 gene was fused to the fluorescent protein Venus and inserted into an adeno-associated virus to make AAV2-ChR2V. AAV2-ChR2V was injected intravitreally into the eyes of 6-month-old dystrophic RCS (rdy/rdy) rats. Visual function was evaluated six weeks after the injection by recording visually evoked potentials (VEPs) and testing optomotor responses. The expression of ChR2V in the retina was investigated histologically. We found that VEPs could not b...
Native plant individuals often persist within communities dominated by exotics but the influence of this exposure on native populations is poorly understood. Selection for traits contributing to competitive ability may lead to native plant populations that are more tolerant of the presence of exotic invaders. In this way, long-term coexistence with an exotic may confer competitive advantages to remnant (experienced) native populations and be potentially beneficial to restoration. In past studies we have documented genetic differentiation within native grass populations exposed to the exotic invader Russian knapweed (Acroptilon repens). Here, we examine populations of a cool-season grass, needle-and-thread (Hesperostipa comata [Trin. & Rupr.]) and a warm season, alkali sacaton (Sporobolus a...
Abstract Alcoa World Alumina Australia mines bauxite under lease agreements with the Government of Western Australia. The leases lie in the Darling Range to the east of Perth, the capital and major population center. In addition to bauxite and other mineral ores, the Darling Range is a major potable water source and harbors a species-rich forest dominated by Jarrah (Eucalyptus marginata), a significant commercial timber. Conservation and recreation are important land uses in the region. Social and political pressures have led to stringent governmental requirements for restoration. In addition, a summer drought period, a soil deficient in most nutrients, water management challenges, an introduced disease, caused by Phytophthora cinnamomi Rands, and a post-mining ecosystem that must be condu...
A mutation to tetracycline sensitivity in a resistant strain of Streptococcus pneumoniae was shown by several criteria to be due to a point mutation in the conjugative o(cat-tet) element found in the chromosomes of strains derived from BM6001, a clinical strain resistant to tetracycline and chloramphenicol. Strains carrying the mutation were transformed back to tetracycline resistance with the high efficiency of a point marker by donor deoxyribonucleic acids from its ancestral strain and from nine other clinical isolates of pneumococcus and by deoxyribonucleic acids from Group D Streptococcus faecalis and Group B Streptococcus agalactiae strains that also carry conjugative tet elements in their chromosomes. It was not transformed to resistance by tet plasmid deoxyribonucleic acids from either gram-negative or gram-positive species, except for one that carried transposon TN916, the conjugative tet element present in the ...
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 (...
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 ...
IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...
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.)
November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.
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).
We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60degreeC). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at hi...
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 ...
Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...
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)
We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908
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...
Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.
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;...
Volume four contains calculations for: Borrow areas--site evaluation; temporary facilities--material quantities; embankment quantities--excavation and cover materials; Burro Canyon site excavation quantities--rippable and unrippable materials; site restoration--earthwork quantities and seeding; and bid schedule quantities and material balance.
BackgroundLand plant genomes contain multiple members of a eukaryote-specific gene family encoding proteins with pentatricopeptide repeat (PPR) motifs. Some PPR proteins were shown...Full Text Available
BackgroundHIV infection causes a qualitative and quantitative loss of CD4+ T cell immunity. The institution of anti-retroviral therapy (ART) restores CD4+ T...Full Text Available
...Project objectives to restore/create network of secure lapwing breeding sites to provide conservation management advice to planners, developers and land managers to raise awareness of lapwing conservation issues in the local areaKey dates so far First pair of lapwing breeding at Parc Bryn Bach, mitigation site for loss of a nearby large lapwing breeding colony, in May 2008Work planned or underway Continued working with developers and landowners to ...
An economical way to reduce the deleterious effects of titanium, one of the impurities present in metallurgical grade silicon material, is disclosed. By adding copper to approximately the same concentration level of the titanium during the melting process, the conversion efficiency will be restored to about 99.3% of what it would have been if the single crystal silicon had been grown free of titanium impurities.
The bibliography contains citations concerning Federal and state laws and management programs for the protection and use of inland wetlands. Utilization of wetlands to control highway runoff and community wastewater is discussed. Wetlands protection programs, restoration projects, resource planning, and wetlands identification methods are cited. References to coastal and salt water wetlands are not included in this bibliography. (Contains 250 citations and includes a subject term index and title list.)
A diverse set of digital image-processing applications exists at the Lawrence Livermore National Laboratory. While many of these include some sort of image analysis or restoration, virtually all of them require image-enhancement procedures. In this paper we describe the principal image-processing facility at the Laboratory, followed by a discussion of several of the major image-processing application areas.
This is a progress report from the Health and Safety Research Division of Oak Ridge National Laboratory. Information is presented in the following sections: Assessment Technology, Biological and Radiation Physics, Chemical Physics, Biomedical and Environmental Information Analysis, Risk Analysis, Center for Risk Management, Associate Laboratories for Excellence in Radiation Technology (ALERT), and Contributions to National and Lead Laboratory Programs and Assignments--Environmental Restoration.
The tumor suppressor p53 is often inactivated in breast cancer cells because the overexpression of its repressors (e.g., MDM2 and MDMX). Restoration of p53 activity by small molecules through counteracting...Full Text Available
Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic...Full Text Available
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
While a great deal of evidence has directly implicated the importance of O6-alkylation of guanine in the mutagenicity of alkylating agents, evidence demonstrating the oncogenic potential of this lesion...Full Text Available
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 ...
BackgroundSelection of hepatitis B virus (HBV) by host immunity has been suggested to give rise to variants with amino acid substitutions at or around the 'a' determinant...Full Text Available
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)
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)
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
During protein synthesis, aminoacyl-tRNA (aa-tRNA) and release factors 1 and 2 (RF1 and RF2) have to bind at the catalytic center of the ribosome on the 50S subunit where they take part in peptide bond...Full Text Available
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
In Streptococcus pneumoniae, CpsB, CpsC, and CpsD are essential for encapsulation, and mutants containing deletions of cpsB, cpsC, or cpsD...Full Text Available
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
DescriptionThis project is part of the BBSRCs special initiative on plant and microbial metabolomics. The project will primarily focus on the trichothecene mycotoxin producing Ascomycete fungus Fusarium graminearum (Fg) which causes ear blight disease of small grain cereals. The project aims to explore the metabolome of various wild-type and single gene deletion Fg strains and to compare some of these with the identical gene mutation in the budding yeast, S. cerevisiae (Sc) and the saprophytic filamentous [continued...
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.).
Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase ...
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 ...
Mutagenesis of Lupinus mutabilis was started at the UNA LM (Peru) to obtain mutants with low alkaloid content and early germination. Varieties SCG 25 and Lib 020 were irradiated with gamma radiation. The optimum dose for the SCG 25 variety was 15 Krad and for Lib 020 15 to 20 Krad. The relation between the plant height and radiation dose fits the quadratic polynomial model.
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).
The periodic mode is analyzed together with two conventional boundary handling modes for particle swarm. By providing an infinite space that comprises periodic copies of original search space, it avoids possible disorganizing of particle swarm that is induced by the undesired mutations at the boundary. The results on benchmark functions show that particle swarm with periodic mode is capable of improving the search performance significantly, by compared with that of conventional modes and other algorithms.
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)
Oxidized DNA bases, particularly 7,8-dihydro-8-oxoguanine (8-oxoG), are endogenously generated in cells, being a cause of carcinogenic mutations and possibly interfering with gene expression. We found...Full Text Available
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
Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp...Full Text Available
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.
Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available
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 ...
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available
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 ...
Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available
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
BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available
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
The LANL Environmental Restoration (ER) Program Office, established in October 1989, is faced with the challenge of assessing and cleaning up nearly 1,8000 potentially hazardous waste sites according to an aggressive corrective action schedule that the Environmental Protection Agency (EPA) mandated on May 23, 1990, in a Resource, Conservation, and Recovery Act (RCRA) Part B Permit. To maximize program efficiency, the ER Program Office will implement a unique management approach designed to maximize the use of laboratory technical expertise. The Installation Work Plan, which provides a blueprint for the program, has been submitted to EPA for review and approval. A work plan for characterization of Technical Area 21, an early plutonium processing facility, is also nearing completion. The feasibility of an expedited cleanup of the Laboratory's worst hazardous waste release has been modelled using a computer code originally developed by LANL to assist the ...
The Savannah River Swamp is a 3,020 Ha forested wetland on the floodplain of the Savannah River and is located on the Department of Energy`s Savannah River Site (SRS). Major impacts to the swamp hydrology occurred with the completion of the production reactors and one coal-fired powerhouse at the SRS in the early 1950`s. Water was pumped from the Savannah River, through secondary heat exchangers of the reactors, and discharged into three of the tributary streams that flow into the swamp. This continued from 1954 to 1988 at various levels. The sustained increases in water volume resulted in overflow of the original stream banks and the creation of additional floodplains. Accompanying this was considerable erosion of the original stream corridor and deposition of a deep silt layer on the newly formed delta. Heated water was discharged directly into Pen Branch and water temperature in the stream often exceeded 50 C. The nearly continuous flood of the swamp, the thermal load of the water, ...
The radioprotective effects of Liv.52 on tissue-reduced glutathione (GSH) levels were studied in rats. Adult female Sprague Dawley rats were exposed to whole body gamma radiation of 4 Gy and 8 Gy. Prior to radiation exposure, Liv.52 was fed, one ml per rat, daily for 15 days. Three days after radiation exposure, reduced glutathione levels in the liver, spleen, kidney and blood were studied. Liv.52 was beneficial in restoring the spleen weight to body weigh t ratio in the animals of the 4 Gy group. In the spleen and liver, Liv.52 helped to restore reduced glutathione in sub-lethally exposed rats. Blood-reduced glutathione was found to be normal in both groups of experimental rats who received Liv.52. The above results exhibit the radioprotective effects of Liv.52 in relation to tissue-reduced glutathione in experimental rats exposed to sub-lethal doses of radiation. (author). 3 tabs., 25 refs.
This paper summarizes the progress to date by CH2M HILL and the UKAEA in development of a parametric modelling capability for estimating the costs of large nuclear decommissioning projects in the United Kingdom (UK) and Europe. The ability to successfully apply parametric cost estimating techniques will be a key factor to commercial success in the UK and European multi-billion dollar waste management, decommissioning and environmental restoration markets. The most useful parametric models will be those that incorporate individual components representing major elements of work: reactor decommissioning, fuel cycle facility decommissioning, waste management facility decommissioning and environmental restoration. Models must be sufficiently robust to estimate indirect costs and overheads, permit pricing analysis and adjustment, and accommodate the intricacies of international monetary exchange, currency fluctuations and contingency. The development ...
This paper summarizes the progress to date by CH2M HILL and the UKAEA in development of a parametric modelling capability for estimating the costs of large nuclear decommissioning projects in the United Kingdom (UK) and Europe. The ability to successfully apply parametric cost estimating techniques will be a key factor to commercial success in the UK and European multi-billion dollar waste management, decommissioning and environmental restoration markets. The most useful parametric models will be those that incorporate individual components representing major elements of work: reactor decommissioning, fuel cycle facility decommissioning, waste management facility decommissioning and environmental restoration. Models must be sufficiently robust to estimate indirect costs and overheads, permit pricing analysis and adjustment, and accommodate the intricacies of international monetary exchange, currency fluctuations and contingency. The development ...
In vivo effects of toxaphene on calcium pump activity in rat brain synaptosomes was studied. Male Sprague-Dawley rats were dosed with toxaphene at 0,25,50, and 100 mg/kg/day for 3 days and sacrificed 24 h after last dose. Ca/sup 2 +/-ATPase activity and /sup 45/Ca uptake were determined in brain P/sub 2/ fraction. Toxaphene inhibited both Ca/sup 2 +/-ATPase activity and /sup 45/Ca/sup 2 +/ uptake and the inhibition was dose dependent. Both substrate and Ca/sup 2 +/ activation kinetics of Ca/sup 2 +/-ATPase indicated non-competitive type of inhibition as evidenced by decreased catalytic velocity but not enzyme-substrate affinity. The inhibited Ca/sup 2 +/-ATPase activity and Ca/sup 2 +/ uptake were restored to normal level by exogenously added calmodulin which increased both velocity and affinity. The inhibition of Ca/sup 2 +/-ATPase activity and Ca/sup 2 +/ uptake and restoration by calmodulin suggests that toxaphene may impair active calcium ...
In vivo effects of toxaphene on calcium pump activity in rat brain synaptosomes was studied. Male Sprague-Dawley rats were dosed with toxaphene at 0,25,50, and 100 mg/kg/day for 3 days and sacrificed 24 h after last dose. Ca"2"+-ATPase activity and "4"5Ca uptake were determined in brain P_2 fraction. Toxaphene inhibited both Ca"2"+-ATPase activity and "4"5Ca"2"+ uptake and the inhibition was dose dependent. Both substrate and Ca"2"+ activation kinetics of Ca"2"+-ATPase indicated non-competitive type of inhibition as evidenced by decreased catalytic velocity but not enzyme-substrate affinity. The inhibited Ca"2"+-ATPase activity and Ca"2"+ uptake were restored to normal level by exogenously added calmodulin which increased both velocity and affinity. The inhibition of Ca"2"+-ATPase activity and Ca"2"+ uptake and restoration by calmodulin suggests that toxaphene may impair active calcium transport mechanisms by decreasing regulator protein ...
The Department of Energy`s Office of Technology Development initiated an Integrated Demonstration Program at the Savannah River Site in 1989. The objective of this program is to develop, demonstrate, and evaluate innovative technologies that can improve present-day environmental restoration methods. The Integrated Demonstration Program at SRS is entitled ``Cleanup of Organics in Soils and Groundwater at Non-Arid Sites.`` New technologies in the areas of drilling, characterization, monitoring, and remediation are being demonstrated and evaluated for their technical performance and cost effectiveness in comparison with baseline technologies. Present site characterization and monitoring methods are costly, time-consuming, overly invasive, and often imprecise. Better technologies are required to accurately describe the subsurface geophysical and geochemical features of a site and the nature and extent of contamination. More efficient, nonintrusive characterization and ...
Anadromous salmon in the Columbia River Basin are presently far below historic level of production, due to the impacts of development in the basin. To halt the downward trend in production and ultimately increase returns, the Northwest Power Planning Council developed the Columbia River Basin Fish and Wildlife Program. The Program outlines a coordinated plan for restoring anadromous salmonid runs to the basin. The goals and objectives outlined in the Program require addressing a complex set of problems that encompass a broad range of social, political, economic and biological issues. Resolution of these problems will require the efforts of a number of federal, state, and tribal agencies that have regulatory authority over activities that either directly or indirectly affect anadromous salmonids in the basin. Resource managers have realized the need for coordination in these efforts. The Coordinated Information System is designed to share information critical to ...
ObjectivesThe aim of this study was to evaluate the relationship between micro-tensile bond strength (mTBS) and ultimate tensile strength (UTS) of resin composite restorations in cavities filled by a bulk or incremental technique using the micro-tensile test.MethodsClass I cavities (4mm long, 3mm wide, 3mm deep) were prepared into dentine of sixteen human molars. All cavities were bonded with Clearfil SE Bond and restored with AP-X composite with either a bulk or incremental technique. After storage in water for 24h, the teeth were vertically sectioned to yield two slabs. Each slab was sectioned into three sticks. Sticks of one slab were trimmed into an hourglass of 0.7mm2 area at resin-dentine interface for bond strength measurement while the other sticks were trimmed at the centre of the...
The principle is described of X-ray fluorescence analysis and the manner of detecting the emitted characteristic radiation. The advantages are presented of radionuclide X-ray fluorescence analysis which consist primarily in the possibility of conducting a totally non-destructive analysis, and of accurate and relatively narrow localization of the analyzed area, the simultaneous qualitative and quantitative determinations of a large number of elements in the order of concentrations 10"1 to 10"-"4%, stability of excitation radiation flux, simple design and relatively low capital costs. The so-called matrix effect is pointed to. A number of examples is given of the use of the cited method, including its use in the analysis of art objects. (J.B.).
Following the Hungerford Massacre the British Government imposed additional strict firearms legislation in 1988 that involved several classes of arms being placed into the prohibited category. By way of compensation a scheme was introduced to allow the unrestricted possession and transfer of the newly prohibited arms, other firearms and "prohibited weapons", if de-activated to a standard acceptable to the Secretary of State. Approved standards for firearm de-activation were drawn up in 1989. The inspection of the de-activated arms was devolved to the two Gun Barrel Proof Houses at London and Birmingham, as otherwise the task of inspecting the thousands of guns involved would have overloaded the firearms section at the Huntingdon Forensic Science Service Laboratory, who were already dealing with criminal firearms cases submitted by 41 of the 43 police forces throughout England and Wales, as well as providing technical assistance to the Home Office and Government Ministers. Members of ...
