gebhart/patrepeval huggingface dataset:
Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research (2011)

We review the contributions and limitations of genome-wide array-based identification of copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental retardation (MR) and other brain-related disorders. In unselected MR referrals a causative genomic gain or loss is detected in 14-18% of cases. Usually, such CNVs arise de novo, are not found in healthy subjects, and have a major impact on the phenotype by altering the dosage of multiple genes. This high diagnostic yield justifies array-based segmental aneuploidy screening as the initial genetic test in these patients. This also pertains to patients with autism (expected yield about 5-10% in nonsyndromic and 10-20% in syndromic patients) and schizophrenia (at least 5% yield). CNV studies in idiopathic generalized epilepsy, attention-deficit hyperactivity disorder, major depressive disorder and Tourette syndrome indicate that patients have, on average, a larger CNV burden as compared to controls. Collectively, the CNV studies suggest that a wide spectrum of disease-susceptibility variants exists, most of which are rare (<0.1%) and of variable and usually small effect. Notwithstanding, a rare CNV can have a major impact on the phenotype. Exome sequencing in MR and autism patients revealed de novo mutations in protein coding genes in 60 and 20% of cases, respectively. Therefore, it is likely that arrays will be supplanted by next-generation sequencing methods as the initial and perhaps ultimate diagnostic tool in patients with brain-related disorders, revealing both CNVs and mutations in a single test.
Real-Time Hand Tracking and Gesture Recognition System (2005)

In this paper, we introduce a hand gesture recognition system to recognize real time gesture in unconstrained environments. The system consists of three modules: real time hand tracking, training gesture and gesture recognition using pseudo two dimension hidden Markov models (P2-DHMMs). We have used a Kalman filter and hand blobs analysis for hand tracking to obtain motion descriptors and hand region. It is fairy robust to background cluster and uses skin color for hand gesture tracking and recognition. Furthermore, there have been proposed to improve the overall performance of the approach: (1) Intelligent selection of training images and (2) Adaptive threshold gesture to remove non-gesture pattern that helps to qualify an input pattern as a gesture. A gesture recognition system which can reliably recognize single-hand gestures in real time on standard hardware is developed. In the experiments, we have tested our system to vocabulary of 36 gestures including the America sign language (ASL) letter spelling alphabet and digits, and results effectiveness of the approach.
Dihydropyrimidines. 16. Stability and enamine-imine tautomerism in 1,2- and 2,5-dihydropyrimidines (1986)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTDihydropyrimidines. 16. Stability and enamine-imine tautomerism in 1,2- and 2,5-dihydropyrimidinesA. L. Weis, F. Frolow, and R. VishkautsanCite this: J. Org. Chem. 1986, 51, 24, 4623–4626Publication Date (Print):November 1, 1986Publication History Published online1 May 2002Published inissue 1 November 1986https://pubs.acs.org/doi/10.1021/jo00374a024https://doi.org/10.1021/jo00374a024research-articleACS PublicationsRequest reuse permissionsArticle Views602Altmetric-Citations12LEARN 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 (1)»Supporting Information Supporting Information Get e-Alerts
Molecular and catalytic properties of mitochondrial (ketogenic) 3-hydroxy-3-methylglutaryl coenzyme A synthase of liver. (1975)

