gebhart/patrepeval huggingface dataset:
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. (1995)

mRNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene in tissues of cystic fibrosis (CF) patients has allowed us to detect a cryptic exon. The new exon involves 49 base pairs between exons 11 and 12 and is due to a point mutation (1811+1.6kbA-->G) that creates a new donor splice site in intron 11. Semiquantitative mRNA analysis showed that 1811+1.6kbA-->G-mRNA was 5-10-fold less abundant than delta F508 mRNA. Mutation 1811+1.6kbA-->G was found in 21 Spanish and 1 German CF chromosomes, making it the fourth-most-frequent mutation (2%) in the Spanish population. Individuals with genotype delta F508/1811+1.6kbA-->G have only 1%-3% of normal CFTR mRNA. This loss of 97% of normal CFTR mRNA must be responsible for the pancreatic insufficiency and for the severe CF phenotype in these patients.
ULTRASONIC TECHNIQUE FOR THE EVALUATION OF BONE FRACTURES (1958)

1From the Orthopedic Service and the Radioisotope Service, Veterans Administration Hospital, Hines, Illinois.
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders (2012)

Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims to identify differences in 170 ASD cases and 115 age/sex-matched controls and to evaluate the utility of gene expression profiling as a tool to aid in the diagnosis of ASD. The differentially expressed genes were enriched for the neurotrophin signaling, long-term potentiation/depression, and notch signaling pathways. We developed a 55-gene prediction model, using a cross-validation strategy, on a sample cohort of 66 male ASD cases and 33 age-matched male controls (P1). Subsequently, 104 ASD cases and 82 controls were recruited and used as a validation set (P2). This 55-gene expression signature achieved 68% classification accuracy with the validation cohort (area under the receiver operating characteristic curve (AUC): 0.70 [95% confidence interval [CI]: 0.62-0.77]). Not surprisingly, our prediction model that was built and trained with male samples performed well for males (AUC 0.73, 95% CI 0.65-0.82), but not for female samples (AUC 0.51, 95% CI 0.36-0.67). The 55-gene signature also performed robustly when the prediction model was trained with P2 male samples to classify P1 samples (AUC 0.69, 95% CI 0.58-0.80). Our result suggests that the use of blood expression profiling for ASD detection may be feasible. Further study is required to determine the age at which such a test should be deployed, and what genetic characteristics of ASD can be identified.
Porphobilinogen Synthase from Pea:  Expression from an Artificial Gene, Kinetic Characterization, and Novel Implications for Subunit Interactions (2000)

Porphobilinogen synthase (PBGS) is present in all organisms that synthesize tetrapyrroles such as heme, chlorophyll, and vitamin B(12). The homooctameric metalloenzyme catalyzes the condensation of two 5-aminolevulinic acid molecules to form the tetrapyrrole precursor porphobilinogen. An artificial gene encoding PBGS of pea (Pisum sativum L.) was designed to overcome previous problems during bacterial expression caused by suboptimal codon usage and was constructed by recursive polymerase chain reaction from synthetic oligonucleotides. The recombinant 330 residue enzyme without a putative chloroplast transit peptide was expressed in Escherichia coli and purified in 100-mg quantities. The specific activity is protein concentration dependent, which indicates that a maximally active octamer can dissociate into less active smaller units. The enzyme is most active at slightly alkaline pH; it shows two pK(a) values of 7.4 and 9.7. Atomic absorption spectroscopy shows maximal binding of three Mg(II) per subunit; kinetic data support two functionally distinct types of Mg(II) and the third appears to be nonphysiologic and inhibitory. Analysis of the protein concentration dependence of the specific activity suggests that the minimal functional unit is a tetramer. A model of octameric pea PBGS was built to predict the location of intermolecular disulfide linkages that were revealed by nonreducing sodium dodecyl sulfate-polyacrylamide gel electrophoresis. As verified by site-specific mutagenesis, disulfide linkages can form between four cysteines per octamer, each located five amino acids from the C-terminus. These data are consistent with the protein undergoing conformational changes and the idea that whole-body motion can occur between subunits.
Isolation and Structural Characterization of Colistin Components. (2001)

Preparative-scale separation of colistin sulphate bulk sample was carried out on a preparative poly(styrene-divinylbenzene) stationary phase. Isocratic elution with acetonitrile-sodium sulphate solution (0.7% m/v; pH adjusted to 2.5 with TFA) - water (16:50:34, % v/v/v) was carried out at a flow rate of 4.0 ml min(-1). Six colistin components were isolated and characterized using 1H and 13C NMR. The molecular weights were confirmed by mass spectrometry. The structures of 2 components were determined for the first time. Polymyxin E7 was identified as having the same composition as polymyxin E1, except that the fatty acid moiety was 7-methyloctanoic acid. Isoleucine polymyxin E8 was characterized as having the same composition as isoleucine polymyxin E1 with 7-methylnonanoic acid as the fatty acid moiety.
Formalization of Construction Sequencing Rationale and Classification Mechanism to Support Rapid Generation of Sequencing Alternatives (2007)