Due to the general market conditions, the construction of steam turbines was greatly reduced in 1987. As in 1986, it came to a downward movement. This situation will heighten in the coming years. The exploitation of devices, which are available by way of the development of EDP in computation, construction, production and operation, leads to considerable improvements. These improvements can only be employed gradually, due to the reduction in production. However, technological progress can be used economically in part in the restoration of old installations. Here turbine construction, the thermodynamical interpretation of gas and steam turbines, developments in the field of conduction technology, piping and materials are described. Also improvements in operation security and operation supervision of the installations is treated, as well as service and maintenance of the plants. (BR) With 131 refs.
The technology developed here will exploit the ability of microorganisms to remove dissolved metals from aqueous solutions. Microbial sorbents for uranium will be immobilized biosorbents will be deployed ex situ within flow-through reactors for the continuous or semicontinuous treatment of recovered wastewaters. The proposed technology will primarily be applied within a pump-and-treat process using immobilized biosorbents for the large-scale, long-term remediation of uranium-laden surface water or groundwater impoundments (environmental restoration). The technology may be equally useful as an ``end-of-pipe`` treatment of process effluents (waste management). Successful operation of this process will achieve immobilization of the targeted waste and accompanying volume reduction.
This paper presents a decision approach, and associated computer software tools, for prioritizing and selecting among technology development activities. The approach elicits and then summarizes technology development preferences from stakeholders, and then integrates preferences into a set of funding recommendations. By formalizing the technology review process, the decision approach builds consensus and clarifies the basis for final budget decisions. The software development was conducted jointly by Pacific Northwest Laboratory and Decisions Science Associates, Incorporated. The Underground Storage Tank Integrated Demonstration funded the task; however, the approach should also be valuable to the US Department of Energy Office of Technology Development, the Office of Waste Management, and the Office of Environmental Restoration.
Radioactive "1"4C sucrose was found to be an ideal marker for microleakage because it did not penetrate tooth tissue, dental cement, or mounting resin. The main finding is that the adhesive cements--the glass-ionomer and polycarboxylate--are significantly more effective at preventing microleakage than are the traditional phosphate cements--silicate and zinc phosphate. The differences can be as high as two orders of magnitude. The adhesive cements provide almost perfect and reliable seals. By contrast, the nonadhesive cements are erratic sealants with most of the restorations leaking.
This bibliography contains citations concerning Federal and state laws and management programs for the protection and use of inland wetlands. Utilization of wetlands to control highway runoff and community waste water is discussed. Wetlands protection programs, restoration projects, resource planning, and wetlands identification methods are cited. References to coastal and salt-water wetlands are excluded from this bibliography. (This updated bibliography contains 219 citations, 37 of which are new entries to the previous edition.)
This bill was introduced into the US House of Representatives on February 19, 1992 to amend the Federal Water Pollution Control Act for the protection of wetlands. One of the key elements of the bill revolves around the expansion of scope and clarification of the permit program and its effects on wetlands. Additional sections address the following: exemptions for agriculture and other activities; rulemaking on prior converted wetlands; citizen suits amendments; improvement of administration of wetlands permitting; study of wetlands delineation; and wetlands restoration pilot program.
17 papers are presented. Topics covered include: the POG system - a new concept in the use of ANFO; demolition of a motorway bridge; presplit and smooth blasting; VIBReX - a predictive code for assessing the effect of blast design on ground vibration; ground vibrations from blasting; digital seismographs; human response to blasting and the effects on planning conditions; landform construction by restoration blasting; use of small diameter explosives; efficient priming; safety management in the explosives industry; and the law on packaging of explosives. Two papers have been abstracted separately.
The Environmental Measurements Laboratory (EML) is government-owned, government-operated, and programmatically under the DOE Office of Environmental Management. The Laboratory is administered by the Chicago Operations Office. EML provides program management, technical assistance and data quality assurance for measurements of radiation and radioactivity relating to environmental restoration, global nuclear nonproliferation, and other priority issues for the Department of Energy, as well as for other government, national, and international organizations. This report presents the technical activities and accomplishments of EML for Fiscal Year 1998.
A typical incident response pits technicians against networks that aren't prepared forensically. [1, 2] If practitioners do consider collecting network forensic data, they face a choice between expending extraordinary effort (time and money) collecting forensically sound data, or simply restoring the network as quickly as possible. In this context, the concept of organizational network forensic readiness has emerged. This paper proposes a methodology for "operationalizing" organizational network forensic readiness. The methodology, and the theoretical analysis that led to its development, are offered as a conceptual framework for thinking about more efficient, proactive approaches to digital forensics on networks.
Primary design criterion for this division`s education activities is directly related to meeting the goal of environmental compliance on an accelerated basis and cleanup of the 1989 inventory of inactive sites and facilities by the year 2019. Therefore, the division`s efforts are directed toward stimulating knowledge and capability to achieve the goals while contributing to DOE`s overall goal of increasing scientific, mathematical, and technical literacy and competency. This annual report is divided into: overview, workforce development, academic partnerships, scholarships/fellowships, environmental restoration and waste management employment program, community colleges, outreach, evaluation, and principal DOE contacts.
The Savannah River Site (SRS), one of several U.S. Department of Energy (DOE) facilities, produces nuclear materials for national defense and for other government and civilian uses. SRS ceased production of defense materials in 1988, and the site's main activities now involve waste management and environmental restoration. These programs have generated extensive effluent monitoring and environmental surveillance programs for the Environmental Monitoring Section (EMS), which performs #approx#105,000 radiological analyses on 30,000 samples a year. Gamma spectroscopy is performed on an estimated 10,000 samples annually. This report describes a program to develop and improve the EMS system.
Robotics technology is successfully being transitioned from space to terrestrial applications. It is being modified and enhanced to help in the US DOE's Environmental Restoration and Waste Management Program. Some examples of these applications, ranging from large multijointed manipulators to autonomously navigated remote vehicles, are outlined in this article. They include the following: underground storage tank technology demonstration; light-duty utility arm system; remotely controlled material-handling system; remotely operated excavator; self-guided transfer vehicle. 10 figs.
The model of the supersymmetrical ball in the supersymmetrical Standard Model with additional global U(1) fermion symmetry is presented. We show that the supersymmetry breaking scale (R-parity), the global U(1) fermion symmetry scale and the electroweak symmetry breaking scale are strictly connected to each other. The realistic ball with M[approx]10[sup 5]-10[sup 9] M[sub s]un and the radius R[approx]10[sup 12]-10[sup 14] cm is obtained. Inside the ball all full symmetries are restored. The ball is stabilized by superpartners and right neutrinos which are massless inside. (orig.)
Biosynthesis of hemoglobin and some of its electrophoretic fractions in red cells of peripheral blood and spleen of irradiated (650 R) rats has been studied. Hemoglobin synthesis is found to be most drastically inhibited in the first and second fractions on the first and eighth days after irradiation and in the fifth and sixth fractions on the eighth day (less expressed). The synthesis is restored on the twelfth day, the process under study proceeding more slowly in the above-mentioned fractions than in others. In the course of radiation sickness, the biosynthesis of certain hemoglobin fractions varies differently in the hemoglobin-synthesizing cells of peripheral blood than in the cells of spleenic erythroid series.
Cold deformation of YBa{sub 2}Cu{sub 3}O{sub 7-x}(phase 123, T{sub c} = 88.5-92 K) powders and strips causes partial decomposition of the 123 phase, a reduction in the degree of orthorhombicity of the structure up to almost complete degradation, and a decrease in T{sub c}. When they are deformed, yttrium high temperature superconductors acquire basal (001) (110) texture with high pole density (13-15 arbitrary units), low scattering angle ({+-} 6deg--7deg from the normal direction), and a weak preference for a, b or a + b in the rolling direction; traces of (139) orientations may also be found. This texture is known to be favourable for increasing j{sub k}. The combined effect of cold deformation and a carbon-containing binder leads, however, to a complete loss of superconductivity at 77 K or above. Depending on the regime of subsequent annealing, the following effects may be observed: degradation of the orthorhombic structure with a decrease in T{sub c}; ...
This plan establishes both the scope of the review and the acceptance criteria to be utilized for the review of Quality Assurance Program Plans (QAPPs) developed in accordance with the requirements of DOE/RL-90-28. DOE/RL-90-28, the Environmental Restoration Remedial Action Quality Assurance Requirements Document (QARD) defines all quality assurance (QA) requirements governing activities that affect the quality of the Environmental Restoration Remedial Action (ERRA) program at the Hanford Site. These requirements are defined in three parts, Part 1 of Quality Management and Administration tasks, Part 2 for Environmental Data Operations, and Part 3 of the Design and Construction of items, systems, and facilities. The purpose of this document is to identify the scope of the review by the DOE Field Office, Richland staff, and establish the acceptance criteria (Parts 1, 2, and 3) that the DOE Field Office, Richland staff will utilize to evaluate the ...
The overall purpose of this project is to evaluate the biological and economic feasibility of restoring high-quality forests on mined land, and to measure carbon sequestration and wood production benefits that would be achieved from forest restoration procedures. In this quarterly report, we present a preliminary comparison of the carbon sequestration potential of forests growing on 14 mined sites in a seven-state region in the Midwestern and Eastern Coalfields. Carbon contents of these forests were compared to adjacent forests on non-mined land. The study was installed as a 3 x 3 factorial in a random complete block design with three replications at each location. The treatments include three forest types (white pine, hybrid poplar, mixed hardwood) and three silvicultural regimes (competition control, competition control plus tillage, competition control plus tillage plus fertilization). Each individual treatment plot is 0.5 acres. Each block ...
The Creating Wetlands in the Oil Sands Reclamation workshop was held to solicit expert views from leading authorities in a number of disciplines related to the creation and study of wetlands, as well as to investigate challenges in the creation of wetlands in reclaimed oil sands landscapes. This document provided a detailed transcript of each presentation and all discussions that followed. The workshop was divided into 5 sessions: (1) wetlands background information; (2) groundwater conditions and boreal wetlands; (3) creating wetland types; (4) wildlife in boreal wetlands and traditional environmental knowledge; and (5) treatment wetlands. An expert panel overview provided presentations on post-mining restoration of boreal landscapes in oil sands regions; the creation of fens, marshes and shallow water wetlands at oil sands sites and the restoration of damaged peatlands. A outline of the physical scale of the oil sands mining disturbances was ...
The long-term durability of bonds between adhesive resins and dentin is of significant importance for the longevity of bonded restorations. We carried out an in vivo one-year study to evaluate the durability of resin-dentin bonds in the oral cavity, as well as to test the hypothesis that the adhesive interface would show morphological changes in vivo over time. Very shallow saucer-shaped dentin cavities were prepared in 12 intact teeth of one Japanese monkey (Macaca fuscata) under general anesthesia. The cavities were restored with Clearfil Liner Bond II and Clearfil Photo Posterior resin composite. The teeth were extracted at three different times: immediately, and 180 and 360 days after placement of the restorations. One day after the monkey was killed, specimens of the three time periods were subjected to the micro-tensile bond test at a crosshead speed of 1 mm/min. The surfaces of the failed bonds were observed under a ...
Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...
Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...
Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.
The production of cellulolytic enzymes from fungi has been extensively studied. Several mutants of Trichoderma reesei were selected. Most of the studies were carried out on T. reesei, T. viride, T. harzianum, Penicillium funiculosum, Altemaria alternata. Aspergillus phoenicis, A. ustus, A. tamarii, A. japonicus, and A. niger. T. koningii is one of the most active producers of the so-called C, factor, which is indispensable for the rapid and extensive attack on crystal-line cellulose. However, Trichodenna is known to excrete only small amounts of {beta}-glucosidase. Therefore, Trichoderma is supplemented with {beta}-glucosidase from Aspergillus to increase the saccharification rate of cellulose to glucose as the main sugar. Induction of mutations in Trichodenna spp. rather than T. viride as a tool for the enhancement of {beta}-glucosidase activity was reported. Unfortunately, T. reesei is a poor producer of {beta}-glucosidase. On the other hand, T. harzianum M{sub ...
Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...
Large-scale field tracer experiments have been conducted on Ulchin and Wolsung nuclear sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear site. 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 the assessment of health effect by radiation and toxic agents, ...
Based on studies on the genetic and molecular basis of Shigella flexneri invasive properties, we have constructed and evaluated a double mutant of S. flexneri serotype 5 for utilization as a live attenuated oral vaccine against shigellosis. The first mutation, icsA, blocks intracellular spread of bacteria as well as cell-to-cell infection. It affects the capacity of the invasive pathogen to form large abscesses in epithelia. The second mutation, iuc, eliminates production of the siderophore aerobactin thus impairing growth of the bacterium within tissues. This double mutant, SC5700 appeared safe when administered intragastrically to macaque monkeys as three doses (5 x 10(10) c.f.u. each) at weekly intervals. Protection against a challenge by the wild type isolate (M90T) was observed 4 weeks after the last vaccine inoculation. Duration of carriage was considerably reduced as compared to the control group in which all animals had developed severe ...
The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...
Efflux of dopamine through the dopamine transporter (DAT) is critical for the psychostimulatory properties of amphetamines, but the underlying mechanism is unclear. Here we show that Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) plays a key role in this efflux. CaMKIIalpha bound to the distal C terminus of DAT and colocalized with DAT in dopaminergic neurons. CaMKIIalpha stimulated dopamine efflux via DAT in response to amphetamine in heterologous cells and in dopaminergic neurons. CaMKIIalpha phosphorylated serines in the distal N terminus of DAT in vitro, and mutation of these serines eliminated the stimulatory effects of CaMKIIalpha. A mutation of the DAT C terminus impairing CaMKIIalpha binding also impaired amphetamine-induced dopamine efflux. An in vivo role for CaMKII was supported by chronoamperometry measurements showing reduced amphetamine-induced dopamine efflux in response to the CaMKII inhibitor KN93. Our data suggest that ...
The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...
The sodium- and potassium-dependent adenosine triphosphatase (Na+,K(+)-ATPase) maintains the transmembrane Na+ gradient to which is coupled all active cellular transport systems. The R and S alleles of the gene encoding the Na+,K(+)-ATPase alpha 1 subunit isoform were identified in Dahl salt-resistant (DR) and Dahl salt-sensitive (DS) rats, respectively. Characterization of the S allele-specific Na+,K(+)-ATPase alpha 1 complementary DNA identified a leucine substitution of glutamine at position 276. This mutation alters the hydropathy profile of a region in proximity to T3(Na), the trypsin-sensitive site that is only detected in the presence of Na+. This mutation causes a decrease in the rubidium-86 influx of S allele-specific sodium pumps, thus marking a domain in the Na+,K(+)-ATPase alpha subunit important for K+ transport, and supporting the hypothesis of a putative role of these pumps in hypertension.
Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...
The purpose of this study was to evaluate the ability to enhance distribution of eelgrass (Zostera marina) in the Columbia River Estuary to serve as refuge and feeding habitat for juvenile salmon, Dungeness crab, and other fish and wildlife. We strongly suspected that limited eelgrass seed dispersal has resulted in the present distribution of eelgrass meadows, and that there are other suitable places for eelgrass to survive and form functional meadows. Funded as part of the Bonneville Power Administration's call for Innovative Projects, we initiated a multistage study in 2008 that combined modeling, remote sensing, and field experimentation to: (1) Spatially predict habitat quality for eelgrass; (2) Conduct experimental plantings; and (3) Evaluate restoration potential. Baseline in-situ measurements and remote satellite observations were acquired for locations in the Lower Columbia River Estuary (LCRE) to determine ambient habitat conditions. These were ...
Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...
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 generated by a number of these protocols. Our programmes suggested some empirical guidelines for library design; however, no information was provided regarding library diversity at the protein (rather than DNA) level. We have now updated our web server, enabling analysis of translated libraries constructed by site-saturation mutagenesis and error-prone PCR (epPCR). We introduce GLUE-Including Translation (GLUE-IT), which finds the expected amino acid completeness of libraries in which up to six codons have been independently varied (according to any user-specified randomization scheme). We provide two tools for assisting with experimental design: CodonCalculator, for assessing amino acids corresponding to given randomized codons; and AA-Calculator, for finding ...
Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L ...
