gebhart/patrepeval huggingface dataset:
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome (2005)

Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable and includes involvement of the cardiovascular, skeletal, ocular, and other organ systems; however, the genotype-phenotype correlations have not been well developed. Various screening methods have led to the identification of about 600 different mutations (FBN1-UMD database; www.umd.be). In this study we performed SSCP and/or direct sequencing to analyze all 65 exons of the FBN1 gene in 116 patients presenting with classic MFS or related phenotypes. Twenty-nine novel and nine recurrent mutations were identified in 38 of the analyzed patients. The mutations comprised 18 missense (47%), eight nonsense (21%), and five splice site (13%) mutations. Seven further mutations (18%) resulted from deletion, insertion, or duplication events, six of which led to a frameshift and subsequent premature termination. Additionally, we describe new polymorphisms and sequence variants. On the basis of the data presented here and in a previous study, we were able to establish highly significant correlations between the FBN1 mutation type and the MFS phenotype in a group of 76 mutation-positive patients for whom comprehensive clinical data were available. Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration.
The miR-200 family determines the epithelial phenotype of cancer cells by targeting the E-cadherin repressors ZEB1 and ZEB2 (2008)

Cancer progression has similarities with the process of epithelial-to-mesenchymal transition (EMT) found during embryonic development, during which cells down-regulate E-cadherin and up-regulate Vimentin expression. By evaluating the expression of 207 microRNAs (miRNAs) in the 60 cell lines of the drug screening panel maintained by the Nation Cancer Institute, we identified the miR-200 miRNA family as an extraordinary marker for cells that express E-cadherin but lack expression of Vimentin. These findings were extended to primary ovarian cancer specimens. miR-200 was found to directly target the mRNA of the E-cadherin transcriptional repressors ZEB1 (TCF8/deltaEF1) and ZEB2 (SMAD-interacting protein 1 [SIP1]/ZFXH1B). Ectopic expression of miR-200 caused up-regulation of E-cadherin in cancer cell lines and reduced their motility. Conversely, inhibition of miR-200 reduced E-cadherin expression, increased expression of Vimentin, and induced EMT. Our data identify miR-200 as a powerful marker and determining factor of the epithelial phenotype of cancer cells.
Mll5 contributes to hematopoietic stem cell fitness and homeostasis (2008)

MLL5 is a novel trithorax group gene and a candidate tumor suppressor gene located within a 2.5-Mb interval of chromosome band 7q22 that frequently is deleted in human myeloid malignancy. Here we show that inactivation of the Mll5 gene in mice results in a 30% reduction in the average representation of hematopoietic stem cells and in functional impairment of long-term hematopoietic repopulation potential under competitive conditions. Bone marrow cells from Mll5-deficient mice were defective in spleen colony-forming assays, and the mutant mice showed enhanced susceptibility to 5-fluorouracil-induced myelosuppression. Heterozygous and homozygous Mll5 mutant mice did not spontaneously develop hematologic cancers, and loss of Mll5 did not alter the phenotype of a fatal myeloproliferative disorder induced by oncogenic Kras in vivo. Collectively, the data reveal an important role for Mll5 in HSC homeostasis and provide a basis for further studies to explore its role in leukemogenesis.
Exploring 1,2-Hydrogen Shift in Silicon Nanoparticles: Reaction Kinetics from Quantum Chemical Calculations and Derivation of Transition State Group Additivity Database (2009)

Accurate rate coefficients for 35 1,2-hydrogen shift reactions for hydrides containing up to 10 silicon atoms have been calculated using G3//B3LYP. The overall reactions exhibit two distinct barriers. Overcoming the first barrier results in the formation of a hydrogen-bridged intermediate species from a substituted silylene and is characterized by a low activation energy. Passing over the second barrier converts this stable intermediate into the double-bonded silene. Values for the single event Arrhenius pre-exponential factor, A, and the activation energy, E(a), were calculated from the G3//B3LYP rate coefficients, and a group additivity scheme was developed to predict A and E(a). The values predicted by group additivity are more accurate than structure/reactivity relationships currently used in the literature, which rely on a representative A value and the Evans-Polanyi correlation to predict E(a). The structural factors that have the most pronounced effect on A and E(a) were considered, and the presence of rings was shown to influence these values strongly.
Strong loss tolerance of electronic coin systems (1997)

Untraceable electronic cash means prepaid digital payment systems, usually with offline payments, that protect user privacy. Such systems have recently been given considerable attention by both theory and development projects. However, in most current schemes, loss of a user device containing electronic cash implies a loss of money, just as with real cash. In comparison with credit schemes, this is considered a serious shortcoming. This article shows how untraceable electronic cash can be made loss tolerant, i.e., how the monetary value of the lost data can be recovered. Security against fraud and preservation of privacy are ensured; strong loss tolerance means that not even denial of recovery is possible. In particular, systems based on electronic coins are treated. We present general design principles and options and their instantiation in one concrete payment system. The measures are practical.
Locating aircraft with space-based ADS-B (2013)

