gebhart/patrepeval huggingface dataset:
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome (2004)

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation. Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases. In mice, the orthologous Efnb1 gene is expressed in the frontonasal neural crest and demarcates the position of the future coronal suture. Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. We propose that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephrin-B1, an alternative mechanism maintains the normal boundary. This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis.
Endothelial activation and dysfunction in the pathogenesis of influenza A virus infection (2013)

The development of severe influenza has been attributed, in part, to a heightened innate immune response. Recent evidence suggests that endothelial activation, loss of barrier function, and consequent microvascular leak may also serve important mechanistic roles in the pathogenesis of severe influenza. The aim of this review is to summarize the current evidence in support of endothelial activation and dysfunction as a central feature preceding the development of severe influenza. We also discuss the effect of influenza on platelet-endothelial interactions.
Malignant and nonmalignant T cell lines from human T cell lymphotropic virus type I-negative patients with Sézary syndrome (1991)

The establishment of an in vitro model for cutaneous T cell lymphomas and Sézary syndrome has been difficult since T cells from individuals with these diseases do not proliferate in response to T cell mitogens. We found that conditioned media, collected from mitogen-activated PBMC from Sézary patients, contain an IL-2 receptor inducing factor. Despite their ostensible proliferative disorder, using a combination Sézary cell-conditioned media and rIL-2, we established IL-2 responsive, human T cell lymphotropic virus type I negative T cell lines from 23 patients, nine of which contain cells with the structural and/or genetic characteristics of neoplastic Sézary T cells.
A New Human DSG2-Transgenic Mouse Model for Studying the Tropism and Pathology of Human Adenoviruses (2012)

We have recently reported that a group of human adenoviruses (HAdVs) uses desmoglein 2 (DSG2) as a receptor for infection. Among these are the widely distributed serotypes HAdV-B3 and HAdV-B7, as well as a newly emerged strain derived from HAdV-B14. These serotypes do not infect rodent cells and could not up until now be studied in small-animal models. We therefore generated transgenic mice containing the human DSG2 locus. These mice expressed human DSG2 (hDSG2) at a level and in a pattern similar to those found for humans and nonhuman primates. As an initial application of hDSG2-transgenic mice, we used a green fluorescent protein (GFP)-expressing HAdV-B3 vector (Ad3-GFP) and studied GFP transgene expression by quantitative reverse transcription-PCR (qRT-PCR) and immunohistochemistry subsequent to intranasal and intravenous virus application. After intranasal application, we found efficient transduction of bronchial and alveolar epithelial cells in hDSG2-transgenic mice. Intravenous Ad3-GFP injection into hDSG2-transgenic mice resulted in hDSG2-dependent transduction of epithelial cells in the intestinal and colon mucosa. Our findings give an explanation for clinical symptoms associated with infection by DSG2-interacting HAdVs and provide a rationale for using Ad3-derived vectors in gene therapy.
Surrounding tissues affect the passive mechanics of the vessel wall: theory and experiment (2007)

The stress and strain in the vessel wall are important determinants of vascular physiology and pathophysiology. Vessels are constrained radially by the surrounding tissue. The hypothesis in this work is that the surrounding tissue takes up a considerable portion of the intravascular pressure and significantly reduces the wall strain and stress. Ten swine of either sex were used to test this hypothesis. An impedance catheter was inserted into the carotid or femoral artery, and after mechanical preconditioning pressure-cross-sectional area relations were obtained with the surrounding tissue intact and dissected away (untethered), respectively. The radial constraint of the surrounding tissue was quantified as an effective perivascular pressure on the outer surface of the vessel, which was estimated as 50% or more of the intravascular pressure. For carotid arteries at pressure of 100 mmHg, the circumferential wall stretch ratio in the intact state was approximately 20% lower than in the untethered state and the average circumferential stress was reduced by approximately 70%. For femoral arteries, the reductions were approximately 15% and 70%, respectively. These experimental data support the proposed hypothesis and suggest that in vitro and in vivo measurements of the mechanical properties of vessels must be interpreted with consideration of the constraint of the surrounding tissue.
UV Resonance Raman Study of β93-Modified Hemoglobin A:  Chemical Modifier-Specific Effects and Added Influences of Attached Poly(ethylene glycol) Chains (2001)