Resequencing construction activities is a critical task for project planners for effective project control. Resequencing activities require planners to determine the impact or “role” an activity has on successor activities. They also need to determine the status of activities, i.e., which activities may or may not be delayed. Distinguishing the role and status of activities in turn requires planners to understand the rationale for activity sequences. The current critical path method (CPM) framework, however, represents sequencing rationale using precedence relationships and distinguishes activities only with respect to their time-criticality. Thus, planners find it difficult to keep track of individual sequencing logic, and manually inferring the role and status of activities becomes practically prohibitive in complex project schedules. The research presented in this paper addressed this limitation of the CPM framework by formalizing a constraint ontology and classification mechanism. The ontology allows planners to describe their rationale for activity sequences in a consistent and intuitive way, whereas the classification mechanism leverages the ontology to automatically infer the role and status of activities. The ontology and mechanisms were implemented in a prototype tool. With this tool, users can quickly verify which activities to delay to expedite critical milestone or bottleneck activities, thus making it possible to quickly evaluate and generate sequencing alternatives in CPM-based schedules.
Structure of calcium prothrombin fragment 1 including the conformation of the Gla domain (1989)

The structure of Ca2+ prothrombin fragment 1 has been solved at 2.8-A resolution by X-ray crystallographic methods. Most of the Gla domain of fragment 1 (residues 1-48), which is high homologous with the N-terminal regions of six other blood proteins, cannot be identified in the electron density map of the apo structure. This is not the case when crystals are grown in the presence of Ca2+ ions where the Gla domain exhibits a well-defined folded structure. The folding of the Gla domain is dominated by secondary structure: (a) 3.0 turns of alpha-helix (25%) and (b) five short beta-strands arranged into two beta-structural units (40%). The Cys18-Cys23 disulfide of the small conserved loop of Gla domains is close to a cluster of conserved aromatic residues. The resulting interaction is probably responsible for the fluorescence quenching event accompanying Ca2+ ion binding. Since the Gla domain approximates a discoid, all the Gla residues are easily accessible to solvent. The arrangement of the paired Gla residues (7-8, 20-21, 26-27) is highly suggestive in that they essentially line one edge of the Gla domain creating a potentially intense electronegative environment. This region might well be that associated with phospholipid binding. The kringle structure of Ca2+ fragment 1 is essentially indistinguishable from that of the apoprotein at this stage.
Towards new tuberculosis vaccine (2010)

According to WHO, about one third of the world's population is infected with bacteria of the Mycobacterium tuberculosis complex. Currently there is globally 9.15 million recorded cases of overt tuberculosis (TB) annually and due to lack of adequate diagnostics presumably a large but unknown number of non-recorded cases. TB is estimated to cause 1.65 million deaths per annum which accounts for one-fifth of all deaths by infectious diseases of adults in low-income countries. During recent years a rapid spread of multi-drug resistant bacteria causing about 0.5 million TB cases per year has worsened the problem. The live attenuated Bacillus Calmette-Guérin (BCG) vaccine which is the only currently available TB vaccine does not confer any significant protection against the most common and contagious form of TB-adult pulmonary TB.
CXCR3-dependent recruitment and CCR6-mediated positioning of Th-17 cells in the inflamed liver (2012)

CXCR3 promotes recruitment of Th17 cells from the blood into the liver in both human and murine liver injury. Their subsequent positioning near bile ducts is dependent on cholangiocyte-secreted CCL20.
Regulation of HIV Production by Blood Mononuclear Cells from HIV-Infected Donors: II. HIV-1 Production Depends on T Cell-Monocyte Interaction (1993)