Space-based ADS-B can revolutionize air traffic management "ATC over remote areas is going to be revolutionized, because the ability to provide radar-like surveillance in these remote areas has never existed before”.
Observation de structures dissipatives dans le profil transverse d'intensité d'un laser saphir-titane (2010)

Nous décrivons l'observation expérimentale d'une grande variété de motifs transverses stables dans le profil d'intensité d'un laser saphire-titan continu. Nous étudions l'influence de la longueur de cavité et de la courbure des miroirs, ainsi que du taux de pompage. Les motifs observés sont indépendantes de la structure des modes transverses du résonateur et typiques de la morphogenèse dans les systèmes spatialement étendus.
An Approach to the Internal Rotation Problem (1963)

A method is described for a direct calculation of the barrier to internal rotation in ethane and ethanelike molecules. The approach suggested should identify the physical origin of the barrier, provided a satisfactory account would be forthcoming from exact Hartree—Fock calculations of the energies of the staggered and eclipsed forms in the Born—Oppenheimer approximation. A simple model is considered in which the electronic distribution is taken to be cylindrically symmetric about the central bond. It is demonstrated that this model predicts energy differences between staggered and eclipsed forms, composed solely of nuclear—nuclear repulsion energy, that are consistently about 5/3 of the experimental energy barriers. A slight expansion of the wavefunction in the eclipsed configuration is shown to be required by the virial theorem, but this does not appreciably change the predicted magnitude of the barrier. It is proposed that the model can be refined by a calculation of the electronic energies of the actual staggered and eclipsed forms of ethane relative to that for the cylindrical distribution. By means of second-order Hartree—Fock perturbation theory, it is shown that the energy differences are a simple sum of contributions from the nine occupied molecular orbitals. The individual contributions can be calculated by the solution of certain differential equations or their variational equivalent. To simplify the treatment further, an approximate set of uncoupled differential equations is suggested for finding the perturbed functions from estimates for the charge densities of the cylindrical-model molecular orbitals.
T cell receptor (TCR) Vβ gene usage in bronchoalveolar lavage and peripheral blood T cells from asthmatic and normal subjects (1998)

T cells are thought to play an important regulatory role in asthma, but little is known about the T cell repertoire of the human lung or whether asthma is associated with any specific repertoire changes. Flow cytometry and MoAbs to TCR VB (TCRBV) families were used to quantify bronchoalveolar lavage (BAL) and blood T cells from normal and atopic individuals. Clonality was then assessed by polymerase chain reaction (PCR) amplification of cDNA and gene scanning using consensus and family-specific TCRBV primers and confirmed by sequence analysis. In addition, blood and BAL T cell populations were studied pre- and post-allergen challenge in four patients with allergic asthma. The majority of TCRBV families detected in blood by MoAb staining were also represented in BAL. While differences between BAL and blood populations were evident in each individual studied, these differences were not consistent between individuals or between CD4+ and CD8+ T cell subpopulations. These results are in broad agreement with other published studies, but in contrast to previous work we found a consistent difference between TCRBV7 family usage in blood and BAL in all individuals studied, and a consistently increased proportion of CD4+ BAL T cells bearing BV5S2/3 in asthmatics only. After allergen challenge, the pattern of TCRBV gene usage was largely unchanged as judged by flow cytometry. Gene scanning of PCR products generated from consensus VB primers revealed polyclonal lymphocyte populations in blood and BAL from all seven atopic individuals: in one normal tested polyclonal populations were found in blood and oligoclonal populations in BAL. Selected families amplified with family-specific primers BV5S2/3, BV6 and BV7 (chosen because of their predominance in BAL compared with blood) were more variable and revealed predominant polyclonal populations in blood and polyclonal or oligoclonal populations in BAL. In one asthmatic patient a clonal BV5S2 family was found in BAL. Following allergen challenge there were no significant changes in polyclonality/oligoclonality/clonality in three cases, but in one case a clonal BV5S2 population was found after challenge, that had not been evident beforehand. The lung T cell repertoire is thus broadly representative of blood T cells, but shows population differences that may result from response to persistent exposure to airborne antigens common to normal and atopic individuals. Oligoclonal TCRBV family expansion appears to be primarily lung-specific but independent of atopic asthma, although our challenge data in one case support the concept that clonal populations may follow local allergen challenge. These data are consistent with selection and amplification of specific T cell families in the lung in response to local antigenic exposure.
Evanescent field characterisation of tapered optical fibre sensors in liquid environments using near field scanning optical microscopy and atomic force microscopy (1999)

