tacstd2 mutation identified: Topics by WorldWideScience.org

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

Receptor protein tyrosine phosphatase T (PTPRT/PTPρ) is frequently mutated in human cancers including colon, lung, gastric and skin cancers. More than half of the identified tumor-derived...Full Text Available

2008-07-01

3

Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy

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

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An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer

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

2009-09-01

5

A DNA transposon-based approach to validate oncogenic mutations in the mouse

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

2008-11-28

6

Occurrence of mutations in the epidermal growth factor receptor gene in X-ray-induced rat lung tumors

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

2008-12-16

7

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, ...

2008-02-01

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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available

2010-09-10

9

aHUS caused by complement dysregulation: new therapies on the horizon

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

1989-03-01

10

Past, present, and future of mutagens in cooked foods.

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

2011-01-01

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Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

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

1986-08-01

12

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

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

2010-11-01

13

Antagonistic Gcn5-Hda1 interactions revealed by mutations to the Anaphase Promoting Complex in yeast

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

2011-05-01

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A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

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

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Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

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

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Missense mutations in the growth hormone receptor dimerization region in Laron syndrome

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 ...

2010-01-01

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Mutation analysis of KRAS prior to targeted therapy in colorectal cancer: development and evaluation of quality by a European external quality assessment scheme

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 ...

1994-09-01

18

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...

2011-01-01

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Absence of the A4 peptide in the G4 glycinin subunit of soybean cultivar Enrei is caused by a point mutation in the Gy4 gene

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.

2005-09-01

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Three novel mutations responsible for Cockayne syndrome group A

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

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. ...

2003-02-01

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Prediction of conformational changes by single mutation in the hepatitis B virus surface antigen (HBsAg) identified in HBsAg-negative blood donors

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

2010-03-12

22

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

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

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Improving protein quality of soybean through induced mutations

Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available

2009-01-01

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Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family

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

2011-02-22

25

British Library Electronic Table of Contents (United Kingdom)

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

2011-01-01

26

Alteration of alpha 1 Na+,K(+)-ATPase "8"6Rb"+ influx by a single amino acid substitution

Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

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 ...

27

PAX6 Mutations and Clinical Features of Congenital Aniridia

PMID:20880255

2010-12-01

28

KoreaScience (Korea)

Full Text Available

2008-11-01

29

Effect of mutations in HNF-1#alpha# and HNF-1#beta# on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells

A systematic RNAi screen reveals involvement of endocytic pathway in neuronal dysfunction in a-synuclein transgenic C. elegans

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 ...

2004-12-03

30

British Library Electronic Table of Contents (United Kingdom)

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...

2008-01-01

31

A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25

Mutation breeding in kalmia juvenile trees derived from shoot tip cultare and kobus seedlings

The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.

1997-03-01

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The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

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

33

British Library Electronic Table of Contents (United Kingdom)

DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of DFNA5 in a large percentage of gastric, colorectal and breast tumors and p53-dependent transcriptional activity have been reported, concluding that DFNA5 acts as a tumor suppressor gene in different frequent types of cancer. Despite these data, the molecular function of DFNA5 has not been investigated properly. Previous transfection studies with mutant DFNA5 in yeast and in mammalian cells showed a toxic effect of the mutant protein, which was not seen after transfection ...

2011-01-01

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Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men

British Library Electronic Table of Contents (United Kingdom)

Summary CAG trinucleotide repeat length in the nuclear polymerase gamma gene (POLg) has been shown to be associated with men with reduced fertility. The present study investigated the frequency of CAG repeat length genotypes and three exonuclease motifs of the POLg in relation to the frequency of mitochondrial nucleotide substitutions. DNA from semen samples of 93 normozoospermic men and 192 non-normozoospermic men was isolated and the specific regions of the genes were amplified by polymerase chain reactions (PCR) and sequenced to identify mutations. The genotypic frequencies of pooled POLg CAG repeat lengths, =10/!=10 heterozygotes and !=10/!=10 homozygotes, were significantly different between normozoospermic and non-normozoospermic men (p p POLg genotype. Of the 17 men with non-synonym...

2006-01-01

35

Identification of a functional nuclear export signal in the green fluorescent protein asFP499

An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes

The green fluorescent protein (GFP) asFP499 from Anemonia sulcata is a distant homologue of the GFP from Aequorea victoria. We cloned the asFP499 gene into a mammalian expression vector and showed that this protein was expressed in the human lymphoblast cell line Ramos RA1 and in the embryonic kidney 293T cell line (HEK 293T). In HEK 293T cells, asFP499 was localized mainly in the cytoplasm, suggesting that the protein was excluded from the nucleus. We identified _1_9_4LRMEKLNI_2_0_1 as a candidate nuclear export signal in asFP499 and mutated the isoleucine at position 201 to an alanine. Unlike the wildtype form, the mutant protein was distributed throughout the cytoplasm and nucleus. This is First report of a GFP that contains a functional NES.

2006-04-21

36

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

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.

1988-08-01

37

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations...Full Text Available

38

mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese

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

2010-01-01

39

British Library Electronic Table of Contents (United Kingdom)

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

2006-01-01

40

Cloning of the neurodegeneration gene drop-dead and characterization of additional phenotypes of its mutation

A framework for evolutionary systems biology

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

2008-01-01

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The development of in vitro mutagenicity testing systems using T-lymphocytes

BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available

42

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

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.

1993-05-01

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Mutation breeding in leguminous crop plants

Udgivelsesdato: 2006/8

2006-01-01

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Induced plasmon mutations affecting the growth habit of peanuts, A. hypogaea L

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.

1988-03-01

45

Association of attention-deficit disorder and the dopamine transporter gene

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

1978-01-01

46

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome

Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed significant association ...

1995-04-01

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The mouse formin (Fmn) gene: Genomic structure, novel exons, and genetic mapping

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 ...

2011-07-19

48

Loss of PINK1 function decreases PP2A activity and promotes autophagy in dopaminergic cells and a murine model

Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.

1997-02-01

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British Library Electronic Table of Contents (United Kingdom)

Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...

2011-01-01

50

Isolation of fetal DNA from nucleated erythrocytes in maternal blood

Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130

Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y chromosomal sequence in 75% of ...

1990-05-01

51

Homology analyses of the protein sequences of fatty acid synthases from chicken liver, rat mammary gland, and yeast

The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.

1996-08-01

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A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding

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 ...

1989-11-01

53

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

The authors have previously identified a small-cell lung cancer cell line (NCI-H209) that expresses an aberrant, underphosphorylated form of the retinoblastoma protein RB1. Molecular analysis of RB1 mRNA from this cell line revealed a single point mutation within exon 21 that resulted in a nonconservative amino acid substitution (cysteine to phenylalanine) at codon 706. Stable expression of this mutant RB1 cDNA in a human cell line lacking endogenous RB1 demonstrated that this amino acid change was sufficient to inhibit phosphorylation. In addition, this cysteine-to-phenylalanine substitution also resulted in loss of RB1 binding to the simian virus 40 large tumor and adenovirus E1A transforming proteins. These results confirm the importance of exon 21 coding sequences and suggest that the cysteine residue at codon 706 may play a role in achieving a specific protein conformation essential for protein-protein interactions.

54

Transcription induces strand-specific mutations at the 5? end of human genes

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

1993-09-01

55

Rapid detection of epidermal growth factor receptor mutations with multiplex PCR and primer extension in lung cancer

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

2008-08-01

56

Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature

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

57

Mutational analysis of bacteriophage lambda lysis gene S.

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

58

Mutation analysis of the ferritin L-chain gene in age-related cataract

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

1986-09-01

59

Incorporation of dUTP does not mediate mutation of A:T base pairs in Ig genes in vivo

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

60

Detection of TP53 mutation, loss of heterozygosity and DNA content in fine-needle aspirates of breast carcinoma.

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

2010-12-01

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61

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

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

1998-01-01

62

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

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

2011-01-04

63

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

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

2010-01-01

64

Analysis of forward mutations induced by N-methyl-N'-nitro-N-nitrosoguanidine in the bacteriophage P22 mnt repressor gene

PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available

65

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

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 ...

1986-04-01

66

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

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

67

A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells

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

68

A cytosine methyltransferase homologue is essential for repeat-induced point mutation in Neurospora crassa

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

2011-03-15

69

Detection of Mitochondrial DNA Mutations in Mammary ...

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

2002-06-25

70

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

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

2004-09-01

71

KMeyeDB: a graphical database of mutations in genes that cause eye diseases

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

72

British Library Electronic Table of Contents (United Kingdom)

KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

2010-01-01

73

Title of paper: the induction of P-53 independent programmed cell death (apoptosis) with ionizing radiation and 5-fluorouracil (5-FU) in the HT-29 human colon carcinoma cell line

The vacuolar processing enzyme (VPE) mutation suppresses an HR-like cell death induced by the double knockout mutant of vacuolar Ca2+-ATPases in Arabidopsis

Purpose/Objective: The role of programmed cell death (apoptosis) as a cellular response to cancer therapy such as radiation or chemotherapy is the subject of much study, and manipulation of the apoptotic response in tumor cells may be valuable in the treatment of a variety of cancers. Both p53 dependent and independent apoptotic pathways have been identified; p53 is mutated in at least 50 % of human cancers and a majority of radiation resistant tumors contain p53 mutations. This study is designed to examine the induction of programmed cell death in a human colon carcinoma cell line that possesses two mutated p53 alleles. Ionizing radiation alone, or in combination with the chemotherapeutic drug 5-fluorouracil (5-FU), were used to elicit the apoptotic response. This study will focus on whether these treatments can induce a significant apoptotic response in cells that have mutated p53 ...

1996-09-01

74

KoreaScience (Korea)

Full Text Available

2011-06-01

75

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

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...

2008-01-01

76

State II Dissociation Element Formation Following Activator Excision in Maize

Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells

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

2007-10-01

77

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

2011-01-01

78

Ras history

Prosthetic rehabilitation of hypophosphatasia: a case report

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

2010-07-01

79

N-acetoxy-N-2-acetylaminofluorene induced frameshift mutations: a comparison between the DNA modification spectrum and the mutation spectrum

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

80

Mutation frequency in hprt gene in children accidentally exposed to ionizing radiations; Frequencia de mutacao no gene hprt em criancas acidentalmente expostas as radiacoes ionizantes

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

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81

Misfolded Proteins and Retinal Dystrophies

No abstract prepared

1995-09-01

82

MEDICAL FINAL REVIEW MEMORANDUM OF ORIGINAL BLA

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

2010-01-01

83

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.

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

84

Genomics of human longevity

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 ...

2011-03-29

85

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model

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

2011-01-12

86

Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation

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

87

Defective gut function in drop-dead mutant Drosophila

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

1998-03-01

88

Cis-regulatory mutations in human disease

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

2009-09-01

89

Abnormal chromosome repair and risk of developing cancer.

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

2009-07-01

90

AEC syndrome - Genetics Home Reference

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

1993-10-01

91

A child with hyperferritinemia: Case report

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...

2011-10-15

92

Spark decomposition of SF/sub 6/: Chemical and biological studies

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

93

Alterations in heart looping induced by overexpression of the tight junction protein Claudin-1 are dependent on its C-terminal cytoplasmic tail.

Gas-insulated systems employing SF/sub 6/ are utilized in a variety of applications in power delivery systems. Because electric arcs, sparks or corona can decompose SF/sub 6/ into byproducts having chemical properties different from SF/sub 6/, environmental concerns arise regarding inadvertent human exposures to electrically-decomposed SF/sub 6/. Biological assays in our laboratory using mammalian cell culture systems have revealed that spark-decomposed SF/sub 6/ produces cell death, and the extent of cell killing increases with increasing spark energy. Chemical analysis of spark-decomposed SF/sub 6/ has identified the major decomposition pathways and byproducts, but biological testing of individual or byproduct mixtures has indicated that these major decomposition products do not contribute, in a significant fashion, to the cell lethality seen in our assays. Further experiments have suggested that S/sub 2/F/sub 10/ may be produced under our decomposition ...

1987-01-01

94

Spontaneous mutations affecting the host range of the B77 strain of avian sarcoma virus involve type-specific changes in the virion envelope antigen.

In vertebrates, the positioning of the internal organs relative to the midline is asymmetric and evolutionarily conserved. A number of molecules have been shown to play critical roles in left-right patterning. Using representational difference analysis to identify genes that are differentially expressed on the left and right sides of the chick embryo, we cloned chick Claudin-1, an integral component of epithelial tight junctions. Here, we demonstrate that retroviral overexpression of Claudin-1, but not Claudin-3, on the right side of the chick embryo between HH stages 4 and 7 randomizes the direction of heart looping. This effect was not observed when Claudin-1 was overexpressed on the left side of the embryo. A small, but reproducible, induction of Nodal expression in the perinodal region on the right side of the embryo was noted in embryos that were injected with Claudin-1 retroviral particles on their right sides. However, no changes in Lefty,Pitx2 or cSnR ...

2006-02-24

95

Prostaglandin E₂ Signals Through PTGER2 to Regulate Sclerostin Expression

Previously it was shown that the host-range gene of the Bratislava strain of avain sarcoma virus (B77 virus) spontaneously mutates with a very high rate. The wild-type B77 virus called B77 virus-II,...Full Text Available

1977-01-01

96

Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.

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

97

Interplay of Reverse Transcriptase Inhibitor Therapy and Gag p6 Diversity in HIV Type 1 Subtype G and CRF02_AG

Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[a]pyrene diolepoxide (BPDE) in human (T)-lymphocytes...Full Text Available

1994-10-01

98

Induction and use of sex linked lethal mutations in the pink bollworm

AbstractThe gag p6 region of HIV-1 has various nonsubstitutionary mutations, including insertions, duplications, deletions, and premature stop codons. Studies have linked gag p6 mutations...Full Text Available

2008-09-01

99

Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals

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 ...

1987-11-16

100

Effect of UV radiation on the killer phenotype in the wine yeast-saccharomycetes and spontaneous variation of this character

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 ...

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101

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.

102

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3)

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

1992-12-01

103

Complementation of areA- regulatory gene mutations of Aspergillus nidulans by the heterologous regulatory gene nit-2 of Neurospora crassa.

PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available

104

Compensation for a Mutated Auxin Biosynthesis Gene of Agrobacterium Ti Plasmid A66 in Nicotiana glutinosa Does Not Result from Increased Auxin Accumulation ¹

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

1987-06-01

105

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available

1989-04-01

106

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

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 ...

2008-08-25

107

Mapping of the human cone transducin {alpha}-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

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

2008-08-25

108

Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2C342Y

We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.

1995-01-01

109

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...

2007-01-01

110

Cell-mediated mutagenesis and cell transformation of mammalian cells by chemical carcinogens. [Rats, hamsters

A miniaturized spatial temperature gradient capillary electrophoresis system with radiative heating and automated sample introduction for DNA mutation detection

We have developed a cell-mediated mutagenesis assay in which cells with the appropriate markers for mutagenesis are co-cultivated with either lethally irradiated rodent embryonic cells that can metabolize carcinogenic hydrocarbons or with primary rat liver cells that can metabolize chemicals carcinogenic to the liver. During co-cultivation, the reactive metabolites of the procarcinogen appear to be transmitted to the mutable cells and induce mutations in them. Assays of this type make it possible to demonstrate a relationship between carcinogenic potency of the chemicals and their ability to induce mutations in mammalian cells. In addition, by simultaneously comparing the frequencies of transformation and mutation induced in normal diploid hamster cells by benzo(a)pyrene (BP) and one of its metabolites, it is possible to estimate the genetic target size for cell transformation in vitro.

1977-01-01

111

British Library Electronic Table of Contents (United Kingdom)

Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...