The reactive sulfhydryl group on Cys beta93 in human adult hemoglobin (HbA) has been the focus of many studies because of its importance both as a site for synthetic manipulation and as a possible binding site for nitric oxide (NO) in vivo. Despite the interest in this site and the known functional alterations associated with manipulation of this site, there is still considerable uncertainty as to the conformational basis for these effects. UV resonance Raman (UVRR) spectroscopy is used in this study to evaluate the conformational consequences of chemically modifying the Cys beta93 sulfhydryl group of both the deoxy and CO-saturated derivatives of HbA using different maleimide and mixed disulfide reagents. Included among the maleimide reagents are NEM (n-ethylmaleimide) and several poly(ethylene glycol) (PEG)-linked maleimides. The PEG-based reagents include both different sizes of PEG chains (PEG2000, -5000, and -20000) and different linkers between the PEG and the maleimide. Thus, the effect on the conformation of both linker chemistry and PEG size is evaluated. The spectroscopic results reveal minimal perturbation of the global structure of deoxyHbA for the mixed disulfide modification. In contrast, maleimide-based modifications of HbA perturb the deoxy T state of HbA by "loosening" the contacts associated with the switch region of the T state alpha(1)beta(2) interface but do not modify the hinge region of this interface. When the NEM-modified HbA is also subjected to enzymatic treatment to remove the C-terminal Arg alpha141 (yielding NESdes-ArgHb), the resulting deoxy derivative exhibits the spectroscopic features associated with a deoxy R state species. All of the CO-saturated derivatives exhibit spectra that are characteristic of the fully liganded R structure. The deoxy and CO derivatives of HbA that have been decorated on the surface with large PEG chains linked to the maleimide-modified sulfhydryl through a short linker group all show a general intensity enhancement of the tyrosine and tryptophan bands in the UVRR spectrum. It is proposed that this effect arises from the osmotic impact of a large, close PEG molecule enveloping the surface of the protein.
Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Syndrome (2002)

In Brief Diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic syndrome (HHS) are two acute complications of diabetes that can result in increased morbidity and mortality if not efficiently and effectively treated. Mortality rates are 2–5% for DKA and 15% for HHS, and mortality is usually a consequence of the underlying precipitating cause(s) rather than a result of the metabolic changes of hyperglycemia. Effective standardized treatment protocols, as well as prompt identification and treatment of the precipitating cause, are important factors affecting outcome.
Man versus model of man: A rationale, plus some evidence, for a method of improving on clinical inferences. (1970)

Clinical psychologists, physicians, and other professionals are typically called upon to combine cues to arrive at some diagnostic or prognostic decision. Mathematical representations of such clinical judges can often be constructed to capture critical aspects of their judgmental strategies. An analysis of the characteristics of such models permits a specification of the conditions under which the model itself will be a more valid predictor than will the man from whom it was derived. To ascertain whether such conditions are met in natural clinical decision making, data were reanalyzed from a study of the judgments of 29 clinical psychologists attempting to differentiate psychotic from neurotic patients on the basis of their MMPI profiles. The results of these analyses indicate that for this diagnostic task models of the men are generally more valid than the men themselves. Moreover, the finding occurred even when the models were constructed on a small set of cases, and then man and model com­ peted on a completely new set. A psychologist who works for a municipal Suicide Prevention Center uses the cues from telephone interviews to assess the probability that each of his callers will try to kill him­ self. A pathologist who works for a large Uni­ versity hospital uses medical laboratory find­ ings to assess the likelihood that each of his patients has a particular disease. A stock
Tunable Supercurrent Through Semiconductor Nanowires (2005)

