UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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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

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Gamete development requires a coordinated soma-germ line interaction that ensures renewal and differentiation of germline and somatic stem cells. The physical contact between the germline and somatic...Full Text Available

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Totipotent stem cells have the potential to differentiate into every cell type. Renewal of totipotent stem cells in the germline and cellular differentiation during early embryogenesis rely upon posttranscriptional...Full Text Available

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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 ...

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The neuronal nicotinic acetylcholine receptor {alpha}7 subunit is a member of a family of ligand-gated ion channels, and is the only subunit know to bind {alpha}-bungarotoxin in mammalian brain. {alpha}-Bungarotoxin binding sites are known to be more abundant in the hippocampus of mouse strains that are particularly sensitive to nicotine-induced seizures. The {alpha}7 receptor is highly permeable to calcium, which could suggest a role in synaptic plasticity in the nervous system. Auditory gating deficiency, an abnormal response to a second auditory stimulus, is characteristic of schizophrenia. Mouse strains that exhibit a similar gating deficit have reduced hippocampal expression of the {alpha}7 subunit. We have cloned and sequenced the full length cDNA for the mouse {alpha}7 gene (Acra-7) and characterized its gene structure. The murine {alpha}7 shares amino acid identity of 99% and 93% with the rat and human {alpha}7 subunits, respectively. Using an interspecies ...

UK PubMed Central (United Kingdom)

The phosphatidylinositol pathway is implicated in the regulation of numerous cellular functions and responses to extracellular signals. An important branching point in the pathway is the phosphorylation...Full Text Available

UK PubMed Central (United Kingdom)

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...Full Text Available

UK PubMed Central (United Kingdom)

Changes in the number of chromosomes, but also variations in the copy number of chromosomal regions have been described in various pathological conditions, such as cancer and aneuploidy, but also in...Full Text Available

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PMID:20880255

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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 ...

Science.gov (United States)

Web Security and Online Identity Theft

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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This paper reconsiders the problem of the violation of the Jacobi identity in the algebra of currents. Such a violation has recently been claimed to occur also in the case of free fermionic current. The authors consider a regularization prescription for the corresponding double commuters consistent with the Jacobi identity.

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

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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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

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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 ...

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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

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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

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

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

UK PubMed Central (United Kingdom)

Genetically identical rhesus monkeys would have tremendous utility as models for the study of human disease and would be particularly valuable for vaccine trials and tissue transplantation studies where...Full Text Available

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... of these points corresponds to the ( " 2) term in ... (d) is identical to the 1-sigma ellipse corresponding ... A new approach to linear filtering and predicted ...

DEFF Research Database (Denmark)

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 ...

British Library Electronic Table of Contents (United Kingdom)

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...

UK PubMed Central (United Kingdom)

BackgroundABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting...Full Text Available

UK PubMed Central (United Kingdom)

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

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ObjectivesWe sought to identify a novel gene for dilated cardiomyopathy (DCM).BackgroundDCM is a heritable, genetically...Full Text Available

UK PubMed Central (United Kingdom)

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

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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 ...

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

... 3-89701-147-6 0949-2224 245 p. animal cells dna genetic radiation effects

UK PubMed Central (United Kingdom)

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

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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...

British Library Electronic Table of Contents (United Kingdom)

This study reconceptualizes the native/nonnative dichotomy and provides a powerful lens to examine linguistic identities. In a study of 25 linguistically diverse teacher candidates in Canada, the respondents' native and nonnative self-ascription and self-assessed level of proficiency was juxtaposed with the judgment of their instructors. This process revealed that the native/nonnative dichotomy falls short in capturing the multifaceted nature of individuals' diverse linguistic identities and tends to misrepresent them. Within the specific social context under investigation, 6 linguistic categories that better represented the true linguistic identity of participants were identified. This inquiry reconceptualizes the controversial native/nonnative dichotomy by suggesting that linguistic iden...

UK PubMed Central (United Kingdom)

Motivation: Automatic recognition of cell identities is critical for quantitative measurement, targeting and manipulation of cells of model animals at single-cell resolution. It has been...Full Text Available

UK PubMed Central (United Kingdom)

Brains are usually described as input/output systems: they transform sensory input into motor output. However, the motor output of brains (behavior) is notoriously variable, even under identical sensory...Full Text Available

UK PubMed Central (United Kingdom)

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

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

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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

British Library Electronic Table of Contents (United Kingdom)

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

British Library Electronic Table of Contents (United Kingdom)

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

Scientific Electronic Library Online (English)

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

UK PubMed Central (United Kingdom)

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

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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.

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

SUMMARYThe biologic and clinical significance of KIT overexpression that associates with KIT gain-of- function mutations occurring in subsets...Full Text Available

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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No abstract prepared

UK PubMed Central (United Kingdom)

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

Science.gov (United States)

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 ...

