gebhart/patrepeval huggingface dataset:
A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria (2004)

The purpose of this study was to identify the biochemical and genetic defect in L-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of L-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of L-2-hydroxyglutarate to alpha-ketoglutarate. This enzyme is mainly expressed in liver and kidney but also at lower levels in heart, brain, and other tissues. Subcellular fractionation indicates that the liver enzyme is present in mitochondria, where it is bound to membranes. Based on this information, a database search led to the identification of a gene encoding a human hypothetical protein homologous to bacterial FAD-dependent malate dehydrogenases and targeted to mitochondria. The gene encoding this protein, present on chromosome 14q22.1, was found to be in a region homozygous in patients with L-2-hydroxyglutaric aciduria from two consanguineous families. Three mutations that replaced a highly conserved residue (Lys-71-Glu and Glu-176-Asp) or removed exon 9 were identified in homozygous state in patients from three distinct families and were found to cosegregate with the disease. It is concluded that L-2-hydroxyglutarate is normally metabolized to alpha-ketoglutarate in mammalian tissues and that L-2-hydroxyglutaric aciduria is caused by mutations in the gene that most likely encodes L-2-hydroxyglutarate dehydrogenase. The pathological findings observed in this metabolic disorder must therefore be due to a toxic effect of L-2-hydroxyglutarate on the central nervous system.
Rapid Detection of Human Fecal Eubacterium Species and Related Genera by Nested PCR Method (2001)

PCR procedures based on 16S rDNA gene sequence specific for seven Eubacterium spp. and Eggerthella lenta that predominate in the human intestinal tract were developed, and used for direct detection of these species in seven human feces samples. Three species of Eggerthella lenta, Eubacterium rectale, and Eubacterium eligens were detected from seven fecal samples. Eubacterium biforme was detected from six samples. It was reported that E. rectale, E. eligens, and E. biforme were difficult to detect by traditional culture method, but the nested PCR method is available for the detection of these species. This result shows that the nested PCR method utilizing a universal primer pair, followed by amplification with species-specific primers, would allow rapid detection of Eubacterium species in human feces.
Fibroblast Growth Factor 2 Internal Ribosome Entry Site (Ires) Activity Ex Vivo and in Transgenic Mice Reveals a Stringent Tissue-Specific Regulation (2000)

Fibroblast growth factor 2 (FGF-2) is a powerful mitogen involved in proliferation, differentiation, and survival of various cells including neurons. FGF-2 expression is translationally regulated; in particular, the FGF-2 mRNA contains an internal ribosome entry site (IRES) allowing cap-independent translation. Here, we have analyzed FGF-2 IRES tissue specificity ex vivo and in vivo by using a dual luciferase bicistronic vector. This IRES was active in most transiently transfected human and nonhuman cell types, with a higher activity in p53 -/- osteosarcoma and neuroblastoma cell lines. Transgenic mice were generated using bicistronic transgenes with FGF-2 IRES or encephalomyocarditis virus (EMCV) IRES. Measurements of luciferase activity revealed high FGF-2 IRES activity in 11-d-old embryos (E11) but not in the placenta; activity was high in the heart and brain of E16. FGF-2 IRES activity was low in most organs of the adult, but exceptionally high in the brain. Such spatiotemporal variations were not observed with the EMCV IRES. These data, demonstrating the strong tissue specificity of a mammalian IRES in vivo, suggest a pivotal role of translational IRES- dependent activation of FGF-2 expression during embryogenesis and in adult brain. FGF-2 IRES could constitute, thus, a powerful tool for gene transfer in the central nervous system.
Characteristics of HLA-E Restricted T-Cell Responses and Their Role in Infectious Diseases (2016)

Human HLA-E can, in addition to self-antigens, also present pathogen-derived sequences, which elicit specific T-cell responses. T-cells recognize their antigen presented by HLA-E highly specifically and have unique functional and phenotypical properties. Pathogen specific HLA-E restricted CD8<sup>+</sup> T-cells are an interesting new player in the field of immunology. Future work should address their exact roles and relative contributions in the immune response against infectious diseases.
4-Azidobutyryl Group for Temporary Protection of Hydroxyl Functions (1986)

Abstract 4-Azidobutyryl esters formed from hydroxyl compounds and 4-azidobutyryl chloride were shown to be cleaved via reduction to 4-aminobutyrate followed by intramolecular O→N-acyl migrations to regenerate the free hydroxyl groups. High susceptibility of azide group to reduction enables the selective removal of this acyl group leaving many other functional groups unchanged.
Increased incidence and impact of nonconvulsive and convulsive seizures after traumatic brain injury as detected by continuous electroencephalographic monitoring (1999)