Nanoscale superconductor/semiconductor hybrid devices are assembled from indium arsenide semiconductor nanowires individually contacted by aluminum-based superconductor electrodes. Below 1 kelvin, the high transparency of the contacts gives rise to proximity-induced superconductivity. The nanowires form superconducting weak links operating as mesoscopic Josephson junctions with electrically tunable coupling. The supercurrent can be switched on/off by a gate voltage acting on the electron density in the nanowire. A variation in gate voltage induces universal fluctuations in the normal-state conductance, which are clearly correlated to critical current fluctuations. The alternating-current Josephson effect gives rise to Shapiro steps in the voltage-current characteristic under microwave irradiation.
Cloning and characterization of a novel macrolide efflux gene, mreA, from Streptococcus agalactiae (1997)

A strain of Streptococcus agalactiae displayed resistance to 14-, 15-, and 16-membered macrolides. In PCR assays, total genomic DNA from this strain contained neither erm nor mef genes. EcoRI-digested genomic DNA from this strain was cloned into lambda Zap II to construct a library of S. agalactiae genomic DNA. A clone, pAES63, expressing resistance to erythromycin, azithromycin, and spiramycin in Escherichia coli was recovered. Deletion derivatives of pAES63 which defined a functional region on this clone that encoded resistance to 14- and 15-membered, but not 16-membered, macrolides were produced. Studies that determined the levels of incorporation of radiolabelled erythromycin into E. coli were consistent with the presence of a macrolide efflux determinant. This putative efflux determinant was distinct from the recently described Mef pump in Streptococcus pyogenes and Streptococcus pneumoniae and from the multicomponent MsrA pump in Staphylococcus aureus and coagulase-negative staphylococci. Its gene has been designated mreA (for macrolide resistance efflux).
Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes (2006)

For clinical follow-up, features of SDHB mutation-associated disease include a later age of onset, extraadrenal (abdominal or thoracic) tumors, and a higher rate of malignancy. In contrast, SDHD mutation carriers, in addition to head and neck paragangliomas, should be observed for multifocal tumors, infrequent malignancy, and the possibility of extraadrenal pheochromocytoma.
Autocannibalistic and Anyspace Indexing Algorithms with Applications to Sensor Data Mining (2009)

Efficient indexing is at the heart of many data mining algorithms. A simple and extremely effective algorithm for indexing under any metric space was introduced in 1991 by Orchard. Orchard's algorithm has not received much attention in the data mining and database community because of a fatal flaw; it requires quadratic space. In this work we show that we can produce a reduced version of Orchard's algorithm that requires much less space, but produces nearly identical speedup. We achieve this by casting the algorithm in an anyspace framework, allowing deployed applications to take as much of an index as their main memory/sensor can afford. As we shall demonstrate, this ability to create an anyspace algorithm also allows us to create auto-cannibalistic algorithms. Auto-cannibalistic algorithms are algorithms which initially require a certain amount of space to index or classify data, but if unexpected circumstances require them to store additional information, they can dynamically delete parts of themselves to make room for the new data. We demonstrate the utility of auto-cannibalistic algorithms in a fielded project on insect monitoring with low power sensors, and a simple autonomous robot application.
Allelic loss and prognosis in carcinoma of the uterine cervix (1998)

