gebhart/patrepeval huggingface dataset:
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan. (2004)

The spectrum of Wiskott-Aldrich syndrome (WAS) mutation in Han Chinese residing in Taiwan has not been previously reported. We describe a multidisciplinary approach to the molecular diagnosis of WAS which could be applied to clinical diagnosis, carrier prediction, and prenatal diagnosis. A total of 6 male patients, from 6 independent families, were referred for the molecular diagnosis of WAS. The respective methylation status of the 6 X chromosomes in peripheral blood leukocytes from obligatory female carriers was analyzed initially, followed by analysis of the level of expression of WAS protein (WASP) in peripheral leukocytes from patients, using a Western blotting technique. The analysis of the specific WAS gene mutation was done by direct sequencing. Mutations were identified in the WAS gene of all patients. Mutations identified included p.R13X, p.R41X, p.S82P, IVS1-1 G --> C, p.L342TFsX493, and a large deletion. Four patients had no WASP expression in peripheral leukocytes obtained before bone marrow transplantation. Several female carriers in the families of the 6 patients with such mutations were confirmed. One prenatal diagnosis was made in a fetus and he did not inherit the mutation. The importance of mutations in the first 2 exons of the WAS gene was demonstrated in this study, which represented 5 of the 6 mutations identified in 6 patients. The use of a multidisciplinary approach including DNA and protein analysis is required for molecular diagnosis and genetic counseling of WAS.
Structure and Morphology Changes during in Vitro Degradation of Electrospun Poly(glycolide-<i>co</i>-lactide) Nanofiber Membrane (2003)

Electrospun poly(glycolide-co-lactide) (PLA10GA90, LA/GA ratio 10/90) biodegradable nanofiber membranes possessed very high surface area to volume ratios and were completely noncrystalline with a relatively lowered glass transition temperature. These characteristics led to very different structure, morphology, and property changes during in vitro degradation, which were examined systematically. A shrinkage study showed that the electrospun crystallizable but amorphous PLA10GA90 membranes exhibited a very small shrinkage percentage when compared with the electrospun membranes of noncrystallizable poly(lactide-co-glycolide) (PLA75GA25, LA/GA 75/25) and poly(d,l-lactide). Although the weight loss of electrospun PLA10GA90 membranes exhibited a similar degradation behavior as cast thin films, detailed studies showed that the structure and morphology changes in electrospun membranes followed different pathways during the hydrolytic degradation. After 1 day of degradation in buffer solution at 37 °C, electrospun PLA10GA90 membranes exhibited a sudden increase in crystallinity and glass transition temperature, due to the fast thermally induced crystallization process. The continuous increase in crystallinity and apparent crystal size, as well as the decrease in long period and lamellae thickness, indicated that the thermally induced crystallization was followed by a chain cleavage induced crystallization process. The mass loss rate was accelerated after 6 days of degradation. The increase in glass transition temperature during this period further confirmed that the degradation of PLA10GA90 nanofibers was initiated from the amorphous region within the lamellar superstructures. A mechanism of structure and morphology changes during in vitro degradation of electrospun PLA10GA90 nanofibers is proposed.
Analogue sampled-data signal processing for VLSI using switched currents (1989)

Process parameters, particularly threshold voltage, will be chosen to optimise digital performance, and the performance of the op amps and analogue switches required to operate in the voltage domain will suffer. So, future analogue circuits for VLSI applications face both economic and technical difficulties, and this paper offers a solution using a new analogue sampled-data technique, called switched currents, requiring only a baseline digital process and avoiding many of the anticipated low voltage problems by operating in the current domain.
Genetic variation in lipid desaturases and its impact on the development of human disease (2010)

