gebhart/patrepeval huggingface dataset:
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation (1994)

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
Cloning and sequencing of Escherichia coli murZ and purification of its product, a UDP-N-acetylglucosamine enolpyruvyl transferase (1992)

The Escherichia coli gene murZ, encoding the enzyme UDP-N-acetylglucosamine enolpyruvyl transferase, has been cloned and sequenced. Identified by screening an E. coli genomic library for clones that conferred phosphomycin resistance, murZ encoded a 419-amino-acid polypeptide and was mapped to 69.3 min on the E. coli chromosome. MurZ protein was purified to near homogeneity and found to have the expected UDP-N-acetylglucosamine enolpyruvyl transferase activity. Sequence analysis of the predicted product revealed 44% identity to OrfR from Bacillus subtilis (K. Trach, J.W. Chapman, P. Piggot, D. LeCoq, and J.A. Hoch, J. Bacteriol. 170:4194-4208, 1988), suggesting that orfR may also encode a UDP-N-acetylglucosamine enolpyruvyl transferase enzyme. MurZ is also homologous to the aromatic amino acid biosynthetic enzyme enolpyruvyl shikimate phosphate synthase, the other enzyme known to catalyze an enolpyruvyl transfer.
A Single-Phase Inverter System for PV Power Injection and Active Power Filtering With Nonlinear Inductor Consideration (2005)

This paper proposes a single-phase two-wire inverter system for photovoltaic (PV) power injection and active power filtering (APF) with nonlinear inductor consideration. The proposed system can fully or partially perform APF, process PV power, eliminate harmonic currents, improve power factor, and take into account the nonlinear effect of its output filter inductor. In the system, even though only the utility current is sensed, both APF and maximum power point tracking features can be still achieved, reducing the number of current sensors and cost significantly. To prevent output current from exceeding switch ratings, inverter current is properly controlled through a current estimator and a defined limit circle. A self-learning algorithm is also proposed to determine nonlinear inductance, which can increase the accuracy of the estimated current. Simulations and experimental results have verified the feasibility of the proposed PV inverter system and the algorithm.
The Principles and Procedures of Ultrasound-guided Anesthesia Techniques (2018)

For inexperienced users, training with phantoms is an important part of training. Inexperienced users can teach themselves to gain significant procedural skills. Participating in training courses or practising with experts can enhance the outcomes. Inexperienced users need to understand the indications, clinical pearls, and pitfalls of each procedure to avoid potential complications. Inexperienced users can also train and teach themselves to become proficient in ultrasound techniques.
Tel Aviv, 2004 (2005)

April 01 2005 Tel Aviv, 2004 Jessica Cohen Jessica Cohen Jessica Cohen is a product designer with a con-sulting office in Tel Aviv. She holds design degrees from Stanford University and U.C. Berkeley. She can be contacted at P.M. Box 176, 270 Redwood Shores Parkway, P.O. Box 29864, Redwood City, CA 94065, U.S.A., or P.O. Box 29864, Tel Aviv 61298, Israel. Web: www.jessicacohen.com. Search for other works by this author on: This Site Google Scholar Author and Article Information Jessica Cohen Jessica Cohen is a product designer with a con-sulting office in Tel Aviv. She holds design degrees from Stanford University and U.C. Berkeley. She can be contacted at P.M. Box 176, 270 Redwood Shores Parkway, P.O. Box 29864, Redwood City, CA 94065, U.S.A., or P.O. Box 29864, Tel Aviv 61298, Israel. Web: www.jessicacohen.com. Online Issn: 1530-9282 Print Issn: 0024-094X © 2005 ISAST2005 Leonardo (2005) 38 (2): 90–91. https://doi.org/10.1162/0024094053722408 Cite Icon Cite Permissions Share Icon Share MailTo Twitter LinkedIn Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Search Site Citation Jessica Cohen; Tel Aviv, 2004. Leonardo 2005; 38 (2): 90–91. doi: https://doi.org/10.1162/0024094053722408 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsLeonardo Search Advanced Search This content is only available as a PDF. © 2005 ISAST2005 Article PDF first page preview Close Modal You do not currently have access to this content.
The Role of CSF‐1 in Normal and Neoplastic Breast Physiology (1999)