A single amino acid substitution (Asp #-># Asn) at position 138 of E. coli EF-Tu was induced in the tufA gene by an M13 phage oligonucleotide site-directed mutagenesis protocol. The mutated tufA gene was then subcloned in a plasmid vector and expressed in maxicells. The properties of ["3"5S]methionine labelled mutant and wild type EF-Tu's were compared by in vitro assays. Mutant and wild-type EF-Tu's bound EF-Ts with approximately equal affinities. The 138-Asn mutation greatly reduced the protein's affinity for GDP; however, this mutation dramatically increased the proteins affinity for XDP. The mutant protein forms a stable complex with phe-tRNA and XTP, which binds to ribosomes; whereas, it does not form a complex with phe-tRNA and GTP. These results suggest that in EF-Tu x NDP complexes amino acid residue 138 must interact with the substituent on C-2 of the purine ring. Thus in wild-type EF-Tu Asp-138 would H-bond to ...
Clinical and hormonal indices of androgenic activity were compared in 118 males chronically intoxicated with alcohol. The population was divided into two groups with respect to their clinical and hormonal androgenic indices: 76 patients with (Group 1), and 46 patients without (Group 2) androgenic insufficiency. Distinct signs and syndromes of alcohol addiction were shown to correlate with the extent of cross-regulation impairment within hypothalamo-hypophyseo-gonadal system. This was particularly derived from comparison of clinical picture of chronic alcohol intoxication and hormone activity in the groups. Conventional therapy failed to restore the neuroendocrine indices that was apparently due to inhibition of cross-regulation links in the hypothalamo-hypophyseo-gonadal system at several stages of alcohol addiction. PMID:3223149
An asymptomatic pink discoloration of a maxillary right fourth premolar tooth was discovered during a routine oral examination on a 9 year-old Belgian Malinois dog. A radiolucent lesion was seen in the pulpal chamber on radiographic examination. The lesion had perforated the mesiobuccal root of the tooth. The primary differential diagnosis was idiopathic internal resorption. The tooth was treated by partial resection (removal of the mesiobuccal root and associated crown). A vital pulpotomy and amalgam restoration was performed on the remaining tooth structure. A follow-up 1 year later demonstrated a successful treatment outcome. The animal was asymptomatic and able to perform military duties. Clinical and radiographic signs of healing were evident and the tooth was functional. PMID:10518874
Statement of problem The use of titanium has increased for metal ceramic restorations, as well as for use in titanium implants, with developments in CAD/CAM technology. Some surface treatments of titanium have been introduced to enhance the titanium bond strength to low-fusing porcelains; however, a more reliable, easily used dental laboratory method has not been established. Purpose The purpose of this study was to compare the effect of laser etching as a titanium surface treatment with 3 other surface treatments (machining, airborne-particle abrasion, and acid etching), evaluating their ability to enhance the bond strength between a titanium substrate and porcelain. Material and methods A total of 64 specimen rods of commercially pure titanium (ASTM grade 2, 20 mm in length and 5.7 mm in...
Surveillance and maintenance (S M) of 75 sites were conductd by the Remedial Action Section for the Environmental Restoration Program for surplus facilities and sites contaminated with radioactive materials and/or hazardous chemicals. S M activities on these sites were conducted from the end of their operating life until final facility disposal or site stabilization. The objectives of the Waste Area Grouping S M Program are met by maintaining a program of routine S M as well as by implementing interim corrective maintenance when deemed necessary as a result of site surveillance. This report briefly presents this program's activities and includes tables indicating tank levels and dry well data for FY 1991.
Summary 1. In the Greater Yellowstone Ecosystem, bison Bison bison and elk Cervus canadensis nelsoni act as hosts for Brucella abortus. The presence of B. abortus within wildlife populations is an important conservation issue because of the risk of brucellosis transmission from wildlife to cattle. 2. We investigated conditions facilitating contact between bison (40-60% seroprevalence) and elk on a shared winter range in the Madison headwaters area of Yellowstone National Park. We evaluated the effects of snow pack, season, elk and bison population sizes, and wolf Canis lupus predation risk on the degree of spatial overlap between bison and elk from 1991 to 2006. 3. Sixty-eight per cent of 10 093 independent elk observations occurred within the known bison wintering range, 29% occurred with...
The primary goal was to address several questions with regard to how soil seed banks change in a successional series. How does the composition of the viable seed bank change, and how does the relationship of the soil seed bank and vegetation change with succession? Can the seed bank be regarded as a potential as a source of seeds for wetland restoration? We collected soil seed bank samples and sampled the vegetation in four different successional stages and used the NMDS (nonmetric multidimensional scaling) to evaluate the relationship of species composition between the seed banks and vegetation. The difference of seed density and species richness in different habitats and soil depths also was compared. Viable seeds of half (37) the species in the early-successional stage were found in all...
The Humane metropolis is a rubric to summarize and promote environmental and social quality in contemporary urban mosaics. Because cities, suburbs, and exurbs, as spatially extensive and connected socio-ecological systems, exhibit many negative features, the humane metropolis identifies a strategy to combat the ills and instill more positive and sustainable features and processes in urban systems. Because the humane metropolis as a program has arisen primarily from social motivations, there is the opportunity to articulate more explicitly the role that science can play in addressing the humane metropolis program and evaluating its success. A humane metropolis can be summarized as one that 1) protects and restores ecological services in cities and suburbs, 2) promotes physical and mental he...
Recognizing that a high percentage of transmission-line faults are single-phase to earth and temporary in nature, provides the impetus for considering single-pole switching as a means to enhance the reliability of EHV transmission systems. The effectiveness of single-pole switching schemes is largely determined by the speed with which the secondary arcs extinguish, and hence allow system restoration. Simulation techniques that enable better prediction of the faulted-system response are of obvious importance to the design and assessment of the various single-pole switching scheme applications. In this thesis, digital methods are developed to enable the faulted response of EHV systems to be simulated for a variety of different single-pole switching schemes. These include conventional single-pole switching, the hybrid method of autoreclosure, the neutral switched reactor, and the High Speed Grounding Switch implementations. The work is of importance to system ...
Abstract Background: Premature ovarian failure is diagnosed with a picture of amenorrhea, elevated follicle-stimulating hormone (FSH), and age under 40 years. Twenty percent (20%) of patients with premature ovarian failure have a concomitant autoimmune disease. Cases of premature ovarian failure associated with Sj?gren syndrome have been reported in the literature. Patient and method: We report a case of a 42-year-old white woman with Sj?gren syndrome and premature ovarian failure who underwent a reversal of her premature ovarian failure and restoration of normal menses using an elimination diet protocol. The patient was diagnosed with her rheumatological condition in 2005 and started on disease-modifying antirheumatoid drugs, which were taken intermittently due to a concern over medicatio...
On ships, tankers and similar vessels structural defects such as cracks and corrosion damage are typically repaired by welding. However, welding is unwanted hotwork on floating offshore units (FOUs) such as floating, production, storage and offloading (FPSO) and floating, storage and offloading (FSO) vessels because it requires shutdown of parts of the vessel thus resulting in expensive production delays. Bonded fibre composite material patch repairs can be used as an alternative to overcome the hazards of hotwork associated with welding. The patches are bonded over the defect and the integrity of the original structure is hence restored. The patch repair technology can also be utilised to provide upgrades, such as life extensions and higher design requirements. A recommended practice (RP)...
Bank sediments along a 40km reach of the South River, downstream of Waynesboro, VA, store mercury from historical contamination as a result of textile manufacturing. Knowledge of the rate at which contaminated sediment is released to the stream channel through bank erosion is required to implement restoration programs designed, for example, to minimize its ecological impact and to reduce risk to human health. Digitized stream channel boundaries based on visual interpretations of georeferenced aerial imagery from 1937 and 2005 were compared to calculate a minimum estimate of the total area of bank sediment eroded between Waynesboro and Port Republic, Virginia. Estimates of riverbank height were extracted from aerial LIDAR data, allowing areal estimates of bank retreat to be converted to vol...
The following method is proposed as a supplement to main patent 2419107, which deals with the filling of tubular plates surrounding the lead cores: the flat materials which are used to produce the jacket tubes are prepared before forming into jacket tubes by a film producing aqueous carboxy-methyl cellulose solution closing the pores. The preparation can be done by coating the flat material with a soluble foil. After pressing the paste in, the tubular plates are dried and after cooling are dipped into sulphuric acid with a specific gravity of 1.24 g/cm/sup 3/. The carboxy-methyl cellulose is dissolved and the permeability of the tube walls for electrolyte is restored after only 15 minutes.
Two plastic wastes (polyolefin-enriched and multicomponent), two lube oils (paraffinic and synthetic) and one coal-tar were assessed as individual and combined additives to coal blends for the production of blast furnace coke. The effects of adding 2wt.% of these additives or their mixtures (50:50 w/w) on the coking capacity of coal, coking pressure and coke quality parameters were investigated. It was found that the two plastic wastes reduce fluidity, whereas the addition of oils and tar helps to partially restore the fluidity of the coal-plastic blend. From the co-carbonization of the coking blend with the different wastes in a movable wall oven of over 15kg capacity, it was deduced that polyolefins have a detrimental effect on coking pressure. The addition of oils and tar to the coal-pl...
The 1993 Petroleum Hydrocarbons Conference was comprised of 3 days of technical presentations within the following topic areas: pollution prevention and cost control; development of remediation levels; free-phase and dissolved hydrocarbon contamination management; investigation and analysis of petroleum hydrocarbons; applications of computer modeling for remediation; design and implementation of bioventing; design and implementation of air sparging; soil vapor extraction as a remediation technique; and ground water remediation using natural bacteria. In addition, more than 100 leading companies in the ground water and petroleum industries participated in the Conference Exposition in which a variety of equipment and services for preventing, detecting and remediating ground water contaminated by petroleum hydrocarbons and other organic chemicals was showcased. Individual papers have been processed separately for inclusion in the appropriate data bases.
A wide variety of phytochemicals present in our diet, including fruits, vegetables, and spices, have been shown to possess a broad range of health-beneficial properties. The cytoprotective and restorative effects of dietary phytochemicals are likely to result from the modulation of several distinct cellular signal transduction pathways. Many dietary phytochemicals that are synthesized as secondary metabolites function as toxins, that is, -phytoalexins,- and hence protect plants against insects and other damaging organisms and stresses. However, at the relatively low doses consumed by humans and other mammals, these same toxic plant-derived chemicals, as mild stressors, activate adaptive cellular response signaling, conferring stress resistance and other health benefits. This phenomenon has...
(TSM-TTP)(I3)5/3 is a 1/6 -filled one-dimensional system composed of an extended donor molecule which has two tetrathiafulvalene (TTF) units in a molecule, where TSM-TTP is 2,5-bis[4,5-bis(methylseleno)-1,3-dithiol-2-ylidene]-1,3,4,6-tetrathiapentalene. Nonlinear conductivity is observed in the insulating state below 20K , and the metallic state is restored above a very small threshold electric field of 0.3V/cm at 4.2K . The extremely sensitive nonlinearity is ascribed to the inhomogeneous insulating state generated by the weak and disordered anion potentials on the otherwise highly conducting intramolecular charge order state in the double-TTF molecule.
Multiple Reggeon exchange supplies subleading logarithms that may be used to restore unitarity to the Low-Nussinov Pomeron, provided it can be proven that the sum of Feynman diagrams to all orders gives rise to such multiple Regge exchanges. This question cannot be easily tackled in the usual way except for very low-order diagrams, on account of delicate cancellations present in the sum which necessitate individual Feynman diagrams to be computed to subleading orders. Moreover, it is not clear that sums of high-order Feynman diagrams with complicated crisscrossing of lines can lead to factorization implied by the multi-Regge scenario. Both of these difficulties can be overcome by using the recently developed non-Abelian cut diagrams. We are then able to show that the sum of s-channel-ladder diagrams to all orders does lead to such multiple Reggeon exchanges. copyright 1997 The American Physical Society.
Many existing agents for diabetes therapy are unable to restore or maintain normal glucose homeostasis or prevent the eventual emergence of hyperglycemia-related complication. Therefore, agents based on novel mechanisms are sought to complement and extend the current therapeutic approaches. Based on the initial paper research, we focused on active STAT3 as an attractive pharmacological target for type 2 diabetes. The subsequent text mining with a unique query to identify suppressors but not activators of STAT3 revealed the ERK2/STAT3 pathway as a novel diabetes target. The description of ERK2 inhibitors as diabetes target had not been found in our text mining research at present. The mechanism-based peptide inhibitor for ERK2 was identified using the knowledge of the KIM sequence, which ha...
Objectives: The aim of this study was to evaluate the in vitro behaviour of all-ceramic zirconia molar crowns in regard to different core designs and marginal fit. Methods: Identically shaped methacrylate molars were prepared according to the ceramic restoration directives resulting in a 1-mm deep circular shoulder preparation. They were embedded in polymethylmethacrylate resin after covering their roots with a polyether layer to simulate periodontal mobility. The crown cores were made of yttria-stabilized zirconia veneered with a corresponding veneering ceramic. The crowns were divided into 5 groups (n=8) which differed in core design and cement gap thickness: #1: simple core, 40mm cement; #2: core with minimal occlusal support, 40mm cement; #3: core with optimized cusp support, 40mm ceme...
It has recently been shown that the superconducting properties of Nb-base A-15 compounds, A_3B, are severely degraded when exposed to high-energy (E>1 MeV) neutron irradiation at ambient reactor temperatures. In each case, superconducting transition temperatures, Tsub(c), and the Bragg Williams order parameters, S, were observed to decrease steadily with irradiations in excess of 10"1"8 nvt. During irradiation the A-15 structure is retained and subsequent isothermal annealing restores almost completely the compound's original Tsub(c) value. In this letter a correlation between B atom diameter and the recovery rates of Tsub(c) for the irradiated materials Nb_3Ge, Nb_3Ga, Nb_3Al and Nb_3Sn is reported. (Auth.).
A reduction of the mass of the \\eta'(958) meson may indicate the restoration of the UA(1) symmetry in a hot and dense hadronic matter, corresponding to the return of the 9th, "prodigal" Goldstone boson. We report on an analysis of a combined PHENIX and STAR data set on the intercept parameter of the two-pion Bose-Einstein correlation functions, as measuremed in \\sqrt{s_NN} = 200 GeV Au+Au collisions at RHIC. To describe this combined PHENIX and STAR dataset, an in-medium \\eta' mass reduction of at least 200 MeV is needed, at the 99.9 % confidence level in a broad model class of resonance multiplicities. Energy, system size and centrality dependence of the observed effect is also discussed.
Objective.The interest of dental research in metal-free restorations has been rising in the last 20 years following the introduction of innovative all-ceramic materials in the daily practice. In particular, high strength ceramics and related CAD/CAM techniques have widely increased the clinical indications of metal-free prostheses, showing more favourable mechanical characteristics compared to the early ceramic materials.The purpose of the present paper is providing a brief review on the all-ceramic dental materials, evaluating pros and cons in the light of the most recent scientific results and of the authors? clinical experience.Materials. A structured review of the literature was given on the basis of medical and engineering papers published in the last decades on the use of dental cera...
The foundation conducts an environmental monitoring and surveillance program over an area covering much of the upper Snake River Plain and provide environmental education and support services related to INEL natural resource issues. Also, the foundation, with its university affiliates, conducts ecological and radioecological research on the Idaho National Environmental Research Park. This research benefits major DOE-ID programs including waste management, environmental restoration, spent nuclear fuels, and land management issues. Major accomplishments during CY1995 can be divided into five categories: environmental surveillance program, environmental education, environmental services and support, ecological risk assessment, and research benefitting the DOE-ID mission.
The research and development of a new type of high damping rubber damper for high rise buildings/structures to mitigate earthquake or wind-induced structural response is described in this paper. The static tests were carried out to investigate restoring force characteristics using scale model of high damping rubber damper. The repetitive tests and the temperature dependency tests were carried out to investigate variance of performance of energy absorption. It is confirmed that the damping force characteristics of the damper can be considered as that of linear viscous damping and the damper sufficiently dissipates energy for vibrations of mm order to that of generating 200% shear strain. The design methods, based on assuming linear viscous damping for the damper, has been developed. The designed values such as stiffness and damping coefficient of the damper agree well with the experimental results. (author)
Statement of problem Titanium is the most biocompatible metal used for dental casting; however, there is concern about its marginal accuracy after porcelain application since this aspect has direct influence on marginal fit. Purpose The purpose of this study was to determine the effect that metal selection and the porcelain firing procedure have on the marginal accuracy of metal ceramic prostheses. Material and methods Cast CP Ti, milled CP Ti, cast Ti-6Al-7Nb, and cast Ni-Cr copings (n=5) were fired with compatible porcelains (Triceram for titanium-based metals and VITA VMK 95 for Ni-Cr alloy). The Ni-Cr alloy fired with its porcelain served as the control. Photographs of metal copings placed on a master die were made. Marginal discrepancy was determined on the photographs using an image ...