Perturbations in lipid metabolism characterize many of the chronic diseases currently plaguing our society, such as obesity, diabetes, and cardiovascular disease. Thus interventions that target plasma lipid levels remain a primary goal to manage these diseases. The determinants of plasma lipid levels are multi-factorial, consisting of both genetic and lifestyle components. Recent evidence indicates that fatty acid desaturases have an important role in defining plasma and tissue lipid profiles. This review will highlight the current state-of-knowledge regarding three desaturases (Scd-1, Fads1 and Fads2) and their potential roles in disease onset and development. Although research in rodent models has provided invaluable insight into the regulation and functions of these desaturases, the extent to which murine research can be translated to humans remains unclear. Evidence emerging from human-based research demonstrates that genetic variation in human desaturase genes affects enzyme activity and, consequently, disease risk factors. Moreover, this genetic variation may have a trans-generational effect via breastfeeding. Therefore inter-individual variation in desaturase function is attributed to both genetic and lifestyle components. As such, population-based research regarding the role of desaturases on disease risk is challenged by this complex gene-lifestyle paradigm. Unravelling the contribution of each component is paramount for understanding the inter-individual variation that exists in plasma lipid profiles, and will provide crucial information to develop personalized strategies to improve health management.
Mechanism of L-Threonine and L-Lysine Production by Analog-resistant Mutants of Corynebacterium glutamicum (1974)

Homoserine dehydrogenases and aspartokinases in L-threonine- or L-threonine and L-lysine-producing mutants derived from Corynebacterium glutamicum KY 9159 (Met-) were studied with respect to the sensitivity to the inhibition by end products, L-threonine and L-lysine. The activities of homoserine dehydrogenases in the mutants which produced L-threonine or L-threonine and L-lysine were slightly less susceptible to the inhibition by L-threonine than the activity in the parent strain, KY 9159. The aspartokinases in the threonine-producing mutants, KY 10484 and KY 10230, which were resistant to α-amino-β- hydroxylvaleric acid (AHV, a threonine analog) and more sensitive to thialysine (a lysine analog) than the parent, were sensitive to the concerted feedback inhibition by L-lysine and L-threonine by about the same degree as KY 9159. The aspartokinase in an AHV- and thialysine-resistant mutant, KY 10440, which was derived from KY 10484 and produced about 14mg/ml of L-threonine in a medium containing 10% glucose was less susceptible to the concerted feedback inhibition than KY 10484 or KY 9159, although the activity was still under the feedback control. In the parent strain, L-threonine activated aspartokinase activity in the absence of ammonium sulfate, an activator of the enzyme, but partially inhibited the activity in the presence of the salt. On the other hand, the enzyme of KY 10440 was activated by L-threonine either in the presence or in the absence of the salt. In another AHV- and thialysine-resistant mutant, KY 10251, which was derived from KY 10230 and produced both 9mg/ml of L-threonine and 5.5mg/ml of L-lysine, L-threonine and L lysine simultaneously added hardly inhibited the activity of aspartokinase. Implications of these results are discussed in relation to L-threonine or L-lysine production, AHV or thialysine resistance and regulation of L-threonine biosynthesis in these mutants.
Spinal Toll-like receptor signaling and nociceptive processing: Regulatory balance between TIRAP and TRIF cascades mediated by TNF and IFNβ (2013)

Toll-like receptors (TLRs) play a pivotal role in inflammatory processes, and individual TLRs have been investigated in nociception. We examined overlapping and diverging roles of spinal TLRs and their associated adaptor proteins in nociceptive processing. Intrathecal (IT) TLR2, TLR3, or TLR4 ligands (-L) evoked persistent (7-day) tactile allodynia (TA) that was abolished in respective TLR-deficient mice. Using Tnf(-/-) mice, we found that IT TLR2 and TLR4 TA was tumor necrosis factor (TNF) dependent, whereas TLR3 was TNF-independent. In Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein (TIRAP; Tirap(-/-)) mice (downstream to TLR2 and TLR4), allodynia after IT TLR2-L and TLR4-L was abolished. Unexpectedly, in TIR-domain-containing adapter-inducing interferon-β (Trif(lps2)) mice (downstream of TLR3 and TLR4), TLR3-L allodynia was abrogated, but intrathecal TLR4-L produced a persistent increase (>21days) in TA. Consistent with a role for interferon (IFN) β (downstream to TIR-domain-containing adapter-inducing IFNβ [TRIF]) in regulating recovery after IT TLR4-L, prolonged allodynia was noted in Ifnar1(-/-) mice. Further, IT IFNβ given to Trif(lps2) mice reduced TLR4 allodynia. Hence, spinal TIR domain-containing adaptor protein (TIRAP) and TRIF cascades differentially lead to robust TA by TNF-dependent and independent pathways, whereas activation of TRIF modulated processing through type I IFN receptors. Based on these results, we believe that processes leading to the activation of these spinal TLRs initiate TNF-dependent and -independent cascades, which contribute to the associated persistent pain state. In addition, TRIF pathways are able to modulate the TNF-dependent pain state through IFNβ.
Tyrosine and serine phosphorylation of α-synuclein have opposing effects on neurotoxicity and soluble oligomer formation (2009)

