gebhart/patrepeval huggingface dataset:
Melanocortin-4 Receptor Gene: Case-Control Study and Transmission Disequilibrium Test Confirm that Functionally Relevant Mutations Are Compatible with a Major Gene Effect for Extreme Obesity (2003)

We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study. A total of 16 different missense, nonsense, and frameshift mutations were found in the obese study group; five of these have not been observed previously. In vitro assays revealed that nine [the haplotype (Y35X; D37V) was counted as one mutation] of the 16 mutations led to impaired cAMP responses, compared with wild-type receptor constructs. In contrast, only one novel missense mutation was detected in the controls, which did not alter receptor function. The association test based on functionally relevant mutations was positive (P = 0.006, Fisher's exact test, one-sided). We proceeded by screening a total of 1040 parents of 520 of the aforementioned obese young index patients to perform transmission disequilibrium tests. The 11 parental carriers of functionally relevant mutations transmitted the mutation in 81.8% (P = 0.033; exact one-sided McNemar test). These results support the hypothesis that these MC4R mutations represent major gene effects for obesity.
Design, fabrication, and characterization of circular Dammann gratings based on grayscale lithography (2010)

We describe the design, fabrication, and experimental demonstration of a circular Dammann grating element generating a point-spread function of two concentric rings with equal intensity. The element was fabricated using grayscale lithography, providing a smooth and accurate phase profile. As a result, we obtained high diffraction efficiency and good uniformity between the two rings.
Effects of a Schlemm canal scaffold on collector channel ostia in human anterior segments (2013)

This study evaluates the morphologic effect of the implantation of two different sizes of the Hydrus microstent on the outer wall of Schlemm's canal (SC) and collector channel (CC) ostia. Twelve human eyes were dissected at the equator removing the iris, lens, ciliary body and vitreous. The cornea was excised with a corneal trephine exposing a direct view of the angle while leaving the trabecular meshwork (TM) intact. The Hydrus delivery system was used to deliver microstents of 8 mm and 15 mm in length into SC. Following delivery, the tissues were immediately immersed in fixative. After tissue fixation, the microstents were gently lifted out of SC through the TM leaving a small slit opening in the TM. The slit opening was widened by gently dissecting the entire TM. Control eyes underwent dissection before fixation by gently removing the TM exposing the outer wall of SC. The tissues were prepared for scanning electron microscopy (SEM). The external wall of SC was imaged using SEM and were reviewed with particular attention focused on the distribution of irregular particulate matter (IPM), the shape of the CC ostia and the health of the SC endothelium. Three eyes received the 8 mm microstent, two the 15 mm microstent and 6 eyes served as controls. Five of the controls had reported histories of glaucoma while all other eyes were normal. All eyes showed evidence of removal of the trabecular meshwork revealing the external wall of SC. CCs were regularly visible in all eyes and were not obstructed, compressed or their margins disrupted. Nuclear profiles were oriented circumferentially in SC except at regions of CC ostia where they assumed a radial configuration oriented toward the lumen of the CC. The area of microstent contact with SC external wall was examined with SEM and a comparison made between the 8 and 15 mm microstent showing a smaller area of indentation with the 8 mm microstent. The indentations were generally free of particulate debris, were smooth and were devoid of nuclear profiles. In bridged areas adjacent to areas of microstent contact, CCs were identified, appearing patent and intact like those of the control eyes. The eyes receiving 8 mm and 15 mm Hydrus microstents both maintained CC ostia patency but a smaller area of external wall contact was evident from insertion of the 8 mm microstent.
The HtrA (DegP) protein, essential for Escherichia coli survival at high temperatures, is an endopeptidase (1990)

