gebhart/patrepeval huggingface dataset:
[Progress in genetic testing and prevention of hereditary hearing disorders]. (2007)

The article reviews the latest achievements of molecular-genetic technologies in diagnosis of hereditary hypoacusis, statistics on hereditary hypoacusis morbidity in different countries. Arguments for genetic testing, diagnostic algorithm of congenital hypoacusis and trends in prophylaxis are considered. Presently 65 genes are identified which are related with syndromes and non-syndrome forms of neurosensory hypoacusis. In foreign countries about 200 mutations in 8 genes are diagnosed now. Pathological changes of the majority of genes lead to peripheral neurosensory hypoacusis as all these genes code proteins of the internal ear. In view of this, genetic testing makes topic diagnosis of the disease of the organ of hearing. Most of genetically confirmed hearing problems are indication for cochlear implantation. Prophylactic activity should be focused on explanation of the role and possibilities of genetic counseling and DNA diagnostic tests, promotion of knowledge of etiological structure of congenital hearing disorders. Active measures are necessary for early detection of genetic alterations among risk groups, early diagnosis of mutation carriers among couples of reproductive age with normal hearing.
Femtosecond laser machined microfluidic devices for imaging of cells during chemotaxis (2011)

Microfluidic devices designed for chemotaxis assays were fabricated on fused silica substrates using femtosecond laser micromachining. These devices have built-in chemical concentration gradient forming structures and are ideally suited for establishing passive diffusion gradients over extended periods of time. Multiple gradient forming structures, with identical or distinct gradient forming characteristics, can be integrated into a single device, and migrating cells can be directly observed using an inverted microscope. In this paper, the design, fabrication, and operation of these devices are discussed. Devices with minimal structure sizes ranging from 3 to 7 lm are presented. The use of these devices to investigate the migration of Dictyostelium discoideum cells toward the chemoattractant folic acid is presented as an example of the devices' utility.
Interferon-mediated, double-stranded RNA-dependent protein kinase is inhibited in extracts from vaccinia virus-infected cells (1984)

The interferon-inducible, double-stranded RNA (dsRNA)-dependent protein kinase which phosphorylates an endogenous HeLa 69 kilodalton polypeptide or exogenous initiation factor eIF2 was inhibited during vaccinia virus infection. High interferon doses (20,000 reference units per ml) did not prevent this inhibition. The inhibition required protein synthesis but not viral DNA synthesis during infection, suggesting that an early vaccinia virus gene function was responsible. An active dsRNA-dependent protein kinase could be recovered from an inactive extract by purification on polyinosinate X polycytidylate-cellulose. An inhibitor of the protein kinase, therefore, must be present in the inactive extract. Similar results have been obtained with mouse L929 cells. At early time points of infection, the protein kinase in cell extracts required exogenous dsRNA for activity. This argues against endogenous viral dsRNA and activation of the kinase in the intact cell. At late time points of infection (when vaccinia virus dsRNA was almost certainly formed), the inhibitor of the kinase is present. Accordingly, it seems unlikely that the kinase played any role in the interferon-mediated inhibition of virus growth observed in these cells under these particular conditions.
Vowel Spectra, Vowel Spaces, and Vowel Identification (1970)

Twelve Dutch vowels, each pronounced by 50 male speakers, were analyzed in 18 filter bands comparable in bandwidth with the ear's critical band. By considering the sound levels (in decibels) in these filter bands as dimensions, with a principal-component analysis the 18 dimensions per sound were reduced to four factors which together explain 75% of the total variance. The configuration of the average vowels in the factor space appeared to be highly correlated with their configuration in the F1−F2 formant plane. After matching to maximal congruence, correlation coefficients along corresponding axes were 0.997 and 0.979. Machine vowel identification, based upon the position of the individual vowels in the four-dimensional factor space, resulted (after three pairs of related vowels were grouped together) in 98% correct identifications if correction was applied for personal timbre of the speakers' voices. Ten listeners, to whom the 600 vowels were presented as 100-msec segments, gave 86% correct responses in identifying the intended vowels. The confusions between the vowel types were basis for a multidimensional scaling (Kruskal) to construct a perceptual configuration of the vowels. In four dimensions the solution showed 2.3% stress. Perceptual configuration and factor configuration, maximally matched, had correlation coefficients along corresponding axes of 0.997, 0.995, 0.907, and 0.794, respectively.
The ‘intrinsic’ system in the human cortex and self-projection: a data driven analysis (2010)

