gebhart/patrepeval huggingface dataset:
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (2009)

Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79 exons over 2.2 Mb of genomic DNA). We report a very large aggregate data set comprised of DMD mutations detected in samples from patients enrolled in the United Dystrophinopathy Project, a multicenter research consortium, and in referral samples submitted for mutation analysis with a diagnosis of dystrophinopathy. We report 1,111 mutations in the DMD gene, including 891 mutations with associated phenotypes. These results encompass 506 point mutations (including 294 nonsense mutations) and significantly expand the number of mutations associated with the dystrophinopathies, highlighting the utility of modern diagnostic techniques. Our data supports the uniform hypermutability of CGA>TGA mutations, establishes the frequency of polymorphic muscle (Dp427m) protein isoforms and reveals unique genomic haplotypes associated with "private" mutations. We note that 60% of these patients would be predicted to benefit from skipping of a single DMD exon using antisense oligonucleotide therapy, and 62% would be predicted to benefit from an inclusive multiexonskipping approach directed toward exons 45 through 55.
Driving Toward Guiding Principles: A Goal for Privacy, Confidentiality, and Security of Health Information (1999)

As health care moves from paper to electronic data collection, providing easier access and dissemination of health information, the development of guiding privacy, confidentiality, and security principles is necessary to help balance the protection of patients' privacy interests against appropriate information access. A comparative review and analysis was done, based on a compilation of privacy, confidentiality, and security principles from many sources. Principles derived from ten identified sources were compared with each of the compiled principles to assess support level, uniformity, and inconsistencies. Of 28 compiled principles, 23 were supported by at least 50 percent of the sources. Technology could address at least 12 of the principles. Notable consistencies among the principles could provide a basis for consensus for further legislative and organizational work. It is imperative that all participants in our health care system work actively toward a viable resolution of this information privacy debate.
A Low Pressure Process for the Reduction of Nitriles. Use of Rhodium Catalyst1 (1960)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTA Low Pressure Process for the Reduction of Nitriles. Use of Rhodium Catalyst1Morris FreifelderCite this: J. Am. Chem. Soc. 1960, 82, 9, 2386–2389Publication Date (Print):May 1, 1960Publication History Published online1 May 2002Published inissue 1 May 1960https://pubs.acs.org/doi/10.1021/ja01494a067https://doi.org/10.1021/ja01494a067research-articleACS PublicationsRequest reuse permissionsArticle Views1203Altmetric-Citations64LEARN 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
Transformation of Maize Cells and Regeneration of Fertile Transgenic Plants (1990)

William J. Gordon-Kamm, T. Michael Spencer, Mary Lou Mangano, Thomas R. Adams, Richard J. Daines, William G. Start, James V. O'Brien, Sheryl A. Chambers, Whitney R. Adams, Jr., Nancy G. Willetts, Thomas B. Rice, Catherine J. MacKey, Roger W. Krueger, Albert P. Kausch, Peggy G. Lemaux, Transformation of Maize Cells and Regeneration of Fertile Transgenic Plants, The Plant Cell, Vol. 2, No. 7 (Jul., 1990), pp. 603-618
Single-shot compressive spectral imaging with a dual-disperser architecture (2007)

This paper describes a single-shot spectral imaging approach based on the concept of compressive sensing. The primary features of the system design are two dispersive elements, arranged in opposition and surrounding a binary-valued aperture code. In contrast to thin-film approaches to spectral filtering, this structure results in easily-controllable, spatially-varying, spectral filter functions with narrow features. Measurement of the input scene through these filters is equivalent to projective measurement in the spectral domain, and hence can be treated with the compressive sensing frameworks recently developed by a number of groups. We present a reconstruction framework and demonstrate its application to experimental data.
Estimating Quality of Playlists by Sight (2006)

