gebhart/patrepeval huggingface dataset:
Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa? (2004)

Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin disease caused by mutations in the gene encoding type VII collagen (COL7A1). The mutations are highly variable and this greatly complicates the study of the genotype-phenotype relationships. To date, three recurrent mutations, specific to Japanese RDEB patients have been reported. By comparing the phenotypes of RDEB patients with different recurrent mutations, the upstream positions of the premature termination codons (PTCs) showed strong correlation with the RDEB clinical disease severity. However, such correlations have not been supported by patients with mutations that were different from these recurrent Japanese patients mutations. In this study, we report a case of RDEB with a very mild clinical phenotype, who was a compound heterozygote harbouring both a recurrent Japanese mutation and a novel deletion mutation resulting in a more upstream PTC. The patient and his mother were shown to have a recurrent donor splice site mutation within intron 81 (6573 + 1G > C), a recurrent Japanese mutation that activates a cryptic donor splicing site and results in a downstream PTC. The patient and his father shared a single-nucleotide deletion within exon 64 (5504delA), which causes a downstream frame shift in five amino acids before creating a PTC. Occurrence of the PTCs in mRNA was confirmed by reverse transcription-polymerase chain reaction (RT)-PCR. The patient's skin showed reduced immunofluorescence staining for COL7A1 and reduced number of abnormal or short anchoring fibrils by electron microscopy. Although the position of the mutation 5504delA PTC was located upstream of the previous mutations reported in combination with the 6573 + 1G > C mutation, the two mutations together give an apparently milder clinical phenotype. Therefore, genotype-phenotype relationships in RDEB cannot be explained purely by the position of PTC.
Mussel-Inspired Monovalent Selective Cation Exchange Membranes Containing Hydrophilic MIL53(Al) Framework for Enhanced Ion Flux (2018)

The surface properties and structure of a membrane play a significant role in the ion selectivity during electrodialysis. Recently, polydopamine (PDA) and its related nanomaterials have emerged as promising materials to develop composite membranes for higher separation requirements. Previous research has shown that the codeposition of PDA and polyethylenimine (PEI) triggered by Cu2+/H2O2 could facilitate the transport of H+ while rejecting multivalent ions though electrostatic effects. However, the enhanced H+ flux by acid–base pairs is not applicable in a Na+/Mg2+ system. Here we report a facile method to construct monovalent selective membranes through rapid codeposition of PDA/PEI and Mil(53)-Al, followed by cross-linking with trimesoyl chloride (TMC). The positive −NH2 allows us to reject multivalent cations, while porous Mil(53)-Al can accelerate the migration of Na+. The surface morphology and physicochemical properties of the as-prepared composite membranes were studied by SEM, AFM, and XPS analyses, and the electrochemical properties were evaluated by EIS and current–voltage curves. The results demonstrated that a robust skin layer was formed on the commercial cation exchange membrane substrate, endowing the ion-exchange membrane with an increased separation performance for multivalent ions. The monovalent selectivity and ion flux can be tuned by changing the ratio of Mil(53)-Al during the codeposition process. A mass ratio of 0.2–0.4% (w/v) for Mil(53)-Al is the optimum protocol, yielding a membrane with a permselectivity of about 0.3 and an ion flux of about 22.0 and 0.6 mol·cm–2·s–1 for Na+ and Mg2+, respectively. At this condition, the PDA-coated membrane maintains a high monovalent selectivity with enhanced Na+ and Mg2+ flux in single salt solutions. This one-pot method to prepare PDA based membrane provides a new direction to prepare monovalent selective ion-exchange membranes.
Cloning of a New "Finger" Protein Gene (ZNF173) within the Class I Region of the Human MHC (1995)

The human major histocompatability complex contains genes of both immune and nonimmune importance. Recently, several genes encoding novel, non-HLA products have been described in this area. We have performed positional cloning of short fragment cDNA sequences from the class I region of the human MHC using a hybridization selection approach. This report describes isolation of full-length cDNA clones and partial genomic clones that encode a protein that contains two domains rich in cysteine and histidine similar to those characteristic of metal-dependent DNA binding proteins (C3HC4). The predicted protein also contains a domain thought to form a coiled-coil that may promote dimerization. A third feature is a polyglutamic acid region near the carboxyl terminus of the conceptual protein. Because of these properties, we have named this gene product acid finger protein (AFP). Although the biological role of AFP is unknown at present, one potential function is binding of nucleic acids. The gene (ZNF173) is expressed in multiple tissues and is conserved among mammals. In particular, the mouse and human coding regions are highly conserved. In addition to AFP, other related sequences have been localized to the MHC, suggesting that multiple AFP-like genes exist in this area.
Health promotion (1994)

