gebhart/patrepeval huggingface dataset:
Recurrent deletions of ULK4 in schizophrenia: a novel gene crucial for neuritogenesis and neuronal motility (2013)

Although many pathogenic copy number variations (CNVs) are associated with neuropsychiatric diseases, few of them have been functionally characterised. Here we report multiple schizophrenia cases with CNV abnormalities specific to unc-51-like kinase 4 (ULK4), a serine/threonine kinase gene. Deletions spanning exons 21-34 of ULK4 were present in 4 out of 3391 schizophrenia patients from the International Schizophrenia Consortium, but absent in 3181 controls. Deletions removing exons 33 and 34 of the large splice variant of ULK4 also were enriched in Icelandic schizophrenia and bipolar patients compared with 98,022 controls (P = 0.0007 for schizophrenia plus bipolar disorder). Combining the two cohorts gives a P-value less than 0.0001 for schizophrenia, or for schizophrenia plus bipolar disorder. The expression of ULK4 is neuron-specific and developmentally regulated. ULK4 modulates multiple signalling pathways that include ERK, p38, PKC and JNK, which are involved in stress responses and implicated in schizophrenia. Knockdown of ULK4 disrupts the composition of microtubules and compromises neuritogenesis and cell motility. Targeted Ulk4 deletion causes corpus callosum agenesis in mice. Our findings indicate that ULK4 is a rare susceptibility gene for schizophrenia.
Mass spectrometer calibration of Cosmic Dust Analyzer (2000)

The time of flight mass spectrometer of the Cosmic Dust Analyzer (CDA) instrument aboard the Cassini spacecraft, is expected to be placed in orbit about Saturn to sample the ring material and satellite impact ejecta. Upon impact of an incident dust particle against the target plate at velocities of 5-100 km/s, some 10−8 to 10−5 times the particle mass of positive valence, single-charged ions is induced. These are analyzed via a time-of-flight mass spectrometer. Initial experiments employing a pulsed N2 laser (>300 μJ/pulse, 4ns, 337nm) acting on a suite of samples are described. The laser beam is focussed to deliver the light pulses onto a laser power density (1011 W/cm2) to simulate the impact of particles. Laser ionization produced a charge of 4.6 pC per pulse for aluminum alloy. Estimating that each Al+1 ion require energy of 5.98 eV ionization energy/ion implies that 10−5% of the laser energy produced ions and the present system has a 5% efficiency of collecting the laser-irradiation induced ions. Employing a multi-channel plate detector in this mass spectrometer yields for Al-Mg-Cu alloy and kamacite (Fe-Ni mineral) targets well defined peaks at 24 (Mg+1), 27 (Al+1) and 64 (Cu+1), and 56 (Fe+1), 58 (Ni+1) and 60 (Ni+1) dalton, respectively.
MP46-07 BLADDER REMODELING POST-RADIATION INCREASES FIBROSIS AND DECREASES DISTENSIBILITY: IMPLICATIONS FOR PELVIC CANCER SURVIVORS (2020)

were detected in normal umbrella cells, suggesting that they are operative normally at a low level but induced in pathological conditions. CONCLUSIONS: It is evident from our data that the mitochondria of umbrella cells are strongly induced to accumulate lipid droplets by diverse pathological conditions, and that this represents a functionally convergent mechanism for sequestration and degradation of urothelial membranes and certain urinary toxins. Our data, coupled with other recent reports showing similar mitochondrial LDs in umbrella cells deficient for PPAR-g or spinal cord injury-induced oxidative stress, suggest that mitochondrion is a principal detoxification organelle in urothelial umbrella cells and that antioxidants targeting mitochondria may help alleviate urothelial damages caused by mechanical stress, infection, inflammation, injury and urinary toxins.
Growth of semipolar GaN substrates by hydride vapor phase epitaxy on patterned sapphire substrate (2015)

The surface roughening and crack generation during the HVPE growth on the MOVPE-grown semipolar GaN template were successfully suppressed by using SiO <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2</sub> striped masks perpendicular to the a-axis on the semipolar GaN template. The growth toward the-c-direction during the MOVPE growth was also successfully suppressed by using the growth temperature control; this resulted in a large reduction in the formation of stacking faults in semipolar GaN.
Compliant background subtraction algorithms for tactile rendering (2004)

Relaying spatially distributed forces promises to enhance the performance of telemanipulation systems. However, the proper way to render tactile information from the sensor to the display is not clear for current displays, where the user maintains constant contact. We present a simple approach to rendering tactile information to improve performance in a lump localization task in a compliant object. The algorithms presented subtract uninformative background information from the tactile signal. Subtracting a fixed background pressure frame reduced lump localization error by up to 20% while decreasing the time required to find the lump by up to 44%. Subtracting a background frame that depends on applied force further reduced lump localization error by another 17%.
ALGAL‐RELATED TASTES AND ODORS IN PHOENIX WATER SUPPLY: PRELIMINARY REPORT (2000)