The problem treated in this study is how to estimate the quality of playlists produced by an automatic playlist generator. Although a number of solutions have been offered on the topic of automatic playlist generation, very little work was published that regards evaluation of these systems. We are presenting here the experiments we did in order to establish whether a playlist can be evaluated by sight only, without listening, given that the songs are already known to the participants in the experiment. We also wanted to examine whether groupings of songs contribute to the playlist quality. The experiment was based on rating playlists of various origin. The result of the experiment was striking: the manually assembled playlists got the same ratings as the random ones. The answer to both questions seems to be negative. But this result revealed also some new important problems with playlist evaluation.
Structural Basis for Metal Ion Coordination and the Catalytic Mechanism of Sphingomyelinases D (2005)

Sphingomyelinases D (SMases D) from Loxosceles spider venom are the principal toxins responsible for the manifestation of dermonecrosis, intravascular hemolysis, and acute renal failure, which can result in death. These enzymes catalyze the hydrolysis of sphingomyelin, resulting in the formation of ceramide 1-phosphate and choline or the hydrolysis of lysophosphatidyl choline, generating the lipid mediator lysophosphatidic acid. This report represents the first crystal structure of a member of the sphingomyelinase D family from Loxosceles laeta (SMase I), which has been determined at 1.75-angstrom resolution using the "quick cryo-soaking" technique and phases obtained from a single iodine derivative and data collected from a conventional rotating anode x-ray source. SMase I folds as an (alpha/beta)8 barrel, the interfacial and catalytic sites encompass hydrophobic loops and a negatively charged surface. Substrate binding and/or the transition state are stabilized by a Mg2+ ion, which is coordinated by Glu32, Asp34, Asp91, and solvent molecules. In the proposed acid base catalytic mechanism, His12 and His47 play key roles and are supported by a network of hydrogen bonds between Asp34, Asp52, Trp230, Asp233, and Asn252.
Stereospecific and Kinetic Control over the Hydrolysis of a Sterically Hindered Platinum Picoline Anticancer Complex (1998)

The new anticancer complex cis-[PtCl2(15NH3)(2-picoline)] (1) and its 3-picoline analogue differ from cisplatin in reactivity. The hydrolysis rates for each chloride ligand of the two complexes and the pKa values of their aqua and diaqua adducts have been determined by [1H, 15N] 2 D NMR spectroscopy. These data, together with X-ray crystal structures, provide an explanation for the difference.
Cancer Immunotherapy by Retargeting of Immune Effector Cells via Recombinant Bispecific Antibody Constructs (2012)

Immunotherapy has emerged as an alternative strategy to treat malignancies in addition to conventional radio- and chemotherapy. There has been a plethora of evidence that the immune system is able to control tumor outgrowth and a number of strategies have been put forward to utilize this ability for immunotherapy. However, some of these strategies have not been very efficient and their success has been limited by tumor evasion mechanisms. A promising approach to engage effector cells of the immune system overcoming some of the escape mechanisms has been introduced more than two decades ago. This approach is based on bispecific antibodies. Here we summarize the evolution of bispecific antibodies, their improvement, remaining obstacles and some controversial reports.
Neurobeachin regulates neurotransmitter receptor trafficking to synapses (2012)

The surface density of neurotransmitter receptors at synapses is a key determinant of synaptic efficacy. Synaptic receptor accumulation is regulated by the transport, postsynaptic anchoring, and turnover of receptors, involving multiple trafficking, sorting, motor, and scaffold proteins. We found that neurons lacking the BEACH (beige-Chediak/Higashi) domain protein Neurobeachin (Nbea) had strongly reduced synaptic responses caused by a reduction in surface levels of glutamate and GABA(A) receptors. In the absence of Nbea, immature AMPA receptors accumulated early in the biosynthetic pathway, and mature N-methyl-d-aspartate, kainate, and GABA(A) receptors did not reach the synapse, whereas maturation and surface expression of other membrane proteins, synapse formation, and presynaptic function were unaffected. These data show that Nbea regulates synaptic transmission under basal conditions by targeting neurotransmitter receptors to synapses.
Electrochemical Preparation of Silicon and Its Alloys from Solid Oxides in Molten Calcium Chloride (2004)