Mutations in the neuronal protein alpha-synuclein cause familial Parkinson disease. Phosphorylation of alpha-synuclein at serine 129 is prominent in Parkinson disease and influences alpha-synuclein neurotoxicity. Here we report that alpha-synuclein is also phosphorylated at tyrosine 125 in transgenic Drosophila expressing wild-type human alpha-synuclein and that this tyrosine phosphorylation protects from alpha-synuclein neurotoxicity in a Drosophila model of Parkinson disease. Western blot analysis of fly brain homogenates showed that levels of soluble oligomeric species of alpha-synuclein were increased by phosphorylation at serine 129 and decreased by tyrosine 125 phosphorylation. Tyrosine 125 phosphorylation diminished during the normal aging process in both humans and flies. Notably, cortical tissue from patients with the Parkinson disease-related synucleinopathy dementia with Lewy bodies showed less phosphorylation at tyrosine 125. Our findings suggest that alpha-synuclein neurotoxicity in Parkinson disease and related synucleinopathies may result from an imbalance between the detrimental, oligomer-promoting effect of serine 129 phosphorylation and a neuroprotective action of tyrosine 125 phosphorylation that inhibits toxic oligomer formation.
Complementary Switching in Oxide-Based Bipolar Resistive-Switching Random Memory (2012)

Resistive-switching random access memory (RRAM) devices utilizing a crossbar architecture represent a promising alternative for Flash replacement in high-density data storage applications. However, RRAM crossbar arrays require the adoption of diodelike select devices with high on-off -current ratio and with sufficient endurance. To avoid the use of select devices, one should develop passive arrays where the nonlinear characteristic of the RRAM device itself provides self-selection during read and write. This paper discusses the complementary switching (CS) in hafnium oxide RRAM, where the logic bit can be encoded in two high-resistance levels, thus being immune from leakage currents and related sneak-through effects in the crossbar array. The CS physical mechanism is described through simulation results by an ion-migration model for bipolar switching. Results from pulsed-regime characterization are shown, demonstrating that CS can be operated at least in the 10-ns time scale. The minimization of the reset current is finally discussed.
Early clinical experience with the multi-link coronary stent (1996)

The Multi-Link coronary stent (Advanced Cardiovascular Systems, Santa Clara, CA) is a balloon expandable stent carved from a stainless steel cylinder and is composed of 12 corrugated rings connected by multiple links. This design gives the stent great flexibility and conformity as well as radial strength. For the 3 month period from November 1995 to January 1996, all patients undergoing stent implantation in our institution were treated with this device, except for vessels smaller than 2.7 mm or larger than 3.7 mm in diameter, left main disease, or those who could not tolerate anticoagulation therapy. Forty patients, with a total of 42 arteries or 44 lesions, were treated with 56 stents, or 1.33 stents per artery. Clinical presentation included stable angina in 13 (32.5%), unstable angina in 24 (60%), acute myocardial infarction in 2 (5%), of whom 1 was in cardiogenic shock, and atypical symptoms with an abnormal thallium stress test in 1 (2.5%). According to the American College of Cardiology/ American Heart Association (ACC/AHA) classification, 8 lesions (18%) were type A, 14 (32%) type B1, 11 (25%) type B2, and 11 (25%) type C. Forty-three lesions (97.7%) were de novo and 1 (2.3%) restenotic. Stent delivery was successful in all patients. Complications included 1 balloon rupture at 7 atm but without sequelae, and 2 patients in whom the coronary guide wire became kinked and locked inside the catheter shaft of the stent delivery system but stent delivery was eventually successful. Mean diameter stenosis was reduced from 76 +/- 13% presenting to 2 +/- 9% poststenting and minimal lumen diameter increased from 0.87 +/- 0.38 to 2.82 +/- 0.34 mm. There were no acute-subacute stent thromboses, bleeding/vascular complications, or major cardiac events such as myocardial infarction, coronary artery bypass surgery, or death during a follow-up period of 2-5 months (mean 3.6 months). In conclusion, our early clinical experience with the Multi-Link stent is very encouraging, with a very high rate of successful delivery and minimal complications.
Kinetic Modeling of Methanol Transformation into Olefins on a SAPO-34 Catalyst (2000)