Near-field scanning optical microscopy (NSOM) is used to measure the evanescent field surrounding a biconically tapered optical fibre sensor in air, water and dimethyl sulfoxide solution. These measurements are found to be in good agreement with those theoretically predicted using the finite difference - beam propagation method in combination with refractive and atomic force microscope measurements, demonstrating the validity of the model described for a number of environments.
Comprehensive Behavioral and Molecular Characterization of a New Knock-In Mouse Model of Huntington’s Disease: zQ175 (2012)

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive and psychiatric manifestations. Since the mutation responsible for the disease was identified as an unstable expansion of CAG repeats in the gene encoding the huntingtin protein in 1993, numerous mouse models of HD have been generated to study disease pathogenesis and evaluate potential therapeutic approaches. Of these, knock-in models best mimic the human condition from a genetic perspective since they express the mutation in the appropriate genetic and protein context. Behaviorally, however, while some abnormal phenotypes have been detected in knock-in mouse models, a model with an earlier and more robust phenotype than the existing models is required. We describe here for the first time a new mouse line, the zQ175 knock-in mouse, derived from a spontaneous expansion of the CAG copy number in our CAG 140 knock-in colony [1]. Given the inverse relationship typically observed between age of HD onset and length of CAG repeat, since this new mouse line carries a significantly higher CAG repeat length it was expected to be more significantly impaired than the parent line. Using a battery of behavioral tests we evaluated both heterozygous and homozygous zQ175 mice. Homozygous mice showed motor and grip strength abnormalities with an early onset (8 and 4 weeks of age, respectively), which were followed by deficits in rotarod and climbing activity at 30 weeks of age and by cognitive deficits at around 1 year of age. Of particular interest for translational work, we also found clear behavioral deficits in heterozygous mice from around 4.5 months of age, especially in the dark phase of the diurnal cycle. Decreased body weight was observed in both heterozygotes and homozygotes, along with significantly reduced survival in the homozygotes. In addition, we detected an early and significant decrease of striatal gene markers from 12 weeks of age. These data suggest that the zQ175 knock-in line could be a suitable model for the evaluation of therapeutic approaches and early events in the pathogenesis of HD.
On the Importance of the Molecular Core Interactions on the Induction of the High Optical Tilt Angle (2007)

Two smectogens being structural analogs with the opposite space orientation of the COO ester group in the molecular core exhibit extremely different tilt angles. A molecular mechanism of the induction of the high optical tilt angle is searched on the basis of extensive investigations of those compounds. Computer modeling of molecules and investigations of physical parameters of smectic phases were done. Different molecular aggregates forming smectic phases were observed. The size and shape of those aggregates are estimated on the basis of measurements and calculations. The different values of the tilt angles in studied compounds were discussed.
A New Technique for Measuring Velopharyngeal Orifice Area during Sustained Vowel Production: An Application of Aerodynamic Forced Oscillation Principles (1976)

A new technique for measuring velopharyngeal orifice area during sustained vowel production is described. The technique is based on a simple oscillatory flow balancing procedure between two aerodynamic branches, a mechanical model of the human upper airway and the subject's upper airway. The area of the velopharyngeal orifice in the model is adjusted until identical oscillatory flows traverse it and the subject's velopharyngeal orifice in response to a common forced oscillatory pressure. When identical oscillatory flows are observed, the area of the adjusted orifice is taken as a measure of the area of the subject's velopharyngeal orifice.
Human tumor testsystems: a new screening approach. (1986)

Recently, a new screening system which is mostly based on the use of human tumor material has been developed. This system uses various in vitro or in vivo test systems, such as the human tumor clonogenic assay, the subrenal capsule assay and the human tumor xenograft model to evaluate the potential clinical effectiveness of new drugs on human tumors. The predictive value of those test systems indicated by a reasonable correlation between test results and clinical activity has been shown in retrospective and even prospective clinical trials. To overcome the tumor heterogeneity and to circumvent the questionable preselection of drugs using fast proliferating tumors, this human tumor based test system uses a broad panel of slow proliferating human tumors which are established in nude mice to allow repeated tests. Recently some drugs being preferentially active in this human tumor based test system which are at the same time only marginally active in the usual NCI animal tumor screening system have been developed.
An intelligent system for document retrieval in distributed office environments (1986)