2010-01-01

112

p53 mutation in breast cancer. Correlation with cell kinetics and cell of origin

[Malignant transformation of human fibroblasts by neutrons and by gamma radiation: Relationship to mutations induced

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

2002-06-01

113

Type I Collagen Is a Genetic Modifier of Matrix Metalloproteinase 2 in Murine Skeletal Development

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.

1993-12-31

114

Tuberous Sclerosis Complex Activity is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner

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

2007-06-01

115

Transposable elements are enriched within or in close proximity to xenobiotic-metabolizing cytochrome P450 genes

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

2009-05-06

116

The mitochondrial p53 pathway

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

117

The erratic mitochondrial clock: variations of mutation rate, not population size, affect mtDNA diversity across birds and mammals

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

2009-05-01

118

The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template

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

119

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

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

2010-10-01

120

Technical approaches for mouse models of human disease

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

2002-04-15

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121

Targeting the p53 Pathway in Ewing Sarcoma

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

2011-05-01

122

T cell-engaging BiTE antibodies specific for EGFR potently eliminate KRAS- and BRAF-mutated colorectal cancer cells

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

2011-01-01

123

Species abundance distributions in neutral models with immigration or mutation and general lifetimes

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

2010-07-13

124

Sp1/NF?B/HDAC/miR-29b Regulatory Network in KIT-driven Myeloid Leukemia

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

2010-01-01

125

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

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

2010-04-13

126

Selection and characterization of ricin toxin A-chain mutations in Saccharomyces cerevisiae.

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

127

Role of the nac gene product in the nitrogen regulation of some NTR-regulated operons of Klebsiella aerogenes.

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

1989-02-01

128

Reconstruction of the complete human cytomegalovirus genome in a BAC reveals RL13 to be a potent inhibitor of replication

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

1990-12-01

129

Radiation-induced mutations at mouse hemoglobin loci

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

2010-09-01

130

Pten Knockdown in vivo Increases Excitatory Drive onto Dentate Granule Cells

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

131

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations

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

2011-03-16

132

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

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

2009-06-01

133

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

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

1996-01-01

134

Neurotensin Receptor 1 Is Expressed in Gastrointestinal Stromal Tumors but Not in Interstitial Cells of Cajal

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

135

Natural variation in life history and aging phenotypes is associated with mitochondrial DNA deletion frequency in Caenorhabditis briggsae

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

136

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

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

137

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

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

2010-03-12

138

Mutations affecting the development of the peripheral nervous system in Drosophila: a molecular screen for novel proteins.

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

139

Mutational Analysis of cis-Acting RNA Signals in Segment 7 of Influenza A Virus?

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

2000-12-01

140

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

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

2008-12-01

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141

Mapping of the transcription start site (TSS) and identification of SNPs in the bovine neuropeptide Y (NPY) gene

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

142

Loss of ?-III spectrin leads to Purkinje cell dysfunction recapitulating the behaviour and neuropathology of SCA5 in humans

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

143

Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population

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

2010-04-07

144

Investigation and prediction of the severity of p53 mutants using parameters from structural calculations

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

2009-01-01

145

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

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

2009-08-01

146

Inferring Stabilizing Mutations from Protein Phylogenies: Application to Influenza Hemagglutinin

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

1990-02-01

147

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies

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

2009-04-01

148

Identification of a new gene, molR, essential for utilization of molybdate by Escherichia coli.

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

2010-10-01

149

Identification of a Chemically Induced Point Mutation Mediating Herbicide Tolerance in Annual Medics (Medicago spp.)

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

1990-04-01

150

ICC-MY coordinate smooth muscle electrical and mechanical activity in the murine small intestine

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

2008-05-01

151

Highly Conserved Regimes of Neighbor-Base-Dependent Mutation Generated the Background Primary-Structural Heterogeneities along Vertebrate Chromosomes

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

2010-05-01

152

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

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

153

Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.

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

1991-12-01

154

Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans

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

1979-08-01

155

Gene expression profiling of oxidative stress response of C. elegans aging defective AMPK mutants using massively parallel transcriptome sequencing

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

2010-03-01

156

Gene Therapy in the Retinal Degeneration Slow Model of Retinitis Pigmentosa

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

157

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries

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

2010-01-01

158

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

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

2008-07-01

159

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis

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

160

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency

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

2002-04-01

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161

EGFR Signaling Through an Akt-SREBP-1-Dependent, Rapamycin-Resistant Pathway Sensitizes Glioblastomas to Anti-Lipogenic Therapy

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

162

E2f binding-deficient Rb1 protein suppresses prostate tumor progression in vivo

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

163

Dissecting the Genetic Components of Adaptation of Escherichia coli to the Mouse Gut

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

2011-01-11

164

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.

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

2008-01-01

165

Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation; Nachweis genetischer Veraenderungen in repetitiven DNA-Sequenzen in somatischen menschlichen Zellen nach Bestrahlung im niedrigen Dosisbereich

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

1996-10-29

166

Cyst Formation in Kidney via B-Raf Signaling in the PKD2 Transgenic Mice*

No abstract prepared

1998-03-01

167

Construction of a novel bifunctional biogenic amine receptor by two point mutations of the H2-histamine receptor.

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

2009-03-13

168

Congenital woolly hair without P2RY5 mutation

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

1995-03-01

169

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.

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

2009-01-01

170

Chapter 61: Photoreceptor Cell Degeneration in Abcr^?/? Mice

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 ...

2011-07-19

171

COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia

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

2010-01-01

172

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

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

2010-08-01

173

Apolipoprotein E-Mimetics Inhibit Neurodegeneration and Restore Cognitive Functions in a Transgenic Drosophila Model of Alzheimer's Disease

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

1989-01-01

174

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

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

175

Antagonistic crosstalk between APC and HIF-1?

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

176

Air pollution induces heritable DNA mutations

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

2011-05-15

177

Adenomatous Polyposis Coli and Hypoxia-inducible Factor-1? Have an Antagonistic Connection

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

2002-12-10

178

A piggyBac transposon-based genome-wide library of insertionally mutated Blm-deficient murine ES cells

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

2010-11-01

179

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation

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

2009-04-01

180

A homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, ? cell hyperplasia, and islet cell tumor

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

1994-03-29

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181

A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency

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

2009-11-01

182

1,3-Butadiene: linking metabolism, dosimetry, and mutation induction.

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

2001-01-01

183

Linkage analysis in familial Angelman syndrome

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

1994-11-01

184

Research work on mutation breeding in Egypt during the 1980s

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

1993-07-01

185

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations

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 ...

1990-06-18

186

Ionizing radiation-induced mutation of human cells with different DNA repair capacities

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

2009-06-12

187

Detection of basepair substitution mutation at a frequency of 1 x 10(-7) by combining two genotypic selection methods, MutEx enrichment and allele-specific competitive blocker PCR.

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 ...

1994-12-31

188

The PISA experiment-spallation products identified by Bragg curve spectroscopy

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

1998-01-01

189

A modified immunoblot method to identify substrates of protein kinases

No abstract prepared.

2004-07-01

190

KoreaScience (Korea)

Full Text Available

191

Homology among tet determinants in conjugative elements of streptococci

Hepatic aflatoxin B1-DNA adducts and TP53 mutations in patients with hepatocellular carcinoma despite low exposure to aflatoxin B1 in southern Japan

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 ...

1981-10-01

192

British Library Electronic Table of Contents (United Kingdom)

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

2011-01-01

193

Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects

An ELISA-based high throughput protein truncation test for inherited breast cancer

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 ...

1999-07-15

194

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...

2010-10-04

195

Studies of human mutation rates

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.)

2006-09-01

196

Somatic mutations detected by immunofluorescence and flow cytometry

November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

1990-01-01

197

One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase

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

198

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...

2010-01-01

199

Mutations at the cysteine codons of the recA gene of Escherichia coli

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

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

200

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 ...

2008-01-01

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201

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene.

Amino acid substitution: its use in detection and analysis of genetic variants

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

2009-04-29

202

APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men: results of a cross-sectional study

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.

203

British Library Electronic Table of Contents (United Kingdom)

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

2011-01-01

204

Signal transduction pathway controlling synthesis of a class of degradative enzymes in Bacillus subtilis: expression of the regulatory genes and analysis of mutations in degS and degU.

Relationship between O6-alkylguanine-DNA alkyltransferase activity and N-methyl-N'-nitro-N-nitrosoguanidine-induced mutation, transformation, and cytotoxicity in C3H/10T1/2 cells expressing exogenous alkyltransferase genes.

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

1990-02-01

205

Radiation accidents in the Southern Urals (1949-1967) and human genome damage.

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

1992-12-01

206

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

2002-11-01

207

ORNL `90

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)

1990-12-31

208

ORNL '90

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

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)

1990-01-01

209

Mutations at the accommodation gate of the ribosome impair RF2-dependent translation termination

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

2010-02-01

210

Mutations Affecting Motifs of Unknown Function in the Central Domain of Nitrogen Regulatory Protein C

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

2010-09-01

211

Mutational Analysis of the Carboxy-Terminal (YGX)₄ Repeat Domain of CpsD, an Autophosphorylating Tyrosine Kinase Required for Capsule Biosynthesis in Streptococcus pneumoniae

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

1999-09-01

212

Molecular characterization of cap3A, a gene from the operon required for the synthesis of the capsule of Streptococcus pneumoniae type 3: sequencing of mutations responsible for the unencapsulated phenotype and localization of the capsular cluster on the pneumococcal chromosome.

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

2003-05-01

213

Metabolomic analysis of the plant pathogenic fungi Fusarium graminearum and Fusarium culmorum

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

1994-10-01

214

Environmental Research Database

DescriptionThis project is part of the BBSRCs special initiative on plant and microbial metabolomics. The project will primarily focus on the trichothecene mycotoxin producing Ascomycete fungus Fusarium graminearum (Fg) which causes ear blight disease of small grain cereals. The project aims to explore the metabolome of various wild-type and single gene deletion Fg strains and to compare some of these with the identical gene mutation in the budding yeast, S. cerevisiae (Sc) and the saprophytic filamentous [continued...

2008-01-31

215

Mechanism of radiation induced carcinogenesis: does a threshold exist?

Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease

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.).

1996-10-23

216

Induced mutation in narrow-leafed lupin improvement: An example of herbicide tolerance

Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase ...

1994-09-01

217

Induced mutation in Lupinus mutabilis sweet in Peru

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 ...

2008-08-12

218

High yielding mutants in sesamum

Mutagenesis of Lupinus mutabilis was started at the UNA LM (Peru) to obtain mutants with low alkaloid content and early germination. Varieties SCG 25 and Lib 020 were irradiated with gamma radiation. The optimum dose for the SCG 25 variety was 15 Krad and for Lib 020 15 to 20 Krad. The relation between the plant height and radiation dose fits the quadratic polynomial model.

1984-04-01

219

Handling boundary constraints for numerical optimization by particle swarm flying in periodic search space

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).

220

Genetic and somatic effects in animals maintained on tritiated water

The periodic mode is analyzed together with two conventional boundary handling modes for particle swarm. By providing an infinite space that comprises periodic copies of original search space, it avoids possible disorganizing of particle swarm that is induced by the undesired mutations at the boundary. The results on benchmark functions show that particle swarm with periodic mode is capable of improving the search performance significantly, by compared with that of conventional modes and other algorithms.

2005-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

221

Gene silencing induced by oxidative DNA base damage: association with local decrease of histone H4 acetylation in the promoter region

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)

1981-01-01

222

Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype.

Oxidized DNA bases, particularly 7,8-dihydro-8-oxoguanine (8-oxoG), are endogenously generated in cells, being a cause of carcinogenic mutations and possibly interfering with gene expression. We found...Full Text Available

2010-07-01

223

Evolution of Hepatitis B Virus in a Chronic HBV-Infected Patient over 2 Years

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

1996-02-01

224

Evaluation of radiation induced sesame mutants as affected by some micro nutrients

Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp...Full Text Available

2011-01-01

225

Ephrin B1 Regulates Bone Marrow Stromal Cell Differentiation and Bone Formation by Influencing TAZ Transactivation via Complex Formation with NHERF1?

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.

226

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans*

Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available

2010-02-01

227

Development of radiological emergency preparedness technology

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available

2011-06-17

228

Comparison of the genetic effects of equimolar doses of ENU and MNU: While the chemicals differ dramatically in their mutagenicity in stem-cell spermatogonia, both elicit very high mutation rates in differentiating spermatogonia

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 ...

2000-04-01

229

Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function

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

2007-03-01

230

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

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

231

A High Throughput Combinatorial Library Technique for Identifying Formalin-Sensitive Epitopes

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

232

Identifying Contributing Degradation Phenomena in PEM Fuel Cell Membrane Electrode Assemblies Via Electron Microscopy

We present a technique for identifying the amino acids responsible for a loss of immunoreactivity in response to treating an antigen with a chemical modifier. This is of particular interest...Full Text Available

2006-12-20

233

High resolution line shapes of weak autoionizing resonances identified through fluorescence from the satellite states of Ar+

No abstract prepared.

2006-10-01

234

SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder

No abstract prepared.

1997-07-01

235

British Library Electronic Table of Contents (United Kingdom)

Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...

2011-01-01

236

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

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. ...

2011-01-01

237

Negative Ames-test of cis-di(thiocyanato)-N,N'-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye of the nanocrystalline TiO{sub 2} solar cell

Induction of mutation in Trichoderma viride for conversion of natural cellulose into glucose

Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.

2000-01-01

238

Improvement of banana through biotechnology and mutation breeding

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 ...

1991-12-31

239

Development of radiological emergency preparedness and biological dosimetry technology

Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...

1998-10-01

240

Construction and evaluation of a double mutant of Shigella flexneri as a candidate for oral vaccination against shigellosis.

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, ...

1999-04-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

241

Characterization of the heterokaryotic and vegetative diploid phases of Magnaporthe grisea

Based on studies on the genetic and molecular basis of Shigella flexneri invasive properties, we have constructed and evaluated a double mutant of S. flexneri serotype 5 for utilization as a live attenuated oral vaccine against shigellosis. The first mutation, icsA, blocks intracellular spread of bacteria as well as cell-to-cell infection. It affects the capacity of the invasive pathogen to form large abscesses in epithelia. The second mutation, iuc, eliminates production of the siderophore aerobactin thus impairing growth of the bacterium within tissues. This double mutant, SC5700 appeared safe when administered intragastrically to macaque monkeys as three doses (5 x 10(10) c.f.u. each) at weekly intervals. Protection against a challenge by the wild type isolate (M90T) was observed 4 weeks after the last vaccine inoculation. Duration of carriage was considerably reduced as compared to the control group in which all animals had developed severe ...

1989-10-01

242

Calmodulin Kinase II Interacts with the Dopamine Transporter C Terminus to Regulate Amphetamine-Induced Reverse Transport

The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...

1984-01-01

243

Analysis of the roles of E6 binding to E6TP1 and nuclear localization in the human papillomavirus type 31 life cycle

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 ...

2006-01-01

244

British Library Electronic Table of Contents (United Kingdom)

The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...

2007-01-01

245

Inborn Errors of Metabolism Presenting in Childhood

British Library Electronic Table of Contents (United Kingdom)

Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...

2011-01-01

246

Effect of ionizing radiation and chemical mutagens on vegetatively reproducing plants. Deistvie ioniziruyushchikh izluchenii i khimicheskikh mutagenov na vegetativno razmnozhaemye rasteniya

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3

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.

1981-01-01

247

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries.

Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...

1996-08-01

248

Apoptotic pathways as regulators of recombination

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 ...

2008-04-28

249

Alteration of nucleoside diphosphate binding specificity of E. coli elongation factor Tu (EF-Tu) by single amino acid substitution at position 138

Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L ...