Information received by the human cortex is supplied by two main sources: extrinsic stimuli delivered by the external environment and intrinsic information regarding the body and self. We reanalyzed electrophysiological data involving the same external stimuli, but manipulating the degree of 'self-projection' to locations inside and outside the body border. Electrical neuroimaging and spatial principal component analysis (PCA) showed a bipartition of the cerebral cortex into two main subsystems: occipital and frontal activity was similar across tasks; activity in temporo-parietal and anterior frontal regions was modulated according to the manipulation of self-projection in a given task. These data suggest that the first system relates to external stimulus processing ('extrinsic') and the latter one relates to processing of the 'internal milieu' of body and self ('intrinsic').
Syntaxin 3 and SNAP-25 pairing, regulated by omega-3 docosahexaenoic acid, controls the delivery of rhodopsin for the biogenesis of cilia-derived sensory organelles, the rod outer segments (2009)

The biogenesis of cilia-derived sensory organelles, the photoreceptor rod outer segments (ROS), is mediated by rhodopsin transport carriers (RTCs). The small GTPase Rab8 regulates ciliary targeting of RTCs, but their specific fusion sites have not been characterized. Here, we report that the Sec6/8 complex, or exocyst, is a candidate effector for Rab8. We also show that the Qa-SNARE syntaxin 3 is present in the rod inner segment (RIS) plasma membrane at the base of the cilium and displays a microtubule-dependent concentration gradient, whereas the Qbc-SNARE SNAP-25 is uniformly distributed in the RIS plasma membrane and the synapse. Treatment with omega-3 docosahexaenoic acid [DHA, 22:6(n-3)] causes increased co-immunoprecipitation and colocalization of SNAP-25 and syntaxin 3 at the base of the cilium, which results in the increased delivery of membrane to the ROS. This is particularly evident in propranolol-treated retinas, in which the DHA-mediated increase in SNARE pairing overcomes the tethering block, including dissociation of Sec8 into the cytosol. Together, our data indicate that the Sec6/8 complex, syntaxin 3 and SNAP-25 regulate rhodopsin delivery, probably by mediating docking and fusion of RTCs. We show further that DHA, an essential polyunsaturated fatty acid of the ROS, increases pairing of syntaxin 3 and SNAP-25 to regulate expansion of the ciliary membrane and ROS biogenesis.
Importance of Measuring Testosterone in Enzyme-Inhibited Plasma for Oral Testosterone Undecanoate Androgen Replacement Therapy Clinical Trials (2015)

It was demonstrated that T must be analyzed in enzyme-inhibited plasma when TU is the administered medication.
A framework for determining useful parallelism (1988)

An approach to finding and forming parallel processes for both sequential and parallel programs is presented. The approach is presented in a framework that can create useful parallelism for a variety of parallel architectures. The framework makes use of a control dependence graph to capture maximal parallelism, a process tree to expose useful parallelism, renaming and storage segregation to reduce data dependencies, and an architecture-specific cost analyzer to evaluate the effectiveness of the potential processes. The framework is currently being implemented.
Ultrastructural and Antigenic Characterization of a Granulocytic Ehrlichiosis Agent Directly Isolated and Stably Cultivated from a Patient in New York State (1997)