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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Objective: Given the increasing popularity of motorcycle riding and heightened risk of injury or death associated with being a rider, this study explored rider behavior as a determinant of rider safety and, in particular, key beliefs and motivations that influence such behavior. To enhance the effectiveness of future education and training interventions, it is important to understand riders' own views about what influences how they ride. Specifically, this study sought to identify key determinants of riders' behaviors in relation to the social context of riding, including social and identity-related influences relating to the group (group norms and group identity) as well as the self (moral/personal norm and self-identity). Method: Qualitative research was undertaken via group discussions ...

International Nuclear Information System (INIS)

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 ...

UK PubMed Central (United Kingdom)

A common property of aging in all animals is that chronologically and genetically identical individuals age at different rates. To unveil mechanisms that influence aging variability, we identified markers...Full Text Available

UK PubMed Central (United Kingdom)

The genes which encode glycosomal glyceraldehyde-phosphate dehydrogenase (gGAPDH) of Trypanosoma cruzi are arranged as a tandemly repeated pair on a single chromosome and are identical at the level...Full Text Available

Science.gov (United States)

Feb 23, 2011 ... THEMIS-D: The Solid State Telescope (SST) measures the incoming ... Each single sensor covers an angle of 36 degrees. .... The five small satellites were launched together on a Delta II rocket and they carry identical ...

UK PubMed Central (United Kingdom)

Phosphoglycerate kinase (PGK) from the hyperthermophilic bacterium Thermotoga maritima has been purified to homogeneity. A second larger enzyme with PGK activity and identical N-terminal sequence was...Full Text Available

UK PubMed Central (United Kingdom)

Nuclear cloning is still a developing technique used to create genetically identical animals by somatic cell nuclear transfer into unfertilized eggs. Despite an intensive effort in a number...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundIncreasing evidence demonstrates that stem cells maintain their identities by a unique transcription network and chromatin structure. Opposing epigenetic modifications...Full Text Available

UK PubMed Central (United Kingdom)

Delta-hemolysin of coagulase-negative staphylococcal strains was immunologically identical to delta-hemolysin of Staphylococcus aureus (Newman) but distinct from delta-hemolysin from a canine strain...Full Text Available

UK PubMed Central (United Kingdom)

An estimator for the load share parameters in an equal load-share model is derived based on observing k-component parallel systems of identical components that have a continuous...Full Text Available

UK PubMed Central (United Kingdom)

Nuclear transfer (NT) is a procedure by which genetically identical individuals can be created. The technology of pig somatic NT, including in vitro maturation of oocytes, isolation and treatment of...Full Text Available

Science.gov (United States)

...identity of a confidential source and, in the case of...lawful national security intelligence investigation, confidential...only by the confidential source, (v) Disclose investigative...exercise its authority to open to public observation...requires that the meeting be...

International Nuclear Information System (INIS)

The [402]5/2 bands in "1"7"7Ta which are ''identical'' to the neighboring even-even "1"7"6Hf groundstate band have been extended to higher angular momentum. These bands in the two nuclei are seen to diverge from each other in the region of the first i_1_3_/_2 neutron alignment. The lower observed crossing frequency for the [402]5/2 bands indicates a lower deformation for these bands compared to "1"7"6Hf. Extensions to the h_9_/_2 [541]1/2 yrast band are also reported. (orig.).

International Nuclear Information System (INIS)

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 ...

Energy Technology Data Exchange (ETDEWEB)

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 ...

Energy Technology Data Exchange (ETDEWEB)

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 ...

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

British Library Electronic Table of Contents (United Kingdom)

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...

British Library Electronic Table of Contents (United Kingdom)

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 ...

International Nuclear Information System (INIS)

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.

CERN Document Server

It is well known that if one integrates a Schur function indexed by a partition $\\lambda$ over the symplectic (resp. orthogonal) group, the integral vanishes unless all parts of $\\lambda$ have even multiplicity (resp. all parts of $\\lambda$ are even). In a recent paper of Rains and Vazirani, Macdonald polynomial generalizations of these identities and several others were developed and proved using Hecke algebra techniques. However at $q=0$ (the Hall-Littlewood level), these approaches do not work, although one can obtain the results by taking the appropriate limit. In this paper, we develop a direct approach for dealing with this special case. This technique allows us to prove some identities that were not amenable to the Hecke algebra approach, as well as to explicitly control the nonzero values. Moreover, we are able to generalize some of the identities by introducing extra parameters. This leads us to a ...

