gebhart/patrepeval huggingface dataset:
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome (2015)

The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.
Effects of bismuth on wide-depletion-width GaInNAs solar cells (2008)

GaInNAs solar cells could be useful in next-generation multijunction solar cells if issues surrounding low photocurrents and photovoltages are surmounted. Wide-depletion-width devices generate significant photocurrent using a p-i-n structure grown by molecular beam epitaxy, but these depletion widths are only realized in a region of parameter space that leads to rough surface morphologies. Here, bismuth is explored as a surfactant for the growth of GaInNAs solar cells. Very low fluxes of Bi are effective at maintaining smooth surfaces, even at high growth temperatures and In contents. However, Bi also increases the net donor concentration in these materials, manifested in our n-on-p device structures as a pn-junction that moves deeper into the base layer with increasing Bi fluxes. Quantum efficiency modeling and scanning kelvin probe microscopy measurements confirm the type conversion of the base layer from p type to n type. Bi incorporation in GaAsBi samples shows signs of surface segregation, leading to a finite buildup time, and this effect may lead to slow changes in the electrical properties of the GaInNAs(Bi) devices. Bi also appears to create a defect level, although this defect level is not deleterious enough to increase the dark current in the devices.
TECNOLOGIA E TERRITÓRIO NA PERIFERIA DO CAPITALISMO MUNDIALIZADO: TENTATIVA DE DESCONSTRUÇÃO DA VISÃO HEGEMÔNICA DE C&T NO BRASIL (2011)

O tema desta intervencao sao os multiplos aspectos relativos a territorialidade do processo de acumulacao que teve lugar no Brasil, dos anos 1980 aos anos 2000, a partir de seu desenvolvimento cientifico e tecnologico. Trata-se de desvelar as relacoes entre ciencia e tecnologia (C&T), dinâmica do desenvolvimento economico e desigualdades socio-espaciais. Portanto, o principal objetivo e examinar a relacao entre desenvolvimento cientifico e tecnologico, desenvolvimento economico e desenvolvimento social no Brasil no periodo recente. Para tanto, busca-se analisar indicadores selecionados do desenvolvimento brasileiro e verificar como eles se manifestam no territorio. Parte-se da hipotese de que as politicas de C&T adotadas no Brasil no periodo recente, assim como a atuacao dos sujeitos e instituicoes que produzem e consomem C&T (e, assim, informam as politicas adotadas) condicionam o processo de desenvolvimento socioeconomico e sua configuracao geografica.
Identification of a Ganglioside Recognition Domain of Tetanus Toxin Using a Novel Ganglioside Photoaffinity Ligand (1997)

Tetanus toxin entry into vertebrate motorneurons may involve binding of neuronal surface gangliosides containing the "1b" substructure (a NeuAcalpha2,8NeuAc group on an internal galactose residue). The domains of tetanus toxin involved in ganglioside binding are known to reside within the carboxyl-terminal half of the toxin's heavy chain ("C fragment"). We developed a novel photoaffinity reagent based upon the structure of the 1b ganglioside GD1b (125I-azido-GD1b) to define the ganglioside-binding domains of tetanus toxin. Using this ligand, we observed radiolabeling of tetanus toxin C fragment which could be specifically inhibited by a ganglioside of the 1b series (GT1b), but not by a non-1b series ganglioside (GM3). When tetanus toxin C fragment was proteolyzed with clostripain, whether before or after reaction with 125I-azido-GD1b, a radiolabeled band was observed by SDS-polyacrylamide gel electrophoresis autoradiography, which was selectively inhibited by GT1b. Protein sequencing of proteolyzed tetanus toxin C fragment co-migrating with that band revealed the carboxyl-terminal 34 amino acid residues of tetanus toxin. Matrix-assisted laser desorption/ionization mass spectrometry of a photoaffinity labeled synthetic polypeptide representing the 34-amino acid domain revealed modification at a single residue (His1293). We propose that this domain of tetanus toxin is sufficient for ganglioside binding.
Characterization and Modeling of Metallocene-Based Branch−Block Copolymers (2002)