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase has been purified to homogeneity from avian liver. The enzyme in dilute phosphate buffer, pH 7.0, has an S20,w of 5.7 S and a molecular weight of 105,000 determined by sedimentation equilibrium; the presence of 0.1 M KCl causes dissociation to a form one-half that size, i.e. about 57,000 daltons. Since the subunit molecular weight of the synthase determined by the dodecyl sulfate acrylamide gel method is 53,000, it appears that the native enzyme is a dimer composed of weight-homogeneous subunits. A number of molecular and catalytic properties allow the mitochondrial and cytoplasmic 3-hydroxy-3-methylglutaryl-CoA synthases to be distinguished. The pI of the homogeneous mitochondrial enzyme is 7.2. This value, while identical to that of the single isoelectric-focusing species of broken mitochondrial preparations, differs from those of the multiple 3-hydroxy-3-methylglutaryl-CoA synthases found in the cytoplasmic fraction which exhibit pI values of 4.8 and 6.7. Rabbit antibodies against the purified mitochondrial synthase are capable of precipitating the mitochondrial, but not the cytoplasmic, synthase(s) of avian liver. Finally, the synthase differ kinetically in their responses to divalent magnesium ion, the mitochondrial enzyme being inhibited and the cytoplasmic enzyme(s) activated. It is proposed that the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase of liver functions in ketogenesis while its cytoplasmic counterpart participates in cholesterogenesis (Clinken-Beard, K. D., Sugiyama, T., Reed, W. D. and Lane, M.D. (1975) J. Biol. Chem. 250, 3124-3134).
Age-Dependent Influence of Strain Rate on the Tensile Failure of Rat-Tail Tendon (1983)

Sensitivity of tensile strength, failure strain, and failure energy density to strain rate was studied for rat-tail tendon (RTT), a collagen-rich connective tissue. Tendons from animals aged 1-27 months were stretched at a high (720 percent/s) and low (3.6 percent/s) strain rate. Each failure parameter increased with strain rate. However, the sensitivity of tendon failure to rate of strain decreased rapidly during growth and sexual maturation of the animal. The study provides basic data on the rate-sensitive strength of collagen fibers using RTT.
The Office of Weapons Removal and Abatement: Broadening Mine Action to Include Other Conventional Threats (2003)

The U.S. government has been a pioneer and dedicated supporter of humanitarian mine action since the first mine clearance programs began taking shape in Afghanistan in 1988. Through the investigation of new detection and clearance technologies, the development of indigenous mine action capacities and the formation of a wide array of public-private partnerships, the United States has demonstrated that its response to the persistent landmine problem remains a high priority. Impressive as the combined accomplishments of the U.S. government, the private sector, and other donor governments have been, they still, however, do not provide a full response to the enormous tasks that remain. Lincoln P. Bloomfield, Jr., Special Representative of the President and Secretary of State for Mine Action and the Assistant Secretary of State for Political-Military (PM) Affairs, recognizes this reality and has called for an aggressive international mine action agenda in the coming years. Part of this agenda has required the definition of “mine action” to be expanded to include remediation of abandoned munitions and small arms/light weapons with the aim of serving the broader objectives of post-conflict reconstruction and national reconciliation. As a result, the Office of Weapons Removal and Abatement (WRA) within the Department of State’s Bureau of PM Affairs was created to address these issues in a more synergistic manner.
Triangle mesh-based surface modeling using adaptive smoothing and implicit surface texture integration (2003)

Presents a framework of surface modeling from multi-view range data. The input to the algorithms are triangle meshes, each of which is from a single view range scan. The triangle meshes generated from raw data are first processed by the proposed area decreasing flow for surface denoising. Although the proposed flow is mathematically equivalent to the mean curvature flow, it can avoid the difficulty in curvature estimation and provide an optimal flowing step size. We introduce an adaptive triangle mesh smoothing scheme based on crease edge strength of each vertex using tensor voting of the normal vector field inside a geodesic window. The smoothing result makes surface normal estimation more accurate which is then used in surface mesh integration. Based on Hilton's implicit surface-based method, surfaces from multiple views are integrated into a single 3D model. We incorporate color images to generate textured models. The algorithms are successfully applied to surface modeling from range data using two types of range scanners.
100-MHz monolithic low-pass filters with transmission zeros using NIC integrators (1991)

A monolithic method of implementing VHF filters with transmission zeros is presented. The transmission zeros are obtained using a modified leapfrog simulation method realized without floating capacitors that does not require summing circuits inside the feedback loops. The integrators used are balanced negative impedance converter (NIC) integrators with grounded capacitors, which do not require p-n-p transistors and are suited for low-voltage applications. A low-pass filter with a cutoff frequency of 100 MHz and with a transmission zero at 166 MHz designed and built in an integrated circuit form showed good results, confirming the feasibility of the method.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">></ETX>
Gold Nanoparticle Contrast Agents in Advanced X-ray Imaging Technologies (2013)