Electroreduction, or electrodeoxidation, of pelleted SiO2 powder (left image) or its mixture with other metal oxide powders in molten CaCl2 produces pure Si powder (right image), or the respective silicon alloy powder. Being advantageous by simplicity and resulting in less CO2 emission, the electrochemical approach has an energy consumption that is below 13 kWh (kg of Si)−1.
Immunopathogenesis of falciparum malaria: implications for adjunctive therapy in the management of severe and cerebral malaria (2011)

Despite optimal antimalarial treatment and advances in malaria eradication, the mortality rate associated with severe malaria due to Plasmodium falciparum infection, including cerebral malaria (CM), remains unacceptably high. This suggests that strategies directed solely at parasite eradication may be insufficient to prevent neurological complications and death in all cases of CM. Therefore, there is an urgent need to develop innovative adjunctive therapeutic strategies to effectively reduce CM-associated mortality. CM pathogenesis is believed to be due, in part, to an aberrant host immune response to P. falciparum, resulting in deleterious consequences, including vascular activation and dysfunction. Development of effective and affordable therapeutic strategies that act to modulate the underlying host-mediated immunopathology should be explored to improve outcome. In this article, we summarize immunomodulatory therapies that have been assessed in clinical trials to date, and highlight novel and promising treatment strategies currently being investigated to address this major global health challenge.
PRODUCER'S SURPLUS AND RENTS IN THE U.S. DAIRY INDUSTRY (1992)

The term "producer's surplus" is commonly used in the economics literature to refer to gains from trade to the suppliers of a particular good. While common, the term has been applied ambiguously and seldom is defined in a consistent manner. This study provides a consistent and workable definition of the term "producer's surplus." In the short-run, producer's surplus is the sum of profit and quasi-rent that belongs to the firm or factor owners, or both, depending on the contract. In the long-run, it is a measure of the rents to specialized factors used in the production of the industry output, and is captured by the owners of the specialized factors. An application, using the long run concept of producer's surplus, is provided. Rents in the U.S. dairy industry during 1950-1989 are estimated, and specialized factors receiving these rents identified. The estimated rents, in constant 1967 dollars, ranged from 2285.1 million in 1952 to 1596.6 million in 1988. Two empirical models are constructed to test the relationship between the estimated rents and possible specialized factors in the dairy industry: land and dairy cows. The empirical results support the hypothesis that dairy cows are a specialized factor in the dairy industry, but reject a significant relationship for land. It is also shown that, in the dairy industry, rent dissipation through competition in the political market and inventive activity are relatively insignificant.
Synthesis of Phosphorus and Sulfur Heterocycles via Ring-Closing Olefin Metathesis (2004)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSynthesis of Phosphorus and Sulfur Heterocycles via Ring-Closing Olefin Metathesis†Matthew D. McReynolds, Joseph M. Dougherty, and Paul R. HansonView Author Information Department of Chemistry, University of Kansas, Lawrence, Kansas 66045 Cite this: Chem. Rev. 2004, 104, 5, 2239–2258Publication Date (Web):April 24, 2004Publication History Received19 December 2003Published online24 April 2004Published inissue 1 May 2004https://pubs.acs.org/doi/10.1021/cr020109khttps://doi.org/10.1021/cr020109kresearch-articleACS PublicationsCopyright © 2004 American Chemical SocietyRequest reuse permissionsArticle Views5577Altmetric-Citations562LEARN 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 SUBJECTS:Catalysts,Group 15 compounds,Metathesis,Organophosphorus compounds,Sulfones Get e-Alerts
Carbon‐13 NMR signals of some benzodiazepine drugs (1981)

Abstract Some carbon‐13 NMR signal assignments of diazepam, flurazepam, clonazepam and chlordiazepoxide have been revised and the assignments of nitrazepam are reported. The assignments of the various resonances were made by considering the changes in chemical shifts produced by the change of substituents and also by comparison with the chemical shifts of model compounds.
Surface-functionalized nanoparticles for biosensing and imaging-guided therapeutics (2013)