The nature of polyolefin branch−block copolymers produced using mixed-metallocene catalysts has been further characterized in an attempt to relate polymer microstructure to properties. These copolymers were synthesized by incorporating vinyl-terminated, crystallizable macromonomers into amorphous backbones. It was shown that polymer properties depended strongly on the fine details of the polymerization procedure (sequential or ex-situ vs simultaneous or in-situ). Here we present rheological, chromatographic, and thermal data along with polymerization kinetic model simulations to interpret the observed property differences between ex-situ and in-situ produced polymers.
Photoactivation and photocontrolled release of bioactive materials. (1989)

Photoresponsive systems are widespread in nature, and life processes such as photosynthesis, vision, phototropism, and phototaxis are linked with structural changes of molecules caused by sunlight. Similar photochemical transformations can be employed to render synthetic agrochemicals and drugs active or to govern their bioavailability at the site of action. Related fundamental physical and chemical processes are discussed as part of the introductory paragraph. In agrochemical applications mainly three different ways have been reported as to how light can be utilized to optimize pesticidal effects in crop protection. The hypersensitization of certain pests to sunlight by chemical compounds represents an effective approach and exists also as a natural mechanism of defense. Photo-removable protective groups and various photoreactive structural moieties have successfully been applied for the rational design of light-activated propesticides. Finally, daylight can function as a triggering and governing factor in controlled-release systems based on photoresponsive polymers. Among the major advantages of light-regulated pesticides, the target-directed activation and the inherent detoxification predominate. In biomedical applications, light has also been used to activate compounds to time their action. Although radiation of various types (microwave, X-ray, and gamma radiation) has been used extensively for both treatment and diagnostics, the limited access of UV and visible light to most tissues of the body prevents its general use as the activating trigger. We review here three areas only: cutaneous photobiology-related applications; photoaffinity labeling; and porphyrins as therapeutic agents.
The prognostic significance of immunohistochemically detected p53 protein expression in non-small cell lung cancer treated with radiation therapy. (1999)

The prognostic significance of nuclear p53 protein expression in survival and local control was investigated immunohistochemically in 36 patients with inoperable or unresectable non-small cell lung cancer who were treated with radiation therapy (RT). Formalin-fixed, paraffin-embedded sections obtained by bronchoscopy were used to examine the expression of nuclear p53 protein with immunohistochemistry. In 25 cases (69%), p53 protein expression was detected. There was no relation between p53 expression and other pretreatment characteristics. Response to RT was found in all p-53 negative cases versus 72% in p53-positive cases (p < 0.05). The 2-year survival rate for p53-negative cases was 51% with a median survival time of 21 months. The corresponding rate for p53-positive cases was 31% with a median survival time of 9 months. This difference, however, did not reach a statistically significant level because of the small sample size. In conclusion, the results of this study suggest that p53 protein expression may be of predictive value on response to RT in non-small cell lung cancer.
Increased protein aggregation in Zucker Diabetic Fatty rat brain: identification of key mechanistic targets and the therapeutic application of hydrogen sulfide (2014)

Our data demonstrate increased protein synthesis and aggregation in the diabetic ZDF rat brain, which was reversible by NaHS treatment.This is the first report on the potential use of NaHS as a novel strategy against protein aggregation in diabetic brain.
Efficient Mono‐ and Bifunctionalization of Polyolefin Dendrimers by Olefin Metathesis (2005)

Star- and dendritic-shaped polyolefins can be cleanly and stereospecifically mono- or bifunctionalized by catalytic cross olefin metathesis. Furthermore, this approach provides a rapid overall synthesis of water-soluble dendrimers (see picture) from simple polymethylbenzenes, such as mesitylene and hexamethylbenzene. Supporting information for this article is available on the WWW under http://www.wiley-vch.de/contents/jc_2002/2005/z502848_s.pdf or from the author. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Semliki Forest Virus-specific Non-structural Protein nsP3 Is a Phosphoprotein (1988)