British Library Electronic Table of Contents (United Kingdom)

This paper examines Pippenger's (2011) proposed solution to the forward bias puzzle, which is based on the covered interest parity (CIP) condition. It is argued that the CIP-based approach does not solve this well known and long-standing puzzle in international finance in a meaningful way. Moreover, it is shown that empirical results from such an approach follow mechanically from the identity-like nature of the theory of covered interest parity, which, aside from small deviations due to transaction costs, is assumed to hold in all periods (as if it were an identity). We show that rather than leading to new insights, the simple reconfiguration of CIP to solve for the time t+1 spot exchange rate leads to tautological expressions that, when estimated, might appear to successfully explain the ...

CERN Document Server

Finding interesting rule in the sixth strategy step about threshold control on generalized relations in attribute oriented induction, there is possibility to select candidate attribute for further generalization and merging of identical tuples until the number of tuples is no greater than the threshold value, as implemented in basic attribute oriented induction algorithm. At this strategy step there is possibility the number of tuples in final generalization result still greater than threshold value. In order to get the final generalization result which only small number of tuples and can be easy to transfer into simple logical formula, the seventh strategy step about rule transformation is evolved where there will be simplification by unioning or grouping the identical attribute. Our approach to measure interesting rule is opposite with heuristic measurement approach by Fudger and Hamilton where the more complex concept hierarchies, more ...

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

In Streptococcus pneumoniae, CpsB, CpsC, and CpsD are essential for encapsulation, and mutants containing deletions of cpsB, cpsC, or cpsD...Full Text Available

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

British Library Electronic Table of Contents (United Kingdom)

My proposed econometric solution to the forward-bias puzzle provoked several comments. Those comments raise three primary objections to my solution. (1) It suffers from multicollinearity, miss-specification and other serious econometric problems. (2) My key test equation is a tautology or identity. (3) My econometric solution has nothing to do with either the forward-bias puzzle or uncovered interest parity. This is my reply to those objections.

Wastenet

... Everyday Creativity as Civic Engagement: A Cultural Citizenship View of New Media. Paper presented at the Communications Policy & Research Forum (CPRF), Sydney, NSW. Foth, M., & Axup, J. (2006, Jul 31 - Aug 5). Participatory Design and Action Research: Identical Twins or Synergetic Pair? In G. Jacucci, F....

CERN Document Server

Standard methods in non-linear analysis are used to show that there exists a parabolic branching of solutions of the Lichnerowicz-York equation with an unscaled source. We also apply these methods to the extended conformal thin sandwich formulation and show that if the linearised system develops a kernel solution for sufficiently large initial data then we obtain parabolic solution curves for the conformal factor, lapse and shift identical to those found numerically by Pfeiffer and York. The implications of these results for constrained evolutions are discussed.

UK PubMed Central (United Kingdom)

Sequence-specific interactions between aminoacyl-tRNA synthetases and their cognate tRNAs both ensure accurate RNA recognition and prevent the binding of noncognate substrates. Here we show for Escherichia...Full Text Available

International Nuclear Information System (INIS)

The study of interaction of tachyons with superluminal electromagnetic fields has been undertaken and it has been shown that the energy of this interaction is similar to that of bradyons with ordinary electromagnetic fields except that the roles of virtual and longitudinal parts are interchanged. It has also been shown that the interaction of tachyons with superluminal electromagnetic fields in time-energy representation is identical to the interaction of bradyons with ordinary electromagnetic fields in space-momentum representation. (author).

Energy Technology Data Exchange (ETDEWEB)

sigma-Aminolevulinate dehydratase has been found to be activated in vitro by dithiotreitol and factors isolated from radish cotyledons grown under continuous far-red light. Cross experiments, between fructose 1-6 bisphosphatase system, and sigma-aminolevulinate dehydratase, show that these factors are functionally identical to thioredoxin f.

UK PubMed Central (United Kingdom)

Studies of flower development in core eudicot species have established a central role for B class MADS-box genes in specifying petal and stamen identities. Similarly in maize and rice, B class genes...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

The general n-point massless p-adic Feynman amplitude with arbitrary parameters of analytic regularization for each line is calculated. This result is presented in the form of a sum over hierarchies of a given graph. The structure of ultraviolet and infrared divergences of p-adic Feynman amplitudes is characterized and the star-triangle uniqueness identity in the p-adic case is derived. (orig.).

CERN Document Server

In this paper, using combinatorial and analytic methods, we prove an exact calculating formula on the $2m$-th power mean value of the generalized quadratic Gauss sums for $m\\geq 2$. This solves a conjecture of He and Zhang [`On the $2k$-th power mean value of the generalized quadratic Gauss sums', Bull. Korean Math. Soc. 48 (2011), No.1, 9-15].

British Library Electronic Table of Contents (United Kingdom)

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. ...

Energy Technology Data Exchange (ETDEWEB)

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 ...