2003-08-17

250

Robust consensus clustering for identification of expressed genes linked to malignancy of human colorectal carcinoma

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 ...

1987-06-07

251

Multilevel support vector regression analysis to identify condition-specific regulatory networks

Previous studies have been conducted in gene expression profiling to identify groups of genes that characterize the colorectal carcinoma disease. Despite the success of previous attempts to identify...Full Text Available

252

Light duty utility arm startup plan

Motivation: The identification of gene regulatory modules is an important yet challenging problem in computational biology. While many computational methods have been proposed to identify...Full Text Available

2010-06-01

253

Large-scale cross-species oncogenomics identifies candidate oncogenes and tumor suppressor genes

This plan details the methods and procedures necessary to ensure a safe transition in the operation of the Light Duty Utility Arm (LDUA) System. The steps identified here outline the work scope and identify responsibilities to complete startup, and turnover of the LDUA to Characterization Project Operations (CPO).

1998-09-01

254

Intelligent techniques applied in identifying fraudsters industrial consumers of electricity; Tecnicas inteligentes aplicadas na identificacao de consumidores industriais fraudadores de energia eletrica

While genomic alterations identified in human tumors using techniques such as comparative genomic hybridisation (CGH) may be recurrent, they frequently encompass large regions, in some cases...Full Text Available

2010-02-01

255

How and when can one identify hadronic molecules in the baryon spectrum

The development of a computational intelligent tools based on neural network to identify commercial losses or fraud (theft energy), considering information from a database electric utility, is presented.

2009-07-01

256

Contingency Space Analysis: An Alternative Method for Identifying Contingent Relations from Observational Data

A method to identify hadronic molecules in the particle spectrum is reviewed and the conditions for its applicability discussed. Special emphasis is put on the discussion of molecule candidates in the baryon spectrum. (orig.)

2008-03-15

257

45 CFR 162.404 - Compliance dates of the implementation of the standard unique health identifier for health care...

Descriptive assessment methods have been used in applied settings to identify consequences for problem behavior, thereby aiding in the design of effective treatment programs. Consensus has not been...Full Text Available

2008-01-01

258

The DIVAD Archaeological Project

...dates of the implementation of the standard unique health identifier for health care providers. 162.404 Section 162.404 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES ADMINISTRATIVE DATA...

2010-10-01

259

DIGITAL LIBRARIES: IMPACT ON SCIENCE ... - MUSPIN - NASA

... Like other surveys in the Hueco Bolson (Carmichael 1983; Whalen 1977, 1978), the BLM survey identified large concentrations of Pueblo period ...

2011-05-14

260

digital libraries, which was identified as a national challenge in the Information ... The linkages between the many digital libraries and information services are ...

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

261

Cartridge Cases

Aviation Maintenance Safety Articles, January/February 1990

... reverse aeb 9 nescesmsy amI identify by block number) Provides procedures for evaluating metal, consumable, and combustible cartridge cases. ...

1980-10-21

262

Industrial waste and pollution in Mongolia

... These are abnormal and an indication of NAVAIRINST 13340.3 identifies these laboratories a possible breakdown in the fuel-handling equip- ...

1990-02-01

263

The effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans

This paper very briefly outlines hazardous waste management issues, including regulations, in Mongolia. Air, water, and soil pollutants are identified and placed in context with climatic, social, and economic circumstances. The primary need identified is technology for the collection and disposal of solid wastes. Municipal waste problems include rapid urbanization and lack of sanitary landfills. Industrial wastes of concern are identified from the mining and leather industries. 4 refs., 2 tabs.

1996-12-31

264

Sodium-driven motor of the polar flagellum in marine bacteria Vibrio

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).

265

British Library Electronic Table of Contents (United Kingdom)

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 ...

2011-01-01

266

Prostate cancer immunology - an update for Urologists

British Library Electronic Table of Contents (United Kingdom)

A better understanding of the immune processes in the pathogenesis and progression of prostate cancer (CaP) may point the way towards improved treatment modalities. The challenge is to amplify immune responses to combat tumour escape mechanisms. Infection and inflammation may have a role in prostate carcinogenesis, including the newly discovered xenotropic murine leukaemia virus (XMRV). These inflammatory states damage defence mechanisms and induce a high proliferative state favouring further mutation and impaired immune surveillance. With this knowledge we are able to explore the use of immunotherapy to rejuvenate the immune system in combating CaP. Recently Sipuleucel-T, an immunotherapeutic agent for metastatic androgen independent CaP, has resulted in improved survival and might be the...

2011-01-01

267

New Public Management et professions dans l'Etat : au-dela des oppositions, quelles recompositions ?

British Library Electronic Table of Contents (United Kingdom)

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...

2011-01-01

268

Metabolic engineering of carotenoid accumulation by creating a metabolic sink

British Library Electronic Table of Contents (United Kingdom)

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...

2007-01-01

269

IAEA RESEARCH CONTRACTS FIRST ANNUAL REPORT. Technical reports Series No. 4

Hypoxia decreases sclerostin expression and increases Wnt signaling in osteoblasts

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.)

1961-01-01

270

British Library Electronic Table of Contents (United Kingdom)

Mutations in sclerostin function or expression cause sclerosing bone dysplasias, involving decreased antagonism of Wnt/Lrp5 signaling. Conversely, deletion of the VHL tumor suppressor in osteoblasts, which stabilize HIF-a isoforms and thereby enables HIF-a/b-driven gene transcription, increases bone mineral content and cross-sectional area compared to wild-type controls. We examined the influence of cellular hypoxia (1% oxygen) upon sclerostin expression and canonical Wnt signaling. Osteoblasts and osteocytes cultured under hypoxia revealed decreased sclerostin transcript and protein, and increased expression and nuclear localization of activated b-catenin. Similarly, both hypoxia and the hypoxia mimetic DFO increased b-catenin gene reporter activity. Hypoxia and its mimetics increased exp...

2010-01-01

271

Genetic testing for hereditary cancer: Effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure

British Library Electronic Table of Contents (United Kingdom)

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...

2011-01-01

272

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters

British Library Electronic Table of Contents (United Kingdom)

Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...

2011-01-01

273

Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in Patients With von Hippel-Lindau Syndrome After at Least 5 Years of Followup

British Library Electronic Table of Contents (United Kingdom)

PurposeAlthough the safety and feasibility of partial adrenalectomy in patients with von Hippel-Lindau syndrome have been established, long-term outcomes have not been examined. In this study we evaluate the recurrence and functional outcomes in a von Hippel-Lindau syndrome cohort treated for pheochromocytoma with partial adrenalectomy with a followup of at least 5 years. Materials and MethodsWe reviewed the records of patients with von Hippel-Lindau syndrome treated with partial adrenalectomy for pheochromocytoma at the National Cancer Institute. Demographic, germline mutation status, surgical indication, oncologic and functional outcome data were collected. Local recurrence was defined as radiographic evidence of recurrent tumor on the ipsilateral side of partial adrenalectomy. Patients ...

2010-01-01

274

Effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

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.

1984-08-01

275

British Library Electronic Table of Contents (United Kingdom)

Please cite this paper as: Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study. Experimental Dermatology 2008; 17: 203-207. Abstract: Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene. A feature of this mouse model is ectopic mineralization of connective tissue capsule surrounding the bulb of vibrissae. This study was designed to investigate the effect of dietary sevelamer hydrochloride (Renagel), a phosphate binder, and specific mineral modifications on ectopic mineralization of connective tissue in Abcc6-/- mice. Three groups were fed a specific di...

2008-01-01

276

Cyclosporine metabolic side effects: association with the WNK4 system

British Library Electronic Table of Contents (United Kingdom)

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, ...

2011-01-01

277

Characteristics of radiation-induced neoplastic transformation in vitro

Amphiphysin (Amph) maps to the proximal region of mouse chromosome 13

Data are presented to support the hypothesis that the initial step in the morphologic transformation of irradiated rodent (BALB/3T3) cells is a frequent cellular event involving a large fraction of the irradiated population. This process appears to involve DNA damage, but not to represent a targeted mutation in specific structural gene(s). Morphologic transformation and immortalization appear to be distinct steps in the overall process of transformation. In contradistinction to rodent cells, immortalization is a very rare event in human diploid cells which is induced at extremely low frequencies. The hypothesis is presented that immortality develops among clones of cells bearing stable chromosomal rearrangements which emerge during the proliferation of a population of radiation damaged cells.

1986-01-01

278

Radiation effects on shoot tip culture of chrysanthemum, 2

Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune ...

1995-07-20

279

One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase.

(1) Young chrysanthemums were planted after being irradiated at the time of shoot tip culture and the influence of irradiation was evaluated from the point of view of establishment of mutants. (2) Two cultivars, Kin-tenryu and Tenryu-no-asa were used in this experiment. The percentage of cultivars healthy enough to transplant on June 10, 1972 showed a decrease in proportion to the increase of dosage. Some plants of cultivar Kin-tenryu died after being transplanted. (3) Few plants of either cultivar could overwinter, and in particular no plant irradiated by gamma-rays of 20 kR. (4) Plant height showed a tendency of inhibition in both cultivars. (5) Three chlorophyll mutants showing chimera appeared. One of them was in the cultivar Tenryu-no-asa irradiated by 10 kR at 3 days after planting; two of them were in the cultivar Tenryu-no-asa irradiated by 10 kR at 5 days after planting. One mutant exhibiting malformation of entire leaves appeared in the cultivar Kin-tenryu irradiated by 20 kR ...

280

Novel method for differentiation between Trastuzumab and host adaptive response.

We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60 degrees C). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at high temperatures is desired to weaken or melt secondary structure motifs. To demonstrate the ability of Taq M1 for RNA detection of pathogens, we performed TaqMan probe-based ...

2010-02-01

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281

Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone

Humoral immune response to human epidermal growth factor receptor 2 (HER-2/neu or ErbB-2) has been detected in sera of breast cancer patients and shown to be an appropriate prognostic marker (Taylor et al., 2007). However, since Trastuzumab (Herceptin) is a widely used monoclonal antibody as cancer therapy agent for tumors over-expressing HER-2, there is a need for an efficient way to detect host-generated antibodies against HER-2 without the confounding effect of Herceptin. Here we describe a screening method developed to decipher between host antibodies against HER-2 and that of Herceptin. By producing a series of truncation mutants within the epitope of Herceptin, we were able to inhibit this binding. We demonstrated also that by a three amino acid substitution (PPF?SSS) we were able to abrogate Herceptin binding while generating a highly conserved HER-2 extracellular domain (ECD). By producing a stable cell line that expresses this mutated form of the human ...

2011-06-08

282

A single amino acid substitution modulates low-pH-triggered membrane fusion of GP64 protein in Autographa californica and Bombyx mori nucleopolyhedroviruses

Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s ...

1995-06-19

283

A single amino acid substitution (R441A) in the receptor-binding domain of SARS coronavirus spike protein disrupts the antigenic structure and binding activity

We have previously shown that budded viruses of Bombyx mori nucleopolyhedrovirus (BmNPV) enter the cell cytoplasm but do not migrate into the nuclei of non-permissive Sf9 cells that support a high titer of Autographa californica multicapsid nucleopolyhedrovirus (AcMNPV) multiplication. Here we show, using the syncytium formation assay, that low-pH-triggered membrane fusion of BmNPV GP64 protein (Bm-GP64) is significantly lower than that of AcMNPV GP64 protein (Ac-GP64). Mutational analyses of GP64 proteins revealed that a single amino acid substitution between Ac-GP64 H155 and Bm-GP64 Y153 can have significant positive or negative effects on membrane fusion activity. Studies using bacmid-based GP64 recombinant AcMNPV harboring point-mutated ac-gp64 and bm-gp64 genes showed that Ac-GP64 H155Y and Bm-GP64 Y153H substitutions decreased and increased, respectively, the multiplication and cell-to-cell spread of progeny viruses. These results ...

2010-09-01

284

Technical area status report for chemical/physical treatment. Volume 2, Appendices

The spike (S) protein of severe acute respiratory syndrome coronavirus (SARS-CoV) has two major functions: interacting with the receptor to mediate virus entry and inducing protective immunity. Coincidently, the receptor-binding domain (RBD, residues 318-510) of SAR-CoV S protein is a major antigenic site to induce neutralizing antibodies. Here, we used RBD-Fc, a fusion protein containing the RBD and human IgG1 Fc, as a model in the studies and found that a single amino acid substitution in the RBD (R441A) could abolish the immunogenicity of RBD to induce neutralizing antibodies in immunized mice and rabbits. With a panel of anti-RBD mAbs as probes, we observed that R441A substitution was able to disrupt the majority of neutralizing epitopes in the RBD, suggesting that this residue is critical for the antigenic structure responsible for inducing protective immune responses. We also demonstrated that the RBD-Fc bearing R441A mutation could not bind to soluble and ...

2006-05-26

285

Nuclear fuel assembly identification using computer vision

These Appendices describe various technologies that may be applicable to the Mixed Waste Treatment Plant (MWTP) Chemical/Physical Treatment System (CPTS). These technologies were identified by the CPTS Technical Support Group (TSG) as potentially applicable to a variety of separation, volume reduction, and decontamination requirements. The purpose was to identify all available and developing technologies, and their characteristics, for subsequent evaluation for specific requirements identified for the CPTS. However, the technologies described herein are not necessarily all inclusive, nor are they necessarily all applicable.

1993-08-01

286

MEG studies of human vision: Retinotopic organization of V1

This report describes an improved method of remotely identifying irradiated nuclear fuel assemblies. The method uses existing in-cell TV cameras to input an image of the notch-coded top of the fuel assemblies into a computer vision system, which then produces the identifying number for that assembly. This system replaces systems that use either a mechanical mechanism to feel the notches or use human operators to locate notches visually. The system was developed for identifying fuel assemblies from the Fast Flux Test Facility (FFTF) and the Clinch River Breeder Reactor, but could be used for other reactor assembly identification, as appropriate.

1985-11-01

287

sUAS Presentation 26June08.ppt

A primary goal of noninvasive studies of human vision is to identify and characterize multiple visual areas in the human brain analogous to those identified in studies of nonhuman primates. By combining functional MEG measurements with images of individual anatomy derived from MRI, the authors hope to determine the location and arrangement of multiple visual areas in human cortex and to probe their functional significance. The authors have identified several different visual areas thus far which appear to be topographically organized. This paper focuses on the retinotopic characterization of the primary visual area (V1) in humans.

1993-12-31

288

Timber Compartment Boundary

Jun 26, 2008 ... NAVAIRINST 13034.1C. ACC/ARC/ NAT IPT/EDT ENGINEERING. OWNER. FLEET. REQUIREMENT. IDENTIFIED. PROGRAM INITIATED ...

289

The skeletal muscle ryanodine receptor identified as a molecular target of[3H] azidodantrolene by photoaffinity labeling

Timber Compartment Boundary This data set identifies the 90 timber compartment boundaries in a 200 square-mile study ... Kawishiwi Ranger Districts, Superior National ...

290

The Physical Attractiveness of Electronic Physician Notes

... 16, 2001 0006-2979 BIORAK v. 40(2) APPLIED LIFE SCIENCES azido

2001-04-01

291

The I3I Model; Identifying Cultural Determinants of Information ...

Though notes in electronic medical record systems (EMRs) have advantages, they are often criticized for their unattractive and unprofessional appearance. We sought to identify notes regarded by physicians...Full Text Available

2010-01-01

292

The Financial War on Terrorism: Grading US Strategy for ...

... Information behavior in dynamic group work contexts: Interwoven situational awareness, dense social networks and contested collaboration in ...

2009-06-01

293

Survey of non-prescribed use of antibiotics for children in an urban community in Mongolia

... that operated in Pakistan, Dubai, and throughout the Middle East ... identifies 'funds' as one of eight major terrorist ... techniques, and procedures (TTP). ...