Antisera were raised in rabbits against fusion proteins consisting of beta-galactosidase and partial amino acid sequences of Semliki Forest virus (SFV)-specific non-structural proteins nsP1, nsP2, nsP3 and nsP4. The antisera were specific since each of them precipitated only one labelled protein of a size expected for nsP1, nsP2, nsP3 or nsP4 from lysates of [35S]methionine-labelled SFV-infected BHK-21 cells. The specific antisera also precipitated p220 (with sequences of nsP1, nsP2 and nsP3), p155 (nsP1 and nsP2) and p135 (nsP3 and nsP4) which have been previously shown to be cleavage products of the polyprotein precursor of the non-structural proteins. nsP1, nsP4 and most of nsP3, together with the virus-specific RNA polymerase activity, were in the mitochondrial pellet (P15) fraction of infected BHK-21 cells whereas nsP2 was evenly distributed between P15 and the supernatant fraction (S15). Only antisera directed against nsP3 sequences precipitated a labelled protein from cells incubated with [32P]orthophosphate during SFV infection. Treatment of the immunoprecipitate with calf alkaline intestinal phosphatase reduced the amount of labelled nsP3 considerably. Immunoprecipitated 32P-labelled nsP3, isolated by SDS-PAGE, was subjected to acid hydrolysis. Both phosphoserine and phosphothreonine but not phosphotyrosine could be identified in the hydrolysate. Approximately twice as much [32P]serine as [32P]threonine was detected in nsP3. P15 and S15 fractions were prepared from [35S]methionine- and 32P-labelled SFV-infected cells and the 35S/32P ratio of nsP3 was determined after immunoprecipitation and SDS-PAGE. The nsP3 in S15 was less heavily phosphorylated (about 50%) than P15-associated nsP3. Anti-nsP3 serum revealed large cytoplasmic vesicles in SFV-infected cells in indirect immunofluorescence microscopy.
Poor transduction efficiency of human hematopoietic progenitor cells by a high-titer amphotropic retrovirus producer cell clone (1994)

The transduction efficiency of human bone marrow CD34+ cells with supernatants from the retrovirus producer cell clone PA317/LGSN 16 was only one-fifth of that with supernatants from GP+ envAm12/LGSN 15, even though both producers had similar infection titers on 3T3 cells. PA317/LGSN 16-conditioned medium inhibited the proliferation of the bone marrow CD34+ cells, and this inhibitory effect was partially blocked by anti-transforming growth factor beta antibodies. These studies suggest that cytokine secretion plays a role in the suppression of retrovirus transduction of human CD34+ cells.
Oxidative Stress-induced Apoptosis in Retinal Photoreceptor Cells Is Mediated by Calpains and Caspases and Blocked by the Oxygen Radical Scavenger CR-6 (2004)

A critical role for reactive oxygen species (ROS) in photoreceptor apoptosis has been established. However, the exact molecular mechanisms triggered by oxidative stress in photoreceptor cell death remain undefined. This study delineates the molecular events that occur after treatment of the photoreceptor cell line 661W with the nitric oxide donor sodium nitroprusside (SNP). Cytosolic calcium levels increased during photoreceptor apoptosis, leading to activation of the calcium-dependent proteases calpains. Furthermore, caspase activation also occurred following SNP insult. However, although treatment with the pan-caspase inhibitor benzyloxycarbonyl-Val-Ala-Asp fluoromethyl ketone inhibited caspase activity per se in SNP-treated 661W cells, it did not prevent apoptosis. On the other hand, CR-6 (3,4-dihydro-6-hydroxy-7-methoxy-2,2-dimethyl-1(2H)-benzopyran) acted as a scavenger of ROS and reduced 661W photoreceptor apoptosis induced by SNP by preventing the activation of a pathway in which calpains have a key role. In summary, we report for the first time that both caspases and calpains are involved in 661W photoreceptor apoptosis and that calpain activation can be prevented by the ROS scavenger CR-6.
Tin-Free, Radical-Mediated γ-Alkylations of α,β-Unsaturated Esters via O-tert-Alkyl Dienol Ethers (2007)