Energy Technology Data Exchange (ETDEWEB)

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, ...

DEFF Research Database (Denmark)

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 ...

International Nuclear Information System (INIS)

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.

Energy Technology Data Exchange (ETDEWEB)

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.

Science.gov (United States)

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 ...

International Nuclear Information System (INIS)

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 ...

Science.gov (United States)

The visible absorption spectra of 1,4-(dihydroxy)-9,10-anthraquinone and of Co(II), Ni(II), Cu(II) and Zn(II) chelates have been studied in different organic solvents. This system provides a model for the anthracycline antibiotics and their metal chelates. The band structure of the spectrum has been determined using the second and fourth derivatives of the spectrum. The visible absorption band of the parent molecule can be assigned to a single electronic state with a reduced dipole moment in the excited state; structure in this band is ascribed to two overlapping vibrational progressions. In contrast, the dianion (hydroxy protons removed) shows a single electronic state with an increased dipole moment in the excited state; structure in this band can be assigned to a single vibrational progression. All of the metal chelates show spectra which are similar in appearance to that of the dianion although the identity of the metal determines the bathochromic shift of the ...

International Nuclear Information System (INIS)

In terms of Berezins's theory of symbols of operators, the integral formulation is suggested for the free differential algebra which gives rise to consistent equations of motion of interacting massless fields of all spins 0#<=#s<#infinity# in the frameworks of gravity. In the first nontrivial order of the expansion in powers of curvatures, Frobenius consistency conditions for higher-spin equations of motion are shown to reduce to the simple geometrical fast that there are two ways for splitting any quadrangle in two triangles. To clarify our construction, we illustrate how it works in the simplest case of pure gravity. (orig.).

Energy Technology Data Exchange (ETDEWEB)

Two new surfactant molecules are reported which contain thermally labile Diels-Alder adducts connecting the polar and non-polar sections of each molecule. The two surfactants possess identical non-polar dodecyl tail segments but exhibit different polar headgroups. The surfactants become soluble in water when anionic salts are formed through the deprotonation of the surfactant headgroups by the addition of potassium hydroxide. When either surfactant is exposed to temperature above about 60.degree. C., the retro Diels-Alder reaction occurs, yielding hydrophilic and hydrophobic fragments or the aqueous solutions of the surfactants subsequently exhibit loss of all surface-active behavior.

International Nuclear Information System (INIS)

The Daya Bay reactor neutrino experiment is located at the Daya Bay nuclear power plant in Shenzhen, China. The experiment deploys eight 'identical' antineutrino detectors to measure antineutrino fluxes from six 2.9 GWth reactor cores in three underground experimental halls at different distances. The target zone of the Daya Bay detector is filled with 20 t 0.1% Gd doped LAB liquid scintillator. The baseline uncorrelated detector uncertainty is ?0.38% using current experimental techniques. Daya Bay can reach a sensitivity of sin22?13<0.01 with baseline uncertainties after 3 years of data taking.

British Library Electronic Table of Contents (United Kingdom)

The search for the mixing angle Formula Not Shown , the last unknown angle in the neutrino mixing matrix, is one of the main priorities in the field of neutrino physics. By measuring Formula Not Shown to better than 0.01 at 90% C.L., the Daya Bay Reactor Neutrino Experiment has the highest sensitivity to this parameter among all the other experiments that are currently operating or under construction. The experiment consists of multiple identical detectors placed underground at different baselines from three groups of reactors, a configuration that minimizes systematic errors and cosmogenic backgrounds. The main aspects of the experiment, as well as its current status and future prospects, are reviewed.

International Nuclear Information System (INIS)

The bosonic string on R"2"5xS"1 has a series of states turning tachyonic at radii implying T=IT_H. We employ the B picture to examine these thermal states in the one-loop free energy and find them in various combinations, factorizing towards rational points on the real line boundary of the fundamental domain B: (-1/2=# 0). These thermal tachyons are interpreted as signaling Hagedorn instabilities against the production of an l-highly-excited-identical-strings state, which gives a relation between the one-loop partition function and l-point functions. (orig.).

Energy Technology Data Exchange (ETDEWEB)

The problems in computer vision range from edge detection and segmentation at the lowest level to the problem of cognition at the highest level. This correspondence describes the organization and operation of a semantic network array processor (SNAP) as applicable to high level computer vision problems. The architecture consists of an array of identical cells each containing a content addressable memory, microprogram control, and a communication unit. The applications discussed in this paper are the two general techniques, discrete relaxation and dynamic programming. While the discrete relaxation is discussed with reference to scene labeling and edge interpretation, the dynamic programming is tuned for stereo.