Recently, there has been significant progress in the field of soft- and hard-X-ray imaging for a wide range of applications, both technically and scientifically, via developments in sources, optics and imaging methodologies. While one community is pursuing extensive applications of available X-ray tools, others are investigating improvements in techniques, including new optics, higher spatial resolutions and brighter compact sources. For increased image quality and more exquisite investigation on characteristic biological phenomena, contrast agents have been employed extensively in imaging technologies. Heavy metal nanoparticles are excellent absorbers of X-rays and can offer excellent improvements in medical diagnosis and X-ray imaging. In this context, the role of gold (Au) is important for advanced X-ray imaging applications. Au has a long-history in a wide range of medical applications and exhibits characteristic interactions with X-rays. Therefore, Au can offer a particular advantage as a tracer and a contrast enhancer in X-ray imaging technologies by sensing the variation in X-ray attenuation in a given sample volume. This review summarizes basic understanding on X-ray imaging from device set-up to technologies. Then this review covers recent studies in the development of X-ray imaging techniques utilizing gold nanoparticles (AuNPs) and their relevant applications, including two- and three-dimensional biological imaging, dynamical processes in a living system, single cell-based imaging and quantitative analysis of circulatory systems and so on. In addition to conventional medical applications, various novel research areas have been developed and are expected to be further developed through AuNP-based X-ray imaging technologies.
Thermal Annealing and Electrochemical Purification of Multi-Walled Carbon Nanotubes Produced by Camphor/Ferrocene Mixtures (2010)

Multi-walled carbon nanotubes (MWCNT) were obtained by pyrolysis of camphor/ferrocene mixtures, at different concentrations of ferrocene, on quartz, polished silicon and carbon felt substrates. A detailed study by electron microscopy, Raman spectroscopy, X-ray diffraction and thermogravimetric analysis was carried out to determine the purity degree of MWCNTs. Thermal annealing under vacuum and electrochemical purification were used for iron removal. The thermal annealing brings improvement on crystalline structure of MWCNTs, besides iron elimination from internal structure of the tubes, while the electrochemical treatments remove efficiently the iron from MWCNT surface.
Regional haemodynamic effects of μ‐, δ‐, and κ‐opioid agonists microinjected into the hypothalamic paraventricular nuclei of conscious, unrestrained rats (1995)

1. The cardiovascular effects of bilateral injection into the hypothalamic paraventricular nuclei of selective mu-, delta-, and kappa-opioid receptor agonists were investigated in conscious, unrestrained Wistar Kyoto rats, chronically instrumented with pulsed Doppler flow probes for measurement of regional haemodynamics. 2. The selective mu-agonist [D-Ala2,MePhe4,Gly5ol]enkephalin (DAMGO), injected bilaterally into the hypothalamic paraventricular nuclei (0.01-1.0 nmol), caused increases in blood pressure, tachycardias, vasoconstriction in renal and superior mesenteric vascular beds and substantial vasodilatation in the hindquarter vascular bed. 3. The administration of increasing doses (0.01-5.0 nmol) of the selective delta-agonist [D-Phe2,5]enkephalin (DPDPE) or the selective kappa-agonist, U50488H into the paraventricular nuclei (PVN) had no significant effect on blood pressure, heart rate, or regional haemodynamics. 4. Together, the present results are further evidence of a role for opioid peptides, especially acting at mu-receptors in the PVN, in the central regulation of the cardiovascular system, whereas a role for opioid peptides, acting at delta- and kappa-receptors in the PVN, seems less obvious from the present results.
Exploring chemoselective S-to-N acyl transfer reactions in synthesis and chemical biology (2017)

