Miracle-dz/UniFAR-FTUs huggingface dataset:
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

Splicing mutations that lead to devastating genetic diseases are often located in nonconserved or weakly conserved sequences that normally do not affect splicing. Thus, the underlying reason for the splicing defect is not immediately obvious. An example of this phenomenon is observed in the neurodevelopmental disease familial dysautonomia (FD), which is caused by a single‐base change in the 5′ splice site (5′ss) of intron 20 in the IKBKAP gene (c.2204+6T>C). This mutation, which is in the sixth position of the intron and results in exon 20 skipping, has no phenotype in many other introns. To determine why the position 6 mutation causes aberrant splicing only in certain cases, we first used an in silico approach to identify potential sequences involved in exon 20 skipping. Computational analyses of the exon 20 5′ss itself predicted that this nine‐nucleotide splicing signal, even when it contains the T>C mutation, is not sufficiently weak to explain the FD phenotype. However, the computational analysis predicted that both the upstream 3′ splice site (3′ss) and exon 20 contain weak splicing signals, indicating that the FD 5′ss, together with the surrounding splicing signals, are not adequate for defining exon 20. These in silico predictions were corroborated using IKBKAP minigenes in a new rapid and simple in vitro coupled RNA polymerase (RNAP) II transcription/splicing assay. Finally, the weak splicing signals that flank the T>C mutation were validated as the underlying cause of familial dysautonomia in vivo using transient transfection assays. Together, our study demonstrates the general utility of combining in silico data with an in vitro RNAP II transcription/splicing system for rapidly identifying critical sequences that underlie the numerous splicing diseases caused by otherwise silent mutations. Hum Mutat 28(1), 41–53, 2007. © 2006 Wiley‐Liss, Inc.
A nonlinear incentive strategy for multi-stage Stackelberg games with partial information

In this paper we apply a kind of non-linear incentive strategy to solve the multi-stage Stackelberg games with partial information. This strategy depends on a parameter p, as p=¿, it becomes the affine strategy. In addition, by using this strategy, we can calculate the quantity of threat and we can show that the duration of punishment is only on those stages where the follower plays nonoptimally. We give illustrative examples and compare the quantity of threat in the case of partial information with that in the perfect information case.
Factors Behind Brand Switching in Cellular Networks

Factors affecting customer satisfaction has great importance in order to know the reasons and facts that are responsible behind switching in cellular network. Customers are satisfied, when their desires, wishes & needs are fulfill by any brand, used by them. In case of different brands of cellular network like ufone, factors like: Price, service quality, trust and brand loyalty play a great role in customer satisfaction & their brand switching. For this research study, the sample is taken from larkana city. The sample consists of the three batches of Shaheed Mohtarma Benazir Bhutto Medical University Larkana (SMBBMU) and BBA & MBA students of Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology Larkana (SZABIST). Total population consists of 1048 (738 from SMBBMU & 310 from SZABIST). The sample respondents are selected through convenience sampling technique, total sample size is of 104. The analysis of the data will be done through SPSS. Regression method will be used for research. This study will examine which factors influence more to customers in brand switching.
Expression of von Hippel-Lindau tumor suppressor and tumor-associated carbonic anhydrases IX and XII in normal and neoplastic colorectal mucosa.