Seizures occur in more than one in five patients during the 1st week after moderate-to-severe brain injury and may play a role in the pathobiological conditions associated with brain injury.
In vivo cytokine profiles in allergic and irritant contact dermatitis (1995)

Local cytokine profiles in skin biopsies from allergic and irritant patch test reactions were determined by in vivo immunohistochemistry to differentiate between these 2 clinically identical afflictions especially at the same time of final reading in diagnostic patch testing. Biopsies were taken from established allergic persons after specific allergic patch tests to epoxy resin (1%), and formaldehyde (1%) and from non-allergic individuals with irritant patch tests to sodium lauryl sulfate (10%) and formaldehyde (8%). At 72 h after application of the agents, significantly enhanced frequencies of dermal infiltrating cells, producing IL-alpha, IL-2, and IFN-gamma per 100 infiltrating cells in the dermis, were observed in allergic as well as irritant test patch reactions, as compared to normal skin. Significantly higher frequencies of IL-1alpha producing cells were observed in biopsies from epoxy resin (1%) allergen-affected and formaldehyde (8%) irritant affected skin. The allergic and irritant patch test reactions showed similar levels of expression of the Th1 cytokines IL-2 and IFN-gamma in the dermis, confirmed by probe based detection of IL-2 mRNA and IFN-gamma mRNA. In conclusion, the described similarity shows that allergens and irritants can induce the same profile of IL-1alpha, TNF-alpha, IL-2, and IFN-gamma production, resulting in the near impossibility of discriminating between allergic and irritant contact dermatitis at the time of patch test reading.
Ribozyme rescue of photoreceptor cells in P23H transgenic rats: Long-term survival and late-stage therapy (2000)

Ribozyme-directed cleavage of mutant mRNAs appears to be a potentially effective therapeutic measure for dominantly inherited diseases. We previously demonstrated that two ribozymes targeted to the P23H mutation in rhodopsin slow photoreceptor degeneration in transgenic rats for up to 3 months of age when injected before significant degeneration at postnatal day (P) 15. We now have explored whether ribozyme rescue persists at older ages, and whether ribozymes are effective when injected later in the degeneration after significant photoreceptor cell loss. Recombinant adeno-associated virus (rAAV) vectors incorporating a proximal bovine rod opsin promoter were used to transfer either hairpin or hammerhead ribozyme genes to photoreceptors. For the study of long-term survival, rAAV was administered by subretinal injection at P15, and the rats were allowed to live up to 8 months of age. For the study of late-stage gene transfer, rAAV was administered at P30 or P45, when 40-45% of the photoreceptors already had degenerated. Eyes were examined functionally by the electroretinogram and structurally by morphometric analysis. When injected at P15, expression of either ribozyme markedly slowed the rate of photoreceptor degeneration for at least 8 months and resulted in significantly greater electroretinogram amplitudes at least up to P180. When injected at P30 or P45, virtually the same number of photoreceptors survived at P130 as when injected at P15. Ribozyme rescue appears to be a potentially effective, long-term therapy for autosomal dominant retinal degeneration and is highly effective even when the gene transfer is done after significant photoreceptor cell loss.
Simultaneous Solid-Phase Synthesis of .beta.-Turn Mimetics Incorporating Side-Chain Functionality (1994)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSimultaneous Solid-Phase Synthesis of .beta.-Turn Mimetics Incorporating Side-Chain FunctionalityAlex A. Virgilio and Jonathan A. EllmanCite this: J. Am. Chem. Soc. 1994, 116, 25, 11580–11581Publication Date (Print):December 1, 1994Publication History Published online1 May 2002Published inissue 1 December 1994https://pubs.acs.org/doi/10.1021/ja00104a053https://doi.org/10.1021/ja00104a053research-articleACS PublicationsRequest reuse permissionsArticle Views556Altmetric-Citations125LEARN 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 InRedditEmail Other access optionsGet e-AlertscloseSupporting Info (2)»Supporting Information Supporting Information Get e-Alerts
High-Density Shingled Heat-Assisted Recording Using Bit-Patterned Media Subject to Track Misregistration (2017)

Shingled recording employing bit-patterned media when used in conjunction with heat-assisted magnetic recording can significantly enhance the recording density. This paper investigates writing of dots that are not directly under the laser pulse. Such a shifted scheme of writing allows higher densities when used with shingled recording. A further increase in the recording density can be obtained by using composite structures, comprising a superparamagnetic writing layer, and a (doped) FePt storage layer. Effect of head velocity, Curie temperature variation, track mis-registration, and dot position jitter on the standard deviation of switching distribution is studied to evaluate the designs that offer data densities as high as ~16 Tbpsi.
Effects of Local Bacillus Calmette-Guerin Therapy in Patients with Bladder Carcinoma on Immunocompetent Cells of the Bladder Wall (1990)