2006-04-15

294

Social, Clinical and Microbiological Differential Characteristics of Tuberculosis among Immigrants in Spain

AbstractObjectiveTo estimate the prevalence and identify the determinants of non-prescription use of antibiotics for children in Mongolia.MethodsA...Full Text Available

2010-12-01

295

Science and technology for industrial ecology

BackgroundTo identify the differential tuberculosis (TB) characteristics within the immigrant population with respect to natives in Spain.Methodology/Principal...Full Text Available

296

Role of Orvosi Hetilap in the development of Hungarian gastroenterology

This paper first discusses the challenge offered by natural and anthropogenic systems in all of their complexity and then indicates some areas of research in which specific scientific and technological needs are identifiable.

1996-07-10

297

Report of the Geostatistical Analysis of High Resolution ...

AIM: To analyze the contribution of Orvosi Hetilap (Hungarian Medical Journal) to the field of gastroenterology.METHODS: All issues of the journal between 1857 and 2008 and identified...Full Text Available

2010-05-14

298

Plasmid-Determined Copper Resistance in Pseudomonas syringae from Impatiens

... The variogram analysis of the high resolution imagery has shown that although more spatial scales have been identified than from the SPOT image ...

1998-05-01

299

Physiologic changes during growth and development.

A strain of Pseudomonas syringae was recently identified as the cause of a new foliar blight of impatiens. The bacterium was resistant to copper compounds, which are used on a variety...Full Text Available

1990-01-01

300

Patient persistence with first-line antiglaucomatous monotherapy

To express growth-related changes in physiologic or other functions in forms usable for kinetic modeling, we are interested in identifying regular relationships that take the form of simple mathematical...Full Text Available

1994-12-01

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301

Optimization for Vibration Isolation.

PurposeTo identify the extent of persistence (period of time of continuous therapy with the drug prescribed) of glaucoma patients treated with prostaglandins (latanoprost, bimatoprost,...Full Text Available

2010-01-01

302

Medical Conditions of Nursing Home Admissions

An almost linear optimization problem of importance in vibration isolation has been identified and algorithms were developed to minimize the forced vibrational response of structural systems. The constraints can be either displacements of accelerations. T...

1983-01-01

303

Measurement methods for human exposure analysis.

BackgroundAs long-term nursing home care is likely to increase with the aging of the population, identifying chronic medical conditions is of particular interest. Although need factors...Full Text Available

304

High resolution line shapes of weak autoionizing resonances identified through fluorescence from the satellite states of Ar+

The general methods used to complete measurements of human exposures are identified and illustrations are provided for the cases of indirect and direct methods used for exposure analysis. The application...Full Text Available

1995-04-01

305

Factors Linked to Bacterial Vaginosis in Nonpregnant Women

English 1 Jul 1997 [vp.] United States McLaughlin, KW Yenen, O. Samson,

1997-07-16

306

Facilities evaluation report

Objectives. The purposes of this study were to test the hypothesis that vaginal douching is linked to bacterial vaginosis in both symptomatic and asymptomatic women and to identify...Full Text Available

2001-10-01

307

Coping Strategies of Family Members of Hospitalized Psychiatric Patients

The Buried Waste Integrated Demonstration (BWID) is a program of the Department of Energy (DOE) Office of Technology Development whose mission is to evaluate different new and existing technologies and determine how well they address DOE community waste remediation problems. Twenty-three Technical Task Plans (TTPs) have been identified to support this mission during FY-92; 10 of these have identified some support requirements when demonstrations take place. Section 1 of this report describes the tasks supported by BWID, determines if a technical demonstration is proposed, and if so, identifies the support requirements requested by the TTP Principal Investigators. Section 2 of this report is an evaluation identifying facility characteristics of existing Idaho National Engineering Laboratory (INEL) facilities that may be considered for use in BWID technology demonstration activities.

1992-04-01

308

Computer Vision Hardware System for Automating Rough Mills of Furniture Plants

This exploratory research paper investigated the coping strategies of families of hospitalized psychiatric patients and identified their positive and negative coping strategies. In this paper, the coping...Full Text Available

2011-01-01

309

Characterization of a mycovirus associated with the brown discoloration of edible mushroom, Flammulina velutipes

... company. To automate this initial cutup requires a computer vision system that can locate and identify surface defects ... ...

310

BackgroundA mycovirus previously identified in brown discolored fruiting bodies of the cultivated mushroom Flammulina velutipes was characterized. We tentatively...Full Text Available

311

Cartridge Cases.

Biosynthesis and metabolism of salicylic acid.

This report provides procedures for evaluating metal, consumable, and combustible cartridge cases. It identifies supporting tests, facilities, and equipment required. Subtests include weapon and ammunition preparation, initial inspection, ammunition chara...

1980-01-01

312

Biogenesis of the Protein Storage Vacuole Crystalloid

Pathways of salicylic acid (SA) biosynthesis and metabolism in tobacco have been recently identified. SA, an endogenous regulator of disease resistance, is a product of phenylpropanoid metabolism formed...Full Text Available

1995-05-09

313

Alpha-toxin of Staphylococcus aureus.

We identify new organelles associated with the vacuolar system in plant cells. These organelles are defined biochemically by their internal content of three integral membrane proteins: a chimeric reporter...Full Text Available

2000-08-21

314

49 CFR 130.11 - Communication requirements.

Alpha-toxin, the major cytotoxic agent elaborated by Staphylococcus aureus, was the first bacterial exotoxin to be identified as a pore former. The protein is secreted as a single-chain, water-soluble...Full Text Available

1991-12-01

315

Watching Systems in graphs: an extension of Identifying Codes

...identified as oil when the shipment document accurately describes the material as: aviation fuel, diesel fuel, fuel oil, gasoline, jet fuel, kerosene, motor fuel, or...

2010-10-01

316

Sources of toxicity and exposure information for identifying chemicals of high concern to children

We introduce the notion of watching systems in graphs, which is a generalization of that of identifying codes. We give some basic properties of watching systems, an upper bound on the minimum size of a watching system, and results on the graphs which achieve this bound; we also study the cases of the paths and cycles, and give complexity results.

2010-01-01

317

Molecular cloning of the N-terminus of GTBP

Due to the large number of chemicals in commerce without adequate toxicity characterization data, coupled with an ineffective federal policy for chemical management in the United States, many states are grappling with the challenge to identify toxic chemicals that may pose a risk to human health and the environment. Specific populations (e.g., children, elderly) are particularly sensitive to these toxic chemicals. In 2008, the Children's Safe Product Act (CSPA) was passed in Washington State. The CSPA included specific requirements to identify High Priority Chemicals (HPCs) and Chemicals of High Concern to Children (CHCCs). To implement this legislation, a methodology was developed to identify HPCs from authoritative scientific and regulatory sources on the basis of toxicity criteria. Another set of chemicals of concern was then identified from authoritative sources, based on their potential exposure to ...

2010-11-01

318

Identifying the Key Weaknesses in Network Security at Colleges.

Defects in mismatch repair genes cause the genetic instability characteristic of hereditary nonpolyposis colorectal cancer and a subset of sporadic colon tumors. The newest member of the mismatch repair gene family, GTBP, has recently been identified as a partial cDNA. Here, we describe the isolation of its 5{prime} terminus, allowing definition of the entire coding region. Several polymorphisms within the 5{prime} end were identified and are presented. 13 refs., 1 fig.

1996-02-01

319

Identification of unusual Campylobacter-like isolates from poultry products as Helicobacter pullorum

A new study identifies and ranks the 10 security gaps responsible for most outsider attacks on college computer networks. The list is intended to help campus system administrators establish priorities as they work to increase security. One network security expert urges that institutions utilize multiple security layers. (DB)

1999-12-01

320

Epidemiological and clinical features of 1,149 persons with Lyme disease identified by laboratory-based surveillance in Connecticut.

Twenty-six unclassified Campylobacter-like strains previously isolated from 15 chicken carcasses and caecal contents, together with two more strains isolated from chicken faeces on a different occasion, were identified as Helicobacter pullorum using various phenotypic identification methods. API Campy identification kits and a 16-test identification scheme developed for campylobacters failed to identify these bacteria, or identified them as Campylobacter spp. Eighteen strains (including the two isolated on a different occasion) were chosen for examination using a more comprehensive probabilistic identification scheme. Using this method, 14 of the 18 strains were identified as H. pullorum with ID scores > 95%; two strains were also identified as H. pullorum with lower ID scores. Of the remaining two strains, one was not identified with this scheme and the ...

1998-01-01

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321

Design study of copper toroidal field coils with bow shaping, demountable sliding joints, and active liquid-nitrogen cooling

Laboratory-based surveillance of Lyme disease in Connecticut during 1984 and 1985 identified 3,098 persons with suspected Lyme disease; 1,149 were defined as cases. Lyme disease incidence in Connecticut...Full Text Available

1989-05-01

322

CFCC radiant burner assessment. Final report, April 1, 1992--July 31, 1994

The motivation for this design study has been to identify magnet designs for useful magnetic fusion experiments which minimize capital cost. Some possibly useful novel design features have been identified. 5 refs., 6 figs., 3 tabs.

1996-06-16

323

p53 protein in aggressive and non-aggressive basal cell carcinoma.

The objective of this work was to identify methods of improving the performance of gas-fired radiant burners through the use of Continuous Fiber Ceramic Composites (CFCCs). Methods have been identified to improve the price and performance characteristics of the porous surface burner. Results are described.

1994-11-01

324

Vibrational spectroscopy of bacteriorhodopsin mutants: light-driven proton transport involves protonation changes of aspartic acid residues 85, 96, and 212

Basal cell carcinoma (BCC) is the most frequent cutaneous neoplasm, with a generally favorable clinical behavior. Sometimes, indeed, it recurs after therapy and/or metastasizes. As point mutations in the coding sequence of the p53 tumor suppressor gene have been implicated in the progression of many human tumors, we studied the expression of p53 protein on this neoplasia. We tested immunohistochemically the positivity for p53 protein (NCL-p53-CM1, YLEM) on 19 cases of morphologically "non aggressive" BCC (BCC1) and on 19 "aggressive" BCC (BCC2), all with one or more relapses and 3 with distant metastases also. Results were related to clinico-pathological and follow-up data. All but one BCC2 were found positive for p53 protein. Conversely, only 2 cases of BCC1 exhibited low immunoreactivity for p53 protein, with high statistical differences between the two groups. No correlation was found between the immunoreactivity, age of patients, and site of the lesions. The ...

1993-10-01

325

The Origin of Life from Primordial Planets

Fourier transform infrared (FTIR) difference spectra have been obtained for the bR----K, bR----L, and bR----M photoreactions in bacteriorhodopsin mutants in which Asp residues 85, 96, 115, and 212 have been replaced by Asn and by Glu. Difference peaks that had previously been attributed to Asp COOH groups on the basis of isotopic labeling were absent or shifted in these mutants. In general, each COOH peak was affected strongly by mutation at only one of the four residues. Thus, it was possible to assign each peak tentatively to a particular Asp. From these assignments, a model for the proton-pumping mechanism of bR is derived, which features proton transfers among Asp-85, -96, and -212, the chromophore Schiff base, and other ionizable groups within the protein. The model can explain the observed COOH peaks in the FTIR difference spectra of bR photointermediates and could also account for other recent results on site-directed mutants of bR.

1988-11-15

326

The 2001 Superoutburst of WZ Sagittae

The origin of life and the origin of the universe represent two of the most important problems of science. Both are resolved by hydro-gravitational dynamics (HGD) cosmology (Gibson 1996, Schild 1996, Gibson 2009ab), which predicts frozen primordial hydrogen-helium gas planets in clumps as the dark matter of galaxies. Merging Earth-mass planets formed stars, moons and comets to incubate and cosmically seed the first life. Cometary panspermia (Hoyle and Wickramasinghe 1981, 1982; Wickramasinghe et al. 2009) occurs naturally by HGD mechanisms. Comets and moons are fragments from mergers of stardust covered frozen gas planets in their step-wise growth to star mass. Supernovae from stellar over-accretion of planets produce stardust (C, N, O, P etc.) chemical fertilizer. Planets collect this infected radioactive dust gravitationally, to provide liquid water domains in contact with life nutrients seeded with life prototypes. The first mutating, evolving, life from HGD ...

2010-01-01

327

S1 nuclease analysis of #alpha#-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells

We report the results of a worldwide campaign to observe WZ Sagittae during its 2001 superoutburst. After a 23-year slumber at V=15.5, the star rose within 2 days to a peak brightness of 8.2, and showed a main eruption lasting 25 days. The return to quiescence was punctuated by 12 small eruptions, of ~1 mag amplitude and 2 day recurrence time; these "echo outbursts" are of uncertain origin, but somewhat resemble the normal outbursts of dwarf novae. After 52 days, the star began a slow decline to quiescence. Periodic waves in the light curve closely followed the pattern seen in the 1978 superoutburst: a strong orbital signal dominated the first 12 days, followed by a powerful /common superhump/ at 0.05721(5) d, 0.92(8)% longer than P_orb. The latter endured for at least 90 days, although probably mutating into a "late" superhump with a slightly longer mean period [0.05736(5) d]. The superhump appeared to follow familiar rules for such phenomena in dwarf novae, with ...

2002-01-01

328

Role of accelerator mass spectrometry in biological dosimetry

The loss of #alpha#-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of #alpha#-globin gene expression (hemoglobin H disease) in these patients is linked with the #alpha#-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human #alpha#-globin genes. After transfer to mouse erythroleukemia cells, the expression of human #alpha#-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human #alpha#-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the #alpha#-globin ...

329

Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus

Understanding risks from exposures to carcinogens and other chemicals depends upon measurement of their dose to target tissues and their reactivity with critical macromolecules. The authors have used AMS detection of radio-isotopes to assess doses and reactivities at low, environmentally relevant doses. Several biomedical investigations show the effectiveness of quantification of biologically important events at extremely high sensitivity with AMS. Specifically, they have measured the addition of environmental carcinogens such as 2-amino-3,8-dimethylimidazo[4,5-f]-quinoaxaline (MelQx), a chemical found in cooked food, to DNA at concentrations relevant to human exposure. Other low level detection problems in biology, such as immunoassay assessment of small environmental chemicals, is being developed with attomole sensitivity. AMS also aids the assessment of genotoxic risks from chemicals by quantifying the binding of labeled chemicals to DNA. The very toxic and potent carcinogen, ...

1992-04-05

330

Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy

We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced ...

331

British Library Electronic Table of Contents (United Kingdom)

Aims: Serotonin (5-hydroxytryptamine 3; 5-HT3) receptors are involved in chemotherapy-induced nausea and vomiting (CINV), and 5-HT3 antagonists are part of the `gold standard' antiemetic treatment during chemotherapy. We investigated the correlation of common variants in 5-HT3 receptor subunit genes with the occurrence of CINV. Materials & methods: A total of 110 previously characterized chemotherapy-naive women with primary breast cancer treated with anthracycline-containing chemotherapy served as a study group for mutational analysis by direct sequencing. Eight common SNPs in the 5-HT3 receptor genes, HTR3A, HTR3B, HTR3D and HTR3E, were selected for association analysis. Results: A nonsynonymous variant in HTR3D, p.G36A (rs6443930), was found to be over-represented in nonresponders, assu...