A human granulocytic ehrlichiosis (HGE) agent with 16S rDNA sequence identical to the published sequence of HGE agents was isolated from a patient from New York State by inoculation of the blood leukocyte fraction directly into a human promyelocytic leukemia cell line HL-60. The HGE agent was also isolated from the leukocyte fraction of the blood and bone marrow of a mouse inoculated with the leukocyte fraction of the patient's blood. The isolate has been passaged in tissue culture 30 times over 8 months. Electron microscopy revealed pleomorphic coccobacilli with a thin and highly rippled outer membrane in the clear inclusion matrix. Comparison of IFA reactivity of antisera obtained from a variety of sources with the cell-cultured HGE agent revealed that 3 HGE agent strains (New York isolate, Wisconsin [BDS] isolate, and a tick-derived isolate) are highly cross-reactive and there are diverse antigenic cross-reactivities between HGE agent and Ehrlichia chaffeensis.
Apoptin. (2000)

Tumor cells are often characterized by the traithey are more resistant to apoptosis induced by e.g. cytotoxic agents than normal cells. Resistance to apoptosis induction can be a direct consequence of mutations in certain tumor-suppressor genes (p53) or of certain proto-oncogenes (Bcl-2). Therefore, new cancer therapies are under development to bypass the resistance to chemo- and radio-therapy of tumors. Apoptin acts independently of p53, is stimulated by Bcl-2 and is insensitive to BCR-ABL, which means that Apoptin can induce apoptosis in cases where present (chemo)-therapeutic agents, unfortunately, will fail. The fact that Apoptin induces apoptosis in human tumorigenic cells but not in normal diploid cells, implies that side-effects of Apoptin treatment are expected to be minor. In-vivo results with a first prototype of anti-tumor therapy based on expression of Apoptin indicate that Apoptin has low acute toxicity and is effective as an anti-tumor agent.
Engineering Ferroelectric Hf0.5Zr0.5O2 Thin Films by Epitaxial Stress (2019)

The critical impact of epitaxial stress on the stabilization of the ferroelectric orthorhombic phase of hafnia is proved. Epitaxial bilayers of Hf0.5Zr0.5O2 (HZO) and La0.67Sr0.33MnO3 (LSMO) electrodes were grown on a set of single crystalline oxide (001)-oriented (cubic or pseudocubic setting) substrates with a lattice parameter in the 3.71–4.21 Å range. The lattice strain of the LSMO electrode, determined by the lattice mismatch with the substrate, is critical in the stabilization of the orthorhombic phase of HZO. On tensilely strained LSMO electrodes, most of the HZO film is orthorhombic, whereas the monoclinic phase is favored when LSMO is relaxed or compressively strained. Therefore, the HZO films on TbScO3 and GdScO3 substrates present substantially enhanced ferroelectric polarization in comparison to films on other substrates, including the commonly used SrTiO3. The capability of having epitaxial doped HfO2 films with controlled phase and polarization is of major interest for a better understanding of the ferroelectric properties and paves the way for fabrication of ferroelectric devices based on nanometric HfO2 films.
Activating frataxin expression by repeat-targeted nucleic acids (2016)

Friedreich's ataxia is an incurable genetic disorder caused by a mutant expansion of the trinucleotide GAA within an intronic FXN RNA. This expansion leads to reduced expression of frataxin (FXN) protein and evidence suggests that transcriptional repression is caused by an R-loop that forms between the expanded repeat RNA and complementary genomic DNA. Synthetic agents that increase levels of FXN protein might alleviate the disease. We demonstrate that introducing anti-GAA duplex RNAs or single-stranded locked nucleic acids into patient-derived cells increases FXN protein expression to levels similar to analogous wild-type cells. Our data are significant because synthetic nucleic acids that target GAA repeats can be lead compounds for restoring curative FXN levels. More broadly, our results demonstrate that interfering with R-loop formation can trigger gene activation and reveal a new strategy for upregulating gene expression.
Hormone replacement therapy and the risk of breast cancer. Nested case‐control study in a cohort of Swedish women attending mammography screening (1997)