This paper examines the problems of evaluating health promotion. It describes the difficulties and biases which may be encountered when utilising instruments such as interviews and questionnaires for the purposes of evaluation. The paper briefly describes the characteristics of a good measurement instrument, but suggests that health state utility measurement may offer a means of truly evaluating health promotion in a way which is theoretically sound, whilst also being people-centred.
Immunochemical Studies on the Poly-γ-D-glutamyl Capsule of Bacillus anthracis. I. Characterization of the Polypeptide and of the Specificity of Its Reaction with Rabbit Antisera* (1966)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTImmunochemical Studies on the Poly-γ-D-glutamyl Capsule of Bacillus anthracis. I. Characterization of the Polypeptide and of the Specificity of Its Reaction with Rabbit Antisera*Joel W. Goodman and Danute E. NiteckiCite this: Biochemistry 1966, 5, 2, 657–665Publication Date (Print):February 1, 1966Publication History Published online1 May 2002Published inissue 1 February 1966https://pubs.acs.org/doi/10.1021/bi00866a036https://doi.org/10.1021/bi00866a036research-articleACS PublicationsRequest reuse permissionsArticle Views78Altmetric-Citations21LEARN 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
Determination of Acetic Acid in Fermentation Broth by Gas‐Diffusion Technique (2008)

Abstract Due to the interfering effects of acetic acid in many fermentation processes, a gas‐diffusion technique was developed for the online determination of acetic acid. The measurements were accomplished with a flow diffusion analysis (FDA) unit from the TRACE Analytics GmbH, Braunschweig, Germany. The diffusion analysis is based on the UV‐absorbance of acetic acid at 205 nm. The measurement was achieved by the separation of an acceptor and a carrier stream (acidified fermentation broth) using a gas permeable polytetrafluoroethylene (PTFE) membrane, whereby broth constituents that would otherwise disturb the UV‐measurement of acetic acid, are held back efficiently. Merely, the fermentation by‐products, e.g. formic acid, is capable of diffusing through the membrane. While formic acid can disturb the measurement, carbon dioxide does not absorb at 205 nm. The method operates with time‐dependent sample enrichment. During the analysis, a small volume of the acceptor stream is stopped for a defined time interval in the acceptor chamber. During this period, the gaseous acetic acid diffuses through the membrane and is enriched in the acceptor chamber. Subsequently after the enrichment, the acceptor stream flows through a UV‐detector. The intensity of the signal is proportional to the acetic acid concentration. Online measurements in bioreactors via a sterile filtration probe have been accomplished. A linear calibration in the range of 0.5–5.0 g/L acetic acid with a relative standard deviation of &lt;5 % was obtained. A sampling rate of 8 samples per hour was possible. The system was applied for the determination of acetic acid in E. coli fermentation broth. The instrument is easy to clean, very user‐friendly and does not require any toxic or expensive reagents.
Electron and hole ionization coefficients in (100) oriented Ga0.33In0.67As0.70P0.30 (1984)

The impact ionization coefficients for electrons and holes in (100) oriented Ga0.33In0.67As0.70P0.30 whose band gap is 0.92 eV have been obtained from photomultiplication measurements on a Zn diffused p+n abrupt junction having a donor concentration of 2×1016 cm−3. It has been shown that the ionization coefficient for electrons is larger than that for holes by a factor of 1.5 over the electric field range from 3.3×105 to 4.3×105 V/cm.
Commitment-based device-pairing protocol with synchronized drawings and comparison metrics (2014)

This article presents a new method for pairing devices securely. The commitment-based authentication uses a fuzzy secret that the devices only know approximately. Its novel feature is time-based opening of commitments in a single round. We also introduce a new source for the fuzzy secret: synchronized drawing with two fingers of the same hand on two touch screens or surfaces. The drawings are encoded as strings and compared with an edit-distance metric. A prototype implementation of this surprisingly simple and natural pairing mechanism shows that it accurately differentiates between true positives and man-in-the-middle attackers.
Robust surface-consistent residual statics and phase correction - part 2 (2014)

In land AVO processing, near-surface heterogeneity issues are resolved by surface-consistent processing. It is presumed that the amplitude and phase corrections are taken care of by surfaceconsistent deconvolution and statics solution is applied independently of the phase. Due to noise, the surface consistent residual wavelet phase estimation is unreliable. Given the relation between statics and phase, solving for statics alone when phase errors exist will result in over or underestimation of statics. We therefore propose a surface-consistent method to resolve residual statics & phase simultaneously by maximizing the stack power. Phase errors estimated by the method correlate with features of surface topography and with different source types demonstrating that the method is robust.
Corrected Tilt Calculation for Atmospheric Pressure-Induced Seismic Noise (2022)