AIM To analyze possible relationships between CA IX/CA XII and pVHL expression in normal and neoplastic colorectal mucosa. METHODS Immunohistochemical staining of 42 tissue specimens obtained from 17 cancer patients was performed to evaluate the distribution and semi-quantitatively assess the levels of CA IX, CA XII and pVHL. VHL mRNAs from 14 fresh-frozen tumors was amplified by RT-PCR and subjected to sequencing. CA9 and CA12 mRNA levels were analyzed by semi-quantitative RT-PCR in comparison with VEGF as an indicator of hypoxia that uncouples the pVHL control. RESULTS Tumor tissues were associated with a borderline increase of CA IX staining signal and slight but significant decrease of CA XII immunoreactivity, whereas no association was found for pVHL. Sequence analysis of RT-PCR-amplified VHL mRNAs revealed no deletions/mutations, suggesting that they were VHL-competent. We did not observe any correlation between pVHL and CA IX/CA XII proteins as well as between VEGF and CA9 mRNAs, but the tumor-associated changes in mRNA levels of VEGF and CA12 showed a significant inverse relationship. CONCLUSION Our results indicate that CA9 and CA12 are regulated by different intratumoral factors and that lack of apparent relationship between the levels of CA IX/CA XII and pVHL cannot be fully assigned to uncoupling of negative regulatory function of pVHL by tumor hypoxia signified by induced VEGF transcription. The interplay between the functional pVHL and CA IX/CA XII in colorectal tumors seems rather complex and is not evident merely at the expression levels.
Social Pain and the Brain: How Insights from Neuroimaging Advance the Study of Social Rejection and Variants of Normal

Participants who were excluded by being no one in a group wanted to work them ate more cookies in a taste-testing exercise who were told everyone in a group to work them 2005). Excluded participants also persisted less on a frustrating task and performed worse on a dichotic listening task compared to non-excluded participants (Baumeister et al., 2005). Self-regulation is critical in overcoming one’s impulses. Decreased ability to eat healthy foods despite their taste, as well as overcoming the desire to eat unhealthy foods and ignoring distractions, are prime examples of self-regulatory failure. Thus, these studies indicate that participants who have just experienced social exclusion are relatively more unwilling or unable to self-regulate effectively. insula, rACC, and decreased activity in the VLPFC, was consistent with previous research Yet, in region of interest analyses, self-reported distress was not related to activation in these areas during exclusion, as previous research would suggest. However, observer-rated distress was related to increased activity in the dACC and anterior insula and decreased activity in the VLPFC and ALPFC, which is consistent with previous research. These findings highlight the robustness of fMRI procedures to self-report biases. Last, the authors found that the more participants attributed the exclusion experience to racism, the less activation they experienced in the dACC during exclusion. This last finding suggests that attributing negative social events to discrimination provides a protective function, which allows the individual to better cope with the distress.
Experimental study of injected interference effects on modulated sidebands in CMOS LC VCO

This paper presents an experimental study on modulated sidebands in the output spectrum of a millimeter-wave (mm-wave) CMOS voltage controlled oscillator (VCO). The results are used to calculate the injected current into the resonant tank in dependence on its locking range. The evaluated parameters are a measure of the oscillator's sensitivity regarding injected periodic interferences. This is of interest when implemented in highly integrated systems, as e.g. in system-on-chip solutions.
High performance telephony speech recognition via cascade HMM/ANN hybrid

A new formulation for discriminative training of HMMs is introduced as a solution to telephony speech recognition problem. This formulation uses a properly trained MLP in a simple interconnection with HMMs called "cascade HMM/ANN hybrid". Our training algorithm has a simple realization in comparison with other discriminative training for HMMs such as MDI and MMI. We also present a rigid mathematical proof of its convergence. We found that using cascade HMM/ANN for telephony isolated word recognition results in increasing the recognition accuracy from 88.1% in classic HMMs to 98.1% using a two layer multilayer perceptron (MLP). This structure also reveals better robustness to ending point positions of the words in the presence of background noise, particularly for mobile telephone calls. No significant increase in computational requirements is needed in the recognition phase and the recognition task can still be performed in real-time. Both theoretical and experimental results are included in the paper.
Saturation of hepatic transport of taurocholate in rats in vivo.