The antitumoral effects of intravesical bacillus Calmette-Guerin against recurrent superficial urothelial bladder cancer seem to be linked to immunological effector mechanisms. To characterize further the local cellular response in the bladder wall of patients receiving intravesical bacillus Calmette-Guerin bladder biopsies were examined before and immediately after a 6-week course of bacillus Calmette-Guerin and for up to 1 year at 3-month intervals thereafter. The results showed a marked infiltration after bacillus Calmette-Guerin therapy predominantly of the suburothelial tissue with mononuclear cells, which expressed activation markers and accumulated to follicle-like granulomatous structures. With regard to T lymphocyte subsets the ratio of T helper-to-T suppressor cells in the bladder wall increased from 0.5 to nearly 2. This phenomenon persisted even in biopsies 1 year after initial treatment. In some probes activated mononuclear cells invaded the urothelium, emanating from suburothelial granulomas. It is tempting to assume that these changes within the local immunocompetent cells are related to the therapeutic effect of bacillus Calmette-Guerin against bladder cancer.
Role of CA125 in predicting ovarian cancer survival - a review of the epidemiological literature (2009)

CA125 is the gold standard tumor marker in ovarian cancer. Serum level of CA125 is used to monitor response to chemotherapy, relapse, and disease progression in ovarian cancer patients. Thus, it is reasonable to investigate whether CA125 may have utility as a prognostic indicator as well in ovarian cancer. A large number of epidemiological studies have been carried out to this effect. This review summarizes all available epidemiological literature on the association between CA125 levels and survival in ovarian cancer. To place these studies in context, we provide some background information on CA125 and its role in ovarian cancer.
Molecular tailoring of farnesylation for plant drought tolerance and yield protection (2005)

Protecting crop yield under drought stress is a major challenge for modern agriculture. One biotechnological target for improving plant drought tolerance is the genetic manipulation of the stress response to the hormone abscisic acid (ABA). Previous genetic studies have implicated the involvement of the beta-subunit of Arabidopsis farnesyltransferase (ERA1) in the regulation of ABA sensing and drought tolerance. Here we show that molecular manipulation of protein farnesylation in Arabidopsis, through downregulation of either the alpha- or beta-subunit of farnesyltransferase enhances the plant's response to ABA and drought tolerance. To test the effectiveness of tailoring farnesylation in a crop plant, transgenic Brassica napus carrying an ERA1 antisense construct driven by a drought-inducible rd29A promoter was examined. In comparison with the non-transgenic control, transgenic canola showed enhanced ABA sensitivity, as well as significant reduction in stomatal conductance and water transpiration under drought stress conditions. The antisense downregulation of canola farnesyltransferase for drought tolerance is a conditional and reversible process, which depends on the amount of available water in the soil. Furthermore, transgenic plants were more resistant to water deficit-induced seed abortion during flowering. Results from three consecutive years of field trial studies suggest that with adequate water, transgenic canola plants produced the same amount of seed as the parental control. However, under moderate drought stress conditions at flowering, the seed yields of transgenic canola were significantly higher than the control. Using protein farnesyltransferase as an effective target, these results represent a successful demonstration of engineered drought tolerance and yield protection in a crop plant under laboratory and field conditions.
Homogeneous metalation of alkylbenzenes (1970)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTHomogeneous metalation of alkylbenzenesCharles D. BroaddusCite this: J. Org. Chem. 1970, 35, 1, 10–15Publication Date (Print):January 1, 1970Publication History Published online1 May 2002Published inissue 1 January 1970https://pubs.acs.org/doi/10.1021/jo00826a003https://doi.org/10.1021/jo00826a003research-articleACS PublicationsRequest reuse permissionsArticle Views468Altmetric-Citations90LEARN 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 InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Extracapsular spread (2001)

ECS is the most significant predictor of both regional recurrence and development of distant metastasis accounting for decreased survival of patients with SCCOT in the current study. Therefore, intensive regional and systemic adjuvant therapy may be indicated for patients with ECS. Future studies should focus on identifying molecular mediators involved in ECS to determine targets for adjuvant therapies in this subset of patients.
Quantum-secure authentication of a physical unclonable key (2014)

Authentication of persons and objects is a crucial aspect of security. We experimentally demonstrate quantum-secure authentication (QSA) of a classical multiple-scattering key. The key is authenticated by illuminating it with a light pulse containing fewer photons than spatial degrees of freedom and verifying the spatial shape of the reflected light. Quantum-physical principles forbid an attacker to fully characterize the incident light pulse. Therefore, he cannot emulate the key by digitally constructing the expected optical response, even if all information about the key is publicly known. QSA uses a key that cannot be copied due to technological limitations and is quantum-secure against digital emulation. Moreover, QSA does not depend on secrecy of stored data, does not depend on unproven mathematical assumptions, and is straightforward to implement with current technology.
Optimizing photogrammetric DEMs for glacier volume change assessment using laser-scanning derived ground-control points (2009)