In a literature search on the coupling of wind-generated pressure fluctuations into seismic noise, it was noticed that the expression for the angular tilt induced by pressure fluctuations in the seminal paper “A preliminary investigation into the relationship between long-period seismic noise and local fluctuations in the atmospheric pressure” by G. G. Sorrells was only valid at the surface. A search of the literature which cites the Sorrells paper was performed to see if any subsequent research corrected this error, and what effect the error might have on the research. A recent paper by Tanimoto and Wang notes the correct expression for the tilt, but employs the simpler erroneous expression in the research. In this paper, we develop the correct expression for effective measured displacements and approximate expressions analogous to those of Sorrells. The resulting magnitudes and decay with depth are then displayed and compared to Sorrells. Next, the results of the literature search are discussed. The results of three papers are identified as potentially modified by the correction of the tilt calculation. Finally, it is noted that the majority of the papers referenced are not affected by the correction, since many of the papers are for near-surface displacements of very low frequencies.
Frequency characteristics of amorphous multilayered films and video heads using them (1997)

The frequency characteristics of the complex permeability of amorphous sputter-deposited CoNbZr/SiO2 multilayered film developed for high-frequency VTR heads were investigated. The frequency characteristics of the permeabilities, μ′ and μ′ of a single-layered film in the hard direction agree well with those obtained from the theory of eddy-current loss. In a multilayered film, the limit frequency fgm (beginning with which μ′ decreases) moves upward and the high-frequency permeability increases with decreasing thickness of the amorphous layer. However, fgm is lower than the limit frequency fgc estimated from eddy-current loss. In addition, μ′ is smaller and μ′ is larger than the estimated values when the frequency exceeds 30 MHz. In order to elucidate the discrepancy between the experimental and theoretical results, the interlayer eddy current due to defects in the intermediate layer and the interlayer eddy current due to capacitance were investigated. It was found that the interlayer eddy currents due to the defects mentioned above cause a decrease of μ′ and increase of μ′. The frequency characteristic of a VTR head output with an amorphous multilayered film was similar to that of the permeability. In a head with a multilayered film composed of layers about 3 μm thick, the attenuation of the output at 50 MHz was about 9 dB less than in a head with a single-layered film 18 μm thick. © 1997 Scripta Technica, Inc. Electron Comm Jpn Pt 2, 80(1): 96–105, 1997
Evaluation of Whole Amaranth ( Amaranthus cruentus ) Flour, Its Air‐Classified Fractions, and Blends of These with Wheat and Oats as Possible Components for Infant Formulas (1986)

ABSTRACT Whole amaranth (Amaranthus cruentus) seed flour, its air‐classified fractions and extruded blends of these with wheat and oats were studied with the purpose of evaluating their potential as components in the development in infant formulas. Proximal chemical analyses, mineral content, fatty acid composition of lipid fractions, amino acid analyses and Protein Efficiency Ratio (PER) and Net Protein Retention (NPR) values were obtained for all raw materials, as well as for 50:50 and 60:40 blends of these with oats and wheat. The 50:50 and 60:40 blends of whole amaranth, as well as of the protein‐rich air‐classified fraction, were found to be highly suitable for utilization in infant formulas.
Study of gain in C-band deflection cavities for a frequency-doubling magnicon amplifier (1993)

An experimental study of the gain between two half-wavelength, 5.7-GHz TM/sub 110/ mode pillbox cavities, separated by a quarter-wavelength drift space, and powered by a 170-A, 500-keV electron beam immersed in an 8.1-kG magnetic field is reported. These cavities constitute the first section of a planned multicavity deflection system, whose purpose is to spin up an electron beam to high transverse momentum ( alpha identical to upsilon perpendicular to / upsilon /sub z/>or=1) for injection into the output cavity of a frequency-doubling magnicon amplifier. A gain of approximately 15 dB was observed in the preferred circular polarization, at a frequency shift of approximately -0.18%, in the opposite circular polarization, at a frequency shift of approximately +0.06%. These results are in good agreement with theory.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">&gt;</ETX>
The effect of high intensity laser propagation instabilities on channel formation in underdense plasmas (2003)

Experiments have been performed using high power laser pulses (up to 50 TW) focused into underdense helium plasmas (ne⩽5×1019 cm−3). Using shadowgraphy, it is observed that the laser pulse can produce irregular density channels, which exhibit features such as long wavelength hosing and “sausage-like” self-focusing instabilities. This phenomenon is a high intensity effect and the characteristic period of oscillation of these instabilities is typically found to correspond to the time required for ions to move radially out of the region of highest intensity.
Rotating Machines (2015)

The article contains sections titled: Introduction Topology Design and Analysis Key Components and Manufacturing Issues Outlook
Cell Gas Analysis in Plastic Foams (1991)