There is concern that hormone replacement therapy (HRT) increases the risk of breast cancer. We undertook a case-control study of this risk relationship within a cohort of 40- to 74-year-old women in Uppsala County, Sweden, who participated in mammography screening. Incident cases of breast cancer were ascertained during 5 years of follow-up. In all, 435 cases (87% invasive, 13% in situ cancers) were detected, 313 through screening and 122 through clinical diagnosis. As controls, 1,740 women were selected randomly. Information on risk factors and use of HRT was obtained through interviews before the start of follow-up. Multivariate analyses revealed an increased risk among users of any type of HRT for more than 10 years, the odds ratio (OR) being 2.1 (95% confidence interval [CI] 1.1–4.0), as well as when restricting analyses to cases diagnosed through mammography screening. After stratification for compound type, risk estimates were apparently higher among women reporting estradiol–progestin combined treatment vs. estradiol or conjugated estrogens alone, with ORs for more than 10 years of intake being 2.4 (95% CI 0.7–8.6) and 1.3 (95% CI 0.5–3.7), respectively. Analyses through a model including both compound type and length of hormone intake confirmed a significant excess risk linked to treatment for more than 10 years, OR = 2.6 (95% CI 1.3–5.1). Our results indicate a moderately increased risk of breast cancer after many years of HRT and, hypothetically, a further enhancement of the risk with added progestins. Int. J. Cancer 72:758–761, 1997. © 1997 Wiley-Liss, Inc.
Membrane androgen receptor activation in prostate and breast tumor cells: Molecular signaling and clinical impact (2008)

In recent years, membrane androgen receptors (mARs) have been identified in prostate and breast tumor cells, and their activation by specific mAR ligands was linked to the regulation of crucial cell responses, such as cell growth, motility, and apoptosis. Analysis of the molecular signals triggered by mAR in the presence of anti-androgens has clearly differentiated mAR-dependent biological actions from those induced by the activation of the classical intracellular androgen receptors (iARs). In this review, we summarize the specific cellular events attributed to mAR activation and the experimental results on distinct non-genomic signaling cascades operating in various tumor cells independently of the iAR. Furthermore, we discuss the crucial role of actin cytoskeleton organization and signaling in mediating mAR responses. Finally, we assess the clinical impact of the reported mAR-induced apoptotic regression of prostate cancer cells both in vitro and in vivo and discuss the potential role of mAR as a novel therapeutic target.
Fiberoptic Imaging of Cavernous Nerves In Vivo (2007)

In vivo real-time imaging of the cavernous nerves is possible with no measurable toxicity, allowing the maintenance of erection. This novel imaging modality may allow urologists to identify cavernous nerves during pelvic surgery.
DEG: a database of essential genes (2003)

Essential genes are genes that are indispensable to support cellular life. These genes constitute a minimal gene set required for a living cell. We have constructed a Database of Essential Genes (DEG), which contains all the essential genes that are currently available. The functions encoded by essential genes are considered a foundation of life and therefore are likely to be common to all cells. Users can BLAST the query sequences against DEG. If homologous genes are found, it is possible that the queried genes are also essential. Users can search for essential genes by their function or name. Users can also browse and extract all the records in DEG. Essential gene products comprise excellent targets for antibacterial drugs. Analysis of essential genes could help to answer the question of what are the basic functions necessary to support cellular life. DEG is freely accessible from the website http://tubic.tju.edu.cn/deg/.
Electro‐organic synthesis of new pyrimidine and uracil derivatives (2009)

Abstract magnified image Electrochemical oxidations of catechols have been studied in the presence of 6‐amino pyrimidine derivatives as nucleophiles in aqueous solution using cyclic voltammetry. The efficient electro‐organic synthesis of products has been successfully performed at carbon rod electrodes in an undivided cell under controlled potential conditions in good yield and purity. J. Heterocyclic Chem., (2010).
Simple Access to the Non‐Oxidizing Lewis Superacid PhF→Al(ORF)3 (RF=C(CF3)3) (2008)