ABSTRACT Purpose: The aim of this two-center study was to evaluate screw-type titanium implants with a chemically modified, sandblasted and acid-etched surface when placed in the posterior maxilla or mandible, and loaded 21 days after placement. Material and Methods: All 56 patients met strict inclusion criteria and provided informed consent. Each patient displayed either a single-tooth gap, an extended edentulous space, or a distal extension situation in the posterior mandible or maxilla. Eighty-nine dental implants (SLActive, Institut Straumann AG, Basel, Switzerland) were inserted according to an established nonsubmerged protocol and underwent undisturbed healing for a period of 21 days. Where appropriate, the implants were loaded after 21 days of healing with provisional restorations i...
Thinning and burning forests established on revegetated mine pits in jarrah (Eucalyptus marginata) forests of south-west Australia is being considered as a management option to accelerate succession in sites with excessive tree densities. To assess the impact of thinning and burning on reptiles and small mammals, we installed trapping grids in eight thinned and burned sites, each paired with untreated controls. Of the eight pairs, four were in rehabilitated sites (planted with nonlocal species) and four were in restored sites (seeded with local species). Thinning and burning had no significant impact on the small mammal community, although Cercatetus concinnus was more abundant in rehabilitated sites. In contrast, thinning and burning significantly increased reptile abundance and species r...
We investigate the effect of the intrinsic spin of a fundamental spinor field on the surrounding spacetime geometry. We show that despite the lack of a rotating stress-energy source (and despite claims to the contrary) the intrinsic spin of a spin-half fermion gives rise to a frame-dragging effect analogous to that of orbital angular momentum, even in Einstein-Hilbert gravity where torsion is constrained to be zero. This resolves a paradox regarding the counter-force needed to restore Newton's third law in the well known spin-orbit interaction. In addition, the frame-dragging effect gives rise to a {\\it long-range} gravitationally mediated spin-spin dipole interaction coupling the {\\it internal} spins of two sources. We argue that despite the weakness of the interaction, the spin-spin interaction will dominate over the ordinary inverse square Newtonian interaction in any process of sufficiently high-energy for quantum field theoretical effects to be ...
About every 12 years, asphalt roads must be reworked, and this is usually done by placing thick layers (hot-mix overlays) of new material on top of failed material, resulting in considerable waste of material and use of new asphalt binder. A good recycling agent is needed, not only to reduce the viscosity of the aged material but also to restore compatibility. Objective is to establish the technical feasibility (Phase I) of determining the specifications and operating parameters for producing high quality recycling agents which will allow most/all the old asphalt-based road material to be recycled. It is expected that supercritical fractionation can be used. The advanced road aging simulation procedure will be used to study aging of blends of old asphalt and recycling agents.
A research was started aiming at evaluating the possible use of natural zeolites as exchange conditioners to improve and make durable the soil resilience against the adverse effects of the use of anomalous waters for irrigation purposes. This paper deals with a preliminary investigation on the comparative resilience of an Entisol with poor exchange properties and of a Neapolitan yellow tuff (NYT) sample against the adverse features of a dirty municipal sewage (DSW). Results showed that NYT treatment largely and significantly improved the poor soil exchange activity. In particular. NYT exchange sites selectively took up ammonium from DSW. As a consequence, ammonium was trapped, then protected against losses in the environment and, concurrently, exchangeable cations, such as K and Ca, were made free as plant nutrients. The results highlight the possible positive role of zeolitized tuff in restoring and sustaining soil resilience.
Statement of problem. The popularity of base metal alloys has considerably increased in recent years because of their superior mechanical properties as well as the high cost of noble alloys. However, there is disagreement about their effect on the opaque porcelain color and the color differences among base metal alloys. Purpose. The purpose of this in vitro study was to determine and compare the influence of various commercially available base metal alloys (excluding titanium-based systems) on the resulting color of opaque porcelain with the use of a colorimetric device. Material and methods. Fourteen different types of Ni-Cr and 3 different types of Co-Cr porcelain bonding alloys were selected with a Au-Pd alloy (V-Delta SF) as the control group for colorimetric measurements and determina...
Statement of problem Even though metal ceramic restorations (MCRs) are widely used by clinicians, the influence of the metal on the color of overlaying porcelain is unknown. Purpose The purpose of this study was to analyze the color alterations of different types of metal ceramic alloys during several stages of metal surface preparation and to determine the effect of those changes on the resulting color of opaque porcelain (OP). Material and Methods Seven different types of alloys (3 base metal, 3 noble, and 1 high noble) were used to prepare disk-shaped specimens (1 mm x 10 mm, n=3), followed by OP application (0.1 mm). Lab values of specimens were recorded after different stages of metal surface preparation (ingot, after casting, after oxidation, and after the OP application) in addition...
Changes in the properties of solonetzic soil associations (chestnut solonetzic soils and chestnut solonetzes) in the dry steppe after their reclamation have been studied for 30 years. The reclamation included the deep three-tier plowing and the approach of rotary tillage. A single rotary tillage operation resulted in the formation of fine aggregates of equal sizes in the plow layer; any morphological features of the restoration of solonetzic pedogenesis are absent. The atmospheric moisture easily penetrates into the soil, and soluble salts are leached off to a great depth. In 30 years since the soil amelioration with the use of a PMS-70 rotary tiller, the humus content has increased up to 3.3% in the upper 20-cm-thick layer and up to 2.4% in the layer of 20?40 cm. The content of adsorbed N...
An extensive analysis of the 1/N expansion of O(N)-symmetric lambdaphi"4 theory in four dimensions shows it to be a consistent approximation method. It is confirmed that the ground state of the theory is O(N(-symmetric, and that spontaneous symmetry breaking is not possible in the large-N limit. The Green's functions are free of tachyons if constructed relative to this ground state. A natural upper bound is derived for the parameters of the theory to ensure the existence of a ground state. In the strong-coupling domain there exist a bound state and a resonance in the identity representation of the O(N) group, which disappear in the weak-coupling regime. It is shown that, to leading order in N, a zero-mass interacting ''charged'' boson cannot be sustained in this theory. If the boson mass goes to zero, the model becomes a free-field theory.
This contribution reviews a selection of findings on atomic density functions and discusses ways for reading chemical information from them. First an expression for the density function for atoms in the multi-configuration Hartree--Fock scheme is established. The spherical harmonic content of the density function and ways to restore the spherical symmetry in a general open-shell case are treated. The evaluation of the density function is illustrated in a few examples. In the second part of the paper, atomic density functions are analyzed using quantum similarity measures. The comparison of atomic density functions is shown to be useful to obtain physical and chemical information. Finally, concepts from information theory are introduced and adopted for the comparison of density functions. In particular, based on the Kullback--Leibler form, a functional is constructed that reveals the periodicity in Mendeleev's table. Finally a quantum similarity measure is ...
Mentougou District acts as a crucial component in the ecological buffer in western Beijing mountainous areas, Beijing, China. Using two Landsat MSS/TM images acquired on July 14, 1979 and July 23, 2005, the vegetation coverage of Mentougou District was calculated based on normalized difference vegetation index and spectral mixture analysis (NDVI-SMA) model. Its temporal and spatial changes were analyzed according to digital elevation model (DEM) image, social and economic data. The results showed that the vegetation coverage decreased from 76.4% in 1979 to 72.7% in 2005. Vegetation degradation was probably the result of human disturbance, such as outspreading of resident areas, and coal and stone mining activities, while vegetation restoration might be contributed by the combined effects o...
Alkanol-amine is used for removing hydrogen sulfide and carbon dioxide from the gas stream. Contaminated amine is the amine which is contaminated by hydrocarbon, organic acid or iron sulfide, etc.. In addition, in the case when an antifoaming agent is excessively added to it or when it is decomposed chemically or thermally, it is considered that it is contaminated. When an amine solution becomes contaminated, several problems concerning operation control occur which would influence the effect of the amine treatment in consequence. By using activated charcoal, it is possible to decrease the additional amount of the antifoaming agent or corrosion inhibitor. This is because activated charcoal removes the decomposed product which causes the foaming phenomenon. In order to derive economical profit sufficiently, an activated charcoal system properly designed is necessary. In this article, the CALGON CLEANAMINE SYSTEM of Calgon Co. is introduced which restores the effect ...
Mung bean seedlings inoculated with Enterobacter asburiae PSI3, a gluconic acid-producing rhizosphere isolate, enhanced plant growth in the presence of phytotoxic levels of Cd2+ in gnotobiotic pot experiments as compared to the uninoculated Cd-treated plants. Addition of organic acids to Cd-stressed seedlings promoted root elongation. Hematoxylin competition assays showed that organic acids could displace Cd2+ from the Cd2+: hematoxylin complex in the same order of effectiveness as was found for restoration of root net elongation viz. oxalate?>?malate?>?succinate while gluconate was effective at higher concentrations. Root associated Cd2+, assessed by hematoxylin staining of roots was found to be reduced when roots were treated with organic acid. Cd stress increased antioxidant enzymes suc...
Viral infections are still common causes of morbidity and mortality in immunosuppressed patients after allogeneic hematopoietic stem cell transplantation. Infections caused by virus such as cytomegalovirus, adenovirus and Epstein-Barr virus are well-known. In addition, several other viruses such as polyomavirus and human herpesvirus 6 have been recently reported to be causes of significant complications. As the delay in recovery of virus-specific cellular immune response after transplant is associated with viral reactivation and viral disease, adoptive immunotherapy to restore virus-specific cellular immunity is an attractive option. Recent clinical trials showed the safety and effectiveness of adoptive immunotherapy against viral diseases. In this review, we summarize the current status o...
Biostimulation by nutrient application is a viable technology for restoring oil-contaminated beaches. Maximizing the nutrient residence time is key for achieving a rapid cost-effective cleanup. We considered the nutrient injection strategy through a perforated pipe at the high tide line and we simulated numerically beach hydraulics, which allowed us to estimate the optimal injection flow rate of nutrient solution. Our results indicate that the optimal application is one that starts following the falling high tide and lasts for half tidal cycle. The saturated wet-front of the nutrient solution on the beach surface would move seaward with the same speed of the falling tide keeping a constant distance with the tide line. The numerical results were generalized to beaches of wide ranges of hydr...
The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically. (author).
DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of DFNA5 in a large percentage of gastric, colorectal and breast tumors and p53-dependent transcriptional activity have been reported, concluding that DFNA5 acts as a tumor suppressor gene in different frequent types of cancer. Despite these data, the molecular function of DFNA5 has not been investigated properly. Previous transfection studies with mutant DFNA5 in yeast and in mammalian cells showed a toxic effect of the mutant protein, which was not seen after transfection ...
The Na+-driven bacterial flagellar motor is a molecular machine powered by an electrochemical potential gradient of sodium ions across the cytoplasmic membrane. The marine bacterium Vibrio alginolyticus has a single polar flagellum that enables it to swim in liquid. The flagellar motor contains a basal body and a stator complexes, which are composed of several proteins. PomA, PomB, MotX, and MotY are thought to be essential components of the stator that are required to generate the torque of the rotation. Several mutations have been investigated to understand the characteristics and function of the ion channel in the stator and the mechanism of its assembly around the rotor to complete the motor. In this review, we summarize recent results of the Na+-driven motor in the polar flagellum of ...
A better understanding of the immune processes in the pathogenesis and progression of prostate cancer (CaP) may point the way towards improved treatment modalities. The challenge is to amplify immune responses to combat tumour escape mechanisms. Infection and inflammation may have a role in prostate carcinogenesis, including the newly discovered xenotropic murine leukaemia virus (XMRV). These inflammatory states damage defence mechanisms and induce a high proliferative state favouring further mutation and impaired immune surveillance. With this knowledge we are able to explore the use of immunotherapy to rejuvenate the immune system in combating CaP. Recently Sipuleucel-T, an immunotherapeutic agent for metastatic androgen independent CaP, has resulted in improved survival and might be the...
More and more reforms in public administrations are being conducted that are based on the principles and instruments of ''new public management''. They have set off protest and collective actions by several professional groups in various sectors (health, education, justice, social work, research...), whence questions about the future of professional groups in public services, in particular about their autonomy, which these reforms threaten. The opposition between this new public management and certain professional groups, is not the final explanation to draw from an analysis of this situation. Should these changes be seen as the decline of professional groups and of their autonomy, as a mutation of professional models, an overhaul of professionalism, etc.? These questions, which current ev...
Summary CAG trinucleotide repeat length in the nuclear polymerase gamma gene (POLg) has been shown to be associated with men with reduced fertility. The present study investigated the frequency of CAG repeat length genotypes and three exonuclease motifs of the POLg in relation to the frequency of mitochondrial nucleotide substitutions. DNA from semen samples of 93 normozoospermic men and 192 non-normozoospermic men was isolated and the specific regions of the genes were amplified by polymerase chain reactions (PCR) and sequenced to identify mutations. The genotypic frequencies of pooled POLg CAG repeat lengths, =10/!=10 heterozygotes and !=10/!=10 homozygotes, were significantly different between normozoospermic and non-normozoospermic men (p p POLg genotype. Of the 17 men with non-synonym...
Carotenoids are highly beneficial for human nutrition and health because they provide essential nutrients and important antioxidants in our diets. However, many food crops, especially the major staple crops contain only trace to low amounts of carotenoids. Although significant progress has been made in developing food crops rich in carotenoids by altering the expression of carotenoid biosynthetic genes, in many cases it has proved to be difficult to reach the desired levels of carotenoid enrichment. The recent identification and characterization of a novel gene mutation in cauliflower reveals that creating a metabolic sink to sequester carotenoids is an important mechanism to control carotenoid accumulation in plants. The successful demonstration of increased carotenoid accumulation in ass...
The green fluorescent protein (GFP) asFP499 from Anemonia sulcata is a distant homologue of the GFP from Aequorea victoria. We cloned the asFP499 gene into a mammalian expression vector and showed that this protein was expressed in the human lymphoblast cell line Ramos RA1 and in the embryonic kidney 293T cell line (HEK 293T). In HEK 293T cells, asFP499 was localized mainly in the cytoplasm, suggesting that the protein was excluded from the nucleus. We identified _1_9_4LRMEKLNI_2_0_1 as a candidate nuclear export signal in asFP499 and mutated the isoleucine at position 201 to an alanine. Unlike the wildtype form, the mutant protein was distributed throughout the cytoplasm and nucleus. This is First report of a GFP that contains a functional NES.
Summaries are included of research contracts which expired prior to Dec. 31, 1960. The contracts were concerned with investigations of: electrophysiological responses of biological systems in nerve cells to irradiation with small doses of ionizing radiations; the mode of the protective action of certain sulfhydryl compounds against radiation effects on the synthesis of deoxyribonucleic acid, using tritium-labeled thymidine; development of a bubble chamber method of monitoring and dosimetry for Low fast neutron fluxes; effects of incorporated radioisotopes on the stability of genetic materials; interrelation of root and leaf absorption of radioisotopes in herbaceous plants; uptake of radioactive wastes by lowland rice from soils contaminated by irrigation water, and decontamination of the rice; and comparison between mutation rates induced by acute and chronic gamma irradiations. (B.O.G.)
Mutations in sclerostin function or expression cause sclerosing bone dysplasias, involving decreased antagonism of Wnt/Lrp5 signaling. Conversely, deletion of the VHL tumor suppressor in osteoblasts, which stabilize HIF-a isoforms and thereby enables HIF-a/b-driven gene transcription, increases bone mineral content and cross-sectional area compared to wild-type controls. We examined the influence of cellular hypoxia (1% oxygen) upon sclerostin expression and canonical Wnt signaling. Osteoblasts and osteocytes cultured under hypoxia revealed decreased sclerostin transcript and protein, and increased expression and nuclear localization of activated b-catenin. Similarly, both hypoxia and the hypoxia mimetic DFO increased b-catenin gene reporter activity. Hypoxia and its mimetics increased exp...
This study assessed the impact of the results of genetic testing for hereditary cancer from a multifactorial health psychology perspective, considering that emotional expression plays a key role in psychological adjustment. Measures of dispositional and transactional coping strategies, anxiety and alexithymia were filled out by 77 participants in a longitudinal study design. Statistical analyses were performed using general linear models and partial least squares path modelling, low-constraint methods that are particularly useful in the behavioural sciences. While anxiety levels prior to the result announcement were predictive of the distress experienced by noncarriers, considerable variability was observed for mutation carriers. Some subjects who had lower anxiety levels before the test d...
Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...
PurposeAlthough the safety and feasibility of partial adrenalectomy in patients with von Hippel-Lindau syndrome have been established, long-term outcomes have not been examined. In this study we evaluate the recurrence and functional outcomes in a von Hippel-Lindau syndrome cohort treated for pheochromocytoma with partial adrenalectomy with a followup of at least 5 years. Materials and MethodsWe reviewed the records of patients with von Hippel-Lindau syndrome treated with partial adrenalectomy for pheochromocytoma at the National Cancer Institute. Demographic, germline mutation status, surgical indication, oncologic and functional outcome data were collected. Local recurrence was defined as radiographic evidence of recurrent tumor on the ipsilateral side of partial adrenalectomy. Patients ...
The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically.
Please cite this paper as: Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study. Experimental Dermatology 2008; 17: 203-207. Abstract: Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene. A feature of this mouse model is ectopic mineralization of connective tissue capsule surrounding the bulb of vibrissae. This study was designed to investigate the effect of dietary sevelamer hydrochloride (Renagel), a phosphate binder, and specific mineral modifications on ectopic mineralization of connective tissue in Abcc6-/- mice. Three groups were fed a specific di...
Abstract Background- Cyclosporine is used for treatment of transplanted patients and for immune-mediated diseases. Cyclosporine is known to cause a combination of metabolic side effects including hypertension, hyperkalemia, hypercalciuria and hypomagnesemia. These side effects except for hypomagnesemia are the cardinal features of familial hyperkalemia and hypertension (FHHt), also called pseudohypoaldosteronism type II (PHA II). FHHt is caused by mutations in the kinases WNK1 and WNK4 resulting in an increase in renal Na-Cl cotransporter (NCC) apical distribution and function. Therefore, we studied whether cyclosporine-s metabolic side effects are mediated by WNK4 and NCC. Design- Sprague-Dawley (SD) rats were treated by cyclosporine 25-mg-kg-1 subcutaneously for 14-days. Blood pressure, ...
Data are presented to support the hypothesis that the initial step in the morphologic transformation of irradiated rodent (BALB/3T3) cells is a frequent cellular event involving a large fraction of the irradiated population. This process appears to involve DNA damage, but not to represent a targeted mutation in specific structural gene(s). Morphologic transformation and immortalization appear to be distinct steps in the overall process of transformation. In contradistinction to rodent cells, immortalization is a very rare event in human diploid cells which is induced at extremely low frequencies. The hypothesis is presented that immortality develops among clones of cells bearing stable chromosomal rearrangements which emerge during the proliferation of a population of radiation damaged cells.
The authors have identified a protein present only in erythroid cells that binds to two adjacent sites within an enhancer region of the chicken {beta}-globin locus. Mutation of the sites, so that binding by the factor can no longer be detected in vitro, leads to a loss of enhancing ability, assayed by transient expression in primary erythrocytes. Binding sites for the erythroid-specific factor (Eryf1) are found within regulatory regions for all chicken globin genes. A strong Eryf1 binding site is also present within the enhancer of at least one human globin gene, and proteins from human erythroid cells (but not HeLa cells) bind to both the chicken and the human sites.
Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune ...
Mutations or multiplications in a-synuclein gene cause familial forms of Parkinson disease or dementia with Lewy bodies (LB), and the deposition of wild-type a-synuclein as LB occurs as a hallmark lesion of these disorders, collectively referred to as synucleinopathies, implicating a-synuclein in the pathogenesis of synucleinopathy. To identify modifier genes of a-synuclein-induced neurotoxicity, we conducted an RNAi screen in transgenic C. elegans (Tg worms) that overexpress human a-synuclein in a pan-neuronal manner. To enhance the RNAi effect in neurons, we crossed a-synuclein Tg worms with an RNAi-enhanced mutant eri-1 strain. We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalit...
The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.
This Streamlined Approach for Environmental Restoration (SAFER) plan addresses closure for Corrective Action Unit (CAU) 118, Area 27 Super Kukla Facility, identified in the ''Federal Facility Agreement and Consent Order''. Corrective Action Unit 118 consists of one Corrective Action Site (CAS), 27-41-01, located in Area 27 of the Nevada Test Site. Corrective Action Site 27-41-01 consists of the following four structures: (1) Building 5400A, Reactor High Bay; (2) Building 5400, Reactor Building and access tunnel; (3) Building 5410, Mechanical Building; and (4) Wooden Shed, a.k.a. ''Brock House''. This plan provides the methodology for field activities needed to gather the necessary information for closing the CAS. There is sufficient information and process knowledge from historical documentation and site confirmation data collected in 2005 and 2006 to recommend closure of CAU 118 using the ...
Corrective Action Unit (CAU) No. 92, the Area 6 Decontamination Pond Facility (DPF), is an historic disposal unit located at the Nevada Test Site (NTS) in Nye County, Nevada (Figures 1 - 1, 1-2, and 1-3). The NTS is operated by the U.S. Department of Energy, Nevada Operations Office (DOE/NV), which has been required by the Nevada Division of Environmental Protection (NDEP) to characterize the DPF under the requirements of the Resource Conservation and Recovery Act (RCRA) Part A Permit (NDEP, 1995) for the NTS and Title 40 Code of Federal Regulations (CFR) Part 265 (1996c). The DPF is prioritized in the Federal Facility Agreement and Consent Order (FFACO, 1996) but is governed by the permit. The DPF was characterized through sampling events in 1994, 1996, and 1997. The results of these sampling events are contained in the Final Resource Conservation and Recovery Act Industrial Site Environmental Restoration Site Characterization Report, Area 6 Decontamination Pond ...
Aldosterone has been suggested to elicit vessel contraction via a nongenomic mechanism. We tested this proposal in microdissected, perfused rabbit renal afferent arterioles. Aldosterone had no effect on internal diameter in concentrations from 10(-10) to 10(-5) mol/L, but aldosterone abolished the ability of 100 mmol/L KCl to induce vascular contraction. The inhibitory effect of aldosterone was observed from 1 pmol/L. The inhibitory effect was significant after 5 minutes and maximal after 20 minutes and was fully reversible. Actinomycin D (10(-6) mol/L) prolonged the effect of aldosterone. The effect was abolished by the mineralocorticoid receptor antagonist spironolactone (10(-7) mol/L) but not by the glucocorticoid receptor antagonist mifepristone (10(-6) mol/L). The K+-mediated increase of intracellular calcium concentration in afferent arterioles was not affected by aldosterone. Mineralocorticoid receptor was detected by reverse transcription-polymerase chain reaction and ...
The national remediation program in Croatia consists of three stages: (1) identification and characterization of radioactively contaminated sites; (2) preparing activities for restoration; and (3) physical restoration at selected (high-prioritized) sites. The program is coordinated by the APO and, in the first stage, performed by both national research institutes of Ruder Boskovi and Institute for Medical Research and Occupational Health. The program supervisors are Ministry of Health, Ministry of Economy (Department of Energy) and State Administration for Environmental Protection. There were more than thirty sites suspected to be radioactively contaminated in Croatia. They were classified into four contamination type groups: (1) dumps containing contaminated coal slag and ash; (2) dumps containing contaminated phosphates and phospho-gypsum resulting from fertilizers industry; (3) geothermal springs and gas/oil wells; and (4) sites containing ...
The basic structure of the LANL Environmental Restoration (ER) Site Ranking System and its use are described in this document. A related document, Instructions for Generating Inputs for the LANL ER Site Ranking System, contains detailed descriptions of the methods by which necessary inputs for the system will be generated. LANL has long recognized the need to provide a consistent basis for comparing the risks and other adverse consequences associated with the various waste problems at the Lab. The LANL ER Site Ranking System is being developed to help address this need. The specific purpose of the system is to help improve, defend, and explain prioritization decisions at the Potential Release Site (PRS) and Operable Unit (OU) level. The precise relationship of the Site Ranking System to the planning and overall budget processes is yet to be determined, as the system is still evolving. Generally speaking, the Site Ranking System will be used as a decision aid. That ...
In abnormal conditions, the operator's ability to deal with a large volume of data, and initiate the most appropriate remedial action is a fundamental concern in the design of energy control centers. Once a severe disruption has occurred in the power network, a series of tasks are required before the operator can make any decisions. Many of these functions involve computational efforts, and require a long period of processing time. The application of a wrong set of information by the operator may result in a catastrophic recovery situation. Also, as the system becomes larger, the required time for these tasks grows significantly and the operator may have very little time to analyze the contingency and issue a proper decision. These facts have led to the conclusion that a computer driven decision making mechanism will help the operator perform duties with minimum flaws and maximum efficiency. The challenge in applying an expert system to a power network is to introduce ...
The objective of this investigation was to perform a preliminary evaluation of the utility of residual materials prepared from Green River Formation (western) and New Albany Shale (eastern) shale oils as recycling agents for aged asphalt pavement. Four petroleum asphalts were first aged by a thin-film accelerated-aging test, which simulates long service life of asphalt in pavement. The aged asphalts were mixed (recycled) with Green River Formation shale oil distillation residua to restore the original viscosities. Separately, for comparison, a commercial recycling agent was used to recycle the aged asphalts under the same circumstances. The recycled asphalts were reaged and the properties of both binder and asphalt-aggregate mixtures studied. Originally, the same study was intended for an eastern shale residua. However, the eastern shale oil distillation residua with the required flash point specification also had the properties of a viscosity builder; therefore, ...
The hypothesis that intracellular Ca/sup 2 +/ is an essential component of the intracellular mechanism of insulin action in the adipocyte was evaluated. Cells were loaded with the Ca/sup 2 +/ chelator quin-2, by preincubating them with quin-2 AM, the tetrakis(acetoxymethyl) ester of quin-2. Quin-2 loading inhibited insulin-stimulated glucose transport without affecting basal activity. The ability of insulin to stimulate glucose uptake in quin-2-loaded cells could be partially restored by preincubating cells with buffer supplemented with 1.2 mM CaCl/sub 2/ and the Ca/sup 2 +/ ionophore A23187. These conditions had no effect on basal activity and omission of CaCl/sub 2/ from the buffer prevented the restoration of insulin-stimulated glucose uptake by A23187. Quin-2 loading also inhibited insulin-stimulated glucose oxidation and the ability of insulin to inhibit cAMP-stimulated lipolysis without affecting their basal activities. Incubation of ...
The hypothesis that intracellular Ca"2"+ is an essential component of the intracellular mechanism of insulin action in the adipocyte was evaluated. Cells were loaded with the Ca"2"+ chelator quin-2, by preincubating them with quin-2 AM, the tetrakis(acetoxymethyl) ester of quin-2. Quin-2 loading inhibited insulin-stimulated glucose transport without affecting basal activity. The ability of insulin to stimulate glucose uptake in quin-2-loaded cells could be partially restored by preincubating cells with buffer supplemented with 1.2 mM CaCl_2 and the Ca"2"+ ionophore A23187. These conditions had no effect on basal activity and omission of CaCl_2 from the buffer prevented the restoration of insulin-stimulated glucose uptake by A23187. Quin-2 loading also inhibited insulin-stimulated glucose oxidation and the ability of insulin to inhibit cAMP-stimulated lipolysis without affecting their basal activities. Incubation of cells with 100 #mu#M quin-2 ...
The Integrated Status and Effectiveness Monitoring Program (ISEMP - BPA project No.2003-0017) has been created as a cost effective means of developing protocols and new technologies, novel indicators, sample designs, analytical, data management and communication tools and skills, and restoration experiments that support the development of a region-wide Research, Monitoring and Evaluation (RME) program to assess the status of anadromous salmonid populations, their tributary habitat and restoration and management actions. The most straightforward approach to developing a regional-scale monitoring and evaluation program would be to increase standardization among status and trend monitoring programs. However, the diversity of species and their habitat, as well as the overwhelming uncertainty surrounding indicators, metrics, and data interpretation methods, requires the testing of multiple approaches. Thus, the approach ISEMP has adopted is to ...
(1) Young chrysanthemums were planted after being irradiated at the time of shoot tip culture and the influence of irradiation was evaluated from the point of view of establishment of mutants. (2) Two cultivars, Kin-tenryu and Tenryu-no-asa were used in this experiment. The percentage of cultivars healthy enough to transplant on June 10, 1972 showed a decrease in proportion to the increase of dosage. Some plants of cultivar Kin-tenryu died after being transplanted. (3) Few plants of either cultivar could overwinter, and in particular no plant irradiated by gamma-rays of 20 kR. (4) Plant height showed a tendency of inhibition in both cultivars. (5) Three chlorophyll mutants showing chimera appeared. One of them was in the cultivar Tenryu-no-asa irradiated by 10 kR at 3 days after planting; two of them were in the cultivar Tenryu-no-asa irradiated by 10 kR at 5 days after planting. One mutant exhibiting malformation of entire leaves appeared in the cultivar Kin-tenryu irradiated by 20 kR ...
We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60 degrees C). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at high temperatures is desired to weaken or melt secondary structure motifs. To demonstrate the ability of Taq M1 for RNA detection of pathogens, we performed TaqMan probe-based ...
Humoral immune response to human epidermal growth factor receptor 2 (HER-2/neu or ErbB-2) has been detected in sera of breast cancer patients and shown to be an appropriate prognostic marker (Taylor et al., 2007). However, since Trastuzumab (Herceptin) is a widely used monoclonal antibody as cancer therapy agent for tumors over-expressing HER-2, there is a need for an efficient way to detect host-generated antibodies against HER-2 without the confounding effect of Herceptin. Here we describe a screening method developed to decipher between host antibodies against HER-2 and that of Herceptin. By producing a series of truncation mutants within the epitope of Herceptin, we were able to inhibit this binding. We demonstrated also that by a three amino acid substitution (PPF?SSS) we were able to abrogate Herceptin binding while generating a highly conserved HER-2 extracellular domain (ECD). By producing a stable cell line that expresses this mutated form of the human ...
Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s ...
Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed significant association ...
ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and ...
We have previously shown that budded viruses of Bombyx mori nucleopolyhedrovirus (BmNPV) enter the cell cytoplasm but do not migrate into the nuclei of non-permissive Sf9 cells that support a high titer of Autographa californica multicapsid nucleopolyhedrovirus (AcMNPV) multiplication. Here we show, using the syncytium formation assay, that low-pH-triggered membrane fusion of BmNPV GP64 protein (Bm-GP64) is significantly lower than that of AcMNPV GP64 protein (Ac-GP64). Mutational analyses of GP64 proteins revealed that a single amino acid substitution between Ac-GP64 H155 and Bm-GP64 Y153 can have significant positive or negative effects on membrane fusion activity. Studies using bacmid-based GP64 recombinant AcMNPV harboring point-mutated ac-gp64 and bm-gp64 genes showed that Ac-GP64 H155Y and Bm-GP64 Y153H substitutions decreased and increased, respectively, the multiplication and cell-to-cell spread of progeny viruses. These results ...
The spike (S) protein of severe acute respiratory syndrome coronavirus (SARS-CoV) has two major functions: interacting with the receptor to mediate virus entry and inducing protective immunity. Coincidently, the receptor-binding domain (RBD, residues 318-510) of SAR-CoV S protein is a major antigenic site to induce neutralizing antibodies. Here, we used RBD-Fc, a fusion protein containing the RBD and human IgG1 Fc, as a model in the studies and found that a single amino acid substitution in the RBD (R441A) could abolish the immunogenicity of RBD to induce neutralizing antibodies in immunized mice and rabbits. With a panel of anti-RBD mAbs as probes, we observed that R441A substitution was able to disrupt the majority of neutralizing epitopes in the RBD, suggesting that this residue is critical for the antigenic structure responsible for inducing protective immune responses. We also demonstrated that the RBD-Fc bearing R441A mutation could not bind to soluble and ...
Oxide superconducting thin films were irradiated with X-rays and ultra-violet (UV) light, and induced radiation effects on electrical and chemical properties were examined by transport measurement, X-ray diffraction analysis (XRD), diamagnetization measurement and X-ray photoemission spectroscopy (XPS). After irradiation for ErBa_2Cu_3O_x films with X-rays emitted from a Rh tube for 100 hours, superconductivity was remarkably damaged, destroying the zero-resistance state. The UV-light irradiation for Bi_2Sr_2CaCu_2O_x films was performed in He gas of about 500 Pa with a low pressure mercury lamp. The superconductivity was gradually degraded with the UV irradiation time up to 70 minutes. In both cases, adequate oxygen-annealing treatments restored superconductivity. The X-ray photoemission spectra showed that the mean Cu valence of the films was decreased approximately from +2 to +1 by the irradiation. From these results we can find that irradiation with the X-ray ...