A single intravenous injection of [14C]taurocholate was followed up in blood and bile of rats submitted to steady intravenous infusions of taurocholate (TC) at rates of 0.0, 0.5, 1.0, and 1.5 mumol.min-1.100 g body wt-1 for at least 30 min. The transport rate constants and the amounts of TC in different compartments were estimated by weighted least-squares adjustment of a six-compartment model to the experimental data (3 compartments for TC distribution in blood, 2 compartments for liver, and 1 compartment for sinusoidal blood space). The saturation of the TC excretion rate was reached at 0.8 mumol.min-1.100 g body wt-1. It was characterized by a decrease of both the uptake and excretion rate constants, by an increase of the ratio of the amounts of TC in the two intrahepatic compartments (H'/H), and by an intrahepatic TC concentration of approximately 2 mM. When tauroursodeoxycholate (TUDC) was infused at a rate of 0.5 mumol.min-1.100 g body wt-1 together with TC at a rate of 1.5 mumol.min-1.100 g body wt-1, the TC excretion rate increased to 1.2 mumol.min-1.100 g body wt-1, and the excretion rate constant and H'/H decreased toward control values. These results support the hypothesis that the saturation of the transport of TC is due to TC hepatotoxicity and can be reduced by TUDC. Michaelis-Menten parameters, derived from saturation curves for both uptake and excretion steps, closely matched earlier results, thus confirming the good descriptive capacity of the model.
Potential applications of reproductive and molecular genetic technologies in the selective breeding of aquaculture species.

The use of reproductive and genetic technologies can increase the efficiency of selective breeding programs for aquaculture species. Four technologies are considered, namely: marker-assisted selection, DNA fingerprinting, in-vitro fertilization, and cryopreservation. Marker-assisted selection can result in greater genetic gain, particularly for traits difficult or expensive to measure, than conventional selection methods, but its application is currently limited by lack of high density linkage maps and by the high cost of genotyping. DNA fingerprinting is most useful for genetic tagging and parentage verification. Both in-vitro fertilization and cryopreservation techniques can increase the accuracy of selection while controlling accumulation of inbreeding in long-term selection programs. Currently, the cost associated with the utilization of reproductive and genetic techniques is possibly the most important factor limiting their use in genetic improvement programs for aquatic species.
Percolative switching in transition metal dichalcogenide field-effect transistors at room temperature

We have addressed the microscopic transport mechanism at the switching or ‘on–off’ transition in transition metal dichalcogenide (TMDC) field-effect transistors (FETs), which has been a controversial topic in TMDC electronics, especially at room temperature. With simultaneous measurement of channel conductivity and its slow time-dependent fluctuation (or noise) in ultrathin WSe2 and MoS2 FETs on insulating SiO2 substrates where noise arises from McWhorter-type carrier number fluctuations, we establish that the switching in conventional backgated TMDC FETs is a classical percolation transition in a medium of inhomogeneous carrier density distribution. From the experimentally observed exponents in the scaling of noise magnitude with conductivity, we observe unambiguous signatures of percolation in a random resistor network, particularly, in WSe2 FETs close to switching, which crosses over to continuum percolation at a higher doping level. We demonstrate a powerful experimental probe to the microscopic nature of near-threshold electrical transport in TMDC FETs, irrespective of the material detail, device geometry, or carrier mobility, which can be extended to other classes of 2D material-based devices as well.
Repositório ISCTE-IUL

In the last few years, unmanned aerial vehicles (UAVs) have been standing out as a pervasive tool in numerous civil and commercial applications. Although different wireless technologies can be employed to establish communications between a UAV and a ground control station (GCS), most either limit the operational radius or increase substantially the complexity of the system. Taking into account insights from our own real-world experiments and studies carried out within the scope of the SAAS project from Instituto de Telecomunicações, in this article we discuss the use of mobile networks for low altitude air-to-ground (A2G) communications as a possible solution to provide extended mobility and range to operators and UAVs. Besides addressing the advantages and the associated constraints of using these networks, we propose a flexible architecture for multiple UAVs and GCSs. Although our experimental results have shown that current mobile networks can fulfil the basic requirements for many envisioned UAV applications, we discuss how the evolution towards 5G networks is expected to improve the support for reliable real-time A2G communications and even for air-to-air communications.
Analysis of apoptosis and cell proliferation after high intensity-focused ultrasound ablation combined with microbubbles in rabbit livers