As a preliminary step in the understanding of the function of the Escherichia coli HtrA (DegP) protein, which is indispensable for bacterial survival only at elevated temperatures, the protein was purified and partially characterized. The HtrA protein was purified from cells carrying the htrA gene cloned into a multicopy plasmid, resulting in its overproduction. The sequence of the 13 N-terminal amino acids of the purified HtrA protein was determined and was identical to the one predicted for the mature HtrA protein by the DNA sequence of the cloned gene. Moreover, the N-terminal sequence showed that the 48-kilodalton HtrA protein is derived by cleavage of the first 26 amino acids of the pre-HtrA precursor polypeptide and that the point of cleavage follows a typical target sequence recognized by the leader peptidase enzyme. The HtrA protein was shown to be a specific endopeptidase which was inhibited by diisopropylfluorophosphate, suggesting that HtrA is a serine protease.
BCR-ABL Regulates Phosphatidylinositol 3-Kinase-p110γ Transcription and Activation and Is Required for Proliferation and Drug Resistance (2005)

The BCR-ABL oncogene is the hallmark of chronic myeloid leukemia, a clonal hematopoietic stem cell disorder. BCR-ABL displays constitutive tyrosine kinase activity, required for its transformation ability. Although the molecular mechanisms behind this malignancy are not fully understood, a role for phosphatidylinositol (PI) 3-kinase has been repeatedly described. Here we report the specific up-regulation of the class I(B) catalytic subunit of PI 3-kinase (p110gamma) in response to BCR-ABL expression. We demonstrate that this upregulation is due to increased transcription and is dependent on both PI 3-kinase and MEK activity. We performed in vitro kinase activity assays and show that BCR-ABL also leads to increased p110gamma activity and that this activation requires both G protein-coupled receptor and Ras signaling. In addition, by transfection of cells with dominant negative p110gamma, we determined that this specific PI 3-kinase isoform is involved in both proliferation and the apoptosis resistance associated with chronic myeloid leukemia. The data presented here define for the first time the ability of BCR-ABL to alter the expression levels of PI 3-kinase isoforms and also demonstrate a previously unreported link between BCR-ABL and p110gamma.
Protocol of a Thromboembolic Stroke Model in the Rat (2002)

In this animal model, the situation of human cerebral ischemia is simulated closely. The model is suitable for investigations of the pathophysiology of stroke and facilitates studies on the effects of thrombolytic therapy.
PETS Metrics: On-Line Performance Evaluation Service (2006)

This paper presents the PETS Metrics On-line Evaluation Service for computational visual surveillance algorithms. The service allows researchers to submit their algorithm results for evaluation against a set of applicable metrics. The results of the evaluation processes are publicly displayed allowing researchers to instantly view how their algorithm performs against previously submitted algorithms. The approach has been validated using seven motion segmentation algorithms.
The oxygen‐responsive transcriptional regulator FNR of Escherichia coli : the search for signals and reactions (1997)

The FNR (fumarate and nitrate reductase regulation) protein of Escherichia coli is an oxygen-responsive transcriptional regulator required for the switch from aerobic to anaerobic metabolism. In the absence of oxygen, FNR changes from the inactive to the active state. The sensory and the regulatory functions reside in separate domains of FNR. The sensory domain contains a Fe-S cluster, which is of the [4Fe-4S]2+ type under anaerobic conditions. It is suggested that oxygen is supplied to the cytoplasmic FNR by diffusion and inactivates FNR by direct interaction. Reactivation under anoxic conditions requires cellular reductants. In vitro, the Fe-S cluster is converted to a [3Fe-4S]+ or a [2Fe-2S]2+ cluster by oxygen, resulting in FNR inactivation. After prolonged incubation with oxygen, the Fe-S cluster is destroyed. Reassembly of the [4Fe-4S]2+ cluster might require cellular proteins, such as the NifS-like protein of E. coli. In this review, the rationale for regulation of alternative metabolic pathways by FNR and other oxygen-dependent regulators is discussed. Only the terminal reductases of respiration, and not the dehydrogenases, are regulated in such a way as to achieve maximal H+/e- ratios and ATP yields.
mTOR: a pharmacologic target for autophagy regulation (2015)

mTOR, a serine/threonine kinase, is a master regulator of cellular metabolism. mTOR regulates cell growth and proliferation in response to a wide range of cues, and its signaling pathway is deregulated in many human diseases. mTOR also plays a crucial role in regulating autophagy. This Review provides an overview of the mTOR signaling pathway, the mechanisms of mTOR in autophagy regulation, and the clinical implications of mTOR inhibitors in disease treatment.
Is there a Thin Film of Air at the Interface between Water and Smooth Hydrophobic Solids? (2004)