We describe a quantitative method for measuring cell gas composition of captive blowing agent plastic foams. Foam samples were crushed in a gasbag sampling device that had been purged with inert gas. Following addition of an internal standard to the sampling device, cell gases (halocarbons, air, carbon dioxide) were determined quantitatively by gas chromatography
Tetrakis(triisopropyl phosphite)nickel(0) (2001)

[36700-07-9] C36H84NiO12P4 (MW 891.77) InChI = 1S/4C9H21O3P.Ni/c4*1-7(2)10-13(11-8(3)4)12-9(5)6;/h4*7-9H,1-6H3; InChIKey = KTDSTUKUNMAEAM-UHFFFAOYSA-N (catalyst for hydrazone1 and alkyne allylation,2 allyl ester rearrangements,3 alkene cyclodimerization,4 and amination5) Physical Data: mp 187 °C. Preparative Methods: most conveniently synthesized by the reaction of Bis(1,5‐cyclooctadiene)nickel(0) with Triisopropyl Phosphite.6 Handling, Storage, and Precautions: is a cancer suspect agent; air sensitive; should be handled using Schlenk or glove box techniques. Use in a fume hood.
Real-time dose-guidance in radiotherapy: Proof of principle (2021)

Real-time dose-guidance was proposed and demonstrated to be superior to geometrical adaptation in liver SBRT simulations.
Gene expression analysis using strains constructed by NHEJ-mediated one-step promoter cloning in the yeastKluyveromyces marxianus (2015)

Gene expression analysis provides valuable information to evaluate cellular state. Unlike quantitative mRNA analysis techniques like reverse-transcription PCR and microarray, expression analysis using a reporter gene has not been commonly used for multiple-gene analysis, probably due to the difficulty in preparing multiple reporter-gene constructs. To circumvent this problem, we developed a novel one-step reporter-gene construction system mediated by non-homologous end joining (NHEJ) in the yeast Kluyveromyces marxianus. As a selectable reporter gene, the ScURA3 selection marker was fused in frame with a red fluorescent gene yEmRFP (ScURA3:yEmRFP). The N-terminally truncated ScURA3:yEmRFP fragment was prepared by PCR. Promoter sequences were also prepared by PCR using primers containing the sequence of the deleted ScURA3 N-terminus to attach at their 3(') ends. The two DNA fragments were used for the transformation of a ura3(-) strain of K. marxianus, in which two DNA fragments are randomly joined and integrated into the chromosome through NHEJ. Only the correctly aligned fragments produced transformants on uracil-deficient medium and expressed red fluorescence under the control of the introduced promoters. A total of 36 gene promoters involved in glycolysis and other pathways were analyzed. Fluorescence measurements of these strains allowed real-time gene expression analysis in different culture conditions.
Absolute stereochemistry and chiroptical properties of chiral tribenzotriptycene and benzotriptycenes (1980)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTAbsolute stereochemistry and chiroptical properties of chiral tribenzotriptycene and benzotriptycenesNobuyuki Harada, Yasufumi Tamai, Yuki Takuma, and Hisashi UdaCite this: J. Am. Chem. Soc. 1980, 102, 2, 501–506Publication Date (Print):January 1, 1980Publication History Published online1 May 2002Published inissue 1 January 1980https://pubs.acs.org/doi/10.1021/ja00522a010https://doi.org/10.1021/ja00522a010research-articleACS PublicationsRequest reuse permissionsArticle Views247Altmetric-Citations23LEARN 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
Blends of a Perfluorosulfonate Ionomer with Poly(vinylidene fluoride):  Effect of Counterion Type on Phase Separation and Crystal Morphology (2000)

The type of counterion present in the Nafion component of a blend with poly(vinylidene fluoride) (PVDF) is shown to affect phase separation and the crystalline polymorphism of the PVDF component. Nafion neutralized with an alkali metal counterion, Na+, results in blends displaying large-scale phase separation upon heating to temperatures above the melting point of PVDF. In contrast, when the Nafion counterion is changed to a larger tetrabutylammonium counterion (TBA+), the melt is homogeneous, and with the exception of the PVDF crystallites, large-scale phase separation is not observed after the blend is cooled to room temperature. For the blends containing Na+-form Nafion, the crystalline morphology of the PVDF component develops in predominately the α crystal form, similar to pure PVDF crystallized from the melt. However, for blends containing TBA+-form Nafion, the PVDF component crystallizes with a higher content of the β- and/or γ-crystal forms. This effect of counterion type on the phase separation behavior and crystal morphology is attributed to the strength of the electrostatic cross-links within the Nafion component. Strong electrostatic cross-links induce gelation of the Nafion component leading to phase separation at elevated temperatures, whereas weak electrostatic cross-links provide a free-flowing melt that allows for a more favorable mixing with the PVDF component and is thus capable of influencing the crystallization process.