Colony stimulating factor (CSF‐1) and its receptor (CSF‐1R, product of c‐ fms proto‐oncogene) were initially implicated as essential for normal monocyte development as well as for trophoblastic implantation. However, recent findings have suggested that CSF‐1 and CSF‐1R might have additional roles in mammary gland development during pregnancy and lactation. Studies with osteopetrotic ( op ‐ / op ‐ ) mice, which bear a specific mutation that inactivates the CSF‐1 gene, demonstrated that op ‐ / op ‐ mothers are incapable of normal milk production due to the incomplete development of their mammary glands during pregnancy. Also, significant increases in the levels of CSF‐1 and CSF‐1R proteins are observed in the epithelial cells of mammary gland during pregnancy and lactation. In vitro studies investigating the effect of the three major lactogenic hormones (prolactin, insulin, and glucocorticoids) on the expression of CSF‐1 and CSF‐1R have demonstrated that expression of CSF‐1 can be regulated by prolactin and insulin whereas CSF‐1R expression is regulated by glucocorticoids. This apparent role for CSF‐1/CSF‐1R in normal mammary gland development is very intriguing because this receptor/ligand pair has also been found to be important in the biology of breast cancer, where they regulate tumor cell invasion by a urokinase‐dependent mechanism. This review aims to summarize recent findings on the role of CSF‐1 and its receptor in normal and neoplastic mammary development which may elucidate potential relationships of growth factor‐induced biological changes in the breast during pregnancy and tumor progression.
ORTEP-3 for Windows - a version ofORTEP-III with a Graphical User Interface (GUI) (1997)

Computer Program Abstracts The category Computer Program Abstracts provides a rapid means of communicating up-to-date information concerning both new programs or systems and significant updates to existing ones. Following normal submission, a Computer Program Abstract will be reviewed by one or two members of the IUCr Commission on Crystallographic Computing. It should not exceed 500 words in length and should follow the standard format given on page 189 of the June 1985 issue of the Journal [J. Appl. CrysL (1985). 18, 189190] and on the World Wide Web at http://www.iucr. ac. uk/journals/jac/software/. Lists of software presented and~or reviewed in the Journal of Applied Crystallography are available on the World Wide Web at the above address, together with information about the availability of the software where this is known. J. App/. CrysL (1997). 30, 565 ORTEP-3 for Windows a version of ORTEP-III with a Graphical User Interface (GUI)
Tobramycin liposomes. Single subconjunctival therapy of pseudomonal keratitis. (1991)

The authors compared 24 doses of hourly topical fortified tobramycin (Group A) therapy with a single subconjunctival administration of multivesicular megaliposome-encapsulated tobramycin (Group B) and free subconjunctival tobramycin (Group C) in treating a rabbit model of keratitis caused by Pseudomonas aeruginosa. One cornea each of 50 rabbits was infected with P. aeruginosa for 24 hr. The animals then were divided randomly into five groups of ten each. Groups A, B, and C were treated as described. Group D received liposomes without tobramycin and Group E, hourly balanced salt solution. Significantly fewer Pseudomonas colonies were present in the corneas of all three drug-treated groups (A, B, and C) compared with the two control groups (D and E) at 24 hr (P less than 0.005). Significantly fewer Pseudomonas colonies were present in Groups A and B compared with Group C (P less than 0.02). No significant difference was noted between Groups A and B (P = 0.30). Tobramycin encapsulated in megaliposomes may be useful in treatment of pseudomonal keratitis.
Selective Immunoaffinity-Based Enrichment of CD34 + Cells Transduced with Retroviral Vectors Containing an Intracytoplasmatically Truncated Version of the Human Low-Affinity Nerve Growth Factor Receptor (ΔLNGFR) Gene (1997)