ADVERTISEMENT RETURN TO ISSUEPREVCorrectionNEXTORIGINAL ARTICLEThis notice is a correctionIs there a Thin Film of Air at the Interface between Water and Smooth Hydrophobic Solids?Min Mao, Jinhong Zhang, Roe-Hoan Yoon, and William A. DuckerCite this: Langmuir 2004, 20, 10, 4310Publication Date (Web):May 4, 2004Publication History Published online4 May 2004Published inissue 1 May 2004https://pubs.acs.org/doi/10.1021/la040053khttps://doi.org/10.1021/la040053kcorrectionACS PublicationsCopyright © 2004 American Chemical Society. This publication is available under these Terms of Use. Request reuse permissions This publication is free to access through this site. Learn MoreArticle Views348Altmetric-Citations5LEARN 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 PDF (12 KB) Get e-AlertscloseSUBJECTS:Atmospheric chemistry,Bubbles,Interfaces,Optical properties,Salts Get e-Alerts
Neuroprotection against superoxide anion radical by metallocorroles in cellular and murine models of optic neuropathy (2010)

Corroles are tetrapyrrolic macrocycles that have come under increased attention because of their unique capabilities for oxidation catalysis, reduction catalysis, and biomedical applications. Corrole-metal complexes (metallocorroles) can decompose certain reactive oxygen species (ROS), similar to metalloporphyrins. We investigated whether Fe-, Mn-, and Ga-corroles have neuroprotective effects on neurons and correlated this with superoxide scavenging activity in vitro and in vivo. Apoptosis was induced in retinal ganglion cell-5 neuronal precursor cells by serum deprivation. Cell death was measured with sodium 3'-[1-[(phenylamino)-carbonyl]-3,4-tetrazolium]-bis (4-methoxy-6-nitro) benzene-sulfonic acid hydrate and calcein-AM/propidium iodide assays. Fe- and Mn-corroles, but not the non-redox-active Ga-corrole used as control, reduced RGC-5 cell death after serum deprivation. Serum deprivation caused increased levels of intracellular superoxide, detected by an increase in the fluorescence intensity of 2-hydroxyethidium, and this was blocked by Fe- and Mn-corroles, but not Ga-corrole. In vivo real-time confocal imaging of retinas after optic nerve transection assessed the superoxide production within individual rat retinal ganglion cells. Fe- and Mn-corroles, but not Ga-corrole, scavenged neuronal superoxide in vivo. Given that the neuroprotective activity of metallocorroles correlated with superoxide scavenging activity, Fe- and Mn-corroles could be candidate drugs for delaying neuronal death after axonal injury in optic neuropathies, such as glaucoma.
Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan (2007)

The study confirmed that these transporter genes are highly conserved, particularly in the coding sequences. Genetic variation in 4F2hc, LAT1, and LAT2 does not appear to be a major cause of inter-individual variability in pharmacokinetics and of adverse reactions to melphalan.
Modeling, control and experimental characterization of microbiorobots (2011)

In this paper, we describe how motile microorganisms can be integrated with engineered microstructures to develop a micro-bio-robotic system. SU-8 microstructures blotted with swarmer cells of Serratia Marcescens in a monolayer are propelled by the bacteria in the absence of any environmental stimulus. We call such microstructures with bacteria MicroBioRobots (MBRs) and the uncontrolled motion in the absence of stimuli self actuation. Our paper has two primary contributions. First, we demonstrate the control of MBRs using self actuation and DC electric fields, and develop an experimentally validated mathematical model for the MBRs. This model allows us to use self actuation and electrokinetic actuation to steer the MBR to any position and orientation in a planar micro channel. Second, we combine our experimental setup and a feedback control algorithm to steer robots with micrometer accuracy in two spatial dimensions. We describe the fabrication process for MBRs and show experimental results demonstrating actuation and control.
Novel TLE4‐NTRK2 fusion in a ganglioglioma identified by array‐CGH and confirmed by NGS: Potential for a gene targeted therapy (2018)

Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array-comparative genome hybridization (array-CGH). The deletion led to a novel molecular fusion (TLE4-NTRK2) which was confirmed by next generation sequencing and provides a potential for a gene-targeted therapy.
2‐Methoxy‐2,4‐diphenyl‐3(2H)‐furanone‐labeled gelatin zymography and reverse zymography: A rapid real‐time method for quantification of matrix metalloproteinases‐2 and ‐9 and tissue inhibitors of metalloproteinases (2005)

Measurement of matrix metalloproteinases (MMPs) and their specific tissue inhibitors of metalloproteinases (TIMPs) by the techniques of zymography and reverse zymography provide useful information regarding the status of matrix accumulation or breakdown. This report describes the use of 2-methoxy-2,4-diphenyl-3(2H)-furanone (MDPF), a fluorescent compound which can be used to label gelatin as a substrate for detection of the gelatin degrading MMP-2 and -9 by zymography. In addition, a modification of the zymographic technique by addition of excess MMPs enables the use of the MDPF-labeled gelatin substrate for the identification and quantification of TIMPs by reverse zymography. Both systems are real-time sensitive reliable quantification techniques, easily used for measurement of these MMPs and TIMPs in clinical, biological, and tissue culture samples.
Web home pages as advertisements (1999)

article Free Access Share on Web home pages as advertisements Authors: Surendra N. Singh Univ. of Kansas Univ. of KansasView Profile , Nikunj P. Dalal Oklahoma State Univ. Oklahoma State Univ.View Profile Authors Info & Claims Communications of the ACMVolume 42Issue 8Aug. 1999pp 91–98https://doi.org/10.1145/310930.310978Published:01 August 1999Publication History 105citation3,499DownloadsMetricsTotal Citations105Total Downloads3,499Last 12 Months388Last 6 weeks55 Get Citation AlertsNew Citation Alert added!This alert has been successfully added and will be sent to:You will be notified whenever a record that you have chosen has been cited.To manage your alert preferences, click on the button below.Manage my AlertsNew Citation Alert!Please log in to your account Save to BinderSave to BinderCreate a New BinderNameCancelCreateExport CitationPublisher SiteView all FormatsPDF
Superresolution in Optical Disk Systems with a Non-Linear Refractive Layer (1993)

We derived the optical transfer function in scanning optical microscopy which has the same properties as optical disk read-out systems, in the case where we observed an object coated with a non-linear refractive layer whose amplitude transmissivity depends on the incident light intensity, and showed that this cutoff frequency is higher than that of the case where we observed the object without the aid of a non-linear refractive layer.
THALIDOMIDE (2005)

RETURN TO ISSUEPREVNewsNEXTTHALIDOMIDEMAUREEN ROUHICite this: Chem. Eng. News 2005, 83, 25, 122Publication Date (Print):June 20, 2005Publication History Published online14 November 2010Published inissue 20 June 2005https://pubs.acs.org/doi/10.1021/cen-v083n025.p122https://doi.org/10.1021/cen-v083n025.p122newsACS PublicationsCopyright © 2005 AMERICAN CHEMICAL SOCIETYArticle Views92Altmetric-Citations11LEARN 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 options SUBJECTS:Pharmaceuticals Get e-Alerts
Probabilistic Automatic Red Eye Detection and Correction (2006)

In this paper we propose a new probabilistic approach to red eye detection and correction. It is based on stepwise refinement of a pixel-wise red eye probability map. Red eye detection starts with a fast non red eye region rejection step. A classification step then adjusts the probabilities attributed to the detected red eye candidates. The correction step finally applies a soft red eye correction based on the resulting probability map. The proposed approach is fast and allows achieving an excellent correction of strong red eyes while producing a still significant correction of weaker red eyes
Expression of active human blood clotting factor IX in transgenic mice: use of a cDNA with complete mRNA sequence (1987)