Objective To analyze apoptosis and expression of proliferating cell nuclear antigen (PCNA) sequentially in the rabbit liver tissue after high-intensity focused ultrasound (HIFU) ablation combined with microbubbles. Methods Fifty rabbits were divided into two groups randomly. Rabbits in group I received injections with ultrasound contrast agent Sonovue, before HIFU ablation, on their livers and those in group II were ablated by a single HIFU exposure without microbubbles. Rabbits were killed on days 0, 1, 3, 7 and 14 after HIFU ablation. The livers were excised for light microscopic examination with hematoxylin and eosin staining, immunohistochemical staining for PCNA expression and terminal deoxynucleotidyl transferase-mediated biotin-dUTP nick end labeling (TUNEL) staining for apoptosis. Results A fibra tissue band composed of fibrocytes and capillary vessels, which was detected by light microscope in the rim of the targeted area after 3 days in group I, was wider than that in group II. The apoptosis index (the number of apoptotic events divided by the total cell number in the same field) and PCNA-positive index (the number of PCNA-positive cells divided by the total cell number in the same field) in group I on days 0, 1, 3, 7 and14 after HIFU ablation were higher than those in group II. Conclusion Microbubbles can improve the apoptosis and cell proliferation in zones surrounding coagulated necrosis areas after HIFU ablation, which may be explored to benefit enhanced HIFU treatment.
Surface roughness plays a key role on power factor of sub-50 nm thermoelectric devices

The effect of surface roughness becomes dominant in sub-50 nm scale ultra thin devices and play a crucial role in determining their transport properties. In this study, we theoretically investigate the influence of surface roughness effects on the thermopower of the device subjected to a temperature gradient by using non equilibrium green function formalism. For systematic investigations the variations in thickness due to surface roughness have been modeled with a square wave profile characterized with three parameters: amplitude A0, crest width λb and trough width λw. The investigations show that fluctuations in the thickness due to surface roughness result in alternate regions of low and high quantum confinement which cause the electrons to flow in higher energy levels. Thus higher voltages are required to nullify the current flowing due to temperature gradient resulting in Seebeck coefficient to increase. It is observed that conductance of the channel due to surface roughness effects decreases more than the increase in Seebeck coefficient and hence the power factor determined by the product of conductance and Seebeck coefficienent decreases.
[Study on the correlation between different Chinese medicine syndrome types and endocrine metabolism of polycystic ovarian syndrome].

OBJECTIVE To explore the correlation between different Chinese medicine syndrome types and endocrine metabolism of polycystic ovarian syndrome (PCOS). METHODS 223 PCOS patients were recruited. Of tem, 109 patients were classified as Pi deficiency type (PDT), 56 as Gan deficiency type (GDT), and 58 as Shen deficiency type (SDT). And twenty healthy females of the same age ranges were enrolled as the control group. The body mass index (BMI) and waist hip ratio (WHR) were measured. Serum levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone (T), prolactin (PRL), sex hormone binding globulin (SHBG), fasting blood sugar (FBG), fasting insulin (FINS), lipids [total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL)], and leptin were detected. The intergroup difference of each index was compared. RESULTS Higher results of leptin, FINS, HOMA-IRI, T, LH/FSH ratio were obtained in the three PCOS groups than in the control group, while the level of SHBG was lower in the three PCOS groups than in the control group (P<0.05, P<0.01). There was no statistical difference in the leptin level among the three PCOS groups. Higher levels of FINS and HOMA-IRI were shown in the PDT group than in the SDT group and the GDT group (P<0.05, P<0.01). Higher T and LH/FSH were shown in the SDT group than in the PDT group and the GDT group (P<0.05). Higher PRL levels were obtained in the GDT group than in the PDT group and the SDT group (P<0.01). CONCLUSION Disorders of serum leptin and SHBG were the common pathological manifestations in different syndrome types of PCOS, while different syndrome types had specific endocrine metabolic features.
Improving Medium Access in Single-Destination Networks with Heterogeneous Propagation Channels