Small angle neutron scattering (SANS) on the unilamellar vesicle populations (diameter 500 and 1000 angstrom) was used to characterize lipid vesicles from dimyristoylphosphatidylcholine (DMPC) at three phases (gel, ripple, and liquid). Parameters of vesicle populations and internal structure of the DMPC bilayer were characterized on the basis of the Separated Form Factor (SFF) model. Parameters of the internal bilayer structure (thickness of the membrane and the hydrophobic core, hydration, and surface area of lipid molecule) were determined on the basis of the Hydrophobic-Hydrophilic (HH) approximation of neutron scattering length density across the bilayer r(x) and of the Step Function (SF) approximation of r(x). It was demonstrated in frame of HH approximation that DMPC membrane thickness in liquid phase (T=30 degrees) depends on the membrane curvature. The dependence of the DMPC membrane thickness on temperature was restored from the SANS experiment.
A closed economic system was assumed for the Veneto Region (Italy) in order to define an appropriate input-output model and assess the future economic and environmental impacts of proposed actions for energy source development and economic growth. Present and forecasted energy demands (to the year 2000) were determined by energy source, e.g., natural gas, coal, petroleum and hydropower for the different consuming sectors - agriculture, transportation, industry, etc. Forecasts were made of the air pollution expected as a result of different types of energy and technology inputs for each sector. These considered planned retrofits towards clean combustion systems. Costs were estimated for the implementation of proposed pollution abatement measures, as well as, for the effects of energy use related environmental damage and measures to restore the environment. Some of the factors taken into account were: the regional impacts of the Italian National Energy Plan; the ...
A non-linear analysis of a Cerenkov maser is presented. The system consists of a ring configuration of a cylindrical waveguide filled with a dielectric material. A single transverse-magnetic mode is assumed to propagate in the system. A low-density pencil electron beam travels in part of the ring, confined by a strong axial magnetic field. Using the single-particle description for the beam and the wave equation for the field, we obtain a set of two coupled non-linear differential equations describing the slowly varying amplitude and phase of the electromagnetic mode. The gain per path is assumed to be small and the spatial growth of the field is neglected. The resulting time dependent amplitude includes the exponential gain of the linear stage and the saturation to its maximum value. The time dependent frequency is also calculated. The two equations are combined to a single Van Der Pol equation with a non-linear restoring force. This description demonstrates the ...
Triethanolamine (TEA) has been evaluated as an additive to a commercial electrolyte to enhance the properties of aluminum electrolytic capacitors. The results showed 1-3wt.% TEA additive can prevent the pH and conductivity of the electrolytes from decreasing for 5000h at 60{sup o}C. The anodic restoration ability of an anode aluminum film in the electrolyte with TEA additive showed more efficient than the electrolyte without TEA additive. Low temperature electric characteristics of capacitors showed that TEA additive can prevent the electrolyte inside capacitors from freezing and losing electric characteristics even at -40{sup o}C. Load life test of capacitors impregnated with electrolytes with or without TEA additive showed remarkable differences. The TEA additive promoted 105{sup o}C load life time from 3019h up to 5624h and form 2144h up to 3621h for 125{sup o}C load life time test. (author)
Application of greenwaste compost to brownfield land is increasingly common in soil and landscape restoration. Previous studies have demonstrated both beneficial and detrimental effects of this material on trace element mobility. A pot experiment with homogenised soil/compost investigated distribution and mobility of trace elements, two years after application of greenwaste compost mulch to shallow soils overlying a former alkali-works contaminated with Pb, Cu and As (#approx#900, 200 and 500 mg kg"-"1, respectively). Compost mulch increased organic carbon and Fe in soil pore water, which in turn increased As and Sb mobilization; this enhanced uptake by lettuce and sunflower. A very small proportion of the total soil trace element pool was in readily-exchangeable form (<0.01% As, <0.001% other trace elements), but the effect of compost on behaviour of metals was variable and ambiguous. It is concluded that greenwaste compost should be applied with caution to ...
The improvement of the ecological conditions at waste storing reservoirs is an important task of the restoration activity at Production Association (PA) ``Mayak`` (South Urals). The radionuclides mostly {sup 90}Sr, {sup 137}Cs, and chemical pollutants deposited in the reservoir water and in the bottom sediment are very dangerous sources for the contamination of Techa River below the reservoirs and the contamination of groundwater in the surrounding formations. The spreading of radioactive contaminants has both hydrogeological and the chemical features. The thermodynamic approach used to account for physical-chemical interactions between water and the bed rocks based on Gibbs free energy minimization of multicomponent system (H-O-Ca-Mg-K-Na-S-Cl-C-Sr) permitted the authors to calculate the corresponding ionic and complex species existing in the solutions, and to characterize the processes of precipitation and dissolution. The model takes into account the input and ...
Abstract Purpose: Long-term success of metal ceramic restorations depends on metal ceramic bond strength. The purpose of this study was to determine whether recasting of base-metal alloys has any effect on metal ceramic bond strength. Materials and Methods: Super Cast and Verabond base-metal alloys were used to cast 260 wax patterns. The alloy specimens were equally divided into five groups and cast as: group A 0.0%, B 25%, C 50%, D 75%, and E 100% once-cast alloy. Each group was divided into two subgroups: the first group was cast with Super Cast and the second with Verabond. In each subgroup half of the cast alloys were veneered with Vita VMK 68 and the others with Ceramco 3. Results: Recasting decreased bond strength (p < 0.006) when used for 50% once-cast alloy. Group E with 100% new S...
Elevated fatty acid levels have been thought to contribute to insulin resistance. Repression of the glucose transporter 4 (GLUT4) gene as well as impaired GLUT4 translocation may be a mediator for fatty acid-induced insulin resistance. This study was initiated to determine whether palmitate treatment repressed GLUT4 expression, whether glucose/fatty acid metabolism influenced palmitate-induced GLUT4 gene repression (PIGR), and whether attempts to prevent PIGR restored palmitate-induced impairment of glucose uptake (PIIGU) in C2 myotubes. Not only stimulators of fatty acid oxidation, such as bezafibrate, AICAR, and TOFA, but also TCA cycle substrates, such as pyruvate, leucine/glutamine, and ?-ketoisocaproate/monomethyl succinate, significantly prevented PIGR. In particular, supplementing with pyruvate through methyl pyruvate resulted in nearly complete prevention of PIIGU, whereas palmitate treatment reduced the intracellular pyruvate level. These results suggest ...
The effect of flame temperature on the Moza-Austin sticking test has been evaluated by increasing the adiabatic flame temperature used to melt the pellet and make it drop. It was found that the variation of apparent contact angle with substrate temperature, for an oxidized steel substrate, was almost independent of flame temperature over the range of 1750-2500 C. However, the strength of adhesion to the substrate increased with higher flame temperature at each substrate temperature. The adhesion force of a drop frozen on the substrate at constant temperature also increased with time up to about one h. This indicated that the adhesion was not caused solely by mechanical anchoring of solidified glass in the pores of the oxide layer. Reduction of the substrate temperature to lower temperatures after attachment of the drop caused lower strength of adhesion, but this was partially restored by raising the temperature. This also suggested a continuing solid-state ...
Electrochemical performance and structural properties of the high-voltage cathode material Li{sub 2}CoPO{sub 4}F have been investigated. The cyclic voltammetry and coulometry under potential step mode in the voltage range 3.0-5.1 V vs. Li revealed a structural transformation at potentials above 4.8 V. This transformation occurring upon Li-extraction appears to be irreversible: the subsequent Li-insertion does not result in restoration of the initial structure, but takes place within a new ''modified'' framework. According to the structure refinement this modification involves the mutual rotations of (CoO{sub 4}F{sub 2}) octahedra and (PO{sub 4}) tetrahedra accompanied by the considerable unit cell expansion which is expected to enhance the Li-transport upon subsequent cycling. The new framework demonstrates a reversible Li-insertion/extraction in a solid-solution regime with stabilized discharge capacity at around 60 mAh g{sup ...
An original device and a method of its application for restoring of the function of relatively incompetent valves (both patented) are elaborated. Application of the new device allows to lower the difficulty of surgical treatment, to decrease the duration of operation and post-operative period. The long-term results of six-year long experience of its application are presented. The patients examination after 2,5-3,0-year post-operation period shows perfect vein valve correction. A device for stone extraction from tubular organs (patented) fabricated with titanium nickelide superelastic alloy is presented. The new suggested design is free of the drawback inherent in the previous one. The working element of the device is formed as a truncated cone or a truncated cone coaxial with the cylinder (the previous design was formed as a full cone) that prevents overstraining and residual strain accumulation during the manipulation process. Since the first publication the ...
We hypothesized that I kappa B kinase (IKK)-mediated nuclear factor kappa B and forkhead BoxO3a phosphorylation will be associated with age-related endothelial dysfunction. Endothelium-dependent dilation and aortic protein expression/phosphorylation were determined in young and old male B6D2F1 mice and old mice treated with the IKK inhibitor, salicylate. IKK activation was greater in old mice and was associated with greater nitrotyrosine and cytokines. Endothelium-dependent dilation, nitric oxide (NO), and endothelial NO synthase phosphorylation were lower in old mice. Endothelium-dependent dilation and NO bioavailability were restored by a superoxide dismutase mimetic. Nuclear factor kappa B and forkhead BoxO3a phosphorylation were greater in old and were associated with increased express...
Abstract This research aimed to investigate coarse root systems of Jarrah (Eucalyptus marginata Donn ex Sm.) trees at a 13-year-old restored bauxite mine site in south-western Australia. Excavations in an area with small trees (low-quality site) revealed that deep ripping equipment failed to penetrate the cemented lateritic subsoil, restricting coarse roots (roots >5 mm in diameter) to the top 0.5 m of the soil profile, resulting in fewer (1,344 stems/ha) and smaller (mean height 4.5 m) Jarrah trees. An adjacent area within the same pit (high-quality site), with a stand density of 3,256 stems/ha and a mean height of 8.0 m, had a kaolinitic clay subsoil which coarse roots penetrated to the average ripping depth (1.5 m). Trees at the low-quality site did not penetrate the subsoil with their ...
Research performed at the Lawrence Livermore National Laboratory on the equilibrium and stability of a new class of ambient-temperature passive bearing systems is described. The basic concepts involved are: (1) Stability of the rotating system is only achieved in the rotating state. That is, disengaging mechanical systems are used to insure stable levitation at rest (when Earnshaw`s theorem applies). (2) Stable levitation by passive magnetic elements can be achieved if the vector sum of the force derivatives of the several elements of the system is net negative (i.e. restoring) for axial, transverse, and tilt-type perturbations from equilibrium. To satisfy the requirements of (2) using only permanent magnet elements we have employed periodic ``Halbach arrays.`` These interact with passive inductive loaded circuits and act as stabilizers, with the primary forces arising from axially symmetric permanent-magnet elements. Stabilizers and other elements needed to create ...
After the construction of its wastewater treatment plants, the City of Quebec began to implement overflow control in wet weather to ultimately meet the effluent discharge objectives, i.e. no more than two overflows per summer season in the St. Lawrence River and no more than four in the St-Charles River. After several years of studies to determine which management strategies would best suit the purpose, and to propose optimum solutions, a first project to implement optimal and predictive management in real time, called "Pilot", came to life in 1999. Construction in phases soon followed and the work was completed in the fall of 2009. As a result, requirements with regard to environmental rejects were met in two sectors, namely the St-Charles River and the Jacques-Cartier Beach, and aquatic recreational activities could resume. Meanwhile, the City also worked at giving back access to the water courses to the public by developing sites at the Jacques-Cartier Beach and in the Bay of ...
When a nuclear power station was installed on the Meuse in central Belgium, the impact of thermal, radioactive, and chemical waste on the water of the Neuse and on its biocenoses was studied. Three successive periods of development of the channel bed and the flood plain in Belgium have occurred, and their hydrological, physicochemical, and ecological consequences have been examined. Since the last century, the ecosystem of the Meuse has undergone, due to the increasing activity of man, modifications of increasing importance: marked reduction of the water flow, a drastic increase in the suspended material being transported, a degree of eutrophication of the water, and the disturbance of the original floral and faunal communities. The causes of this evolution of the Meuse can be itemized as different types of human interference in descending order of importance: (1) occupation of the catchment area; (2) encroachment on the flood plain; (3) encroachment on the channel bed; (4) destruction ...
The visual outcomes of Acanthamoeba keratitis, a rare cause of corneal infection, can be devastating. This paper reports two contact lens wearers with severe pain and photophobia who presented to the emergency room. Biomicroscopy revealed radial keratoneuritis in both individuals. Tissue culture on a nonnutrient agar plate with Escherichia coli overlay resulted in a heavy growth of Acanthamoeba. The inpatient treatment included 0.02% polyhexamethylene biguanide, chlorhexidine, neomycin/polymyxin B/bacitracin (Neosporin), and oral fluconazole, which successfully controlled the corneal infection and improvement in the best corrected visual acuity in both patients. Infection did not recur during the 12-month follow-up period. Acanthamoeba keratitis can present as radial keratoneuritis, mimicking other common corneal infections resulting in diagnostic and treatment delays. Early diagnosis and prudent treatment of Acanthamoeba keratitis are the keys to restoring vision ...
We study an exactly solvable model where an uniformly accelerated detector is linearly coupled to a massless scalar field initially in the Minkowski vacuum. Using the exact correlation functions we show that as soon as the coupling is switched on one can see information flowing from the detector to the field and propagating with the radiation into null infinity. By expressing the reduced density matrix of the detector in terms of the two-point functions, we calculate the purity function in the detector and study the evolution of quantum entanglement between the detector and the field. Only in the ultraweak coupling regime could some degree of recoherence in the detector appear at late times, but never in full restoration, as an earlier work seems to suggest. We explicitly show that under the most general conditions the detector never recovers its quantum coherence and the entanglement between the detector and the field remains large at late times. To the extent ...
The hydromechanical effect of hydroelectric stations on zooplankton is customarily regarded as a constantly acting and comparatively harmless factor, since its destruction is inevitable when water masses are passed through hydroelectric stations, but its capacity for restoration is high (i.e., destruction of the zooplankton of the forebay is compensated by its production in the after bay). It is not known how correct such an opinion is, or what is the true balance of losses and reproduction of zooplankton in the forebays and after bays of hydroelectric stations. However, hydroelectric plants of a new type, pumped-storage plants, have been constructed in recent years and others are planned for the Dnieper reservoirs. The operational principle and purpose of these plants is that they employ special vertical turbine-electric pumps that pump water at night from the reservoirs into pumped-storage facilities at high levels, and then release this water during daytime ...
This report presents the results of the preliminary assessment (PA) conducted by Argonne National Laboratory at the Georgia Army National Guard (GAARNG) facility near Hinesville, Georgia, known as the National Guard Training Center (NGTC). Preliminary assessments of federal facilities are being conducted to compile the information necessary for completing preremedial activities and to provide a priority basis for completing corrective actions (where necessary) in response to releases of hazardous substances. The principal objective of the PA is to characterize the site accurately and determine the need for further action by examining previous site activities, types and quantities of hazardous substances utilized, and potential pathways by which contamination could affect public health and the environment. The scope of this assessment is limited to the facilities and past activities contained within the NGTC. Preliminary assessment site score sheet information is also provided for the ...
Eight patients who had received megavoltage therapy for Cushings' disease 5-12 years previously have been reviewed. The long term response to this therapy was assessed with respect to efficacy of treatment in inducing continued remission and disturbance of hypothalamic-pituitary function. One patient showed clear evidence of relapse of Cushings' disease. One patient had unequivocal hypopituitarism. Basal levels of growth hormone (GH), TSH, LH, and FSH were not statistically different from controls, but provocative testing revealed significant abnormalities of response of cortisol/ACTH, GH, prolactin and LH. Six out of eight patients had absent diurnal cortisol variation and five patients had elevated serum prolactin levels. Thus, in this group of patients normal pituitary-adrenal function has not been satisfactorily restored. It is clear that significant disturbances of hypothalamic-pituitary function follow megavoltage therapy and these may progress to overt ...