Human hematopoietic stem cells remain one of the most promising target cells for gene therapeutic approaches to treat malignant and nonmalignant diseases. To rapidly characterize transduced cells and to isolate these from residual nontransduced, but biologically equivalent, cells, we have used a Moloney murine leukemia virus (Mo-MuLV)-based retroviral vector containing the intracytoplasmatically truncated human low-affinity nerve growth factor receptor (deltaLNGFR) cDNA as a marker gene. Supernatant transduction of CD34+ cells (mean purity 97%) in fibronectin-coated tissue culture flasks resulted in 5.5-45% (mean 26%) transduced cells expressing deltaLNGFR (LNGFR+ cells). After transduction, more than 65% of the transduced cells remained CD34+. Compared with control (mock- and nontransduced) CD34+ cells, transduction did not decrease the cloning efficiency of CD34+ cells. Immunomagnetic selection of the transduced cells with a monoclonal anti-LNGFR antibody resulted in >90% LNGFR+ cells. Further phenotypic characterization of these highly enriched LNGFR+ cells indicated that the majority co-expressed the CD34 and CD38 antigens. These results show that transduced cells expressing an ectopic cell-surface protein can be rapidly and conveniently quantitated and characterized by fluorescence-activated cell sorting (FACS) analysis and fast and efficiently enriched by immunoadhesion using magnetic beads. The use of cell-surface reporters should facilitate optimization of methods of gene transfer into more primitive hematopoietic progenitors.
Diverse Plasmid DNA Vectors by Directed Molecular Evolution of Cytomegalovirus Promoters (2005)

Genetic vaccinations, gene therapy, and manufacturing of therapeutic proteins would benefit from promoter sequences that provide improved or prolonged expression levels. The cytomegalovirus (CMV) promoter is one of the most potent promoters known to date, and no previous examples of improved activity of this promoter by sequence mutagenesis have been reported. This study describes directed molecular evolution of CMV promoters derived from two human and two nonhuman primate strains of CMV by DNA shuffling and screening. Libraries of chimeric promoters were screened and analyzed for expression levels and immune responses, using plasmid DNA vectors encoding luciferase and beta-galactosidase. The results indicate that high functional diversity among CMV promoters can be generated, and the chimeric promoters selected after two rounds of DNA shuffling and particularly designed screening assays provided approximately 2-fold increased luciferase reporter gene expression and anti-beta-galactoside antibody response in vivo when compared with wild-type promoters. Sequence analysis of the shuffled promoters identified several mutations potentially contributing to the observed enhanced or reduced promoter activities and identified a 42-nucleotide region that appears obsolete for the functioning of the CMV promoter. Taken together, these data demonstrate the feasibility of generating diverse promoter sequences by DNA shuffling and screening methods, and provide novel structure- function information about CMV promoters. DNA shuffling and screening technologies provide a new approach to promoter optimization and development of optimal expression vectors for genetic vaccinations, gene therapy, and protein expression.
Antibiological barrier nanovector technology for cancer applications (2007)

The advent of sophisticated drug delivery strategies for cancer applications has inundated the scientific and clinical community with new tactics and approaches such as molecular targeting, nanotechnology-based methods and personalized therapies. Unfortunately, the clinical impact has been moderate at best, falling significantly short from revolutionizing existing chemotherapeutic methodologies. To this day, a cancer patient has a higher probability of receiving traditional systemically administered drugs than a more sophisticated targeted or nanotechnology-based therapeutic. This is not a reflection upon the novelty or quality of the technologies, but an indication of opportunity for a new approach that offers the realisation of the full potential of these scientific advances. This approach acknowledges the significance of the numerous biological barriers presented in the human body and their sequential nature. It is then recommended that computational mathematical tools are used to predict which nanovectors, surface modifications, therapeutic agents and penetration enhancers to use for a multi-stage drug delivery strategy. An approach where several stages of micro-/nano-vectors are nested within each other and delivered to overcome specific biological barriers to ultimately release a concentrated dose of a therapeutic payload at the intended lesion site. This novel, multi-stage strategy enables efficient localised delivery of chemotoxic drugs that may lead to significant improvements in therapy efficacy, reduced systemic toxicity and decreased total amount of injected drugs.
Frequent Co‐Alterations of TP53, p16/CDKN2A, p14ARF, PTEN Tumor Suppressor Genes in Human Glioma Cell Lines. (1999)