British Library Electronic Table of Contents (United Kingdom)

We have prepared a series of novel gemini surfactants having ester bonds in their structures. These surfactants possess two identical hydrophilic polyethylene glycol moieties, two hydrophobic alkyl group moieties, and an anionic spacer. The structures of these compounds were confirmed through infrared and nuclear magnetic resonance spectroscopic and elemental analyses. The novel gemini surfactants exhibit excellent surface activity in terms of their surface tension, low-foaming, wetting power, and fluorescence properties. The presence of the ester linkages made these structures cleavable surfactants.

Energy Technology Data Exchange (ETDEWEB)

A variational principle is proposed for defining that canonical transformation, continuously connected with the identity transformation, which minimizes the residual, coordinate-dependent part of the new Hamiltonian. The principle is based on minimization of the mean-square generalized force. The transformation reduces to the action-angle transformation in that part of the phase space of an integrable system where the orbit topology is that of the unperturbed system, or on primary KAM surfaces. General arguments in favor of this definition are given, based on Galilean invariance, decay of the Fourier spectrum, and its ability to include external fields or inhomogeneous systems. The optimal oscillation-center transformation for the physical pendulum, or particle in a sinusoidal potential, is constructed.

British Library Electronic Table of Contents (United Kingdom)

Predicted by stochastic models and observed experimentally in a number of isomerization reactions, viscosity-induced solvent effects manifest themselves in a significant departure of the reaction rates from the values expected on the basis of transition state theory. These effects are well understood within the framework of stochastic models; however, the predictive power of such models is limited by the fact that their parameters are not readily available. Experiment and molecular dynamics (MD) simulations can provide such information and can serve as the testing grounds for various stochastic models. In real solvents, a change in viscosity is inevitably associated with variation of at least one of the three factors - temperature, pressure, or solvent identity, resulting in different solv...

Energy Technology Data Exchange (ETDEWEB)

This paper presents a unique method, currently under evaluation, that can continuously track pipeline operation providing essentially instantaneous responses to leaks or ruptures without causing a pressure drop or energy loss. Using the highly linear characteristics of a very accurate and repeatable meter and then correlating it to a second identical unit, a dynamic leak detection system is planned that can be retrofitted on existing pipelines without a major construction effort nor destroying the integrity of the existing transmission line. Initial tests performed on a crude oil transmission line verified the equipment's performance and established that the repeatability limits are sufficient to continue development of the concept.

British Library Electronic Table of Contents (United Kingdom)

In this paper we consider the general, no-wait and no-idle permutation flowshop scheduling problem with deteriorating jobs, i.e., jobs whose processing times are increasing functions of their starting times. We assume a linear deterioration function with identical increasing rates for all the jobs and there are some dominating relationships between the machines. We show that the problems to minimize the makespan and the total completion time remain polynomially solvable when deterioration is considered, although these problems are more complicated than their classical counterparts without deterioration.

International Nuclear Information System (INIS)

The process of miniemulsification allows the generation of small, homogeneous, and stable droplets containing monomer or polymer precursors and magnetite which are then transferred by polymer reactions to the final polymer latexes, keeping their particular identity without serious exchange kinetics involved. It is shown that the miniemulsion process can excellently be used for the formulation of polymer-coated magnetic nanoparticles which can further be used for biomedical applications. The use of high shear, appropriate surfactants, and the addition of a hydrophobe in order to suppress the influence of Ostwald ripening are key factors for the formation of the small and stable droplets in miniemulsion and will be discussed. Two different approaches based on miniemulsion processes for the encapsulation of magnetite into polymer particles will be presented in detail.

Energy Technology Data Exchange (ETDEWEB)

Studies dialysis kinetics of zinc dialkyldithiophosphates, detergent-dispersing agents, alkyl-phenols and base oils. It was established that diffusion kinetics of oil hydrocarbons through membrane of individual compounds and narrow fractions is described by Brinzinger's formula, which is identical to the kinetic reaction formula of the 1st order. It was shown that dialysis can be utilized to determine the content of the ''active substance'' only in sulphonate and alkylsalycilate additives. Increasing temperature from 20 to 40/sup 0/ results in an increased dialysis constant for all studied products by 1.4-1.9 times.

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The term "homology" or "homologous" means an amino acid similarity measured by the program, BLAST (Altschul et al (1997), "Gapped BLAST and PSI-BLAST: a new generation of protein database search programs", Nucleic Acids Res. 25:33 89 3402), and expressed as --(% identity n/n). In measuring homology between a peptide and a protein of greater size, homology is measured only in the corresponding region; that is, the protein is regarded as only having the same general length as the peptide, allowing for gaps and insertions.