2010-01-01

332

Phosphomimetic mutation of the mitotically phosphorylated serine 1880 compromises the interaction of the transmembrane nucleoporin gp210 with the nuclear pore complex

Organisms posses enzymes that function in the repair of DNA damaged by radiations, chemicals and metabolic events

The nuclear pore complexes (NPCs) reversibly disassemble and reassemble during mitosis. Disassembly of the NPC is accompanied by phosphorylation of many nucleoporins although the function of this is not clear. It was previously shown that in the transmembrane nucleoporin gp210 a single serine residue at position 1880 is specifically phosphorylated during mitosis. Using amino acid substitution combined with live cell imaging, time-lapse microscopy and FRAP, we investigated the role of serine 1880 in binding of gp210 to the NPC in vivo. An alanine substitution mutant (S1880A) was significantly more dynamic at the NPC compared to the wild-type protein, suggesting that serine 1880 is important for binding of gp210 to the NPC. Moreover a glutamate substitution (S1880E) closely mimicking phosphorylated serine specifically interfered with incorporation of gp210 into the NPC and compromised its post-mitotic recruitment to the nuclear envelope of daughter nuclei. Our findings are consistent ...

2007-07-15

333

Mutations in cyr1 and pat1 reveal pheromone-induced G1 arrest in the fission yeast Schizosaccharomyces pombe

This report briefly describes the studies on the mechanism of in vivo DNA repairing by the author in Research Reactor Institute, Kyoto Univ. for the past 30 years. First, the ability of UV radiation to induce transformation was investigated with viral DNA. The formation of thymine-thymine dimer was found harmful to organisms and such dimers were removable by UV-radiation at a low frequency. The mutability was determined in three different E.coli strains with mutator gene, mutT, mutS or mutL. The ability to excise 8-oxoguanin developed in primer DNA was deficient in mutT and miss-pairing left after DNA replication could not be recovered in mutL and mutS strains. Further, DNA repairing mechanism was investigated in other microorganisms; single-strand cleavage caused by exposure to BNCB radiation (boron-neutron-captured beam) could not be repaired in E. coli. Whereas for Deinococcus radiodurans, of which survival rate was not decreased by #gamma#-ray radiation at 5 ...

1998-01-01

334

Mitochondrial genetic damage induced in yeast by a photoactivated furocoumarin in combination with ethidium bromide or ultraviolet light

Investigations into sexual differentiation and pheromone response in the fission yeast Schizosaccharomyces pombe are complicated by the need to first starve the cells of nitrogen. Most mating-related experiments are therefore performed on non-dividing cells. Here we overcome this problem by using two mutants that bypass the nutritional requirements and respond to the M-factor mating pheromone in rich medium. The first mutant lacks the cyr1 gene which encodes adenylate cyclase and these cells contain no measurable amounts of cAMP. When M-factor is added to a growing h+ cyr1- strain it causes a transient G1 arrest of cell division, transcription of mat1-Pm, and elongation of the cells to form shmoos. The second mutant contains the temperature-sensitive pat1-114 allele. At 30 degrees C this mutant was previously shown not only to bypass the nutritional signal but also to stop growing in a state derepressed for pheromone-controlled functions. We now report that an h+ pat1-114 strain ...

1994-01-01

335

Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

Ethidium bromide (EB) and ultraviolet light (UV) in combination are known to produce a synergistic induction of 'petite' mutants in yeast. Two other agents were combined with EB, 3-Carbethoxypsoralene (3 CPs) activated by 365 nm light or #gamma# rays. EB in combination with 3 CPs also resulted in an enhanced production of 'petite' mutants. After the photoaddition of 3 CPs in exponential phase cells, recovery of the 'petite' mutation during dark liquid holding was inhibited by the presence of EB producing an enhanced number of 'petite' mutants. The behavior of mitochondrial antibiotic resistance markers after individual and combined treatments with EB and 3 CPs indicates a random loss of markers after EB and a preferential loss of a certain region for the 3 CPs photoaddition. The combination of the two agents leads to an additivity of total drug marker losses rather than a synergistic loss. The combination of EB with #gamma# rays produced no enhancement in 'petite' ...

336

British Library Electronic Table of Contents (United Kingdom)

The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the ? subunit of rod cGMP-phosphodiesterase (PDE?). Rd10 mouse exhibits photoreceptor dysfunction and rapid rod photoreceptor degeneration followed by cone degeneration and remodeling of the inner retina. Here, we evaluate whether gene replacement using the fast-acting tyrosine-capsid mutant AAV8 (Y733F) can provide long-term therapy in this model. AAV8 (Y733F)-smCBA-PDE? was subretinally delivered to postnatal day 14 (P14) rd10 mice in one eye only. Six months after injection, spectral domain optical coherence tomography (SD-OCT), electroretinogram (ERG), optomotor behavior tests, and immunohistochemistry showed tha...

2011-01-01

337

Identification of the binding domain for NADP"+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants

Hemoglobin of mice with radiation-induced mutations at the hemoglobin loci

Human erythrocyte glucose-6-phosphate is normally quite stable in the presence of 10 #mu#M NADP"+. Certain glucose-6-phosphate dehydrogenase variants lose virtually all their activity at this concentration of NADP"+ but are reactivated by 200 #mu#M NADP"+. Such variants presumably have a defect in their NADP"+-binding site. The authors analyzed the sequence of cDNA or genomic DNA from seven unrelated patients with hemolytic anemia due to the inheritance of variants that are reactivated by NADP"+. Six patients had substitutions of one of three adjacent amino acids, and the seventh patient had another amino acid substitution 23 residues downstream. These amino acids are highly conserved, all being present in rat and all but one being found also in Drosophila. The anomalous electrophoretic behavior of some of the variants can be explained by their loss of ability to bind NADP"+. The conclude that the region in which these mutations occur defines the binding domain for ...

338

Genotoxic effects of sunlight-activated waste waters

Chemical analyses were done on the abnormal hemoglobins of the five (101 x SEC)F_1 offspring of X- irradiated adult SEC mice to determine which hemoglobin genes were expressed in each hemoglobin variant. Three offspring of irradiated SEC males did not express either of the two kinds of #alpha#-chains normally found in all SEC mice. The deficient #alpha#-chain synthesis caused these mice to exhibit an #alpha#-thalassemia similar to human #alpha#-thalassemia. Scanning electron microscopy was used to show that many erythrocytes of mice with #alpha#-thalassemia have bizarre shapes; e.g. many erythrocytes appeared flattened or had thorny projections (acanthocytes). One mutant with a tandem duplication of a segment of chromosome 7 (site of locus determining #beta#-chain structure) produced twice as much SEC as 101 #beta#-chain polypeptides. One mutant that probably arose by non-disjunction of chromosome 7's in its unirradiated 101 mother and loss of chromosome 7 from the gamete of its ...

339

Evolutionary dynamics of Newcastle disease virus

Natural sunlight induces a genotoxic response in cultured CHO cells pre-treated with shale oil retort process water. Near ultraviolet light (NUV) component of the solar spectrum is the apparent radiation responsible for photoactivation. Cultured human skin fibroblasts are acutely sensitive to the genotoxic effects of photoactivated process water. The mutagenic potential of photoactivated process water in human cells is the same as that witnessed for an equivalent killing dose of the potent skin carcinogen FUV. DNA repair processes are involved in modulating genotoxic effects of this photo-induced process. The exact magnitude of the potential health-related and environmental risks resulting from photoactivation of retort process waters and other oil shale by-products is unassessed at this time. Our demonstration that a significant rate of mutation occurs in cultured human cells exposed to high dilutions of process waters and fluences of NUV comparable to that ...

1981-01-01

340

Endonuclease IV of Escherichia coli is induced by paraquat

A comprehensive dataset of NDV genome sequences was evaluated using bioinformatics to characterize the evolutionary forces affecting NDV genomes. Despite evidence of recombination in most genes, only one event in the fusion gene of genotype V viruses produced evolutionarily viable progenies. The codon-associated rate of change for the six NDV proteins revealed that the highest rate of change occurred at the fusion protein. All proteins were under strong purifying (negative) selection; the fusion protein displayed the highest number of amino acids under positive selection. Regardless of the phylogenetic grouping or the level of virulence, the cleavage site motif was highly conserved implying that mutations at this site that result in changes of virulence may not be favored. The coding sequence of the fusion gene and the genomes of viruses from wild birds displayed higher yearly rates of change in virulent viruses than in viruses of low virulence, suggesting that an ...

2009-08-15

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

341

Effect of chronic fractionated low-dose gamma irradiation on division potential of human embryonic cells in vitro

The addition of paraquat (methyl viologen) to a growing culture of Escherichia coli K-12 led within 1 hr to a 10- to 20-fold increase in the level of endonuclease IV, a DNase for apurinic/apyrimidinic sites. The induction was blocked by chloramphenicol. Increases of 3-fold or more were also seen with plumbagin, menadione, and phenazine methosulfate. H_2O_2 produced no more than a 2-fold increase in endonuclease IV activity. The following agents had no significant effect: streptonigrin, nitrofurantoin, tert-butyl hydroperoxide, #gamma# rays, 260-nm UV radiation, methyl methanesulfonate, mitomycin C, and ascorbate. Paraquat, plumbagin, menadione, and phenazine methosulfate are known to generate superoxide radical anions via redox cycling in vivo. A mutant lacking superoxide dismutase was unusually sensitive to induction by paraquat. In addition, endonuclease IV could be induced by merely growing the mutant in pure O_2. The levels of endonuclease IV in uninduced or paraquat-treated cells ...

342

Development of a novel mouse tk{sup +/-} embryonic stem cell line for use in mutagenicity studies

We investigated the in vitro phenotypic transformation of human embryo (HE) cells that were repeatedly irradiated (7.5 cGy once a week) throughout their life-span. Irradiation was repeated until the cells had accumulated 195 cGy (equivalent to the 26th passage). Samples of cells were assayed for survival by colony formation, as well as for mutation at the hypoxanthine guanine phosphoribosyl transferase (HGPRT) locus and for transformation by focus formation. The life-span (mean number of population doublings) of multiply irradiated cells with a total dose of 97.5 cGy was slightly but significantly prolonged over that of controls. After HE cells had accumulated 195 cGy, the maximum number of divisions increased to 130-160% of the number in non-irradiated control cells. Transformed foci were not observed until cells had accumulated 97.5 cGy, and then increased with the increasing accumulation of radiation. However, no cells showed immortality or expressed a malignant ...

1991-12-01

343

Current status of a hepatitis C vaccine: encouraging results but significant challenges ahead

A tk{sup +/-} mouse embryonic stem (ES) cell line, designated 1G2, has been created in which one allele of the thymidine kinase (tk) gene was inactivated by targeted homologous recombination. This line is an analog of the mouse lymphoma tk{sup +/-} L5178Y cell line, which is used widely to assess the mutagenicity of chemical agents. Treatment of 1G2 cells with the alkylating agent N-ethyl-N-nitrosourea (ENU) resulted in a dose-related increase in tribluorothymidine-resistant colonies. Mutant frequencies of 152 and 296 per 10{sup 6} cells were determined for 0.1 and 0.3 mg/ml doses of ENU, compared with a spontaneous mutant frequency of 15 per 10{sup 6} cells. The data indicate that tk{sup +/-} 1G2 ES cells may be useful for the creation of a transgenic mouse model for assessing in vivo mutation using an endogenous autosomal gene. 45 refs., 2 figs., 1 tab.

1996-12-31

344

Characterization of mal recombination plasmids cloned in Streptococcus pneumoniae

Persistent hepatitis C virus (HCV) infection affects 170 million people worldwide. Acute HCV infection is often asymptomatic, but many infected individuals develop persistent infections that may lead to development of end-stage liver diseases, including liver cirrhosis and hepatocellular carcinoma. Thus, an HCV vaccine that could significantly lower the chronicity rate would have a major impact on the disease burden. Unfortunately, HCV is a highly mutable virus, and escape mutations can undermine vaccine-induced virus-specific immunity. Also, HCV exists as multiple genotypes, and so genotype-specific vaccines might be required to achieve broad protection. Finally, vaccine development has been hampered by the lack of a small animal model and cell culture systems, but these are currently being established. Despite these obstacles, several vaccine candidates tested in the chimpanzee HCV model have shown some encouraging results.

2007-01-01

345

Antioxidant and toxicity tests of roasted noni (Morinda citrifolia) leaf infusion

The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total cellular protein, and supported the ...

1981-01-01

346

British Library Electronic Table of Contents (United Kingdom)

Summary The antioxidant properties and toxicity profile of roasted noni (Morinda citrifolia L.) leaf infusion were evaluated. The 2,2-diphenylpicrylhydrazyl (DPPH) radical scavenging activity was greater than green tea infusion (81.6 +- 0.9% vs. 57.5 +- 1.8%, P < 0.001). The mean quercetin and kaempferol contents of roasted noni leaf infusion, as prepared by the consumer, were 0.24 +- 0.01 and 0.14 +- 0.01 mg mL-1, respectively. Tannic acid content was 10 +- 1 mg mL-1. The infusion was non-mutagenic in the reverse mutation test in Salmonella typhimurium and did not induce primary DNA damage in E. coli PQ37. Further, no significant primary DNA damage was induced by 5,15-dimethylmorindol, which was the only detectable anthraquinone in noni leaves. The infusion was not cytotoxic in the 24 h b...

2009-01-01

347

Analysis of the 5{prime} region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene

Aging, tumor suppression and cancer: High-wire act!

The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously published PMS2 cDNA sequence lack an upstream in-frame stop codon preceding the presumptive initiating methionine. To evaluate the 5` terminus of the PMS2 coding region further, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5` genomic segment of the PMS2 locus. The PMS2 gene transcripts were found to have heterogeneous but colinear 5` termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5-kDa polypeptide was found to initiate transcriptionally within PMS2 from the opposite strand. 23 refs., 5 figs., 2 tabs.

1995-09-20

348

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma

Evolutionary theory holds that aging is a consequence of the declining force of natural selection with age. We discuss here the evidence that among the causes of aging in complex multicellular organisms, such as mammals, is the antagonistically pleiotropic effects of the cellular responses that protect the organism from cancer. Cancer is relatively rare in young mammals, owing in large measure to the activity of tumor suppressor mechanisms. These mechanisms either protect the genome from damage and/or mutations, or they elicit cellular responses--apoptosis or senescence--that eliminate or prevent the proliferation of somatic cells at risk for neoplastic transformation.We focus here on the senescence response, reviewing its causes, regulation and effects. In addition, we describe recent data that support the idea that both senescence and apoptosis may indeed be the double-edged swords predicted by the evolutionary hypothesis of antagonistic pleiotropy--protecting ...

2004-08-15

349

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...

1995-12-18

350

Resource Management plan for the Oak Ridge Reservation. Volume 28, Wetlands on the Oak Ridge Reservation

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.

1996-06-28

351

Resource Management plan for the Oak Ridge Reservation

A survey of wetlands on the Oak Ridge Reservation (ORR) was conducted in 1990. Wetlands occurring on ORR were identified using National Wetlands Inventory (NWI) maps and field surveys. More than 120 sites were visited and 90 wetlands were identified. Wetland types on ORR included emergent communities in shallow embayments on reservoirs, emergent and aquatic communities in ponds, forested wetland on low ground along major creeks, and wet meadows and marshes associated with streams and seeps. Vascular plant species occurring on sites visited were inventoried, and 57 species were added to the checklist of vascular plants on ORR. Three species listed as rare in Tennessee were discovered on ORR during the wetlands survey. The survey provided an intensive ground truth of the wetlands identified by NWI and offered an indication of wetlands that the NWI remote sensing techniques did not detect.

1991-12-01

352

Plan for addressing issues relating to oil shale plant siting

A survey of wetlands on the Oak Ridge Reservation (ORR) was conducted in 1990. Wetlands occurring on ORR were identified using National Wetlands Inventory (NWI) maps and field surveys. More than 120 sites were visited and 90 wetlands were identified. Wetland types on ORR included emergent communities in shallow embayments on reservoirs, emergent and aquatic communities in ponds, forested wetland on low ground along major creeks, and wet meadows and marshes associated with streams and seeps. Vascular plant species occurring on sites visited were inventoried, and 57 species were added to the checklist of vascular plants on ORR. Three species listed as rare in Tennessee were discovered on ORR during the wetlands survey. The survey provided an intensive ground truth of the wetlands identified by NWI and offered an indication of wetlands that the NWI remote sensing techniques did not detect.