In this article, the very recent progress of various functional inorganic nanomaterials is reviewed including their unique properties, surface functionalization strategies, and applications in biosensing and imaging-guided therapeutics. The proper surface functionalization renders them with stability, biocompatibility and functionality in physiological environments, and further enables their targeted use in bioapplications after bioconjugation via selective and specific recognition. The surface-functionalized nanoprobes using the most actively studied nanoparticles (i.e., gold nanoparticles, quantum dots, upconversion nanoparticles, and magnetic nanoparticles) make them an excellent platform for a wide range of bioapplications. With more efforts in recent years, they have been widely developed as labeling probes to detect various biological species such as proteins, nucleic acids and ions, and extensively employed as imaging probes to guide therapeutics such as drug/gene delivery and photothermal/photodynamic therapy.
Use of a Small Molecule CCR5 Inhibitor in Macaques to Treat Simian Immunodeficiency Virus Infection or Prevent Simian–Human Immunodeficiency Virus Infection (2003)

Human immunodeficiency virus type 1 (HIV-1) fuses with cells after sequential interactions between its envelope glycoproteins, CD4 and a coreceptor, usually CC chemokine receptor 5 (CCR5) or CXC receptor 4 (CXCR4). CMPD 167 is a CCR5-specific small molecule with potent antiviral activity in vitro. We show that CMPD 167 caused a rapid and substantial (4-200-fold) decrease in plasma viremia in six rhesus macaques chronically infected with simian immunodeficiency virus (SIV) strains SIVmac251 or SIVB670, but not in an animal infected with the X4 simian-human immunodeficiency virus (SHIV), SHIV-89.6P. In three of the SIV-infected animals, viremia reduction was sustained. In one, there was a rapid, but partial, rebound and in another, there was a rapid and complete rebound. There was a substantial delay (>21 d) between the end of therapy and the onset of full viremia rebound in two animals. We also evaluated whether vaginal administration of gel-formulated CMPD 167 could prevent vaginal transmission of the R5 virus, SHIV-162P4. Complete protection occurred in only 2 of 11 animals, but early viral replication was significantly less in the 11 CMPD 167-recipients than in 9 controls receiving carrier gel. These findings support the development of small molecule CCR5 inhibitors as antiviral therapies, and possibly as components of a topical microbicide to prevent HIV-1 sexual transmission.
A Novel Core Fucose-specific Lectin from the Mushroom Pholiota squarrosa (2012)

Fucα1-6 oligosaccharide has a variety of biological functions and serves as a biomarker for hepatocellular carcinoma because of the elevated presence of fucosylated α-fetoprotein (AFP) in this type of cancer. In this study we purified a novel Fucα1-6-specific lectin from the mushroom Pholiota squarrosa by ion-exchange chromatography and affinity chromatography on thyroglobulin-agarose. The purified lectin was designated as PhoSL (P. squarrosa lectin). SDS-PAGE, MALDI-TOF mass spectrometry, and N-terminal amino acid sequencing indicate that PhoSL has a molecular mass of 4.5 kDa and consists of 40 amino acids (NH(2)-APVPVTKLVCDGDTYKCTAYLDFGDGRWVAQWDTNVFHTG-OH). Isoelectric focusing of the lectin showed bands near pI 4.0. The lectin activity was stable between pH 2.0 and 11.0 and at temperatures ranging from 0 to 100 °C for incubation times of 30 min. When PhoSL was investigated with frontal affinity chromatography using 132 pyridylaminated oligosaccharides, it was found that the lectin binds only to core α1-6-fucosylated N-glycans and not to other types of fucosylated oligosaccharides, such as α1-2-, α1-3-, and α1-4-fucosylated glycans. Furthermore, PhoSL bound to α1-6-fucosylated AFP but not to non-fucosylated AFP. In addition, PhoSL was able to demonstrate the differential expression of α1-6 fucosylation between primary and metastatic colon cancer tissues. Thus, PhoSL will be a promising tool for analyzing the biological functions of α1-6 fucosylation and evaluating Fucα1-6 oligosaccharides as cancer biomarkers.
Controlled Drug Release from Porous Polyelectrolyte Multilayers (2005)