Cell-cell interactions induced between T cells and monocytes by certain soluble anti-CD3 monoclonal antibodies (MAbs) were previously shown to be required for high-level production of HIV-1 by peripheral blood mononuclear cells (PBMCs) from infected donors. Staphylococcal enterotoxin or superantigen (SAg) is another mitogen inducing monocytes-T cell interactions that exhibit potent induction of HIV-1 production. Antibodies to several adhesion molecules were used to test the requirements for T cell- and monocyte-associated adhesion molecules in HIV-1 production following activation with anti-CD3 or SAg. Blocking of either CD2-LFA-3, or CD18-ICAM-1, inhibited anti-CD3- or SAg-induced HIV-1 production by more than 90% without inhibiting CD4+ T cell proliferation. Inhibition of HIV production was observed when either the T cell or monocyte coreceptor was bound by MAbs to these adhesion molecules. Blocking of CD28-B7 interactions by soluble CTLA-4 fusion protein, a CD28 homolog, inhibited both HIV-1 production and CD4+ T cell proliferation. Fc binding was not required for HIV-1 inhibition by MAbs to CD2 and CD18, because Fab or F(ab')2 fragments of these MAbs inhibited HIV-1 production by more than 80%. A chimeric single-chain MAb to CD2 was produced, containing heavy and light chain variable regions from MAb 35.1 to CD2 linked to the constant regions of human IgG1 (CD2 SFv-Ig). This humanized CD2 SFv-Ig inhibited HIV-1 production by 30% to > 98%. These results thus indicate that simultaneous engagement of multiple adhesion pathways between T cells and monocytes are required for HIV production by patients PBMCs and may have implications for therapy of HIV infections.
Symmetrical triamino-per-O-methyl-.alpha.-cyclodextrin: preparation and characterization of primary trisubstituted .alpha.-cyclodextrins (1979)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSymmetrical triamino-per-O-methyl-.alpha.-cyclodextrin: preparation and characterization of primary trisubstituted .alpha.-cyclodextrinsJoshua Boger, Daniel G. Brenner, and Jeremy R. KnowlesCite this: J. Am. Chem. Soc. 1979, 101, 25, 7630–7631Publication Date (Print):December 1, 1979Publication History Published online1 May 2002Published inissue 1 December 1979https://pubs.acs.org/doi/10.1021/ja00519a035https://doi.org/10.1021/ja00519a035research-articleACS PublicationsRequest reuse permissionsArticle Views319Altmetric-Citations60LEARN 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
A boundary optimisation algorithm for delineating brain objects from CT-scans (2005)

The authors present an image processing algorithm for contour refinement of anatomical objects from brain CT scans. The algorithm uses an optimisation function to detect the contour points and to determine the belief that a point is lying on the object boundary. This optimisation function takes into account the following image features: the amplitude of the gradient, the orientation change of the gradient along the contour and a curvature measure. The proposed technique consists of using the three image features as variables in a Fisher linear classifier. That means a linear transformation vector W/sup T/=(/spl alpha//sub 1/, /spl alpha//sub 2/, /spl alpha//sub 3/) must be determined to achieve a maximal separation of two sets of points-namely boundary points and non-boundary points. The training sets for the Fisher linear classifier are acquired by a manual selection process, yielding typical boundary points and non-boundary points for different brain objects. The authors also discuss experiments in which the technique is applied to CT-scans of normal human brains.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">&gt;</ETX>
Growth of Oriented Single-Crystalline Rutile TiO2 Nanorods on Transparent Conducting Substrates for Dye-Sensitized Solar Cells (2009)

Dye-sensitized solar cells (DSSCs) made from oriented, one-dimensional semiconductor nanostructures such as nanorods, nanowires, and nanotubes are receiving attention because direct connection of the point of photogeneration with the collection electrode using such structures may improve the cell performance. Specifically, oriented single-crystalline TiO(2) nanorods or nanowires on a transparent conductive substrate would be most desirable, but achieving these structures has been limited by the availability of synthetic techniques. In this study, a facile, hydrothermal method was developed for the first time to grow oriented, single-crystalline rutile TiO(2) nanorod films on transparent conductive fluorine-doped tin oxide (FTO) substrates. The diameter, length, and density of the nanorods could be varied by changing the growth parameters, such as growth time, growth temperature, initial reactant concentration, acidity, and additives. The epitaxial relation between the FTO substrate and rutile TiO(2) with a small lattice mismatch plays a key role in driving the nucleation and growth of the rutile TiO(2) nanorods on FTO. With TiCl(4)-treatment, a light-to-electricity conversion efficiency of 3% could be achieved by using 4 mum-long TiO(2) nanorod films as the photoanode in a DSSC.
AC Field-Induced Polymer Electroluminescence with Single Wall Carbon Nanotubes (2011)