1991-12-01

353

Identification of optimum sites for power system stabilizer applications

The Western Research Institute plan for addressing oil shale plant siting methodology calls for identifying the available resources such as oil shale, water, topography and transportation, and human resources. Restrictions on development are addressed: land ownership, land use, water rights, environment, socioeconomics, culture, health and safety, and other institutional restrictions. Descriptions of the technologies for development of oil shale resources are included. The impacts of oil shale development on the environment, socioeconomic structure, water availability, and other conditions are discussed. Finally, the Western Research Institute plan proposes to integrate these topics to develop a flow chart for oil shale plant siting. Western Research Institute has (1) identified relative topics for shale oil plant siting, (2) surveyed both published and unpublished information, and (3) identified data gaps and research ...

1987-09-01

354

Environmental analysis of endocrine disrupting effects from hydrocarbon contaminants in the ecosystem. 1997 annual progress report

Many existing methods of identifying the optimum sites for installing power system stabilizers (PSSs) in multi-machine systems are restricted to the sequential PSS application, which considers the enhancement of damping of just one critical electromechanical mode at a time; the eigenstructure analysis of the open-loop system, which does not take the control matrix (i.e., the B matrix in the linearized model x = Ax + Bu for power systems) into consideration. This paper presents a method of identifying the optimum sites for installing power system stabilizers. The advantages of this method are: it can identify the optimum sites for installing PSSs so that several electrochemical modes are damped out simultaneously; it takes both the eigenstructure of the open-loop system and the control matrix into consideration.

1990-11-01

355

DNA barcoding as a tool for species identification in three forensic wildlife cases in South Africa

'The overall objective of the basic research grant is to characterize the potential of common hydrocarbon contaminants in ecosystems to act as endocrine disruptors. The three major lines of research include (1) a biotechnology based screening system to identify potential hormone mimics and antagonists; (2) an animal screening system to identify biomarkers of endocrine effects. and (3) a literature review to identify compounds at a variety of DOE sites that need to be examined for endocrine disrupting effects. By relating results obtained from this research project to contamination problems at various DOE sites. CBR will provide data and information on endocrine disrupting contaminants to DOE for consideration in risk analyses for determining clean-up levels and priorities needed at the sites.'

1997-01-01

356

British Library Electronic Table of Contents (United Kingdom)

Poaching of wildlife animals for subsistence and commercial purposes has lead to population declines in Africa. In forensic cases, a need exists to identify the species of origin of carcasses, meat or blood. In the study presented here, the mitochondrial COI gene was sequenced to determine the species of unknown samples in three suspect South African forensic wildlife cases. In two cases the unknown samples were identified as originating from domestic cattle (Bos taurus) and in the third case the sample was identified as common reedbuck (Redunca arundinum). This is the first report of the COI sequence of common reedbuck. The study highlights the need for accurate wildlife reference material from each country in order to convict wildlife cases.

2011-01-01

357

Assessment of coal gasification/hot gas cleanup based advanced gas turbine systems: Greenfield assessment. Final report

Assessment of coal gasification/hot gas cleanup based advanced gas turbine systems: Greenfield assessment

Both the KRW fluidized-bed gasifier and the transport gasifier case studies were used for this assessment. The transport technology is a high-velocity circulating fluidized-bed reactor currently under development by The M.W. Kellogg Company. In the earlier assessment, seven design concepts or cases were identified; a process design was developed; major equipment items were identified; estimates of capital cost, operation and maintenance cost, and cost of electricity were developed; reliability was predicted; and development issues were identified for six studies. Three of the most probable cases were further evaluated for a Greenfield assessment in this report to adequately determine all costs independent of facilities at Plant Wansley.

1991-12-01

358

Application of remote sensing to identify coalfires in the Raniganj Coalbelt, India

Both the KRW fluidized-bed gasifier and the transport gasifier case studies were used for this assessment. The transport technology is a high-velocity circulating fluidized-bed reactor currently under development by The M.W. Kellogg Company. In the earlier assessment, seven design concepts or cases were identified; a process design was developed; major equipment items were identified; estimates of capital cost, operation and maintenance cost, and cost of electricity were developed; reliability was predicted; and development issues were identified for six studies. Three of the most probable cases were further evaluated for a Greenfield assessment in this report to adequately determine all costs independent of facilities at Plant Wansley.

1991-12-01

359

British Library Electronic Table of Contents (United Kingdom)

Raniganj and Jharia regions together have been for long the single largest coal supplier in India, now contributing about a quarter of the total output in the country. Numerous reasons such as improper mining techniques and policy, as well as unauthorized mining caused surface and subsurface coalfires in these areas. These coalfires burn millions of tonnes of valuable coal resources, creating severe environmental problems and posing enormous operational difficulties of mining. After first use of remote sensing as a tool to identify coalfires in 1960s, with the time, the efficiency of remote sensing to identify and monitoring coalfires has been well established by several researchers. With the knowledge of local geological setting and density sliced surface temperature image the spatial dis...

2006-01-01

360

Analysis of organic acids in the pyrohydrolysis distillate of (U,Pu) mixed carbide fuel by ion chromatography

An evaluation of the UK skills base for toxicologists and ecotoxicologists, with focus on current and future requirements, particularly with regard to the skills required for hazard assessment of chemical substances including nanomaterials

The study reports the identification of different organic acids that are formed during the pyrohydrolysis of mixed carbide of uranium and plutonium using ion chromatography (IC). The identification of organic acids present in the pyrohydrolysis distillate is required to carry out interference free analysis of Cl and F. The study describes three stage isocratic separations with NaOH eluents having concentrations 2 mM, 10 mM and 50 mM respectively in order to separate and identify both aliphatic and aromatic acids. The present investigation identified formic, acetic, propionic, butyric, tartaric and oxalic acids in the distillate, however, aromatic acids could not be identified. (author)

2011-02-22

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

361

Environmental Research Database

Objectives1. To establish the present capacity and capability across all the sectors within the UK for - a) Undertaking research in the areas of toxicology and ecotoxicology and environmental hazard and risk assessment work on chemical subtances including emerging containments (e.g. enginerred nanomaterials); and b) Applying these skills in the policy and regulatory context. 2) The range of chemicals involved should include pharmaceutical and medical products, crop protection agents, biocides, vet [continued...]DescriptionThe aim of this project is to identify the current status of the scientific community, areas of expertise, and identify the gaps in skills, knowledge or recruitment. The project will use a questionnaire approach to obtain this information for all sectors of the business community. The analysis will identify the gaps in provision, and areas where investment is needed in future training and/or recruitment.

2009-01-15

362

Workshop to identify critical windows of exposure for children's health: neurobehavioral work group summary.

Variable Pathogenicity Determines Individual Lifespan in Caenorhabditis elegans

This paper summarizes the deliberations of a work group charged with addressing specific questions relevant to risk estimation in developmental neurotoxicology. We focused on eight questions. a) Does...Full Text Available

2000-06-01

363

Validation of the treatment identification strategy of the HEDIS addiction quality measures: concordance with medical record review

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

2011-04-01

364

Using microarrays to identify positional candidate genes for QTL: the case study of ACTH response in pigs

BackgroundStrategies to accurately identify the occurrence of specific health care events in administrative data is central to many quality improvement and research efforts. Many...Full Text Available

365

Using Regulatory and Epistatic Networks to Extend the Findings of a Genome Scan: Identifying the Gene Drivers of Pigmentation in Merino Sheep

BackgroundMicroarray studies can supplement QTL studies by suggesting potential candidate genes in the QTL regions, which by themselves are too large to provide a limited selection...Full Text Available

366

Use of solid state nuclear track detectors for radon concentration measurements indoors

Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino...Full Text Available

367

Uptake of injected 125I-ricin by rat liver in vivo. Subcellular distribution and characterization of the internalized ligand.

An indoor radioactive survey is being conducted in an Italian district. Preliminary results identified a zone with significant radioactive levels, in which a new specific survey has been planned. In this paper attention is dedicated mainly to radon measurement technique and results.

368

Treatment with Selective Serotonin Reuptake Inhibitors and Mirtapazine Results in Differential Brain Activation by Visual Erotic Stimuli in Patients with Major Depressive Disorder

Subcellular-fractionation techniques were used to characterize the endocytic pathway followed by ricin in rat liver in vivo and tentatively identify the site(s) at which the ricin interchain disulphide...Full Text Available

1992-05-15

369

Trauma service cost: the real story.

ObjectiveThe objective of this study was to identify patterns of brain activation elicited by erotic visual stimuli in patients treated with either Selective Serotonin Reuptake Inhibitors...Full Text Available

2009-06-01

370

The feasibility of using pattern recognition software to measure the influence of computer use on the consultation

OBJECTIVE: The objective was to define and characterize the costs associated with trauma care at a level I trauma center. Once the costs were identified, attending physician-led teams were designed...Full Text Available

1998-05-01

371

The Relationship between Leishmaniasis and AIDS: the Second 10 Years

BackgroundA key feature of a good general practice consultation is that it is patient-centred. A number of verbal and non-verbal behaviours have been identified as important to establish...Full Text Available

372

The Mitochondrial Isovaleryl-Coenzyme A Dehydrogenase of Arabidopsis Oxidizes Intermediates of Leucine and Valine Catabolism1

Summary: To date, most Leishmania and human immunodeficiency virus (HIV) coinfection cases reported to WHO come from Southern Europe. Up to the year 2001, nearly 2,000 cases of coinfection were identified,...Full Text Available

2008-04-01

373

The Challenge of Basic Education for All.

We recently identified a cDNA encoding a putative isovaleryl-coenzyme A (CoA) dehydrogenase in Arabidopsis (AtIVD). In animals, this homotetrameric enzyme is located in mitochondria and catalyzes the...Full Text Available

2001-06-01

374

The Arabidopsis ref2 Mutant Is Defective in the Gene Encoding CYP83A1 and Shows Both Phenylpropanoid and Glucosinolate Phenotypes

Clarifies the concept of universal basic education. Highlights the need for performance criteria and ways to measure literacy attainment. Identifies issues related to improving primary education, seeing adult literacy as its necessary complement. Underscores the substantial resources required to achieve universal basic education. (CH)

1988-12-01

375

Terminal-differential algorithm for identification of local non homogeneity in article

The Arabidopsis ref2 mutant was identified in a screen for plants having altered fluorescence under UV light. Characterization of the ref2 mutants showed that they...Full Text Available

2003-01-01

376

Tachyons and the instability of physical systems

Terminal-differential algorithm for identification of local nonhomogeneities in items under control is developed on the basis of measurements of X-ray or gamma-radiation weakening. The algorithm may be applied by developing radiation schemes of nondestructive control, identifying inadmissible inclusions in the object under study

377

Syk Tyrosine Kinase Acts as a Pancreatic Adenocarcinoma Tumor Suppressor by Regulating Cellular Growth and Invasion

The problem on the ratio between the instability of physical systems and tachyons is discussed. It is shown that the tachyons participation in the real physical process of the system rearranging does not contradict any principles. It is noted that the tachyons constitute the most significant element of the systems, identifying the instability relative to the phase transition into the stable state.

378

Swift Science Center - HEASARC - NASA

We have identified the nonreceptor tyrosine kinase syk as a marker of differentiation/tumor suppressor in pancreatic ductal adenocarcinoma (PDAC). Syk expression is lost in poorly differentiated PDAC...Full Text Available

2009-12-01

379

Surfactant protein A, an innate immune factor, is expressed in the vaginal mucosa and is present in vaginal lavage fluid

Apr 20, 2009 ... "YY" is the 2-digit filter identifier .... In our example you can see a point- like optical/UV source in each of the filters at the ... The "sigma" paramter gives the detection threshold in terms of Gaussian sigma. ...

380

Statistical methods for the blood beryllium lymphocyte proliferation test.

Surfactant protein A (SP-A), first identified as a component of the lung surfactant system, is now recognized to be an important contributor to host defence mechanisms. SP-A can facilitate phagocytosis...Full Text Available

2004-01-01

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381

Some design considerations for solar-powered aircraft

The blood beryllium lymphocyte proliferation test (BeLPT) is a modification of the standard lymphocyte proliferation test that is used to identify persons who may have chronic beryllium disease. A major...Full Text Available

1996-10-01

382

Sequential Molecular and Cellular Events during Neoplastic Progression: A Mouse Syngeneic Ovarian Cancer Model1

Performance and operating characteristics are presented for a solar powered aircraft intended to remain aloft for long periods. The critical technologies which limit the performance are identified. By using the techniques presented, the effects of variation in the system parameters are studied. Practical design consideration are discussed.

1980-06-01

383

Self-Medication: Initial Treatments Used by Patients Seen in an Ophthalmologic Emergency Room

AbstractStudies performed to identify early events of ovarian cancer and to establish molecular markers to support early detection and development of chemopreventive regimens have been...Full Text Available

2005-10-01

384

Selection of Inhibitor-Resistant Viral Potassium Channels Identifies a Selectivity Filter Site that Affects Barium and Amantadine Block

OJECTIVEThis study seeks to identify practices of self-medication in the treatment of ocular emergencies. We examine patients’ use of both homemade preparations and manufactured...Full Text Available

2009-08-01

385

Retrospective identification and characterization of mild cognitive impairment from a prospective population cohort

BackgroundUnderstanding the interactions between ion channels and blockers remains an important goal that has implications for delineating the basic mechanisms of ion channel function...Full Text Available

386

Retention, Learning by Doing, and Performance in Emergency Medical Services

ObjectivesMild Cognitive Impairment (MCI) case-finding criteria have low specificity in general population studies. The present study retrospectively identifies cases...Full Text Available

2010-08-01

387

Repeated tumor oximetry to identify therapeutic window during metronomic cyclophosphamide treatment of 9L gliomas

ObjectivesTo examine the strength of the volume–outcome relationship among paramedics, a group of providers that has not been previously studied in this context. By identifying...Full Text Available

2009-06-01

388

Renewable energy and the ODA energy efficient strategy

Malignant gliomas are aggressive and angiogenic tumors with high VEGF content. Consequently, approaches such as metronomic chemotherapy, which have an antiangiogenic effect, are being investigated....Full Text Available

2011-07-01

389

Reduced thermal sensitivity and Nav1.8 and TRPV1 channel expression in sensory neurons of aged mice

The energy strategy of the UK Overseas Development Administration is outlined with specific emphasis on energy efficiency and renewable energies. Based on 29 case studies concerning projects and programmes in both developed and developing countries, critical success factors for renewable energy projects are identified. UK)

1995-12-31

390

Reduced Accumulation of ABA during Water Stress in a Molybdenum Cofactor Mutant of Barley ¹

Sensory neurons in aging mammals undergo changes in anatomy, physiology and gene expression that correlate with reduced sensory perception. In this study we compared young and aged mice to identify...Full Text Available

2006-06-01

391

Radiographic monitoring of incidental abdominal aortic aneurysms: a retrospective population-based cohort study

A barley (Hordeum vulgare L.) mutant (Az34) has been identified with low basal levels of abscisic acid (ABA) and with reduced capacity for producing ABA in response to water stress....Full Text Available

1989-06-01

392

Queensland resources of black coal, December 1988

BackgroundAn abdominal aortic aneurysm (AAA) that is identified when the abdomen is imaged for some other reason is known as an incidental AAA. No population-based studies have...Full Text Available

393

Quality assessment of reporting of randomization, allocation concealment, and blinding in traditional chinese medicine RCTs: A review of 3159 RCTs identified from 260 systematic reviews

This assessment of Queensland's resources of black coal has been prepared by the Coal and Oil Shale Resources Assessment and Development Subprogram, Queensland Department of Mines, in accordance with the 'Code for Reporting of Identified Coal Resources and Reserves'.