This paper studies coverage probabilities of randomly deployed radio nodes in single-destination networks. Such networks are typically operated for data aggregation in machine-to-machine (M2M) communication scenarios. In large-scale deployments, diverse environments usually result in heterogeneous propagation channels. We address the question to which extent an increased medium access can compensate for impaired propagation conditions. Based on superimposed Poisson Point Processes and a strongest interferer approximation, we propose a closed-form solution for the probability of a successful packet transmission under heterogeneous channel conditions. The applicability of the framework is demonstrated for an exemplary network configuration with a given latency constraint. Jointly optimising the medium access probabilities can either increase the network coverage area (e.g. by factor two) or reduce the overall networks power consumption by up to more than 30% in sufficiently dense deployments.
Understanding the degree distribution pattern of protein-protein interaction networks

This paper aims to find the reason why protein-protein interaction networks present a unique degree distribution pattern, where the majority of the proteins are sparsely connected, while densely-connected proteins also exist. This paper proposes the random duplication graph model to depict protein-protein interaction networks, where the gene duplication process is modeled as random vertex duplication. And we show that it is the gene duplication process combined with the sparsely-connected initial condition that leads to the unique degree distribution pattern of protein-protein interaction networks. In addition, we make a further prediction based on our degree distribution function: as the gene duplication process proceeds, the percentage of densely-connected proteins becomes higher.
Oxygen uptake kinetics in response to exercise in patients with pulmonary vascular disease.

The increase in muscular oxygen consumption that accompanies the onset of exercise is accomplished by increases in blood flow and arterial-venous O2 difference. These processes are reflected in a similar increase in pulmonary oxygen uptake (VO2), which rises in a dynamic pattern having two components and with an overall time course that may be characterized as an exponential. Because the immediate determinants of VO2 are the blood flow and respiratory gas composition in the pulmonary circulation, it was hypothesized that VO2 kinetics at exercise onset would be abnormal in patients with pulmonary vascular disease. To test this, 10 patients with pulmonary hypertension and two with pulmonary hypoperfusion caused by congenital heart disease performed constant work rate (15 +/- 16 SD watt) exercise on an upright cycle ergometer, with breath-by-breath measurement of respiratory gas exchange for determination of VO2 kinetics. The phase I increase in VO2, comprising approximately the first 30 s of exercise, was small (18 +/- 15 SD % above resting VO2). The time constant for the phase II increase in VO2 averaged 74 +/- 16 s, and the mean response time for attainment of the exercise steady state (75 +/- 17 SD s) was prolonged compared with normal values for the same work rate exercise (approximately 100 to 130% increase in phase I, and mean response time less than 25 s). In two patients who underwent surgical procedures substantially improving pulmonary hemodynamics, VO2 kinetics also improved. These findings are consistent with the concept that VO2 kinetics may be limited by pulmonary hemodynamics in the presence of disease. (ABSTRACT TRUNCATED AT 250 WORDS)
Design and Calibration of Three-Axial Inertial Motion Sensor

In this paper the design and calibration of a three-axial inertial motion sensor is presented. The sensor is aimed at measuring the linear acceleration and angular velocity during motion in 3-D space. The sensor is designed as a miniature device convenient for usage in automotive or biomechanical analyses. The calibration procedure enables the computation of acceleration of an arbitrary point on a rigid body in the case when the sensor is fixed with the body. The experimental results acquired during motion and compared to the reference kinematic measurement prove the functionality of the sensor and adequacy of the proposed method