Eight patients who had received megavoltage therapy for Cushings' disease 5-12 years previously have been reviewed. The long term response to this therapy was assessed with respect to efficacy of treatment in inducing continued remission and disturbance of hypothalamic-pituitary function. One patient showed clear evidence of relapse of Cushings' disease. One patient had unequivocal hypopituitarism. Basal levels of growth hormone (GH), TSH, LH, and FSH were not statistically different from controls, but provocative testing revealed significant abnormalities of response of cortisol/ACTH, GH, prolactin and LH. Six out of eight patients had absent diurnal cortisol variation and five patients had elevated serum prolactin levels. Thus, in this group of patients normal pituitary-adrenal function has not been satisfactorily restored. It is clear that significant disturbances of hypothalamic-pituitary function follow megavoltage therapy and these may ...
A multifunctional protein kinase, purified from rat liver as ATP-citrate lyase kinase, has been identified as a glycogen synthase kinase. This kinase catalyzed incorporation of up to 1.5 mol of and)2numberSPO4/mol of synthase subunit associated with a decrease in the glycogen synthase activity ratio from 0.85 to a value of 0.15. Approximately 65-70% of the TUPO4 was incorporated into site 3 and 30-35% into site 2 as determined by reverse phase high performance liquid chromatography. This multifunctional kinase was distinguished from glycogen synthase kinase-3 on the basis of nucleotide and protein substrate specificities. Since the phosphate contents in glycogen synthase of sites 3 and 2 are altered in diabetes and by insulin administration, the possible involvement of the multifunctional kinase was explored. Glycogen synthase purified from diabetic rabbits was phosphorylated in vitro by this multifunctional kinase at only 10% of the rate compared to synthase purified from control ...
The effects of neutron irradiation on the superconducting and normal state properties of alloys and compounds are presented. Particular emphasis is placed on the A-15 compounds where the effects of neutron irradiation on Tsub(c), Hsub(c_2), long range order parameter and lattice parameter are described. Large depressions (up to 80%) in Tsub(c) are observed for all the A-15 compounds studied with the exception of Mo_3Os where much smaller decreases in Tsub(c) are seen. Along with the decrease in Tsub(c) and increase in lattice parameter, the degree of long range order, as measured by X-ray and neutron diffraction, decreases. Also presented are the results of isothermal and isochronal anneals up to 900"0C. The unirradiated value of Tsub(c) can be restored by annealing, and for those systems where measurements have been made, recovery of the lattice parameter and order parameter also takes place. The effects observed in irradiated material, together with those ...
Natural resource valuation has always had a fundamental role in the practice of cost-benefit analysis of health, safety, and environmental issues. Today, this role is becoming all the more apparent in the conduct of natural resource damage assessments (NRDA) and cost-benefit analyses of environmental restoration (ER) and waste management (WM) activities. As such, environmental professionals are more interested in how natural resource values are affected by ER and WM activities. This professional interest extends to the use of NRDA values as measures of liability and legal causes of action under such environmental status as the Clean Water Act (CWA); the Comprehensive Environmental Response, Compensation, and Liability Act of 1980 (CERCLA, as amended); and the Oil Pollution Act (OPA) of 1990. Also, environmental professionals are paying closer attention to NRDA values in cost-benefit analyses of risk and pollution-abatement standards, and in meeting environmental ...
Measurements of the magnetic susceptibility betweeen 0.03 and 300 K and of the magnetization between 0.05 and 10 K for magnetic fields up to 60kOe have been used to investigate effects from the interaction between the conduction electrons and local magnetic moments in (Lasub(1-x)Cesub(x))B_6 alloys (0.0007<=x<=0.10). For Ce concentrations x<0.006 the data show Kondo-type single impurity behaviour at low temperatures with a transition from a magnetic to a non-magnetic regime of the Ce ions. In the magnetic regime the impurity susceptibility follows a Curie-Weiss law, and in the non-magnetic regime it varies with T"2. An external magnetic field gradually restores the free-ion behaviour of the Ce impurities. For more concentrated alloys interactions between the impurities are observed. The RKKY interaction strength derived is more than two orders of magnitude smaller than in the Kondo system CuFe. Values of the s-f exchange integral, J, estimated from both ...
Because of their austenitic-ferritic microstructures, duplex stainless steels offer a good combination of mechanical and corrosion resistance properties. However, heat treatments can lower the mechanical strength of these stainless steels as well as render them susceptible to intergranular corrosion (IGC) and pitting corrosion. In this study, a low-carbon (0.02%) duplex stainless steel is subjected to various heat treatments at 450 to 950 C for 30 min to 10 h. The heat-treated samples than undergo ASTM IGC and pitting corrosion tests, and the results are correlated with the microstructures obtained after each heat treatment. In the absence of Cr_2_3C_6 precipitation, #sigma#-phase precipitates render this duplex stainless steel susceptible to IGC and pitting corrosion. Even submicroscopic #sigma#-phase precipitates are deleterious for IGC resistance. Longer-duration heat treatments (at 750 to 850 C) induce chromium diffusion to replenish the chromium-depleted regions around the ...
With the November 1989 formation of the Office of Technology Development (OTD) within the Office of Environmental Restoration and Waste Management (EM) came the responsibility to develop programs to ensurethat enough trained and educated people would be available to support the achievement of EM's 30-year goal. This mission responsibility derives from public policy and Departmental environmental management requirements. Within DOE, urgency to move forward resulted from the assumptions (1) that the current workforce was insufficiently prepared for the transition from a production mission to a mission of environmental compliance and cleanup; and (2) that, given current trends and forecasts, the national education infrastructure was unlikely to yield the scientists, engineers, and technicians to meet future DOE workforce needs, especially in the case of women and minorities who, projected to make up two-thirds of the net entering workforce by the year 2000, ...
Fault analysis is required in addition to the ordinary process of structural analysis (CDP stacking) for the examination of discontinuity in the reflection horizon in question. The fault shape restoration principle is that the reflection point of a reflection wave observed at a certain receiving point is on an ellipse with the shock point and receiving point at its focal points and that the sum of the distances between the reflection point and the focal points is equal to the reflection wave propagation time. The DMO velocity is worked out by calculation using the positive travel time and inverse travel time from the common reflection surface. When the reflection surface is inclined by {theta}, the average interval velocity/cos{theta} is called the DMO velocity. When the reflection surface inclination and the average interval velocities are determined separately in this way, the position of the reflection point may be worked out, and this enables the calculation of ...
The changes in the electrical and structural properties of metal-silicide films caused by ion implantation and subsequent thermal annealing have been investigated. Epitaxial silicide films such as those of CoSi/sub 2/, NiSi/sub 2/ and Pd/sub 2/Si grown on Si(111) substrates were implanted with Ar ions and annealed in a vacuum furnace at temperatures ranging from 200 to 800/sup 0/C. Rutherford backscattering and channeling techniques and the four-point probe method were used to measure the crystalline quality and the sheet resistance of the films, respectively. It was found that the sheet resistances of CoSi/sub 2/, NiSi/sub 2/ and Pd/sub 2/Si films were increased by factors of 70, 6, and 3, respectively, by implantation to a dose of 1 x 10/sup 16/ Ar-ions/cm/sup 2/, but that they were almost restored by subsequent annealing to the values before implantation. A phase transformation from Pd/sub 2/Si to PdSi was also observed in the high-temperature annealing of the ...
The changes in the electrical and structural properties of metal-silicide films caused byion implantation and subsequent thermal annealing have been investigated. Epitaxial silicide films such as those of CoSi"2, NiSi"2 and Pd"2Si grown on Si(111) substrates were implanted with Ar ions and annealed in a vacuum furnace at temperatures ranging from 200 to 800_0C. Rutherford backscattering and channeling techniques and the four-point probe method were used to measure the crystalline quality and the sheet resistance of the films, respectively. It was found that the sheet resistances of CoSi"2, NiSi"2 and Pd"2Si films were increased by factors of 70, 6, and 3, respectively, by implantation to a dose of 1 x 10_1_6 Ar-ions/cm_2, but that they were almost restored by subsequent annealing to the values before implantation. A phase transformation from Pd"2Si to PdSi was also observed in the high-temperature annealing of the implanted Pd"2Si films. (author).
An innovative horizontal drilling system was used to install two horizontal wells as part of an integrated demonstration project at the Savannah River Site (SRS), Aiken, South Carolina. The SRS is located in south-central South Carolina in the upper Coastal Plain physiographic province. The demonstration site is located near the A/M Area, and is currently known as the Integated Demonstration Site. The Department of Energy's Office of Technology Development initiated an integrated demonstration of innovative technologies for cleanup of volatile organic compounds (VOCS) in soils and groundwater at the SRS in 1989. The overall goal of the program is to demonstrate, at a single location, multiple technologies in the fields of drilling, characterization, monitoring, and remediation. Innovative technologies are compared to one another and to baseline technologies in terms of technical performance and cost effectiveness. Transfer of successfully demonstrated technologies and systems ...
An innovative horizontal drilling system was used to install two horizontal wells as part of an integrated demonstration project at the Savannah River Site (SRS), Aiken, South Carolina. The SRS is located in south-central South Carolina in the upper Coastal Plain physiographic province. The demonstration site is located near the A/M Area, and is currently known as the Integated Demonstration Site. The Department of Energy`s Office of Technology Development initiated an integrated demonstration of innovative technologies for cleanup of volatile organic compounds (VOCS) in soils and groundwater at the SRS in 1989. The overall goal of the program is to demonstrate, at a single location, multiple technologies in the fields of drilling, characterization, monitoring, and remediation. Innovative technologies are compared to one another and to baseline technologies in terms of technical performance and cost effectiveness. Transfer of successfully demonstrated technologies and systems to DOE ...
The characteristics of defects induced by Si and Ga focused ion beam (FIB) implantation in n-GaAs have been investigated by means of deep-level transient spectroscopy (DLTS), C--V carrier profiling, and resistance measurements. The DLTS spectra of Si and Ga FIB implanted samples annealed at temperatures up to 500 /sup 0/C are apparently identical to one another and show three different electron traps with an activation energy between 0.25 and 0.6 eV. The resistance increases by more than five orders of magnitude by Si and Ga FIB implantation due to the induced defects. However, it is restored to initial values after annealing at 600 /sup 0/C, except for a sample of Ga implantation with a dose higher than 10/sup 14/ cm/sup 2/ . For annealing of induced defects, there are no intrinsic problems for FIB implantation with a dose lower than 10/sup 13/ cm/sup 2/ .
The characteristics of defects induced by Si and Ga focused ion beam (FIB) implantation in n-GaAs have been investigated by means of deep-level transient spectroscopy (DLTS), C--V carrier profiling, and resistance measurements. The DLTS spectra of Si and Ga FIB implanted samples annealed at temperatures up to 500 "0C are apparently identical to one another and show three different electron traps with an activation energy between 0.25 and 0.6 eV. The resistance increases by more than five orders of magnitude by Si and Ga FIB implantation due to the induced defects. However, it is restored to initial values after annealing at 600 "0C, except for a sample of Ga implantation with a dose higher than 10"1"4 cm"2 . For annealing of induced defects, there are no intrinsic problems for FIB implantation with a dose lower than 10"1"3 cm"2.
Cyclopropane isomerization to propylene over various Eu[sup 3+] loadings in NaX zeolite have been studied by measurements of steady-state and transient kinetics and by Fourier transform infrared spectroscopy. As Eu[sup 3+] loading increases, the rate of deactivation increases, the conversion increases, apparent activation energies are lowered, and Bronsted acid site strength and amounts increase. Apparent activation energies of 13-15 kcal/mol for propylene formation have been observed for these systems, consistent with literature reports for other metal supported heterogeneous catalyst systems. Deactivation studies have shown that activity can be restored by heating in He at 380[degrees]C between various temperature runs, and that gases desorbed during regeneration are predominantly propylene. Poisoning studies of Bronsted sites with Na vapor lead to deactivation of these catalysts. A reaction mechanism scheme based on [pi] allyl intermediates in the supercages of ...
The isomerization of neopentane has been investigated over the 0.76 wt% Pd/SiO{sub 2} catalyst. It is found that after high temperature reduction (HTR, at 873 K) the selectivity for isomerization is much higher than that after low temperature reduction (LTR, at 573 K). A variety of experiments, including kinetic, chemisorption (O{sub 2}, H{sub 2}, and CO), temperature-programmed desorption of H{sub 2}, and X-ray diffraction, showed that this selectivity enhancement cannot be interpreted in terms of H{sub 2} retention by catalyst. Instead, the formation of Pd-Si compound(s) (most probably Pd{sub 3}Si) during HTR seems immediately responsible for the catalytic behavior of HTR Pd/SiO{sub 2} catalysts. A mechanism is proposed for the Pd-SiO{sub 2} interaction in which Pd atoms (or ions) are incorporated into the silica support (via oxygen vacancies) and a new phase of palladium silicide is formed. Regeneration by an oxygen treatment of the HTR sample does not fully ...
Swelling hemoglobin CC erythrocytes stimulates a ouabain-insensitive K flux that restores original cell volume. Studies were performed with the K analog, "8"6Rb. This volume regulatory pathway was characterized for its anion dependence, sensitivity to loop diuretics, and requirement for Na. The swelling-induced K flux was eliminated if intracellular chloride was replaced by nitrate and both swelling-activated K influx and efflux were partially inhibited by 1 mM furosemide or bumetanide. K influx in swollen hemoglobin CC cells was not diminished when Na in the incubation medium was replaced with choline, indicating Na independence of the swelling-induced flux. Identical experiments with hemoglobin AA cells also demonstrated a swelling-induced increase in K flux, but the magnitude and duration of this increase were considerably less than that seen with hemoglobin CC cells. The increased K flux in hemoglobin AA cells was likewise sensitive to anion replacement and to ...
The paper investigates the functional endoscopic sinus surgery with the Messer-linger's technique which treats benign or inflammatory diseases of paranasal sinuses resistant to medical therapy. The goal of this type of surgery is to open the obstructed sinus ostia and restore normal aeration and mucociliary clearance. The computerized tomography permits an accurate assessment of extension and results of functional endoscopic sinus surgery. [Italian] L'articolo discute l'uso della tecnica di Messerklinger nella chirurgia funzionale endoscopica dei seni paranasali per il trattamento delle malattie benigne e delle infiammazioni croniche. Essa disostruisce gli osti sinusali ripristinando la normale areazione e la pulizia mucociliare. La tomografia computerizzata consente di valutare l'estensione e i risultati del trattamento chirurgico funzionale, soprattutto nel caso di insuccesso terapeutico, rilevando malattia nasosinusale ...
The focus of the present Great Lakes water quality agreement between Canada and the United States is on transboundary pollution and particularly the injury to health and property from exposures to persistent toxic substances. Several scientists and policy advisors have suggested, on the basis of the Ecosystem Approach and systems theory, that the agenda should move on to other demanding topics, such as the introduction of exotic species, biodiversity, habitat restoration, fisheries management, sustainable development, and governance of the Great Lakes basin. None of these issues, however, poses the same scale of threat to national sovereignty and bilateral interests as does transboundary pollution. Thus, none warrants the degree of attention that has been and should be paid, despite declining budgets, to assessing and controlling releases of persistent toxic substances that continue to injure fish, wildlife, and human health. Instead, it is recommended that other ...
Basal cell carcinoma (BCC) is the most frequent cutaneous neoplasm, with a generally favorable clinical behavior. Sometimes, indeed, it recurs after therapy and/or metastasizes. As point mutations in the coding sequence of the p53 tumor suppressor gene have been implicated in the progression of many human tumors, we studied the expression of p53 protein on this neoplasia. We tested immunohistochemically the positivity for p53 protein (NCL-p53-CM1, YLEM) on 19 cases of morphologically "non aggressive" BCC (BCC1) and on 19 "aggressive" BCC (BCC2), all with one or more relapses and 3 with distant metastases also. Results were related to clinico-pathological and follow-up data. All but one BCC2 were found positive for p53 protein. Conversely, only 2 cases of BCC1 exhibited low immunoreactivity for p53 protein, with high statistical differences between the two groups. No correlation was found between the immunoreactivity, age of patients, and site of the lesions. The ...
Fourier transform infrared (FTIR) difference spectra have been obtained for the bR----K, bR----L, and bR----M photoreactions in bacteriorhodopsin mutants in which Asp residues 85, 96, 115, and 212 have been replaced by Asn and by Glu. Difference peaks that had previously been attributed to Asp COOH groups on the basis of isotopic labeling were absent or shifted in these mutants. In general, each COOH peak was affected strongly by mutation at only one of the four residues. Thus, it was possible to assign each peak tentatively to a particular Asp. From these assignments, a model for the proton-pumping mechanism of bR is derived, which features proton transfers among Asp-85, -96, and -212, the chromophore Schiff base, and other ionizable groups within the protein. The model can explain the observed COOH peaks in the FTIR difference spectra of bR photointermediates and could also account for other recent results on site-directed mutants of bR.