1989-01-01

394

Proteomic approach with LCMS-IT-TOF identified an increase of Rab33B after transient focal cerebral ischemia in mice

BackgroundRandomized controlled trials (RCTs) which are of poor quality tend to exaggerate the effect estimate and lead to wrong or misleading conclusions. The aim of this study...Full Text Available

395

Proteome of human colon cancer stem cells: A comparative analysis

BackgroundSeveral proteins are known to be markedly expressed in the brain during cerebral ischemia; however, the changes in protein profiles within the ischemic brain after an ischemic...Full Text Available

396

Prosthesis use in persons with lower- and upper-limb amputation

AIM: To isolate and identify the biological characteristics of human colon cancer stem cells (SW1116 cells) and further study their proteome.METHODS: SW1116 cells were isolated and cultured with...Full Text Available

2011-03-14

397

Proline Betaine Accumulation and Metabolism in Alfalfa Plants under Sodium Chloride Stress. Exploring Its Compartmentalization in Nodules1

This study identified clinical (e.g., etiology) and demographic factors related to prosthesis use in persons with upper- and lower-limb amputation (ULA and LLA, respectively) and the effect...Full Text Available

2008-01-01

398

Progesterone for the prevention of preterm birth: indications, when to initiate, efficacy and safety

The osmoprotectant Pro betaine is the main betaine identified in alfalfa (Medicago sativa). We have investigated the long-term responses of nodulated alfalfa plants to salt stress,...Full Text Available

2004-07-01

399

Predictors of disability in a longitudinal sample of patients with rheumatoid arthritis.

Preterm birth is the leading cause of neonatal mortality and morbidity and long-term disability of non-anomalous infants. Previous studies have identified a prior early spontaneous preterm birth as...Full Text Available

2009-01-01

400

Predicting outcome of rethoracotomy for suspected pericardial tamponade following cardio-thoracic surgery in the intensive care unit

Information from the Health Assessment Questionnaire (HAQ) is used to identify which variables measured in 1981 successfully predict the severity of disease in 1989 and the eight year change in severity...Full Text Available

1992-05-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

401

Potentially Inappropriate Prescribing of Benzodiazepines for Older Adults and Risk of Falls During a Hospital Stay: A Descriptive Study

ObjectivesPericardial tamponade after cardiac surgery is difficult to diagnose, thereby rendering timing of rethoracotomy hard. We aimed at identifying factors predicting the outcome...Full Text Available

402

Polyantigenic Interferon-? Responses Are Associated with Protection from TB among HIV-Infected Adults with Childhood BCG Immunization

Background:Falls have been identified as a potential adverse event associated with the administration of psychotropic medications to older patients.Objective:The...Full Text Available

2009-07-01

403

Patient-Care Practices Associated With an Increased Prevalence Of Hepatitis C Virus Infection among Chronic Hemodialysis Patients

BackgroundSurrogate immunologic markers for natural and vaccine-mediated protection against tuberculosis (TB) have not been identified.MethodsHIV-infected...Full Text Available

404

Online quasi-continuous measurement of organic acids in the atmosphere

ObjectiveTo identify patient-care practices related to an increased prevalence of hepatitis C virus (HCV) infection among chronic hemodialysis patients.Full Text Available

2011-05-01

405

Oil palm (Elaeis guineensis Jacq.) tissue culture ESTs: Identifying genes associated with callogenesis and embryogenesis

The concentration of some organic acids in the atmosphere was determined using a wet effluent diffusion denuder-aerosol collector coupled with Ion Chromatography. Three organic acids and four inorganic anions were identified and quantified in the air sample, taken from the backyard of PSI. (author)

2002-03-01

406

Nuclear Organization and Dynamics of 7SK RNA in Regulating Gene Expression

BackgroundOil palm (Elaeis guineensis Jacq.) is one of the most important oil bearing crops in the world. However, genetic improvement of oil palm through conventional...Full Text Available

407

Novel high-throughput screening system for identifying STAT3-SH2 antagonists

Noncoding RNAs play important roles in various aspects of gene regulation. We have identified 7SK RNA to be enriched in nuclear speckles or interchromatin granule clusters (IGCs), a subnuclear domain...Full Text Available

2010-12-01

408

Nitric Oxide Emissions from Soybean Leaves during in Vivo Nitrate Reductase Assays ¹

Constitutive activation of the oncogenic transcription factor STAT3 frequently occurs in various human malignancies. STAT3 activation involves dimerization via intermolecular pTyr-SH2 interaction. Thus, antagonizing this interaction is a feasible approach to inhibit STAT3 activation for cancer therapy. In order to identify selective STAT3 inhibitors, we developed a biochemical HTS system based on AlphaScreen technology, which measures the abilities of test compounds to antagonize pTyr-SH2 interactions. We screened our chemical libraries using this system and identified 5,15-diphenylporphyrin (5,15-DPP) as a selective STAT3-SH2 antagonist. Selective inhibition of STAT3 nuclear translocation and DNA biding activity was observed in cells treated with 5,15-DPP. IL-6-dependent dimerization of STAT3, c-myc promoter binding and c-myc protein expression were all suppressed by 5,15-DPP, whereas no decrement in either expression or phosphorylation level ...

2009-03-13

409

Multicenter Case-Control Study on Restless Legs Syndrome in Multiple Sclerosis: the REMS Study

Recent work identified acetaldehyde oxime as the predominant product purged by inert gases from anaerobic in vivo nitrate reductase (NR) assays of soybean (Glycine max...Full Text Available

1987-09-01

410

Morphology of inhibitory and excitatory interneurons in superficial laminae of the rat dorsal horn

Study objectives:To verify the existence of a symptomatic form of restless legs syndrome (RLS) secondary to multiple sclerosis (MS) and to identify possible associated risk factors.Design:Prospective,...Full Text Available

2008-07-01

411

Monitoring of NK-Cell Immunotherapy using non-invasive Imaging Modalities

If we are to stand any chance of understanding the circuitry of the superficial dorsal horn, it is imperative that we can identify which classes of interneuron are excitatory and which are inhibitory....Full Text Available

2007-10-15

412

Molecular cloning and nucleotide sequence of the beta-lytic protease gene from Achromobacter lyticus.

Cancer immunotherapies can be guided by cellular imaging techniques, which can identify the presence or absence of immune-cell accumulation in the tumor tissue in-vivo and in real time. This...Full Text Available

2010-08-01

413

Molecular characterization of a mannoprotein with homology to chitin deacetylases that stimulates T cell responses to Cryptococcus neoformans

Two bacteriolytic enzymes secreted by Achromobacter lyticus M497-1 were purified and identified as being very similar (considering their amino acid composition and N-terminal sequence) to alpha- and...Full Text Available

1990-11-01

414

Misclassification of Patients with Spinocerebellar Ataxia as Having Psychogenic Postural Instability Based on Computerized Dynamic Posturography

The fungus Cryptococcus neoformans is a major cause of morbidity and mortality in patients with impaired CD4⁺ T cell function, particularly those with AIDS. To identify...Full Text Available

2001-08-28

415

Milk fever and alert downer cows: Does hypophosphatemia affect the treatment response?

Specific criteria have been developed based on computerized dynamic posturography (CDP) to assist clinicians in identifying patients with psychogenic balance problems (Cyr and Cevette, Full Text Available

416

Measurement of Sexual Functioning After Spinal Cord Injury: Preferred Instruments

The purpose of this prospective cohort study was to identify factors that place a dairy cow with uncomplicated milk fever (MF) at significant risk of becoming an alert downer cow (ADC) and to verify...Full Text Available

2007-05-01

417

Mapping neuropeptide expression by mass spectrometry in single dissected identified neurons from the dorsal ganglion of the nematode Ascaris suum

Background/Objective:To determine the utility of certain instruments to assess sexuality and fertility after SCI, an expert panel identified key areas to study and evaluated...Full Text Available

2009-06-01

418

We have developed a method for dissecting single neurons from the nematode Ascaris suum, in order to determine their peptide content by mass spectrometry (MS). In this paper,...Full Text Available

2010-07-21

419

Manganese

MFR, a Putative Receptor Mediating the Fusion of Macrophages

Sources of manganese are identified. Uptake and distribution of manganese in plants and man are discussed, and the role of manganese in metabolism is described. The epidemiology of manganese toxicity is outlined, permissible air concentrations are listed, and the symptoms of manganese toxicity and deficiency are described. 555 references, 32 tables.

1973-01-01

420

Lymphoma depletion during CD20 immunotherapy in mice is mediated by macrophage Fc?RI, Fc?RIII, and Fc?RIV

We had previously identified a macrophage surface protein whose expression is highly induced, transient, and specific, as it is restricted to actively fusing macrophages in vitro and in vivo. This protein...Full Text Available

1998-11-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

421

Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies

Despite the demonstrated clinical efficacy of CD20 monoclonal antibody (mAb) for lymphoma therapy, the in vivo mechanisms of tumor depletion remain controversial and variable. To identify the molecular...Full Text Available

2008-08-15

422

Light-Dependent Regulation of Cyanobacterial Phytochrome Expression

Recently, genome-wide association studies (GWAS) have linked the human LIN28B locus to height and timing of menarche [1-Full Text Available

2010-07-01

423

Life history plasticity after attaining a dietary threshold for reproduction is associated with protein storage in flesh flies

A histidine kinase protein (Cph1) with sequence homology and spectral characteristics very similar to those of the plant phytochrome has been recently identified in the cyanobacterium Synechocystis...Full Text Available

2000-01-01

424

Lameness, Activity Time-Budgets, and Estrus Expression in Dairy Cattle

SummaryBody condition affects the timing and magnitude of life history transitions. Therefore, identifying proximate mechanisms...Full Text Available

2008-12-01

425

Laboratory Evaluation of Base Materials for Neutralization of the Contaminated Aquifer at the F-Area Seepage Basins

The aim of the present study was to identify specific behavioral patterns that contribute to diminished estrus expression in lame cows. Behavioral scan and focal sampling were used to examine...Full Text Available

2008-12-01

426

Isolation of caprine arthritis encephalitis virus from goats in Mexico.

Laboratory studies were performed to support field-testing of base injection into the F-Area Seepage Basins groundwater. The general purpose of these experiments is to provide information to guide the test of base injection and to identify potential adverse effects.

2001-09-11

427

Isolation and identification of a cobamide coenzyme from the tapeworm Spirometra mansonoides.

A lentivirus was isolated from 2 goats in Mexico that were seropositive to caprine arthritis encephalitis virus (CAEV) by the agar gel immunodiffusion (AGID) test. The lentivirus was identified as CAEV...Full Text Available

1999-07-01

428

In Vivo RNAi Screening Identifies Regulators of Actin Dynamics as Key Determinants of Lymphoma Progression

A light-sensitive vitamin B12 derivative has been extracted from the adult cestode, Spirometra mansonoides. This corrinoid was identified as the cobamide coenzyme, adenosylcobalamin, by its chromatographic, chemical, and spectral properties. PMID:1003284

1976-12-01

429

Improving Knowledge and Attitudes towards Depression: a controlled trial among Chinese medical students

Mouse models have dramatically improved our understanding of cancer development and tumor biology. However, these models have shown limited efficacy as tractable systems for unbiased genetic...Full Text Available

2009-10-01

430

Immunoradiometric measurement of the factor VIII procoagulant antigen.

BackgroundEstablishing an evidence-based method of improving knowledge and attitudes concerning depression has been identified as a priority in Chinese medical education. The purpose...Full Text Available

431

A fluid-phase immunoradiometric assay has been developed which identifies an antigen on the Factor VIII (antihemophilic factor) procoagulant protein. This sensitive and quantitative assay is not influenced...Full Text Available

1978-11-01

432

Identifying barriers to Papanicolaou smear screening in Korean women: Korean National Health and Nutrition Examination Survey 2005

BackgroundA large fraction of the human genome is attributable to L1 retrotransposon sequences. Not only do L1s themselves make up a significant portion of the genome, but L1-encoded...Full Text Available

2003-01-01

433

Identifying and validating biomarkers for Alzheimer's disease

ObjectiveThis study was conducted to provide a nationwide analysis on barriers to cervical cancer screening in Korea.MethodsData used for this study...Full Text Available

2010-06-01

434

Identification of cell cycle-related regulatory motifs using a kernel canonical correlation analysis

The identification and validation of biomarkers for diagnosing Alzheimer's disease (AD) and other forms of dementia are increasingly important. To date, ELISA measurement of β-amyloid(1–42),...Full Text Available

2011-01-01

435

Identification of a Copper-Responsive Two-Component System on the Chromosome of Escherichia coli K-12

BackgroundGene regulation is a key mechanism in higher eukaryotic cellular processes. One of the major challenges in gene regulation studies is to identify regulators affecting the...Full Text Available

436

Identification and mobilization by cointegrate formation of a nodulation plasmid in Rhizobium trifolii.

Using a genetic screen we have identified two chromosomal genes, cusRS (ylcA ybcZ), from Escherichia coli K-12 that encode a two-component, signal...Full Text Available

2000-10-01

437

High-Risk Populations Identified in Childhood Cancer Survivor Study Investigations: Implications for Risk-Based Surveillance

A nodulation plasmid, pRtr-514a, of molecular size 180 megadaltons (Mdal) was identified in Rhizobium trifolii strain NZP514. This plasmid was absent in both spontaneous and heat-cured Nod- derivatives...Full Text Available

1982-07-01

438

High affinity of lead for fetal haemoglobin.

Childhood cancer survivors often experience complications related to cancer and its treatment that may adversely affect quality of life and increase the risk of premature death. The purpose of this...Full Text Available

2009-05-10

439

Heritability of Measures of Kidney Disease Among Zuni Indians: The Zuni Kidney Project

In-vitro experiments using 203Pb were performed to identify lead-binding components in human haemoglobin. Sephadex A-50 ion-exchange chromatography of haemolysate showed that different types of haemoglobin...Full Text Available

1980-08-01

440

Health professionals rarely record history of complementary and alternative medicines

BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available

2010-08-01

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441

Half-trek criterion for generic identifiability of linear structural equation models

AimsTo identify the completeness of documentation of Complementary And Alternative Medicine (CAM) use in hospital medical records of patients before and after an education programme.Full Text Available

2005-02-01

442

Granite Countertops and Radiation | Radiation Protection | US EPA

A linear structural equation model relates random variables of interest and corresponding Gaussian noise terms via a linear equation system. Each such model can be represented by a mixed graph in which directed edges encode the linear equations, and bidirected edges indicate possible correlations among noise terms. We study parameter identifiability in these models, that is, we ask for conditions that ensure that the edge coefficients and correlations appearing in a linear structural equation model can be uniquely recovered from the covariance matrix of the associated normal distribution. We treat the case of generic identifiability, where unique recovery is possible for almost every choice of parameters. We give a new graphical criterion that is sufficient for generic identifiability. It improves criteria from prior work and does not require the directed part of the graph to be acyclic. We also develop a related necessary ...

2011-01-01

443

Genome-Wide Identification and Evolutionary Analysis of the Animal Specific ETS Transcription Factor Family

... Top of page Testing Radiation coming from granite countertops results from natural radioactive material in the granite. Identifying the presence and concentration of radioactive elements in granite requires expensive and sophisticated portable instruments or laboratory equipment. These instruments and equipment require proper calibration, and interpretation of ...