A kinetic model for the methanol to olefins (MTO) process on a catalyst based on a silicoaluminophosphate SAPO-34 has been proposed. The model takes into account four individual steps for the production of ethene, propene, butenes, and remaining hydrocarbons (pentenes + paraffins). The kinetic parameters have been obtained by experimentation in an isothermal fixed-bed reactor, in the 623−748 K range. In virtue of the results, it has been proven that the water introduced in the feed (required for attenuation of coke deactivation) inhibits olefin formation. This inhibition is taken into account in the kinetic model.
Apoptosis induction in human lung adenocarcinoma cells by oil‐soluble allyl sulfides: Triggers, pathways, and modulators (2009)

DAS (diallyl sulfide), DADS (diallyl disulfide), and DATS (diallyl trisulfide) are major oil-soluble allyl sulfides (OAS) that represent major garlic constituents. The anticarcinogenic and antimutagenic effects of these substances have been extensively studied during the last decades. Previous reports suggest that induction of apoptosis by OASs might contribute to their chemopreventive effects. In this study, we report that OASs DADS and DATS induce significant apoptosis in human lung adenocarcinoma A549 cells, whereas DAS does not. Differential modulation of reactive oxygen intermediates (ROI) and mitochondria membrane potential (MMP) may account for the apoptotic effects of DADS and DATS. The underlying molecular mechanisms of apoptosis induction by both compounds include activation of C-Jun N-terminal kinase (JNK), up-regulation of p53, and down-regulation of bcl-2 expression. In our test series, up-regulation of extracellular signal-regulated protein kinase (ERK) was dispensable for apoptosis induction; DAS, DADS, or DATS did not modify expression of MAPK p38, bax, and bcl-xL. Further investigation revealed that the specific JNK inhibitor SP600125 and the antioxidant NAC blocked DADS and DATS-induced apoptosis, whereas ERK inhibitors did not. Additionally, our data provide the first evidence that Fas-mediated cell death pathway is partly involved in DADS but not DATS-mediated cell death. Taken together, our work has elucidated the triggers, important modulators, and signal transduction pathways in DADS and DATS-mediated apoptosis.
Identification of molybdenum oxide nanostructures on zeolites for natural gas conversion (2015)

Direct methane conversion into aromatic hydrocarbons over catalysts with molybdenum (Mo) nanostructures supported on shape-selective zeolites is a promising technology for natural gas liquefaction. We determined the identity and anchoring sites of the initial Mo structures in such catalysts as isolated oxide species with a single Mo atom on aluminum sites in the zeolite framework and on silicon sites on the zeolite external surface. During the reaction, the initial isolated Mo oxide species agglomerate and convert into carbided Mo nanoparticles. This process is reversible, and the initial isolated Mo oxide species can be restored by a treatment with gas-phase oxygen. Furthermore, the distribution of the Mo nanostructures can be controlled and catalytic performance can be fully restored, even enhanced, by adjusting the oxygen treatment.
Evaluating Orange Growers' Exercise of Market Power with Marketing Order Volume Control Regulations (1992)

Previous studies have measured market power when firms consider the consequences of their actions on profits when deciding how much to produce or purchase or both. In contrast, this study illustrates how to measure the exercise of market power when growers collectively control the quantities sold to a market use via a Federal marketing order but exert no control on the quantities produced. The hypothesis that California-Arizona navel orange growers exercised some market power (but not complete monopolistic power) before 1983 could not be rejected. Growers exercised less market power from 1983 on when a USDA policy change curtailed growers' use of marketing order volume controls.
MAIL, a novel nuclear IκB protein that potentiates LPS‐induced IL‐6 production (2000)