Purpose/Objective: The role of programmed cell death (apoptosis) as a cellular response to cancer therapy such as radiation or chemotherapy is the subject of much study, and manipulation of the apoptotic response in tumor cells may be valuable in the treatment of a variety of cancers. Both p53 dependent and independent apoptotic pathways have been identified; p53 is mutated in at least 50 % of human cancers and a majority of radiation resistant tumors contain p53 mutations. This study is designed to examine the induction of programmed cell death in a human colon carcinoma cell line that possesses two mutated p53 alleles. Ionizing radiation alone, or in combination with the chemotherapeutic drug 5-fluorouracil (5-FU), were used to elicit the apoptotic response. This study will focus on whether these treatments can induce a significant apoptotic response in cells that have mutated p53 alleles. Materials ...
Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.
The origin of life and the origin of the universe represent two of the most important problems of science. Both are resolved by hydro-gravitational dynamics (HGD) cosmology (Gibson 1996, Schild 1996, Gibson 2009ab), which predicts frozen primordial hydrogen-helium gas planets in clumps as the dark matter of galaxies. Merging Earth-mass planets formed stars, moons and comets to incubate and cosmically seed the first life. Cometary panspermia (Hoyle and Wickramasinghe 1981, 1982; Wickramasinghe et al. 2009) occurs naturally by HGD mechanisms. Comets and moons are fragments from mergers of stardust covered frozen gas planets in their step-wise growth to star mass. Supernovae from stellar over-accretion of planets produce stardust (C, N, O, P etc.) chemical fertilizer. Planets collect this infected radioactive dust gravitationally, to provide liquid water domains in contact with life nutrients seeded with life prototypes. The first mutating, evolving, life from HGD ...
We report the results of a worldwide campaign to observe WZ Sagittae during its 2001 superoutburst. After a 23-year slumber at V=15.5, the star rose within 2 days to a peak brightness of 8.2, and showed a main eruption lasting 25 days. The return to quiescence was punctuated by 12 small eruptions, of ~1 mag amplitude and 2 day recurrence time; these "echo outbursts" are of uncertain origin, but somewhat resemble the normal outbursts of dwarf novae. After 52 days, the star began a slow decline to quiescence. Periodic waves in the light curve closely followed the pattern seen in the 1978 superoutburst: a strong orbital signal dominated the first 12 days, followed by a powerful /common superhump/ at 0.05721(5) d, 0.92(8)% longer than P_orb. The latter endured for at least 90 days, although probably mutating into a "late" superhump with a slightly longer mean period [0.05736(5) d]. The superhump appeared to follow familiar rules for such phenomena in dwarf novae, with ...
Understanding risks from exposures to carcinogens and other chemicals depends upon measurement of their dose to target tissues and their reactivity with critical macromolecules. The authors have used AMS detection of radio-isotopes to assess doses and reactivities at low, environmentally relevant doses. Several biomedical investigations show the effectiveness of quantification of biologically important events at extremely high sensitivity with AMS. Specifically, they have measured the addition of environmental carcinogens such as 2-amino-3,8-dimethylimidazo[4,5-f]-quinoaxaline (MelQx), a chemical found in cooked food, to DNA at concentrations relevant to human exposure. Other low level detection problems in biology, such as immunoassay assessment of small environmental chemicals, is being developed with attomole sensitivity. AMS also aids the assessment of genotoxic risks from chemicals by quantifying the binding of labeled chemicals to DNA. The very toxic and potent carcinogen, ...
We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced ...
The nuclear pore complexes (NPCs) reversibly disassemble and reassemble during mitosis. Disassembly of the NPC is accompanied by phosphorylation of many nucleoporins although the function of this is not clear. It was previously shown that in the transmembrane nucleoporin gp210 a single serine residue at position 1880 is specifically phosphorylated during mitosis. Using amino acid substitution combined with live cell imaging, time-lapse microscopy and FRAP, we investigated the role of serine 1880 in binding of gp210 to the NPC in vivo. An alanine substitution mutant (S1880A) was significantly more dynamic at the NPC compared to the wild-type protein, suggesting that serine 1880 is important for binding of gp210 to the NPC. Moreover a glutamate substitution (S1880E) closely mimicking phosphorylated serine specifically interfered with incorporation of gp210 into the NPC and compromised its post-mitotic recruitment to the nuclear envelope of daughter nuclei. Our findings are consistent ...
This report briefly describes the studies on the mechanism of in vivo DNA repairing by the author in Research Reactor Institute, Kyoto Univ. for the past 30 years. First, the ability of UV radiation to induce transformation was investigated with viral DNA. The formation of thymine-thymine dimer was found harmful to organisms and such dimers were removable by UV-radiation at a low frequency. The mutability was determined in three different E.coli strains with mutator gene, mutT, mutS or mutL. The ability to excise 8-oxoguanin developed in primer DNA was deficient in mutT and miss-pairing left after DNA replication could not be recovered in mutL and mutS strains. Further, DNA repairing mechanism was investigated in other microorganisms; single-strand cleavage caused by exposure to BNCB radiation (boron-neutron-captured beam) could not be repaired in E. coli. Whereas for Deinococcus radiodurans, of which survival rate was not decreased by #gamma#-ray radiation at 5 ...
Investigations into sexual differentiation and pheromone response in the fission yeast Schizosaccharomyces pombe are complicated by the need to first starve the cells of nitrogen. Most mating-related experiments are therefore performed on non-dividing cells. Here we overcome this problem by using two mutants that bypass the nutritional requirements and respond to the M-factor mating pheromone in rich medium. The first mutant lacks the cyr1 gene which encodes adenylate cyclase and these cells contain no measurable amounts of cAMP. When M-factor is added to a growing h+ cyr1- strain it causes a transient G1 arrest of cell division, transcription of mat1-Pm, and elongation of the cells to form shmoos. The second mutant contains the temperature-sensitive pat1-114 allele. At 30 degrees C this mutant was previously shown not only to bypass the nutritional signal but also to stop growing in a state derepressed for pheromone-controlled functions. We now report that an h+ pat1-114 strain ...
Ethidium bromide (EB) and ultraviolet light (UV) in combination are known to produce a synergistic induction of 'petite' mutants in yeast. Two other agents were combined with EB, 3-Carbethoxypsoralene (3 CPs) activated by 365 nm light or #gamma# rays. EB in combination with 3 CPs also resulted in an enhanced production of 'petite' mutants. After the photoaddition of 3 CPs in exponential phase cells, recovery of the 'petite' mutation during dark liquid holding was inhibited by the presence of EB producing an enhanced number of 'petite' mutants. The behavior of mitochondrial antibiotic resistance markers after individual and combined treatments with EB and 3 CPs indicates a random loss of markers after EB and a preferential loss of a certain region for the 3 CPs photoaddition. The combination of the two agents leads to an additivity of total drug marker losses rather than a synergistic loss. The combination of EB with #gamma# rays produced no enhancement in 'petite' ...
Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...
The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the ? subunit of rod cGMP-phosphodiesterase (PDE?). Rd10 mouse exhibits photoreceptor dysfunction and rapid rod photoreceptor degeneration followed by cone degeneration and remodeling of the inner retina. Here, we evaluate whether gene replacement using the fast-acting tyrosine-capsid mutant AAV8 (Y733F) can provide long-term therapy in this model. AAV8 (Y733F)-smCBA-PDE? was subretinally delivered to postnatal day 14 (P14) rd10 mice in one eye only. Six months after injection, spectral domain optical coherence tomography (SD-OCT), electroretinogram (ERG), optomotor behavior tests, and immunohistochemistry showed tha...
Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y chromosomal sequence in 75% of the male-bearing ...
The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.
Human erythrocyte glucose-6-phosphate is normally quite stable in the presence of 10 #mu#M NADP"+. Certain glucose-6-phosphate dehydrogenase variants lose virtually all their activity at this concentration of NADP"+ but are reactivated by 200 #mu#M NADP"+. Such variants presumably have a defect in their NADP"+-binding site. The authors analyzed the sequence of cDNA or genomic DNA from seven unrelated patients with hemolytic anemia due to the inheritance of variants that are reactivated by NADP"+. Six patients had substitutions of one of three adjacent amino acids, and the seventh patient had another amino acid substitution 23 residues downstream. These amino acids are highly conserved, all being present in rat and all but one being found also in Drosophila. The anomalous electrophoretic behavior of some of the variants can be explained by their loss of ability to bind NADP"+. The conclude that the region in which these mutations occur defines the binding domain for ...
Homology analyses of the protein sequences of chicken liver and rat mammary gland fatty acid synthases were carried out. The amino acid sequences of the chicken and rat enzymes are 67% identical. If conservative substitutions are allowed, 78% of the amino acids are matched. A region of low homologies exists between the functional domains, in particular around amino acid residues 1059-1264 of the chicken enzyme. Homologies between the active sites of chicken and rat and of chicken and yeast enzymes have been analyzed by an alignment method. A high degree of homology exists between the active sites of the chicken and rat enzymes. However, the chicken and yeast enzymes show a lower degree of homology. The DADPH-binding dinucleotide folds of the {beta}-ketoacyl reductase and the enoyl reductase sites were identified by comparison with a known consensus sequence for the DADP- and FAD-binding dinucleotide folds. The active sites of all of the enzymes are primarily in hydrophobic regions of ...
Natural sunlight induces a genotoxic response in cultured CHO cells pre-treated with shale oil retort process water. Near ultraviolet light (NUV) component of the solar spectrum is the apparent radiation responsible for photoactivation. Cultured human skin fibroblasts are acutely sensitive to the genotoxic effects of photoactivated process water. The mutagenic potential of photoactivated process water in human cells is the same as that witnessed for an equivalent killing dose of the potent skin carcinogen FUV. DNA repair processes are involved in modulating genotoxic effects of this photo-induced process. The exact magnitude of the potential health-related and environmental risks resulting from photoactivation of retort process waters and other oil shale by-products is unassessed at this time. Our demonstration that a significant rate of mutation occurs in cultured human cells exposed to high dilutions of process waters and fluences of NUV comparable to that ...
A comprehensive dataset of NDV genome sequences was evaluated using bioinformatics to characterize the evolutionary forces affecting NDV genomes. Despite evidence of recombination in most genes, only one event in the fusion gene of genotype V viruses produced evolutionarily viable progenies. The codon-associated rate of change for the six NDV proteins revealed that the highest rate of change occurred at the fusion protein. All proteins were under strong purifying (negative) selection; the fusion protein displayed the highest number of amino acids under positive selection. Regardless of the phylogenetic grouping or the level of virulence, the cleavage site motif was highly conserved implying that mutations at this site that result in changes of virulence may not be favored. The coding sequence of the fusion gene and the genomes of viruses from wild birds displayed higher yearly rates of change in virulent viruses than in viruses of low virulence, suggesting that an ...
The addition of paraquat (methyl viologen) to a growing culture of Escherichia coli K-12 led within 1 hr to a 10- to 20-fold increase in the level of endonuclease IV, a DNase for apurinic/apyrimidinic sites. The induction was blocked by chloramphenicol. Increases of 3-fold or more were also seen with plumbagin, menadione, and phenazine methosulfate. H_2O_2 produced no more than a 2-fold increase in endonuclease IV activity. The following agents had no significant effect: streptonigrin, nitrofurantoin, tert-butyl hydroperoxide, #gamma# rays, 260-nm UV radiation, methyl methanesulfonate, mitomycin C, and ascorbate. Paraquat, plumbagin, menadione, and phenazine methosulfate are known to generate superoxide radical anions via redox cycling in vivo. A mutant lacking superoxide dismutase was unusually sensitive to induction by paraquat. In addition, endonuclease IV could be induced by merely growing the mutant in pure O_2. The levels of endonuclease IV in uninduced or paraquat-treated cells ...
We investigated the in vitro phenotypic transformation of human embryo (HE) cells that were repeatedly irradiated (7.5 cGy once a week) throughout their life-span. Irradiation was repeated until the cells had accumulated 195 cGy (equivalent to the 26th passage). Samples of cells were assayed for survival by colony formation, as well as for mutation at the hypoxanthine guanine phosphoribosyl transferase (HGPRT) locus and for transformation by focus formation. The life-span (mean number of population doublings) of multiply irradiated cells with a total dose of 97.5 cGy was slightly but significantly prolonged over that of controls. After HE cells had accumulated 195 cGy, the maximum number of divisions increased to 130-160% of the number in non-irradiated control cells. Transformed foci were not observed until cells had accumulated 97.5 cGy, and then increased with the increasing accumulation of radiation. However, no cells showed immortality or expressed a malignant ...
A tk{sup +/-} mouse embryonic stem (ES) cell line, designated 1G2, has been created in which one allele of the thymidine kinase (tk) gene was inactivated by targeted homologous recombination. This line is an analog of the mouse lymphoma tk{sup +/-} L5178Y cell line, which is used widely to assess the mutagenicity of chemical agents. Treatment of 1G2 cells with the alkylating agent N-ethyl-N-nitrosourea (ENU) resulted in a dose-related increase in tribluorothymidine-resistant colonies. Mutant frequencies of 152 and 296 per 10{sup 6} cells were determined for 0.1 and 0.3 mg/ml doses of ENU, compared with a spontaneous mutant frequency of 15 per 10{sup 6} cells. The data indicate that tk{sup +/-} 1G2 ES cells may be useful for the creation of a transgenic mouse model for assessing in vivo mutation using an endogenous autosomal gene. 45 refs., 2 figs., 1 tab.
The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total cellular protein, and supported the ...
Summary The antioxidant properties and toxicity profile of roasted noni (Morinda citrifolia L.) leaf infusion were evaluated. The 2,2-diphenylpicrylhydrazyl (DPPH) radical scavenging activity was greater than green tea infusion (81.6 +- 0.9% vs. 57.5 +- 1.8%, P < 0.001). The mean quercetin and kaempferol contents of roasted noni leaf infusion, as prepared by the consumer, were 0.24 +- 0.01 and 0.14 +- 0.01 mg mL-1, respectively. Tannic acid content was 10 +- 1 mg mL-1. The infusion was non-mutagenic in the reverse mutation test in Salmonella typhimurium and did not induce primary DNA damage in E. coli PQ37. Further, no significant primary DNA damage was induced by 5,15-dimethylmorindol, which was the only detectable anthraquinone in noni leaves. The infusion was not cytotoxic in the 24 h b...
The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously published PMS2 cDNA sequence lack an upstream in-frame stop codon preceding the presumptive initiating methionine. To evaluate the 5` terminus of the PMS2 coding region further, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5` genomic segment of the PMS2 locus. The PMS2 gene transcripts were found to have heterogeneous but colinear 5` termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5-kDa polypeptide was found to initiate transcriptionally within PMS2 from the opposite strand. 23 refs., 5 figs., 2 tabs.
Evolutionary theory holds that aging is a consequence of the declining force of natural selection with age. We discuss here the evidence that among the causes of aging in complex multicellular organisms, such as mammals, is the antagonistically pleiotropic effects of the cellular responses that protect the organism from cancer. Cancer is relatively rare in young mammals, owing in large measure to the activity of tumor suppressor mechanisms. These mechanisms either protect the genome from damage and/or mutations, or they elicit cellular responses--apoptosis or senescence--that eliminate or prevent the proliferation of somatic cells at risk for neoplastic transformation.We focus here on the senescence response, reviewing its causes, regulation and effects. In addition, we describe recent data that support the idea that both senescence and apoptosis may indeed be the double-edged swords predicted by the evolutionary hypothesis of antagonistic pleiotropy--protecting ...
Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...
The authors have previously identified a small-cell lung cancer cell line (NCI-H209) that expresses an aberrant, underphosphorylated form of the retinoblastoma protein RB1. Molecular analysis of RB1 mRNA from this cell line revealed a single point mutation within exon 21 that resulted in a nonconservative amino acid substitution (cysteine to phenylalanine) at codon 706. Stable expression of this mutant RB1 cDNA in a human cell line lacking endogenous RB1 demonstrated that this amino acid change was sufficient to inhibit phosphorylation. In addition, this cysteine-to-phenylalanine substitution also resulted in loss of RB1 binding to the simian virus 40 large tumor and adenovirus E1A transforming proteins. These results confirm the importance of exon 21 coding sequences and suggest that the cysteine residue at codon 706 may play a role in achieving a specific protein conformation essential for protein-protein interactions.
Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.