444

Genetic architecture of voluntary exercise in an advanced intercross line of mice

The ETS proteins are a family of transcription factors (TFs) that regulate a variety of biological processes. We made genome-wide analyses to explore the classification of the ETS gene family. We identified...Full Text Available

445

Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease

Exercise is essential for health, yet the amount, duration, and intensity that individuals engage in are strikingly variable, even under prescription. Our focus was to identify the locations and effects...Full Text Available

2010-07-01

446

Fast, Scalable, Bayesian Spike Identification for Multi-Electrode Arrays

Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available

447

Factors governing the periodic activation of supraoptic and paraventricular neurosecretory cells during suckling in the rat.

We present an algorithm to identify individual neural spikes observed on high-density multi-electrode arrays (MEAs). Our method can distinguish large numbers of distinct neural units, even when spikes...Full Text Available

448

Expression and purification of a functional human hepatitis B virus polymerase

1. One hundred and thirty-two antidromically identified paraventricular (PV) and supraoptic (SO) neurones were studied during milk ejection evoked by the suckling of the young, in thirty-four lactating...Full Text Available

1975-09-01

449

Expression and Trans-Specific Polymorphism of Self-Incompatibility RNases in Coffea (Rubiaceae)

AIM: To identify a method for efficient large-scale purification of functional hepatitis B virus polymerase (HBV-Pol) without addition of cellular factors.METHODS: Full-length HBV-Pol (843 amino...Full Text Available

2010-12-07

450

Evaluation of the OptiMAL Test for Rapid Diagnosis of Plasmodium vivax and Plasmodium falciparum Malaria

Self-incompatibility (SI) is widespread in the angiosperms, but identifying the biochemical components of SI mechanisms has proven to be difficult in most lineages. Coffea (coffee;...Full Text Available

451

Evaluation of Acyl Coenzyme A Oxidase (Aox) Isozyme Function in the n-Alkane-Assimilating Yeast Yarrowia lipolytica

The development of rapid and specific diagnostic tests to identify individuals infected with malaria is of paramount importance in efforts to control the severe public health impact of this disease....Full Text Available

1998-01-01

452

Evaluating the Involvement of Alternative Sigma Factors SigF and SigG in Clostridium perfringens Sporulation and Enterotoxin Synthesis?

We have identified five acyl coenzyme A (CoA) oxidase isozymes (Aox1 through Aox5) in the n-alkane-assimilating yeast Yarrowia lipolytica, encoded by the POX1...Full Text Available

1999-09-01

453

Establishment of an Immunoglobulin M Antibody-Forming Cell Response Model for Characterizing Immunotoxicity in Primary Human B Cells

Clostridium perfringens type A food poisoning is the second most commonly identified bacterial food-borne illness. Sporulation contributes to this disease in two ways: (i) most food-poisoning...Full Text Available

2010-10-01

454

Energy Performance Contracting for New Buildings

Rodent models have been extensively utilized to identify putative human immunotoxicants; however, even when immunotoxicity is established, uncertainty remains whether the effects are predictive of human...Full Text Available

2009-12-01

455

Employing Kirkpatrick's Evaluation Framework to Determine the Effectiveness of Health Information Management Courses and Programs

situ by isolating portions of the building envelope and performing tests .MAXIMUM ALLOWED LOAD ...and shall identify commissioning team members who will perform testing and prepare documentation.The commissioning agent may be

456

Distribution of lead-203 in human peripheral blood in vitro.

Evaluation of the impact and effectiveness of courses is necessary so that strengths and weaknesses can be identified and improvements made. This article uses Kirkpatrick's evaluation framework to present...Full Text Available

457

Developing IT Infrastructure for Rural Hospitals: A Case Study of Benefits and Challenges of Hospital-to-Hospital Partnerships

In-vitro experiments using 203Pb were performed to identify the lead binding components in human peripheral blood. The distribution of lead in plasma, in the red cell membrane, and within the red cell...Full Text Available

1980-02-01

458

Deep Desulfurization of Diesel Oil and Crude Oils by a Newly Isolated Rhodococcus erythropolis Strain

This article presents a study identifying benefits and challenges of a novel hospital-to-hospital information technology (IT) outsourcing partnership (HHP). The partnership is an innovative response...Full Text Available

2008-07-01

459

DNA replication in vertebrates requires a homolog of the Cdc7 protein kinase

The soil-isolated strain XP was identified as Rhodococcus erythropolis. R. erythropolis XP could efficiently desulfurize benzonaphthothiophene, a complicated model sulfur compound that...Full Text Available

2006-01-01

460

Coryneform bacteria in infectious diseases: clinical and laboratory aspects.

CDC7 is an essential gene required for DNA replication in Saccharomyces cerevisiae. Cdc7p homologs have recently been identified in vertebrates, but their role in DNA...Full Text Available

1999-03-16

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461

Confirmation of human Campylobacter concisus isolates misidentified as Campylobacter mucosalis and suggestions for improved differentiation between the two species.

Coryneform isolates from clinical specimens frequently cannot be identified by either reference laboratories or research laboratories. Many of these organisms are skin flora that belong to a large number...Full Text Available

1990-07-01

462

Comparison of Different Measures of Urinary Protein Excretion for Prediction of Renal Events

A strain from human diarrhea originally identified as Campylobacter mucosalis (NCTC 12408) was examined by using 64 phenotypic characters. The similarity of this strain to 297 isolates of Campylobacter,...Full Text Available

1994-09-01

463

Comparative analysis of cis-regulation following stroke and seizures in subspaces of conserved eigensystems

There are many methods to screen for abnormal amounts of proteinuria to identify patients at risk for progression of renal disease, but which method best predicts renal risk is unknown. Here, we analyzed...Full Text Available

2010-08-01

464

Coal to liquids technology (Overview - Research)

BackgroundIt is often desirable to separate effects of different regulators on gene expression, or to identify effects of the same regulator across several systems. Here, we focus...Full Text Available

465

Clinical Correlates to Laboratory Measures for use in Non-Contact Anterior Cruciate Ligament Injury Risk Prediction Algorithm

... After completing a review into direct coal liquefaction research carried out in Australia and internationally, CSIRO has identified potential new science and technology developments that may improve the cost and viability of CTL in a greenhouse gas-constrained environment. We are conducting research to: determine the optimum ...

466

Climate Change, Genetics or Human Choice: Why Were the Shells of Mankind's Earliest Ornament Larger in the Pleistocene Than in the Holocene?

BackgroundProspective measures of high knee abduction moment during landing identify female athletes at high risk for non-contact anterior cruciate ligament injury....Full Text Available

2010-08-01

467

Characterization of Two Unique Cholesterol-Rich Lipid Particles Isolated from Human Atherosclerotic Lesions

BackgroundThe southern African tick shell, Nassarius kraussianus (Dunker, 1846), has been identified as being the earliest known ornamental object used by human...Full Text Available

468

Central gating of fly optomotor response

The authors' laboratory, using histochemicalmethods, previously identified two types of cholesterol-containing lipid particles in the extracellular spaces of human atherosclerotic lesions, one particle...Full Text Available

1990-01-01

469

Carpal Tunnel Syndrome and Peripheral Polyneuropathy in Patients with End Stage Kidney Disease

We study the integration of multisensory and central input at the level of an identified fly motoneuron, the ventral cervical nerve motoneuron (VCNM) cell, which controls head movements of the animal....Full Text Available

2010-11-16

470

Cancer in young people in the north of England, 1968-85: analysis by census wards.

This study was designed to identify the causes of the development of carpal tunnel syndrome (CTS) associated with end stage kidney disease (ESKD). A total of 112 patients with ESKD, 64 on hemodialysis...Full Text Available

2011-09-01

471

CD133 Positive Embryonal Rhabdomyosarcoma Stem-Like Cell Population Is Enriched in Rhabdospheres

OBJECTIVE--To determine whether the seeming excess of childhood leukaemia and lymphoma identified in Seascale, Cumbria, UK, remains unusual when put into a wider context. DESIGN--Analysis of cancer...Full Text Available

1993-04-01

472

Burnout sensitivity of power MOSFETs operating in a switching converter

Cancer stem cells (CSCs) have been identified in a number of solid tumors, but not yet in rhabdomyosarcoma (RMS), the most frequently occurring soft tissue tumor in childhood. Hence, the aim of this...Full Text Available

473

Boron Tolerance in Barley Is Mediated by Efflux of Boron from the Roots1

Heavy ion tests of a switching converter using power MOSFETs have allowed us to identify the main parameters which affect the burnout sensitivity of these components. The differences between static and dynamic conditions are clarified in this paper. (author). 7 refs., 16 figs., 3 tabs.

474

Biomarkers Signal Contaminant Effects on the Organs of English Sole (Parophrys vetulus) from Puget Sound

Many plants are known to reduce the toxic effects of high soil boron (B) by reducing uptake of B, but no mechanism for limiting uptake has previously been identified. The B-tolerant cultivar of barley...Full Text Available

2004-10-01

475

Biochemical analysis of PIFTC3, the Trypanosoma brucei ortholog of nematode DYF-13, reveals interactions with established and putative intraflagellar transport components

Fish living in contaminated environments accumulate toxic chemicals in their tissues. Biomarkers are needed to identify the resulting health effects, particularly focusing on early changes at a subcellular...Full Text Available

2006-06-01

476

Bacterial response to siderophore and quorum-sensing chemical signals in the seawater microbial community

DYF-13, originally identified in C. elegans within a collection of dye-filling chemosensory mutants, is one of several proteins that have been classified as putatively involved...Full Text Available

2010-10-01

477

Bacterial glycolipids and analogs as antigens for CD1d-restricted NKT cells

BackgroundOceans are iron-deficient and nutrient-poor environments. These conditions impart limitations on our understanding of and our ability to identify microorganisms from the...Full Text Available

478

Bacterial Competition for Human Nasal Cavity Colonization: Role of Staphylococcal agr Alleles

The CD1 family of proteins binds self and foreign glycolipids for presentation to CD1-restricted T cells. To identify previously uncharacterized active CD1 ligands, especially those of microbial origin,...Full Text Available

2005-02-01

479

Autophosphorylation Within the Atg1 Activation Loop Is Required for Both Kinase Activity and the Induction of Autophagy in Saccharomyces cerevisiae

We examined the bacterial aerobic nasal flora of 216 healthy volunteers to identify potential competitive interactions among different species, with special emphasis on the influence of staphylococcal...Full Text Available

2003-01-01

480

Associations between dairy production indices and lipoarabinomannan enzyme-immunoassay results for paratuberculosis.

Autophagy is an evolutionarily conserved degradative pathway that has been implicated in a number of physiological events important for human health. This process was originally identified as a response...Full Text Available

2010-07-01

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481

Association of serum markers with improvement in clinical response measures after treatment with golimumab in patients with active rheumatoid arthritis despite receiving methotrexate: results from the GO-FORWARD study

Data from an epidemiological study in Ontario, involving 304 dairy herds, were used to identify associations between selected production indices and lipoarabinomannan antigen serological test results...Full Text Available

1991-10-01

482

Army energy plan. Technical report

IntroductionThe goal of this study was to identify serum markers that are modulated by treatment with golimumab with or without methotrexate (MTX) and are associated with clinical...Full Text Available

2010-01-01

483

Anti-inflammatory effects of liquiritigenin as a consequence of the inhibition of NF-?B-dependent iNOS and proinflammatory cytokines production

The Plan identifies the Army's organization, goals, objectives, and policies with respect to energy. It projects energy consumption and costs to the year 2000 and summarizes the programs required to support the long range goals. A summary of current and needed energy related legislation is included. (Author)

1978-02-24

484

Analysis of target cell susceptibility as a basis for the development of a chemoprotective strategy against benzene-induced hematotoxicities.

Background and purpose:Glycyrrhizae radix has been widely used as a cytoprotective, plant-derived medicine. We have identified a flavanoid, liquiritigenin, as an...Full Text Available

2008-05-01

485

Analysis of Failed Spinal Cord Stimulation Trials in the Treatment of Intractable Chronic Pain

A goal of our research is to identify biochemical factors that underlie the susceptibility of bone marrow cell populations to benzene metabolites so as to develop a mechanistically based chemoprotective...Full Text Available

1996-12-01

486

An integrative multi-dimensional genetic and epigenetic strategy to identify aberrant genes and pathways in cancer

ObjectiveThe purpose of this study is to identify the factors affecting the failure of trials (<50% pain reduction in pain for trial period) to improve success rate of spinal...Full Text Available

2008-02-01

487

An Intrinsic Neuronal Oscillator Underlies Dopaminergic Neuron Bursting

BackgroundGenomics has substantially changed our approach to cancer research. Gene expression profiling, for example, has been utilized to delineate subtypes of cancer, and facilitated...Full Text Available

488

Amazon.com: Customer Reviews: Womenomics: Write Your Own Rules for Success

Dopaminergic neurons of the ventral midbrain fire high frequency bursts when animals are presented with unexpected rewards, or stimuli that predict reward. To identify the afferents that can...Full Text Available

2009-12-16

489

Alcohol and the fetus in the west of Scotland.

...Own Rules for Success (Hardcover) The authors have rightly identified that there is a growing demand for, trend towards, and interest in guidance for creating flexible working arrangements. However, for $27.99, you can secure more concrete advice on reaching your \\

490

ATG12 Conjugation to ATG3 Regulates Mitochondrial Homeostasis and Cell Death

Forty children with the fetal alcohol syndrome were identified in the west of Scotland. All were growth retarded and had abnormal facial features, and all those who were tested were found to have neurological...Full Text Available

1983-07-02

491

A Novel Mouse Model of Red Blood Cell Storage and Post-Transfusion in Vivo Survival

SUMMARYATG12, an ubiquitin-like modifier required for macroautophagy, has a single known conjugation target, another autophagy regulator called ATG5. Here, we identify ATG3 as...Full Text Available

2010-08-20

492

A NEW APPROACH TO UNDERSTANDING THE MOLECULAR MECHANISMS THROUGH WHICH ESTROGENS AFFECT COGNITION

BackgroundStorage of RBCs is necessary for an adequate blood supply. However, reports have identified potential negative sequelae of transfusing stored RBCs. An animal...Full Text Available

2009-08-01

493

A Humanin Derivative Reduces Amyloid Beta Accumulation and Ameliorates Memory Deficit in Triple Transgenic Mice

Traditional approaches to the study of hormones and cognition have been primarily observational or correlational in nature. Because this work does not permit causal relationships to be identified,...Full Text Available

2010-10-01

494

A Hemorrhagic Factor (Apicidin) Produced by Toxic Fusarium Isolates from Soybean Seeds

Humanin (HN), a 24-residue peptide, was identified as a novel neuroprotective factor and shows anti-cell death activity against a wide spectrum of Alzheimer's disease (AD)-related cytotoxicities, including...Full Text Available

495

A Disordered Eating Response Team's Effect on Nutrition Practices in College Athletes

Fifty-two isolates of Fusarium species were obtained from soybean seeds from various parts of Korea and identified as Fusarium oxysporum, F. moniliforme,...Full Text Available

1999-01-01

496

A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression

The disordered eating response team developed a protocol for assessment and intervention for athletes who are identified as at risk for disordered eating. Team members included the team physician,...Full Text Available

1995-10-01

497

A Comparison of intra-oral digital imaging modalities: Charged Couple Device versus Storage Phosphor Plate

Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics...Full Text Available

2009-12-11

498

45 CFR 1175.110 - Self-evaluation.

BackgroundThis in vitro study was conducted to compare the accuracy of two digital image receptors in identifying the location of tip of a fine endodontic file and radiographic apex...Full Text Available

2010-11-01

499

¹H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis

...shall, until three years following the completion of the self-evaluation, maintain on file and make available for public inspections: (1) A description of areas examined and any problems identified, and (2) A description of any...

2010-10-01

500