We developed a high-performance field-induced polymer electroluminescence (FPEL) device consisting of four stacked layers: a top metal electrode/thin solution-processed nanocomposite film of single wall carbon nanotubes (SWNTs) and a fluorescent polymer/insulator/transparent bottom electrode working under an alternating current (AC) electric field. A small amount of SWNTs that were highly dispersed in the fluorescent polymer matrix by a conjugate block copolymer dispersant significantly enhanced EL, and we were able to realize an SWNT-FPEL device with a light emission of approximately 350 cd/m(2) at an applied voltage of ±25 V and an AC frequency of 300 kHz. The brightness of the SWNT-FPEL device is much greater than those of other AC-based organic or even inorganic ELs that generally require at least a few hundred volts. Light is emitted from our SWNT-FPEL device because of the sequential injection of field-induced holes and then electron carriers through ambipolar carbon nanotubes under an AC field, followed by exciton formation in the conjugated organic layer. Field-induced bipolar charge injection provides great material design freedom for our devices; the energy level does not have to be aligned between the electrode and the emission layer, and the balance of the carrier injected and transported can be altered in contrast to that in conventional organic light-emitting diodes, leading to an extremely cost-effective and unified device architecture that is applicable to all red-green-blue fluorescent polymers.
A tunable SAW duplexer (2002)

The success of SAW technology for RF front end filtering in high performance hand held mobile phones and radios is well demonstrated. The small size, high rejection and relatively low insertion loss which can be achieved using SAW impedance resonators gives this technology a significant advantage over competing approaches. One of the remaining issues for SAW impedance resonator filters has been to further improve the performance margins, particularly in the case of pass band edge insertion loss, in order to reduce average insertion loss and improve manufacturing yield. This paper describes the development of a SAW duplexer component that tunes the response of the Tx filter over a frequency range in order to improve its effective performance. The duplexer is fabricated using multi-layer LTCC technology that permits the easy interconnection of numerous diverse components, including SAW filter die, inductors, transmission lines, capacitors and voltage variable capacitors. The duplexer is designed for the dual-mode AMPS/CDMA cellular system, i.e., for transmission in the band from 824-849 MHz and for reception in the band from 869-894 MHz. The duplexer is packaged in a 9 mm/spl times/10 mm/spl times/2.5 mm form factor, attains 0.8 dB minimum insertion loss in the Tx band and 1.0 dB average insertion loss and provides good return loss in a 50 ohm system. The duplexer can be tuned under software control through the use of external DC voltages which are readily available at the RF board.
Convolutional Sequence Generation for Skeleton-Based Action Synthesis (2019)

In this work, we aim to generate long actions represented as sequences of skeletons. The generated sequences must demonstrate continuous, meaningful human actions, while maintaining coherence among body parts. Instead of generating skeletons sequentially following an autoregressive model, we propose a framework that generates the entire sequence altogether by transforming from a sequence of latent vectors sampled from a Gaussian process (GP). This framework, named Convolutional Sequence Generation Network (CSGN), jointly models structures in temporal and spatial dimensions. It captures the temporal structure at multiple scales through the GP prior and the temporal convolutions; and establishes the spatial connection between the latent vectors and the skeleton graphs via a novel graph refining scheme. It is noteworthy that CSGN allows bidirectional transforms between the latent and the observed spaces, thus enabling semantic manipulation of the action sequences in various forms. We conducted empirical studies on multiple datasets, including a set of high-quality dancing sequences collected by us. The results show that our framework can produce long action sequences that are coherent across time steps and among body parts.
Highly scalable and CMOS-compatible STTM cell technology (2004)

The technological challenges associated with STTM (scalable two transistor memory) cells were reviewed. First of all, the basic operating principles of the memory cell are discussed. This is followed by the introduction of the memory array formation and co-process of the I/O transistor, applying a 0.24 /spl mu/m design rule test vehicle. A new cell structure of a surrounded gate STTM structure is introduced. In addition, the process technology and the performance of the memory cell are presented.
Development of a Challenge-Protective Vaccine Concept by Modification of the Viral RNA-Dependent RNA Polymerase of Canine Distemper Virus (2007)

We demonstrate that insertion of the open reading frame of enhanced green fluorescent protein (EGFP) into the coding sequence for the second hinge region of the viral L (large) protein (RNA-dependent RNA polymerase) attenuates a wild-type canine distemper virus. Moreover, we show that single intranasal immunization with this recombinant virus provides significant protection against challenge with the virulent parental virus. Protection against wild-type challenge was gained either after recovery of cellular immunity postimmunization or after development of neutralizing antibodies. Insertion of EGFP seems to result in overattenuation of the virus, while our previous experiments demonstrated that the insertion of an epitope tag into a similar position did not affect L protein function. Thus, a desirable level of attenuation could be reached by manipulating the length of the insert (in the second hinge region of the L protein), providing additional tools for optimization of controlled attenuation. This strategy for controlled attenuation may be useful for a "quick response" in vaccine development against well-known and "new" viral infections and could be combined efficiently with other strategies of vaccine development and delivery systems.