MINDS (Multiple Intelligent Node Document Servers) is a distributed system of knowledge-based query engines for efficiently retrieving multimedia documents in an office environment of distributed workstations. By learning document distribution patterns, as well as user interests and preferences during system usage, it customizes document retrievals for each user. A two-layer learning system has been implemented for MINDS. The knowledge base used by the query engine is learned at the lower level with the help of heuristics for assigning credit and recommending adjustments; these heuristics are incrementally refined at the upper level. © 1986 John Wiley & Sons, Inc.
Backside cooling solution for high power flip chip multi-chip modules (2002)

Future high performance workstations and server applications call for chips with high I/O count, high power dissipation and large number of high frequency interconnects. The packaging envisioned for delivering this performance is flip chip multichip modules (MCM). The high I/O requirements coupled with short net lengths are driving the substrate and interconnect technology. A typical MCM configuration is 1 or 2 VLSI and multiple cache RAMs, with MCM power dissipation of 150 to 200 W for a 2 VLSI configuration. The systems are forced air cooled, and the thermal solution has to be cost effective in the workstation marketplace. This paper describes an innovative thermal solution for cooling such a high power, high performance, advanced processor MCM. A physical configuration of an MCM that provides all the ingredients for building a high performance system is outlined. The area array dice are solder bumped and flip chip bonded on a ceramic substrate. The interchip connections are made with thin film copper/polyimide structures on the ceramic substrate. The substrate is assumed to be mullite. There are two 17 by 17 mm VLSIs' which dissipate 45 W each, and 16 SRAMs that dissipate 4 W each. The paper initially defines the cooling requirements and sets the targeted thermal resistances. The issues related to interfacing multiple dice are examined. A viable forced air cooling solution is proposed which uses a stock heatsink and an innovative die to heatsink interfacing scheme. The viability of the proposed solution is checked by a combination of experimentation to determine heatsink characteristics and computer simulation to map the temperature distribution.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">&gt;</ETX>
Superhigh CO2-Permeable Mixed Matrix Membranes Composed of a Polymer of Intrinsic Microporosity (PIM-1) and Surface-Modified Silica Nanoparticles (2019)

Polymer gas separation membranes, especially the mixed matrix membranes (MMMs) that consist of polymer matrix and additives, find important applications in carbon dioxide (CO2) separation or capture. Here we show the CO2 permeation properties of MMMs composed of a polymer of intrinsic microporosity (PIM-1) and nonporous silica nanoparticles modified with various organic moieties including terephthalic acid (TPA), 3,5-diaminobenzoic acid (DABA), and 3,5-dimethylbenzoic acid (DMBA). The MMM with a loading of 25 wt % DMBA-modified nanoparticles indicated outstanding CO2 permeability (7930 Barrer), which was more than 6 times higher than the original PIM-1 membrane (1250 Barrer), with only a 15% decrease in CO2/N2 selectivity (19.8 for PIM-1 membrane and 16.8 for the MMM). Physical aging in the PIM-1 membrane is well-known to reduce CO2 permeability in the short term significantly and limits the application to CO2 separation or capture; however, it was clear that the MMMs containing the DMBA-modified nanoparticles maintained the enhanced CO2 permeability without a decline in CO2/N2 selectivity after storing under ambient conditions for 60 days.
Audio Enancement using Nonlinear Time-Frequency Filtering (2005)

Forensic audio recordings may contain undesired noise that can impair source identification, speech recognition, and other audio processing requirements. In this paper several custom analysis/synthesis algorithms are presented based on a time-varying spectral representation of the noisy signal. The enhancement process adapts to the instantaneous signal behavior and alters the noisy signal so that the enhanced output signal is higher in quality than the unprocessed noisy input signal. Nonlinear and time-varying filters operate on the spectral representation in order to retain features that are attributable to the desired signal, such as human speech, while removing the features that are more likely to be due to the noise contamination.
A family of 3D lanthanide organic frameworks with tunable luminescence and slow magnetic relaxation (2015)

A family of 3D lanthanide organic frameworks with H<sub>2</sub>PIP has been synthesized and structurally characterized. The tunable luminescence and slow magnetic relaxation behaviour are investigated.
Plasma Concentrations of Angiogenesis-related Molecules in Patients with Pancreatic Cancer (2011)

The plasma levels of angiogenesis-related molecules were not elevated in patients with pancreatic cancer, compared with those with benign diseases or colorectal cancer. The plasma interleukin-8 level may be a novel biomarker for the response to chemotherapy in patients with pancreatic cancer and warrants further prospective study.
Integrated DTMF receiver (1979)

A single integrated-circuit receiver for telephone systems is described. A new detection algorithm allows for the proper detection of tones with exceptional insensitivity to speech.
ChemInform Abstract: Synthetic Approaches for Thymopentin (TP‐5) Using the “in situ” Silylation Strategy with Trimethylsilyl Cyanide. (1991)

Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.