Energy Technology Data Exchange (ETDEWEB)

Human BTEB cDNA clones have been isolated, sequenced, and the corresponding gene has been assigned to human chromosome 9, region q13, by fluorescent in situ hybridization and DNA blot analysis using DNAs from hybrid cell clones containing a single human chromosome. The cDNA clone encodes a polypeptide of 244 amino acids whose sequence shows a high sequence similarity with the rat BTEB (98% amino acid identity).

Science.gov (United States)

Eight phospholipases A2 (PLAs) and four three-finger-toxins (3FTx) from the pooled venom of Bungarus fasciatus (Bf) were previously studied and sequenced, but their expression pattern in individual Bf venom and possible geographic variations remained to be investigated. We herein analyze the individual venom of two Bf specimens from Kolkata (designated as KBf) to address this question. Seven PLAs and five 3FTx were purified from the KBf venoms, and respective cDNAs were cloned from venom glands of one of the snakes. Comparison of their mass and N-terminal sequence revealed that all the PLAs were conserved in both KBf venoms, but that two of their 3FTx isoforms were variable. When comparing the sequences of these KBf-PLAs with those published, only one was found to be identical to that of Bf Vb-2, and the other five were 94-98% identical to those of Bf II, III, Va, VI and XI-2, respectively. Notably, the most abundant PLA isoforms of Bf and KBf ...

International Nuclear Information System (INIS)

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).

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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 ...

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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...

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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...

Science.gov (United States)

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.)

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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...

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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.

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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, ...

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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.

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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...

International Nuclear Information System (INIS)

MR images of steady and pulsatile disturbed flow, obtained with use of flow-compensated spin-echo (SE) and cine pulse sequences, revealed excellent flow visualization in three dimensions. Phantoms, built from molds of actual blood vessels, reproduced laminar, disturbed, or turbulent flow. Video recording (VR), performed under conditions equivalent to those of the MR experiments, showed separation zones identical to those seen on SE images. Pulsatile flow studies showed complex patterns of vortical flow on cine images and VR. Varying pulse sequence details changed contrast but not flow patterns. The validation of MR observations by VR has implications for clinical cine imaging and low abnormal signals observed on MR angiograms.

Science.gov (United States)

We verified and corrected inaccuracies in descriptive profile information on military working dogs (MWDs) that died from 1965 to 1980 and were reported in the Armed Forces Institute of Pathology Registry of Veterinary Pathology. Using other available military records, we determined which dogs served in Vietnam. Identified were 3,895 MWDs with a unique identity tattoo that served in Vietnam, of which 2,389 served exclusively with U.S. military forces and died in Vietnam. Another 479 Vietnam veteran MWDs completed their service elsewhere. This overall effort resulted in signalment corrections, generally age at death, in 21% of the Registry MWD accessions during the study period. The improved definition and characterization of the Vietnam cohort will lead to greater precision in epidemiologic investigations of the health effects from the Vietnam experience in U.S. military working dogs. PMID:7885593

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To test the assumption underlying every morphometric twin study that the brains of monozygotic twins are almost identical. Methods: High resolution MRI of the neurocranium of 26 monozygotic twin pairs were acquired and the volumes of 36 cerebral structures were measured. The same twins served as control group after rear-ranging them into non-related pairs of same sex and matching them for age, body height and body weight. Results: For most of the examined structures the correlations within the twins were significant (R = 0,97-0,59). Except for total forebrain volume the controls showed no significant similarity. Conclusions: For almost every measured cerebral structure the assumption, that significant similarities exist between healthy monozygotic twins is correct. Therefore discordant monozygotic twins represent an excellent sample when investigating cerebral correlates of neurologic and psychiatric disorders. (orig.)

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The morphology and size characteristics of the population of AlP particles produced by treatment of a pure aluminium melt with an Al-Fe-P inoculant addition have been determined. The particles are shown to be polyhedral like the primary silicon they nucleate in hypereutectic Al-Si alloy melts and to be prone to clustering at increased phosphorus addition levels. The number of AlP particles per unit area is shown to be comparable with the corresponding number density of polyhedral primary silicon in Al-20 wt.% Si treated in the same way under identical conditions which is consistent with earlier conclusions that AlP acts as a nucleation catalyst for primary silicon in hypereutectic Al-Si casting alloys. (orig.)

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The spectre of exclusionary medical service provision, restricted clinic access and physician targeting in sectarian-divided Iraq underscores the crucial and timely need for qualitative research into the inter-relationship between conflict, identity and health. In response, this paper provides a critical ethnography of obstetric service provision and patient access during Shia-Sunni hostilities in Gilgit Town, capital of Pakistans Northern Areas (2005). I analyse how services were embedded in and constrained by sectarian affiliation in ways that detrimentally impacted Sunni women patients and hospital staff, resulting in profoundly diminished clinic access, reduced physician coverage and a higher observed incidence of maternal morbidity and mortality. The paper first situates obstetric med...