Tin-free, radical-mediated γ-alkylation of α,β-unsaturated esters is accomplished by radical addition and β-fragmentation of O-tert-alkyl dienol ethers and subsequent iodine atom transfer process.
Structure-Based Discovery of Inhibitors of Thymidylate Synthase (1993)

A molecular docking computer program (DOCK) was used to screen the Fine Chemical Directory, a database of commercially available compounds, for molecules that are complementary to thymidylate synthase (TS), a chemotherapeutic target. Besides retrieving the substrate and several known inhibitors, DOCK proposed putative inhibitors previously unknown to bind to the enzyme. Three of these compounds inhibited Lactobacillus casei TS at submillimolar concentrations. One of these inhibitors, sulisobenzone, crystallized with TS in two configurations that differed from the DOCK-favored geometry: a counterion was bound in the substrate site, which resulted in a 6 to 9 angstrom displacement of the inhibitor. The structure of the complexes suggested another binding region in the active site that could be exploited. This region was probed with molecules sterically similar to sulisobenzone, which led to the identification of a family of phenolphthalein analogs that inhibit TS in the 1 to 30 micromolar range. These inhibitors do not resemble the substrates of the enzyme. A crystal structure of phenolphthalein with TS shows that it binds in the target site in a configuration that resembles the one suggested by DOCK.
Transgenic rabbit models for the study of atherosclerosis (1997)

The rabbit rapidly develops severe hypercholesterolemia leading to premature atherosclerosis in response to dietary manipulation. Transgenic rabbit models with altered expression of specific genes will provide new approaches to understanding the underlying mechanisms that contribute to this disease. Recently established lines of transgenic rabbits that overexpress hepatic lipase and apolipoprotein E are yielding fresh insights into the functions of these proteins and their role in lesion development
Selective events in the metastatic process defined by analysis of the sequential dissemination of subpopulations of a mouse mammary tumor. (1992)

To identify selective steps in metastasis, those that eliminate nonmetastatic tumor cells more efficiently than metastatic cells, we have evaluated the sequential dissemination of tumor cells from a mammary fatpad, using both metastatic (4T1 and 66cl4) and nonmetastatic (67NR, 168FARN, and 4TO7) subpopulations of a single mouse mammary tumor. Each of these variant subpopulations is resistant to one or more selective drugs so they could be quantitatively identified by colony formation in selective media. We found that the 2 metastatic cell lines metastasized by different routes and that the nonmetastatic tumor cell lines failed at different points in dissemination. Line 67NR did not leave the primary site; clonogenic tumor cells were not detected in the nodes, blood, or lungs during the experiment (7 weeks). Tumor line 168FARN disseminated from the primary tumor because clonogenic cells were cultured from the draining lymph nodes throughout the experiment. However, dissemination essentially stopped in the node as cells were rarely isolated from blood, lungs, or lives. Whether 168FARN cells failed to reach these tissues or were killed very rapidly after traversing the lymph node is unknown. Line 4TO7 cells disseminated via the blood and were consistently recovered from lungs by day 19 but failed to proliferate. This panel of 5 subpopulations thus identifies different points of selective failure in tumor cell dissemination and should be valuable in the assessment of antimetastatic therapies.
Water Pollution Control: A Guide to the Use of Water Quality Management Principles (1998)

Policy and Principles. Water Quality Requirments. Technology Selection. Wastewater as a Resource. Legal and Regulatory Instruments. Economic Instruments. Financing Wastewater Management. Institutional Arrangements. Information Systems. Framework for Water Pollution Control. The Ganga, India. Shanghai Huangpu River, China. The Pasig River, Phillipines. Nigeria. The Witbank Dam Catchment. The Upper Tiete Basin, Brazil. The Mezquital Valley, Mexico. Lerma-Chapala Basin, Mexico. The Danube Basin. Moscow Region, Russia. Cyprus. Kingdom of Jordan. Sana'a, Yemen.
Results of the first-in-human clinical trial for MB-102, a novel fluorescent tracer agent for real-time measurement of glomerular filtration rate (2015)