Microporous and nanoporous polyelectrolyte multilayer films have been explored as ultrathin coatings for controlled drug release. Ketoprofen and cytochalasin D were successfully loaded into nanoporous films and showed zero-order release kinetics over a period of many days. In addition to homogeneous porous multilayers, heterostructures comprising porous regions stacked alternately with nonporous regions were assembled. The heterostructures behaved as dielectric mirrors, which made it possible to optically monitor the loading process. The effects of varying the number of layers in porous and nonporous regions as well as the pore size on the drug release properties were studied. Nonporous regions in the film had no effect on the release rate or duration of release. The amount of drug released could be tuned by varying the number of layers in the porous regions of films, and the release rate depended on the pore size in the films. Microporous multilayers exhibited a Fickian diffusion of drug that was approximately twice as fast as the corresponding nanoporous films. Finally, cell culture experiments with WT NR6 fibroblasts confirmed that cytochalasin D retained its ability to inhibit mitosis after release from the multilayers.
Purification and characterization of DNA polymerase III'. Identification of tau as a subunit of the DNA polymerase III holoenzyme. (1982)

DNA polymerase III', a new form of DNA polymerase III, has been purified 15,000-fold to 90% homogeneity from an Escherichia coli K12 strain. DNA polymerase III's is a subassembly of four subunits of the DNA polymerase III holoenzyme; it has functional and physical properties intermediate between the core DNA polymerase III and holoenzyme. Polyacrylamide gel electrophoresis performed under denaturing conditions indicates DNA polymerase III' to be a complex of the alpha, epsilon, and theta subunits of DNA polymerase III and a newly assigned subunit of the DNA polymerase III holoenzyme, tau (Mr = 83,000). Both gel filtration and phosphocellulose chromatography separate DNA polymerase III from DNA polymerase III'. All enzyme forms can utilize a duplex template containing short gaps. DNA polymerase III', like the DNA polymerase III holoenzyme, can synthesize DNA on a long single-stranded template in the presence of 5 mM spermidine; DNA polymerase III cannot. Alone, DNA polymerase III' is inert in the G4 natural replicative system in which the DNA polymerase III holoenzyme is active. Molecular weight and subunit stoichiometry determinations suggest that DNA polymerase III' contains two units of core DNA polymerase III and two tau subunits.
Inhibition of HIV-1 Tat-mediated LTR transactivation and HIV-1 infection by anti-Tat single chain intrabodies. (1995)

Genes encoding the rearranged immunoglobulin heavy and light chain variable regions of anti-HIV-1 Tat, exon 1 or exon 2 specific monoclonal antibodies have been used to construct single chain intracellular antibodies 'intrabodies' for expression in the cytoplasm of mammalian cells. These anti-Tat single chain intrabodies (anti-Tat sFvs) are additionally modified with a C-terminal human C kappa domain to increase cytoplasmic stability and/or the C-terminal SV40 nuclear localization signal to direct the nascent intrabody to the nuclear compartment, respectively. The anti-Tat sFvs with specific binding activity against the N-terminal activation domain of Tat, block Tat-mediated transactivation of HIV-1 LTR as well as intracellular trafficking of Tat in mammalian cells. As a result, the transformed lymphocytes expressing anti-Tat sFvs are resistant to HIV-1 infection. Thus, these studies demonstrate that stably expressed single chain intrabodies and their modified forms can effectively target molecules in the cytoplasm and nuclear compartments of eukaryotic cells. Furthermore, these studies suggest that anti-Tat sFvs used either alone or in combination with other genetically based strategies may be useful for the gene therapy of HIV-1 infection and AIDS.