Cervical carcinomas develop as a result of multiple genetic alterations. As the genetic alterations are the cause of malignant transformation, it is likely that specific genetic alterations lead to specific clinical behaviour. The aim of this study was (i) to localise chromosome arms that harbour likely tumour-suppressor genes, by analysing loss of heterozygosity (LOH) and (ii) to study the association of LOH with clinicopathological parameters. To define the regions of interest, we studied the presence of loss of heterozygosity at all chromosomes in 67 cervical carcinomas (stages IB and IIA) with 81 polymorphic markers. In addition, all frequent allelic imbalances were correlated with HPV status and clinicopathologic parameters including survival, FIGO-stage, lymph-node metastasis, tumour size, number of mitoses, vaso-invasion and histologic type. LOH at a frequency over 25% was observed at sites on 9 chromosome arms: 3p21, 4p16.1-15, 6p, 6q22.3-23.1, 11q22-24, 15q11-21.1, 17p13.3, 18q22-qter and Xq. LOH of chromosome 6q14-16.2, 6p22 and 17p13 correlated marginally with HPV-16 positivity. LOH on chromosome 3p21 was weakly correlated with high mitotic activity, while LOH on chromosomes 11q23.3, 15q21.1 and 17p13 correlated with low mitotic activity. LOH at chromosome 17p13 associated marginally with FIGO stage I, while LOH at chromosome 15q associated weakly with FIGO stage II. When chromosome 18q showed LOH in the tumour, the patients had decreased survival (p = 0.024). We conclude that, in carcinoma of the uterine cervix, a novel tumour-suppressor gene may be present on chromosome 15q21 and that patients with LOH on chromosome 18q have relatively poor survival (p = 0.025). Int. J. Cancer (Pred. Oncol.) 79:411–417, 1998. © 1998 Wiley-Liss, Inc.
Gene Expression Profiling Identifies Platelet-Derived Growth Factor as a Diagnostic Molecular Marker for Papillary Thyroid Carcinoma (2004)

Platelet-derived growth factor may be a potential biomarker for PTC and follicular carcinoma. Expression profile analysis using a microarray followed by immunohistochemical study can be used to facilitate the development of molecular biomarkers for cancer.
A broadband vibro-impacting power harvester with symmetrical piezoelectric bimorph-stops (2011)

The certification of retrofitted structural health monitoring (SHM) systems for use on aircraft raises a number of challenges. One critical issue is determining the optimal means of supplying power to these systems, given that access to the existing aircraft power system is often problematic. Previously, the Australian Defence Science and Technology Organisation has shown that a structural strain-based energy harvesting approach can be used to power a device for SHM of aircraft structure. Acceleration-based power harvesting from airframes can be more demanding than a strain-based approach because the vibration spectrum of an aircraft structure can vary dynamically with flight conditions. A vibration spectrum with varying frequency may severely limit the energy harvested by a single-degree-of-freedom resonance-based device, and hence a frequency agile or (relatively) broadband device is often required to maximize the energy harvested. This paper reports on an investigation into the use of a vibro-impact approach to construct a piezoelectric-based kinetic power harvester that can operate in the approximate frequency range of 29–63 Hz.
Artificial Intelligence and the Mass Appraisal ofResidential Apartments (1992)

Introduces the theory of artificial neural networks (ANN). Discusses its application to the valuation of residential apartments. Compares the performance of the back propagation neural network (BP) model in estimating sale prices of apartments against the traditional multiple regression analysis (MRA) model. Concludes that the neural network model is an easy‐to‐use, black‐box alternative to the MRA model.
Bone marrow progenitor cells contribute to repair and remodeling of the lung and heart in a rat model of progressive pulmonary hypertension (2007)

Infusion of bone marrow stem or progenitor cells may provide powerful therapies for injured tissues such as the lung and heart. We examined the potential of bone marrow-derived (BMD) progenitor cells to contribute to repair and remodeling of lung and heart in a rat monocrotaline (MCT) model of pulmonary hypertension. Bone marrow from green fluorescent protein (GFP)-transgenic male rats was transplanted into GFP-negative female rats. The chimeric animals were injected with MCT to produce pulmonary hypertension. Significant numbers of male GFP-positive BMD cells engrafted in the lungs of MCT-treated rats. Microarray analyses and double-immunohistochemistry demonstrated that many of the cells were interstitial fibroblasts or myofibroblasts, some of the cells were hematopoietic cells, and some were pulmonary epithelial cells (Clara cells), vascular endothelial cells, and smooth muscle cells. A few BMD cells fused with pulmonary cells from the host, but the frequency was low. In the hypertrophied hearts of MCT-treated rats, we found a significant increase in the relative numbers of BMD cells in the right ventricle wall as compared with the left ventricle. Some of the BMD cells in the right ventricle were vascular cells and cardiomyocytes. We report BMD cardiomyocytes with a normal chromosome number, fusion of BMD cells with host cardiomyocytes, and, in some cases, nuclear fusion.
Signal sequences (1989)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSignal sequencesLila M. GieraschCite this: Biochemistry 1989, 28, 3, 923–930Publication Date (Print):February 7, 1989Publication History Published online1 May 2002Published inissue 7 February 1989https://pubs.acs.org/doi/10.1021/bi00429a001https://doi.org/10.1021/bi00429a001research-articleACS PublicationsRequest reuse permissionsArticle Views1058Altmetric-Citations389LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Expression of Activated Akt and PTEN in Malignant Melanomas : Relationship With Clinical Outcome (2005)