We have identified and characterized a novel member of the ankyrin-repeat family named 'molecule possessing ankyrin-repeats induced by lipopolysaccharide' (MAIL). The C-terminal portion of MAIL shared high sequence homology with the I kappa B family. Intraperitoneal injection of lipopolysaccharide (LPS) into mice rapidly (<0.5 h) induced MAIL mRNA in various tissues, particularly in the spleen, lymph node, and lung. Ectopically expressed MAIL was localized in the nucleus, and remarkably potentiated the LPS-induced mRNA expression and secretion of interleukin (IL)-6 in Swiss 3T3 cells. These findings indicate that MAIL is one of the nuclear I kappa B proteins and an activator of IL-6 production.
Ultra slim packaging and assembly method for 360-μm diameter guide wires (2015)

In this work, we present an ultra-slim profile packaging and assembly solution of a 360-μm diameter medical guide wire fitted and integrated with silicon based fractional flow reserve (FFR) sensor. The miniaturization of the whole sensorized guide wire assembly without sacrificing its sensing functionality was made possible by the use of polyimide flexible printed circuit board (FPCB) as the substrate material for the silicon platform and by the use of lowest possible wire looping profile to create interconnection between the FFR sensor and the FPCB's bonding pads using the gold wires. In order to reinforce and protect the wire interfaces, as well as to maintain the required biocompatibility of the whole system, a thin layer of Polydimethylsiloxane (PDMS) was used for the encapsulation process. Long signal wires were then attached to the bonding pads of FPCB before finally fitted inside a miniaturized metal housing. This whole system has easily fit and integrated with the 360-μm diameter medical guide wire. In order to verify the packaging feasibility, the electrical short testing of the bonding pads and SEM observations were conducted.
Flexible and reliable robotics cells in factory automation (2002)

The paper describes design and implementation of low cost flexible production units for assembly, inspection and other sequential tasks while maintaining an open system architecture. Using device profiling all components of the cell are connected to the installation bus. Bus communications are managed by the production unit controller supervising the cell operation. Information is passed to higher layers of automation via an intelligent gateway.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">></ETX>
Epithelial-Specific Cre/lox Recombination in the Developing Kidney and Genitourinary Tract (2002)

Ksp-cadherin is a unique, tissue-specific member of the cadherin family of cell adhesion molecules that is expressed in tubular epithelial cells in the kidney and developing genitourinary (GU) tract. It has recently been shown that a 1341-bp fragment of the 5' flanking region containing the Ksp-cadherin gene promoter can recapitulate the complete expression pattern of the gene in the developing kidney and GU tract. Similar to the endogenous Ksp-cadherin gene, transgenes containing 1341 bp of the 5' flanking region are expressed in developing nephrons, ureteric bud, mesonephric tubules, Wolffian duct, and Müllerian duct. In adult mice, the expression is restricted to renal tubules. In the current study, Ksp1.3/Cre transgenic mice carrying 1329 bp of the Ksp-cadherin 5' flanking region linked to the Cre recombinase gene were produced. Adult transgenic mice expressed Cre recombinase in renal tubules, especially collecting ducts and thick ascending limbs of Henle's loops. Transgenic embryos expressed Cre recombinase in the branching ureteric bud, developing renal tubules, and sex ducts. Ksp1.3/Cre transgenic mice were crossed with mice carrying a lacZ reporter gene that is activated by Cre/lox-mediated genetic recombination. Bitransgenic progeny expressed lacZ exclusively in renal tubules, mesonephric tubules, ureteric bud, developing ureter, and Wolffian duct. These results demonstrate that Ksp1.3/Cre transgenic mice express Cre recombinase exclusively in the kidney and developing GU tract and can mediate epithelial-specific Cre/lox recombination in these tissues. Ksp1.3/Cre transgenic mice should be useful for cell lineage studies and kidney-specific gene targeting.