In this study we established the simultaneous status of TP53, p16, p14ARF and PTEN tumor suppressor genes in 34 randomly chosen human glioma cell lines. Nine cell lines (26.4%) harbored mutations or deletions in all four tumor suppressor genes and 22 cell lines (64%) had alterations in at least three. Mutations/deletions were found at the following frequencies: TP53 (76.5%), p14ARF (64.7%), p16 (64.7%), PTEN (73.5%). Thus, there was a high incidence of alterations in the cellular pathways involving the p53 transcription factor (94.1%), the retinoblastoma protein (64.7%) and the PTEN phosphatase (73.5%) and 91% of cell lines carried mutations in two or more pathways. This provides the first clear genetic evidence that these tumor suppressors participate in biological pathways which are functioning separately/independently in glioma cells. The status of the gene alterations did not correlate with tumorigenicity in immunocompromized mice or any clinical parameters. Although the mutation rate was higher in glioma cell lines than that reported for glioma tissues, the alterations were molecularly representative of those found in adult de novo glioblastoma. This study highlights the importance of developing therapeutic approaches applicable to tumors with a broad range of genetic alterations and also provides an invaluable panel of glioma cell lines to make this possible.
Meeting Report: The International Conference on Tumor Progression and Therapeutic Resistance (2005)

A multidisciplinary conference was held November 7 to 9, 2004 in Philadelphia, PA to focus on the problem of drug resistance in cancer. A great deal of knowledge is beginning to unravel the complex molecular and cellular changes associated with malignant tumor progression. With this comes many opportunities for therapeutic development. Featuring the latest tools, models, and research findings, this conference which included over 250 members of both academia and industry was a great opportunity to learn and develop new approaches and collaborations. The Keynote speaker was Dr. Robert Horvitz (Massachusetts Institute of Technology), who won the 2002 Nobel Prize in Medicine for his pioneering work on the cell death pathway in Caenorhabditis elegans. Speakers covered various aspects of tumor progression and therapy from simple models to clinical trials.
Characteristics of stroma-free hemoglobin prepared by crystallization. (1977)

Stroma-free hemoglobin was prepared from outdated human red cells by crystallization. After hemolysis with water and toluene and low speed centrifugation, the solution was dialyzed against 2.8M phosphate buffer. Hemoglobin crystals formed within the dialysis casing and were washed with phosphate buffer. After being dissolved in water, dialyzed against kidney dialysis fluid, and sterilized by Millipore filtration, the hemoglobin solution obtained had normal serum potassium, sodium, and osmolality. Spectral maxima and minima were characteristic for oxyhemoglobin, and cellulose acetate electrophoresis showed a sharp, well-defined hemoglobin band and slight contamination with carbonic anhydrase. The crystallized hemoglobin solution showed no coagulant activity, and preparation from group A cells showed no blood group A activity by hemagglutination inhibition. Methemoglobin was less than 0.28 gm./dl. and did not increase with storage at refrigerated temperature for a period up to 6 months. The P50 ranged between 15 and 18 mm. Hg at pH 7.4 and n values were normal.
Synthesis and Pharmacological Activity of O-(5-Isoxazolyl)-L-serine. (2000)

A novel isoxazole derivative, O-(5-isoxazolyl)-L-serine (OIS, 1), was synthesized by a Mitsunobu reaction of isoxazolin-5-one (4) with N-Boc-L-serine tert-butyl ester (5) and subsequent deprotection of the coupling product. Its structure was elucidated by spectroscopic analyses. The pharmacological activity of 1 was also examined with cloned glutamate receptors and transporters using a Xenopus oocyte-expressing system showing substrate activity on an excitatory amino acid carrier 1 (EAAC 1) as a glutamate transporter.
Chimeric antigen receptor (CAR)-engineered lymphocytes for cancer therapy (2011)

Because of recent advances in immunology, genetics and cell processing, CAR-modified T cells will likely play an increasing role in the cellular therapy of cancer, chronic infections and autoimmune disorders.
Infrared filters using metallic photonic band gap structures on flexible substrates (1997)