The fluorescent tracer agent 2,5-bis[N-(1-carboxy-2-hydroxy)]carbamoyl-3,6-diaminopyrazine, designated MB-102, has been developed with properties and attributes necessary for use as a direct measure of glomerular filtration rate (GFR). Comparison to known standard exogenous GFR agents in animal models has demonstrated an excellent correlation. A clinical trial to demonstrate this same correlation in humans is in progress. This clinical trial is the first in a series of trials necessary to obtain regulatory clearance from the FDA. We report herein the comparison of plasma pharmacokinetics between MB-102 and the known standard exogenous GFR agent Iohexol in healthy subjects with normal renal function. Post simultaneous administration of both agents, blood samples over a period of 12 hours were collected from each subject to assess pharmacokinetic parameters including GFR. Urine samples were collected over this same period to assess percent injected dose recovered in the urine. Results indicate MB-102 is a GFR agent in humans from the comparison to the standard agent.
A Fragmented Adeno-Associated Viral Dual Vector Strategy for Treatment of Diseases Caused by Mutations in Large Genes Leads to Expression of Hybrid Transcripts (2016)

Despite previous success shown with the fAAV approach, the lack of repeatability and identification of stable hybrid transcripts capable of protein production suggests there is more refinement required before considering this approach in a clinical setting.
The Dynamic in vivo Distribution of Bone Marrow-Derived Mesenchymal Stem Cells after Infusion (2001)

Bone marrow-derived mesenchymal stem cells (MSCs) have the potential to differentiate along different mesenchymal lineages including those forming bone, cartilage, tendon, fat, muscle and marrow stroma that supports hematopoiesis. This differentiation potential makes MSCs candidates for cell-based therapeutic strategies for mesenchymal tissue injuries and for hematopoietic disorders by both local and systemic application. In the present study, rat marrow-derived MSCs were ex vivo culture-expanded, labeled with (111)In-oxine, and infused into syngeneic rats via intra-artery (i.a.), intravenous (i.v.) and intraperitoneal cavity (i.p.) infusions. In addition, for i.a. and i.v. infusions, a vasodilator, sodium nitroprusside, was administered prior to the cell infusion and examined for its effect on MSC circulation. The dynamic distribution of infused MSCs was monitored by real-time imaging using a gamma camera immediately after infusion and at 48 h postinfusion. After 48 h, radioactivity in excised organs, including liver, lungs, kidneys, spleen and long bones, was measured in a gamma well counter and expressed as a percentage of injected doses. After both i.a. and i.v. infusion, radioactivity associated with MSCs was detected primarily in the lungs and then secondarily in the liver and other organs. When sodium nitroprusside was used, more labeled MSCs cleared the lungs resulting in a larger proportion detected in the liver. Most importantly, the homing of labeled MSCs to the marrow of long bones was significantly increased by the pretreatment with vasodilator. These results indicate multiple homing sites for injected MSCs and that the distribution of MSCs can be influenced by administration of vasodilator.
Hydrosilylation of enones: platinum divinyltetramethyldisiloxane complex in the preparation of triisopropylsilyl and triphenylsilyl enol ethers (1994)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTHydrosilylation of enones: platinum divinyltetramethyldisiloxane complex in the preparation of triisopropylsilyl and triphenylsilyl enol ethersCarl R. Johnson and Raj K. RahejaCite this: J. Org. Chem. 1994, 59, 9, 2287–2288Publication Date (Print):May 1, 1994Publication History Published online1 May 2002Published inissue 1 May 1994https://doi.org/10.1021/jo00088a006RIGHTS & PERMISSIONSArticle Views1501Altmetric-Citations43LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InReddit PDF (205 KB) Get e-AlertsSupporting Info (1)»Supporting Information Supporting Information Get e-Alerts