Our purpose was to analyze, by immunohisto-chemistry, the expression of activated serine-threonine protein kinase B (p-Akt) and phosphatase and tensin homologue deleted on chromosome 10 (PTEN) in benign nevi and primary and metastatic melanomas and to correlate the expression level with clinical variables. We observed cytoplasmic and/or nuclear expression of p-Akt in 22 (54%) of 41 benign nevi, 112 (71.3%) of 157 primary tumors, and 50 (71%) of 70 metastases. Cytoplasmic PTEN staining was observed in 0 (0%), 152 (87.7%), and 64 (90%) of 41 nevi, 162 primary tumors, and 71 metastases, respectively. A significant positive correlation was seen between PTEN and p-Akt cytoplasmic expression (P < .001) in primary melanomas. Cytoplasmic p-Akt expression showed a positive association with cyclin A in superficial spreading (P = .038) but not in nodular (P = .22) melanomas. Cytoplasmic p-Akt and PTEN expression did not have an impact on disease-free and overall survival, but complete lack of nuclear p-Akt expression was a predictor of shorter disease-free survival (P = .025) for patients with superficial spreading melanoma.
Effect of furosemide and the equine nasal strip on exercise-induced pulmonary haemorrhage and time-to-fatigue in maximally exercising horses (2004)

Furosemide (FUR) and the equine nasal strip (NS) decrease exercise-induced pulmonary haemorrhage (EIPH) compared with control (CON) conditions in the Thoroughbred horse during near-maximal running trials. As FUR and NS have potential performance-enhancing properties, we studied Thoroughbreds running to fatigue to test the hypothesis that time-to-fatigue (TTF) would be increased, yet EIPH reduced, in FUR and NS compared with CON. Thoroughbred geldings (n=6) were run to volitional fatigue on a level treadmill (1 m s−1 increment per minute from an initial trot) every two weeks (order randomized) under CON, NS, FUR (1 mg kg−1; 4 h prior) and FUR+NS conditions. Pulmonary arterial pressure (Ppa) and pulmonary gas exchange were measured throughout exercise, while arterial blood gases were sampled at the end of each 1-min stage. EIPH severity was quantified via bronchoalveolar lavage (BAL) at 30 min post-exercise. TTF was increased for all experimental conditions (i.e. an additional 20±13, 28±8 and 40±6 s for NS, FUR and FUR+NS, respectively; P 0.05) compared with CON (100.5±4.9 mmHg). All three experimental conditions exhibited a significant reduction in EIPH compared with CON (64.1±36.8× 6 red blood cells (RBCs) ml−1); however, no significant difference was noted between these conditions (×106 RBCs ml−1: 29.1±16.8, 20.9±13.1 and 26.7±19.8 for NS, FUR and FUR+NS, respectively). Furthermore, no differences for either end-exercise cardiorespiratory (i.e. V˙O2 or V˙CO2) or blood-borne metabolic (i.e. blood gases, lactate or pH) variables were observed. These findings demonstrate that both FUR and NS enhance TTF and reduce EIPH to a similar degree during high-speed treadmill running to fatigue.