Lewis superacidity? In analogy to Brønsted superacids, Lewis superacids can be defined as Lewis acids that are stronger than the strongest conventional and commercially employed Lewis acid SbF5. The fluorobenzene complex PhF→Al(ORF)3 (RF=C(CF3)3) qualifies as an easily accessible, non-oxidizing and stable Lewis acid that conforms with our Lewis superacidity criterion.
Formation of marrow cavity and ossification in mouse limb buds grownin vitro (1980)

Explanted mouse limb buds aged 12, 13 or 14 days cultured for 9 days in vitro failed to develop a marrow cavity or show endochondral ossification. Explants aged 15 days developed a marrow cavity and showed signs of endochondral ossification. The periosteum in these limbs was perforated and laminated and cells appeared to be passing between the laminae to populate the marrow cavity. This suggests that there is a periosteal contribution to the bone marrow even in the absence of a blood supply.
Nucleotide sequence of the tamarillo mosaic virus coat protein gene (1990)

Journal Article Nucleotide sequence of the tamarillo mosaic virus coat protein gene Get access Robin M. Eagles, Robin M. Eagles 1DSIR Plant Protection, Private BagAuckland, New Zealand2, Department of Cellular and Molecular Biology, University of AucklandAuckland, New Zealand Search for other works by this author on: Oxford Academic PubMed Google Scholar Richard C. Gardner, Richard C. Gardner 2, Department of Cellular and Molecular Biology, University of AucklandAuckland, New Zealand Search for other works by this author on: Oxford Academic PubMed Google Scholar Richard L.S. Forster Richard L.S. Forster 1DSIR Plant Protection, Private BagAuckland, New Zealand Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 18, Issue 23, 1 December 1990, Page 7166, https://doi.org/10.1093/nar/18.23.7166 Published: 01 January 1990 Article history Published: 01 January 1990 Received: 25 October 1990
β-Carotene Supplementation and Incidence of Cancer and Cardiovascular Disease: the Women's Health Study (1999)

Among apparently healthy women, there was no benefit or harm from beta-carotene supplementation for a limited period on the incidence of cancer and of cardiovascular disease.
Serum CRP and IL-6 levels after trauma: Not predictive of septic complications in 31 patients (1998)

We studied 31 blunt trauma victims, Injury Severity Score (ISS) mean 14 (9-57), for the pattern of release of C-reactive protein (CRP) and cytokine interleukin-6 (IL-6). Blood samples were taken on admission (within 6 hours of injury), as well as at 24 hours, and 3, 5 and 7 days. Serum CRP and IL-6 were measured by ELISA. Subsequent surgical events and sepsis were noted. Serum IL-6 levels on admission were considerably higher (median 135 pg mL-1) than our laboratory reference range (< 5 pg mL-1), slowly returning towards reference values during the study. Serum CRP levels were similar to laboratory normal values on admission (median 8.5 mg L-1 vs 7.5 mg L-1), reaching peak values (median 110 mg L-1) after 3 days. There was a correlation between IL-6 release and ISS but not between CRP and ISS. Patients undergoing surgery showed further increases in IL-6 and CRP levels postoperatively. Of 24 surgical patients, 9 developed postoperative sepsis. In blunt trauma patients, early assessment of the markers CRP or IL-6 were not useful for the diagnosis of sepsis. Levels of CRP following accidental or surgical trauma should be assessed with caution.
Identification of Timbers (1996)

The identification of timbers may, at first sight, appear to be a comparatively simple matter; however, when it is realised that there are tens of thousands of woody species in the world, it will be appreciated that in some cases correct identification may be exceedingly difficult. Actually it is not always possible to arrive at the correct specific name from the examination of a single sample of wood, although it is usually possible to narrow down the identification to a group of related species, and this may be sufficient for most practical purposes. Moreover, although there are so many species that produce woody stems, only a small proportion grow to timber size. Even so, the number of species producing commercial timber runs into several hundreds. The characters available for distinguishing woods are not numerous, and identifications should be based on an examination of features that are known to be reliable, rather than on the more obvious characters, such as colour and weight, that tend to be far from consistent.KeywordsBuilding ResearchResin CanalCanada BalsamCommercial TimberHand LensThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.