Metallic photonic band gap (MPBG) filter structures operating at far infrared wavelengths have been designed, fabricated, and characterized. The MPBGs are multilayer metallic meshes imbedded in a flexible polyimide dielectric. Depending on the periodic pattern of the metal grids, the filters have either simple high-pass or more complex transmission characteristics. The critical frequencies of the filters depend on the spatial periodicity of the metal grids and the interlayer separation. Optical transmission measurements on a high-pass structure show cutoff frequency of 3 THz and attenuation of more than 35 dB in the cutoff region, in good agreement with predicted results. Band-reject filters show similarly good attenuation and large fractional bandwidths. The filters maintain their optical characteristics after repeated bending, demonstrating mechanical robustness of the MPBG structure.
The Bronchoconstrictive Action of Evodiamine, an Indoloquinazoline Alkaloid Isolated from the Fruits of Evodia rutaecarpa, on Guinea-Pig Isolated Bronchus: Possible Involvement on Vanilloid Receptors (2000)

Evodiamine, a constituent of Evodiae Fructus (Evodia rutaecarpa Benth., Rutaceae), produced a bronchial contraction that is resistant to atropine and abolished by pretreatment with a mixture of the NK1 and NK2 receptor antagonists. Contractile responses to evodiamine were examined in guinea-pig isolated bronchus and compared with those to capsaicin. Both compounds evoked bronchial contraction in a concentration-dependent manner. Maximal contractions for evodiamine and capsaicin were observed at concentrations of 3 microM and 1 microM, respectively. Capsazepine (10 microM), an established antagonist of vanilloid receptor (capsaicin receptor), competitively inhibited the bronchial contraction evoked by evodiamine, suggesting that evodiamine activated vanilloid receptors. Evodiamine (3 microM) and capsaicin (1 microM) produced complete crossed tachyphylaxis. Both compounds desensitized tissues to subsequent additions of either evodiamine or capsaicin. These results suggest that the evodiamine-induced contractile response of the bronchus could be attributed to the resultant tachykinin release from sensory neurons by binding of evodiamine to vanilloid receptors. Rutaecarpine, which belongs to the same indoloquinazoline-type alkaloid as evodiamine, showed neither bronchoconstrictive, desensitizing effects nor vanilloid antagonistic effects at all the concentrations examined (up to 200 microM).
Effect of preoperative dexmedetomidine nebulization on the hemodynamic response to laryngoscopy and intubation: a randomized control trial (2020)

Nebulized dexmedetomidine at 1 µg/kg attenuated the increase in HR but not SBP following laryngoscopy and reduced the intraoperative anesthetic and analgesic consumption. There was no effect on early PONV, sore-throat, or increase in incidence of adverse effects. Nebulized dexmedetomidine may represent a favorable alternative to the intravenous route in short duration surgeries.
High-Fidelity Gates in a Single Josephson Qubit (2008)

We demonstrate new experimental procedures for measuring small errors in a superconducting quantum bit (qubit). By carefully separating out gate and measurement errors, we construct a complete error budget and demonstrate single qubit gate fidelities of 0.98, limited by energy relaxation. We also introduce a new metrology tool-- Ramsey interference error filter-that can measure the occupation probability of the state |2> which is outside the computational basis, down to 10{-4}, thereby confirming that our quantum system stays within the qubit manifold during single qubit logic operations.
Pharmacology and Physiology of Human Adrenergic Receptor polymorphisms (2003)

Adrenergic receptors are expressed on virtually every cell type in the body and are the receptors for epinephrine and norepinephrine within the sympathetic nervous system. They serve critical roles in maintaining homeostasis in normal physiologic settings as well as pathologic states. These receptors are also targets for therapeutically administered agonists and antagonists. Recent studies have shown that at least seven adrenergic receptor subtypes display variation in amino acid sequence in the human population due to common genetic polymorphisms. Variations in potential regulatory domains in noncoding sequence are also present. Here, we review the consequences of these polymorphisms in terms of signaling, human physiology and disease, and response to therapy.
Zirconia/Alumina Functionally Gradiented Composites by Electrophoretic Deposition Techniques (1993)

An electrophoretic deposition and sintering route was used to prepare YSZ/Al 2 O 3 composites with a compositional gradient. The YSZ content was continuously decreased from the YSZ‐rich surface to the Al 2 O 3 ‐rich surface, Microstructural and Vickers hardness (16–24 GPa) evidence tracked the compositional development, and the indentation fracture toughness was found to vary across the section (10–3 MPa·m 1/2 ).