S-to-N acyl transfer is a high-yielding chemoselective process for amide bond formation. It is widely utilized by chemists for synthetic applications, including peptide and protein synthesis, chemical modification of proteins, protein-protein ligation and the development of probes and molecular machines. Recent advances in our understanding of S-to-N acyl transfer processes in biology and innovations in methodology for thioester formation and desulfurization, together with an extension of the size of cyclic transition states, have expanded the boundaries of this process well beyond peptide ligation. As the field develops, this chemistry will play a central role in our molecular understanding of Biology. The conversion of thioesters to amides via acyl transfer has become one of the most important synthetic techniques for the chemical synthesis and modification of proteins. This review discusses this S-to-N acyl transfer process, and highlights some of the key applications across chemistry and biology.
Novel Poly[3-(<i>p</i>-substituted)benzoyl-2,5-thiophenes] via Nickel(0)-Catalyzed Coupling Polymerization (1998)

Three novel poly[3-(p-substituted)benzoyl-2,5-thiophene]s (Ib, IIb, and IIIb) were successfully prepared via nickel(0)-catalyzed coupling polymerization of 3-benzoyl-2,5-dichlorothiophene (Ia), 3-(p-fluoro)benzoyl-2,5-dichlorothiophene (IIa), and 3-(p-toluoyl)-2,5-dichlorothiophene (IIIa). To our knowledge, monomers (IIa) and (IIIa) are new compounds. On the basis of K and α values from the Mark−Houwink relationship, the 〈Mv〉 of the polymers were in the range 1.50 × 105 to 3.51 × 105 g/mol. The α value equal to 0.97 is close to unity indicating that the 〈Mv〉 is approximately equal to the 〈Mw〉. The high molecular weight polymers were soluble in common organic solvents. Their glass transition temperatures were all above 160 °C and showed no evidence of crystallinity by differential scanning calorimetry. All three polymers were thermally and thermooxidatively stable with 10% weight loss in nitrogen and air occurring above 430 °C. The UV−vis absorption λmax for the three polymers greater than 465 nm is a further evidence of the high molecular weight and the long effective conjugation length.
Spectroscopic studies and analysis of the laser states of Nd^3+ in YVO_4* (1976)

Polarized absorption and dye-laser excited fluorescence spectra of Nd3+ in the Y3+ site of yttrium orthovanadate at 85 and 300°K are presented and analyzed. The absence of allowed transitions and the unusual concentration of line strength into one transition in π polarization within a given line group is shown by the Judd-Ofelt theory to be a consequence of the D2d symmetry of the site and ion placements in the unit cell which cause the A±67 odd-parity crystal-field coefficient to be dominant. An energy level scheme giving level positions, level identities, and observed transitions is presented. The ground state was found to be Γ7(μ = ±3/2) with a Jz composition of ∓1/2, ±7/2, and ∓9/2. Linewidths and peak cross sections of the 4F3/2 → 4I11/2 transitions are also presented. The principal laser line in this group at 10 640.9 ± 0.2 Å was found to be predominately π polarized and to have a cross section of 30 × 10−19 cm2, which is 4.6 times larger than the laser transition of Nd3+ in YAG.
Solubilized Gramicidin A as Potential Systemic Antibiotics (2011)

Makeover of an old antibiotic: The channel-forming toxin gramicidin A (gA) has been successfully converted into agents that selectively chase after bacterial cells. These novel D-Lys-containing gA mutants display potent antimicrobial activity and remarkable therapeutic indexes (>1000-fold). Detailed facts of importance to specialist readers are published as ”Supporting Information”. Such documents are peer-reviewed, but not copy-edited or typeset. They are made available as submitted by the authors. 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.
Electron microscopic findings for micafungin-treated experimental pulmonary aspergillosis in mice (2005)

We performed a scanning and transmission electron microscopic study on the efficacy of micafungin (MCFG) to understand what kind of damage MCFG causes to Aspergillus and to confirm its previously reported in vitro killing activity against Aspergillus in a mouse model of pulmonary aspergillosis. Aspergillus hyphae in MCFG-treated mice displayed hyphal burst, evidenced as either flattened or atrophied appearance and leakage of cellular contents after collapse of the cell wall. Thus, MCFG can induce the destruction of Aspergillus hyphae at the focus of infection. The results of the present study indicate that MCFG improves pulmonary aspergillosis due to lethal damage to Aspergillus hyphae. This action can effectively reduce the invasive ability of Aspergillus even though MCFG does not sterilize the fungal burden.
Logarithmic PCM weighted QAM transmission over Gaussian and Rayleigh fading channels (1987)