Abstract Photogrammetric processing of archival stereo imagery offers the opportunity to reconstruct glacier volume changes for regions where no such data exist, and to better constrain the contribution to sea-level rise from small glaciers and ice caps. The ability to derive digital elevation model (DEM) measurements of glacier volume from photogrammetry relies on good-quality, well-distributed ground reference data, which may be difficult to acquire. This study shows that ground-control points (GCPs) can be identified and extracted from point-cloud airborne lidar data and used to control photogrammetric glacier models. The technique is applied to midtre Lovénbreen, a small valley glacier in northwest Svalbard. We show that the amount of ground control measured and the elevation accuracy of GCP coordinates (based on known and theoretical error considerations) has a significant effect on photogrammetric model statistics, DEM accuracy and the subsequent geodetic measurement of glacier volume change. Models controlled with fewer than 20 lidar control points or GCPs from sub-optimal areas within the swath footprint overestimated volume change by 14–53% over a 2 year period. DEMs derived from models utilizing 20–25 or more GCPs, however, gave volume change estimates within ∼4% of those from repeat lidar data (−0.51 m a − 1 between 2003 and 2005). Our results have important implications for the measurement of glacier volume change from archival stereo-imagery sources.
In Vivo Efficacy of Intrathecal Transferrin-Pseudomonas Exotoxin A Immunotoxin against LOX Melanoma (1994)

NEOPLASTIC MENINGITIS DUE to the dissemination of systemic cancer or primary central nervous system tumors through the cerebrospinal fluid carries a very poor prognosis. Current treatments for this disease are ineffective, and new therapeutic modalities such as immunotoxins may be beneficial. We created an animal model of human carcinomatous meningitis with LOX melanoma-derived tissue-culture cells in athymic rats for testing the efficacy of intrathecal therapy with transferrin-Pseudomonas exotoxin A (Tfn-PE) immunotoxin. An injection of 5 × 105 LOX cells into the intrathecal space through an indwelling catheter resulted in the reproducible development of lower-extremity paraplegia at 9.24 ± 1.77 days because of focal deposits of tumor growth adjacent to the thoracic and lumbar spinal cord. A dose of 2.5 or 5 μg of intrathecal Tfn-PE immunotoxin was neurotoxic and resulted in the deaths of 8 of 10 animals within 24 hours. Histological evidence of central nervous system damage was seen as hemorrhagic degeneration around the central canal or a pathological cleft at the level of the cervical spinal cord. Because no neurotoxicity was seen with 1 μg of intrathecal Tfn-PE immunotoxin, this dose was administered in treatment experiments. Twenty-four hours after the intrathecal instillation of LOX cells, 10 animals received intrathecally either 1 μg of Tfn-PE or phosphate-buffered saline with 0.1% human serum albumin (control group). Control animals experienced lower-extremity paraplegia at 10.7 ± 2.75 days compared with animals treated with Tfn-PE, which did not develop paralysis until 15.5 ± 4.58 days, representing a mean delay in the onset of paraplegia of 5 days or 31% (P = 0.015). This observed delay in the onset of paraplegia in treated animals with human neoplastic meningitis supports the use of intrathecal immunotoxins for Phase I/II clinical trials in patients with carcinomatous meningitis from systemic or central nervous system cancer.
Hepatorenal Syndrome (2005)

Hepatorenal syndrome (HRS) is a serious event during the course of decompensated cirrhosis. Although the most characteristic feature of the syndrome is a functional renal failure due to intense renal vasoconstriction, it is a more generalized process affecting the heart, brain and splanchnic organs. There are two types of HRS. Type 1 HRS is characterized by a rapidly progressive impairment of the circulatory and renal functions associated with a very poor prognosis (median survival rate lower than 2 weeks). Type 2 HRS is characterized by a steady impairment of the circulatory and renal functions with a median survival of 6 months. The pathogenesis of HRS is a deterioration of the effective arterial blood volume due to splanchnic arterial vasodilation and a reduction in venous return and cardiac output. It is therefore not surprising that the syndrome can be reversed by the simultaneous administration of intravenous albumin and arterial vasoconstrictors. Intrarenal mechanisms are important as well and require prolonged improvement of the circulatory function to be deactivated. Long-term administration of intravenous albumin and vasoconstrictors or correction of portal hypertension with a transjugular intrahepatic portacaval shunt are effective treatments of HRS, and many serve as a bridge to liver transplantation, the treatment of choice in these patients.