Haemophilia B is a bleeding disorder caused by a functional deficiency of the clotting factor IX. A full length human factor IX complementary DNA clone containing all the natural mRNA sequences plus some flanking intron sequences was constructed with a metallothionein promoter and introduced into transgenic mice by microinjection into the pronuclei of fertilised eggs. The transgenic mice expressed high levels of messenger RNA, gamma-carboxylated and glycosylated protein, and biological clotting activity that are indistinguishable from normal human plasma factor IX. This study demonstrates the feasibility of expressing highly complex heterologous proteins in transgenic mice. It also provides the groundwork for the production of large amounts of human factor IX in larger transgenic livestock for therapeutic use, and the investigation of alternative genetic therapies for haemophilia B.
Na+/H+ Exchanger-Regulatory Factor 1 Mediates Inhibition of Phosphate Transport by Parathyroid Hormone and Second Messengers by Acting at Multiple Sites in Opossum Kidney Cells (2003)

The opossum kidney (OK) line displays PTH-mediated activation of adenylyl cyclase and phospholipase C and inhibition of phosphate (Pi) uptake via regulation of the type IIa sodium-phosphate cotransporter, consistent with effects in vivo. OKH cells, a subclone of the OK cell line, robustly activates PTH-mediated activation of adenylyl cyclase, but is defective in PTH-mediated inhibition of sodium-phosphate cotransport and signaling via phospholipase C. Compared with wild-type OK cells, OKH cells express low levels of the Na+/H+ exchanger regulatory factor 1 (NHERF-1). Stable expression of NHERF-1 in OKH cells (OKH-N1) rescues the PTH-mediated inhibition of sodium-phosphate cotransport. NHERF-1 also restores the capacity of 8-bromo-cAMP and forskolin to inhibit Pi uptake, but the PTH dose-response for cAMP accumulation and inhibition of Pi uptake differ by 2 orders of magnitude. NHERF-1, in addition, modestly restores phorbol ester-mediated inhibition of Pi uptake, which is much weaker than that elicited by PTH. A poor correlation exists between the inhibition of Pi uptake mediated by PTH ( approximately 60%) and the inhibition mediated by phorbol 12-myristate 13-acetate ( approximately 30%) and the ability of these molecules to activate the protein kinase C-responsive reporter gene. Furthermore, we show that NHERF-1 directly interacts with type IIa cotransporter in OK cells. Although, PTH-mediated inhibition of Pi uptake in OK cells is largely NHERF-1 dependent, the signaling pathway(s) by which this occurs is still unclear. These pathways may involve cooperativity between cAMP- and protein kinase C-dependent pathways or activation/inhibition of an unrecognized NHERF-1-dependent pathway(s).
Plasmid-Encoded Diacetyl (Acetoin) Reductase in Leuconostoc pseudomesenteroides (2003)

A plasmid-borne diacetyl (acetoin) reductase (butA) from Leuconostoc pseudomesenteroides CHCC2114 was sequenced and cloned. Nucleotide sequence analysis revealed an open reading frame encoding a protein of 257 amino acids which had high identity at the amino acid level to diacetyl (acetoin) reductases reported previously. Downstream of the butA gene of L. pseudomesenteroides, but coding in the opposite orientation, a putative DNA recombinase was identified. A two-step PCR approach was used to construct FPR02, a butA mutant of the wild-type strain, CHCC2114. FPR02 had significantly reduced diacetyl (acetoin) reductase activity with NADH as coenzyme, but not with NADPH as coenzyme, suggesting the presence of another diacetyl (acetoin)-reducing activity in L. pseudomesenteroides. Plasmid-curing experiments demonstrated that the butA gene is carried on a 20-kb plasmid in L. pseudomesenteroides.