CERN Document Server

The last unknown neutrino mixing angle $\\theta_{13}$ is one of the fundamental parameters of nature; it is also a crucial parameter for determining the sensitivity of future long-baseline experiments aimed to study CP violation in the neutrino sector. Daya Bay is a reactor neutrino oscillation experiment designed to achieve a sensitivity on the value of $sin^2(2\\theta_{13})$ to better than 0.01 at 90% CL. The experiment consists of multiple identical detectors placed underground at different baselines to minimize systematic errors and suppress cosmogenic backgrounds. With the baseline design, the expected anti-neutrino signal at the far site is about 360 events per day and at each of the near sites is about 1500 events per day. An overview and current status of the experiment will be presented.

CERN Document Server

We study spontaneously generated entanglement (SGE) between two identical multilevel atoms in free space via vacuum-induced radiative coupling. We show that the SGE in two-atom systems may initially increase with time but eventually vanishes in the time scale determined by the excited state lifetime and radiative coupling strength between the two atoms. We demonstrate that a steady-state SGE can be established by incoherently pumping the excited states of the two-atom system. We have shown that an appropriate rate of incoherent pump can help producing optimal SGE. The multilevel systems offer us more chanel to establish entanglement. The system under consideration could be realized in a tight trap or atoms/ions doped in a solid substrate.

CERN Document Server

We present a simple discrete model for the non-linear spatial interaction ofdifferent kinds of ``subpopulations'' composed of identical moving entitieslike particles, bacteria, individuals, etc. The model allows to mimic a varietyof self-organized agglomeration and segregation phenomena. By relating it togame-theoretical ideas, it can be applied not only to attractive and repulsiveinteractions in physical and chemical systems, but also to the much richercombinations of positive and negative interactions found in biological andsocio-economic systems. Apart from investigating symmetric interactions relatedto a continuous increase of the ``overall success'' within the system(``self-optimization''), we will focus on cases, where fluctuations further orinduce self-organization, even though the initial conditions and theinteractions are assumed homogeneous in space (translation invariant).

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We propose a quantum secure direct communication scheme based on non-orthogonal entangled pairs and local measurement. In this scheme, we use eight non-orthogonal entangled pairs to act as quantum channels. Due to the non-orthogonality of the quantum channels, the present protocol can availably prohibit from all kinds of valid eavesdropping and acquire a secure quantum channel. By local measurement, the sender acquires a secret random sequence. The process of encoding on the random sequence is identical to the one in one-time-pad. So the present protocol is secure. Even for a highly lossy channel, our scheme is also valid. The scheme is feasible with present-day techniques.

International Nuclear Information System (INIS)

High-spin states in "1"7"7Ta were produced using the "1"7"0Er("1"1B, 4n) reaction at 55 and 60 MeV. Considerable extensions have been made to the previously known level scheme, and new structures have been found. B(M1)/B(E2) ratios have been extracted for strongly coupled bands. The behavior of the different rotational cascades, in particular the anomalous crossing frequency observed in the [541]1/2"- proton h_9_/_2 band and the occurrence of ''identical bands,'' is discussed. Comparisons are made with projected shell model calculations.

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Weld metal, base material and stainless steel overlay specimens for Charpy tests and static tensile tests were irradiated for a year in a power reactor of the Bohunice nuclear power plant in place of the evaluated surveillance specimens. The material of the specimens was identical with that of the WWER-440 reactor pressure vessels, and was exposed to a fluence of (1.2 - 4.5) x 10"2"3 m"-"2 (E > 0.5 MeV) at approximately 270 degC. Some of the irradiated as well as unirradiated specimens were subjected to regeneration annealing at 475 degC for 168 h. The behavior of the materials after irradiation and annealing was evaluated. (author). 33 tabs., 32 figs., 8 refs.

International Nuclear Information System (INIS)

Despite high local control rate in Ewing's sarcoma the exact indication of radiation therapy is still controversial as well as the choice of the target volume and the optimal dose of radiation. The importance of the quality of radiotherapy has been stressed in recently published data and has shown a significant impact on long term local control with adequate radiation therapy. The dramatic improvement of precision allowed by the conformal therapy and three dimensional dosimetry allow to expect a decrease of late effects expected for second malignancies. However, late sequelae and radio-induced osteosarcoma still remain the major side effects after radiotherapy. The authors discuss the results of the main trials on Ewing's sarcoma on the choice of dose and target volume. Surgery is still the preferred choice for small tumors if the foreseen outcome is identical. (authors). 28 refs.