The transmission of 8-bit μ-law PCM signals using M-level weighted QAM (WQAM), M =16, 64 and 256, over Gaussian and Rayleigh fading channels is examined. The weighting process modifies the positions of the QAM constellation points so that the overall distortion in the recovered information-bearing source signal is reduced. The PCM bits are mapped to the WQAM points such that the most significant bits have a lower probability of being in error than the least significant bits. Gray coding of the constellation points is also used. The WQAM systems have been optimised for the same average signal energy per transmitted symbol as for unweighted QAM. Optimised systems have also been derived for the same peak signal energy per symbol. The theoretical and simulation results using speech indicate that 16-level and 256-level WQAM have a gain of up to 3 and 5dB, respectively, over unweighted QAM for the Gaussian channel. The gains due to weighting for 16-level QAM operating over an ideal slow Rayleigh fading channel are up to 5 dB.
A new absorbable suture (1971)

Abstract Although satisfactory nonabsorbable sutures made from a variety of synthetic and natural materials have been available for a number of years, since ancient times only collagenous absorbable sutures have found general acceptance. While adequate, catgut and the more recently developed regenerated collagens have inherent disadvantages common to many complex natural substances, particularly variability in composition and properties. A new synthetic absorbable suture has been developed from polyglycolic acid equation image . This material was chosen after testing a wide variety of polymers for the appropriate absorbability behavior in animals and for the required physical and mechanical properties. Polyglycolic acid suitable for this use was most conveniently prepared by the ring opening melt polymerization of glycolide. Development of a reliable process for this commercially unavailable monomer led to the discovery of the existence of two glycolide polymorphs one of which exhibits erratic polymerization behavior after exposure to trace amounts of moisture. Polyglycolic acid was converted into fiber by melt extrusion, stretching, and heat setting. Braided sutures prepared from these fibers exhibit high strength, excellent handling properties, minimal tissue reactivity, and a similar but more reproducible absorption rate than catgut. Clinical studies with these sutures are in progress.
Genetic analysis of transcriptional activation and repression in the Tn21 mer operon (1989)

Transcription of the Tn21 mercury resistance operon (mer) is controlled by the toxic metal cation Hg(II). This control is mediated by the product of the merR gene, a 144-amino-acid protein which represses transcription of the structural genes (merTPCAD) in the absence of Hg(II) and activates transcription in the presence of Hg(II). We have used a mer-lac transcriptional fusion to obtain regulatory mutants in this metal-responsive system. Some mutants were defective in Hg(II)-induced activation while retaining repression function (a- r+), others were defective in repression but not activation (a+ r-), and some had lost both functions (a- r-). Mutations in three of the four cysteine residues of merR resulted in complete loss of Hg(II)-inducible activation but retention of the repressor function, suggesting that these residues serve as ligands for Hg(II) in the activation process. Other lesions adjacent to or very near these cysteines exhibited severely reduced activation and also retained repressor function. There were two putative helix-turn-helix (HTH) domains in merR, and mutants in each had very different phenotypes. A partially dominant mutation in the more amino-terminal region of the two putative HTH regions resulted in loss of both activation and repression (a- r-), consistent with a role for this region in DNA binding. Mutations in the more centrally located HTH region resulted only in loss of Hg(II)-induced activation (a- r+). Lesions in the central and in the carboxy-terminal regions of merR exhibited both Hg(II)-independent and Hg(II)-dependent transcriptional activation, suggesting that elements important in the activation mechanism may be widely distributed in this relatively small protein. The sole cis-acting mutant obtained with this operon fusion strategy, a down-promoter mutation, lies in a highly conserved base in the -35 region of the merTPCAD promoter.