International Nuclear Information System (INIS)

The production of pairs of doubly charged vector bileptons is studied at future #gamma##gamma# colliders. The unpolarized cross section for the #gamma##gamma##->#Y"-"-Y"+"+ subprocess is analytically calculated and convoluted to predict the number of events in the complete e"+e"-#->##gamma##gamma##->#Y"-"-Y"+"+ process. The gauge or nongauge character of the vector bilepton Y"#+-#"#+-# is discussed. It is found that, as a consequence of its spectacular signature, as it decays dominantly into two identical charged leptons, and also due to its charge contents, which significantly enhance the cross section, the detection of this class of particles with mass in the sub-TeV region can be at the reach of these colliders. The model-independent nature of our results is stressed.

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Abstract Aim- To explore whether the subspecific genetic entities of Acacia saligna occupy different bioclimatic niches in their native and introduced ranges and whether these niches are predictable using species distribution models (SDMs). Location- Australia, South Africa and the Mediterranean Basin. Methods- Species distribution models were developed in MAXENT using six climatic variables to calculate the climatic suitability of the ranges of A.saligna. We assessed (1) the subspecific niche differences identified by SDMs using measures of niche overlap and model performance; (2) the ability of SDMs to predict the most likely subspecific genetic entities present in South Africa based on comparisons to genetic data; and (3) the ability of SDMs to predict the most likely subspecific geneti...

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As a consequence of the close integration of cattle into the food chain of humans, forensically relevant cases involving cattle (Bos taurus) DNA analysis are common. However, scientific publications reporting the information content of the commonly used bovine short tandem repeat (STR) loci remains scarce. Population studies were performed for 16 polymorphic STR loci (BM1818, BM1824, BM2113, CSRM60, CSSM66, ETH3, ETH10, ETH225, HAUT27, ILSTS006, INRA023, SPS115, TGLA53, TGLA122, TGLA126, and TGLA227) including 4,162 randomly selected cattle representing 20 distinct breeds. The power of parental exclusion, expected and observed heterozygosity, probability of identity, and non-amplifying (?null?) allele frequencies were calculated. Major differences existed in the information content between...

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Idiopathic pulmonary fibrosis is the most lethal form of diffuse lung fibrosis, killing approximately half of those affected within 2-3 years of diagnosis. Until recently, no therapies had been shown to have an impact on disease progression. The Clinical Studies Assessing Pirfenidone (Esbriet) in IPF: Research of Efficacy and Safety Outcomes (CAPACITY) program comprised two almost identical double-blind placebo-controlled studies assessing the effects of pirfenidone on change in forced vital capacity, the primary end point, over a 72-week period. One of these studies was positive, matching in magnitude the benefit seen in two previous positive Japanese studies. The other study did not meet its primary end point but positive trends were consistent in this and a number of secondary end point...

Science.gov (United States)

In terms of the reduced potential energy barrier ? = ?uTS/kT, the rate coefficients for chemical reactions are usually expressed as proportional to e-?. The coupling between vibrational modes of the medium to the reaction coordinate leads to a proportionality of the regularized gamma function of Euler Q(a,?) = ?(a,?)/?(a), with a being the number of modes coupled to the reaction coordinate. In this work, the experimental rate coefficients at various temperatures for several chemical reactions were fitted to the theoretical expression in terms of Q(a,?) to determine the extent of its validity and generality. The new expression affords lower deviations from the experimental points in 29 cases out of 38 and it accounts for the curvature in the logarithmic plots of rate coefficients versus inverse temperature. In the absence of tunneling, conventional theories predict the curvature of these plots to be identically zero.

CERN Document Server

An algorithm for creating synthetic telescope images of Smoothed Particle Hydrodynamics (SPH) density fields is presented, which utilises the adaptive nature of the SPH formalism in full. The imaging process uses Monte Carlo Radiative Transfer (MCRT) methods to model the scattering and absorption of photon packets in the density field, which then exit the system and are captured on a pixelated image plane, creating a 2D image (or a 3D datacube, if the photons are also binned by their wavelength). The algorithm is implemented on the density field directly: no gridding of the field is required, allowing the density field to be described to an identical level of accuracy as the simulations that generated it. Some applications of the method to star and planet formation simulations are presented to illustrate the advantages of this new technique, and suggestions as to how this framework could support a Radiative Equilibrium algorithm are also given as an indication for ...

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Sensory stimuli are encoded differently across cortical layers and it is unknown how response characteristics relate to the morphological identity of responding cells. We therefore juxtasomally recorded action potential (AP) patterns from excitatory cells in layer (L) 2/3, L4, L5 and L6 of rat barrel cortex in response to a standard stimulus (e.g. repeated deflection of single whiskers in the caudal direction). Subsequent single-cell filling with biocytin allowed for post hoc identification of recorded cells. We report three major conclusions. First, sensory-evoked responses were layer- and cell-type-specific but always

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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...