Frequent episodes of algal‐related tastes and odors (T &amp; O) in drinking waters in metropolitan Phoenix, Arizona prompted initiation of a three‐year project in July 1999 to investigate the occurrence of T &amp; O metabolites and to develop a comprehensive management strategy to reduce the problems in drinking water supplies in arid environments. Two metabolites, 2‐methylisoborneol (MIB) and geosmin, have been identified as compounds responsible for the earthy‐musty tastes and odors in water supplies. Both were detected in the water supply system, including source rivers, reservoirs, canal delivery system and water treatment plants. Higher concentrations of MIB and geosmin occurred in distribution canals than in the upstream reservoirs indicating that significant production of the T &amp; O compounds occurs within the canal system. A baseline‐monitoring program has been established for the complex water supply system, with special emphasis on the canal system. Efforts are underway to investigate possible correlations between physical/chemical parameters, algal composition and biomass, with the occurrence of MIB and geosmin. In addition, several physical and chemical treatments are planned for the canal system to reduce algal growth and related MIB and geosmin concentrations.
N-alkenyl nitrone dipolar cycloaddition routes to piperidines and indolizidines. Part 3. Approach to the gephyrotoxin ring system (1992)

Intramolecular dipolar cycloaddition studies on the N-alkenyl nitrones 16, 17, 36 and 45 are reported. The regio- and stereo-chemistry of the product bicyclic isoxazolidines (precursors to ring B of gephyrotoxin 1) are sensitive to the nature and geometry of the alkene dipolarophile.
Direct analysis in real time mass spectrometry with collision‐induced dissociation for structural analysis of synthetic cannabinoids (2012)

Illicit synthetic cannabinoid products continue to be readily available despite national and international restrictions. These products contain a wide range of active components, and, in many cases, multiple active ingredients. DART-MS allows rapid analyses of these synthetic cannabinoids based on the exact masses of their [M+H](+) ions and product ion peaks generated using CID.
Labor and Vaginal Delivery With Maternal Aortic Aneurysm (2001)

In Brief BACKGROUND Maternal aortic aneurysm can be an unsettling finding for the practicing obstetrician. However, thoracic surgeons generally do not treat asymptomatic aortic aneurysms that are less than 6 cm in diameter in otherwise healthy adults. CASE A young nullipara was incidentally found to have a 4.5-cm thoracic aortic aneurysm during prenatal care. After extensive counseling and discussions with thoracic surgeons, anesthesiologists, and perinatologists, the patient requested a trial of labor and underwent an uncomplicated assisted vaginal delivery of a healthy female infant. CONCLUSION A vaginal delivery occurred safely in a woman with an asymptomatic aortic aneurysm that was less than 6 cm in diameter and not associated with Marfan's syndrome. An otherwise healthy woman with a 4.5-cm thoracic aortic aneurysm underwent an uncomplicated labor and vaginal delivery.
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome (2021)

Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and maternal genetic background. Nevertheless, the newborn's genetic contribution to the critical illness is still not elucidated. Here, we aimed to identify possible genetic variants as well as relevant biological pathways that might be associated with CZS phenotypes. For this purpose, we performed a whole-exome sequencing in 40 children born to women with confirmed exposure to ZIKV during pregnancy. We investigated the occurrence of rare harmful single-nucleotide variants (SNVs) possibly associated with inborn errors in genes ontologically related to CZS phenotypes. Moreover, an exome-wide association analysis was also performed using a case-control design (29 CZS cases and 11 controls), for both common and rare variants. Five out of the 29 CZS patients harbored known pathogenic variants likely to contribute to mild to severe manifestations observed. Approximately, 30% of affected individuals carried at least one pathogenic or likely pathogenic SNV in genes candidates to play a role in CZS. Our common variant association analysis detected a suggestive protective effect of the rs2076469 in DISP3 gene (p-value: 1.39 x 10-5). The IL12RB2 gene (p-value: 2.18x10-11) also showed an unusual distribution of nonsynonymous rare SNVs in control samples. Finally, genes harboring harmful variants are involved in processes related to CZS phenotypes such as neurological development and immunity. Therefore, both rare and common variations may be likely to contribute as the underlying genetic cause of CZS susceptibility. The variations and pathways identified in this study may also have implications for the development of therapeutic strategies in the future.
On the Two Segmented and High Aspect Ratio Rectangular Dielectric Resonator Antennas for Bandwidth Enhancement and Miniaturization (2009)

The goal of this communication is to maintain wide impedance bandwidth while miniaturizing a microstrip-fed dielectric resonator antenna (DRA). The approach of using high aspect ratio structures is proposed, discussed, and compared with the two segmented structures approach. Finite element method parametric study of high permittivity high aspect ratio structures is used to demonstrate how two appropriate resonant modes can be merged to obtain miniaturized antennas with broadband operation, stable radiation patterns, and low cross polarization levels. To show the effectiveness of the approach, a set of microstrip-fed two segmented and high aspect ratio DRAs is fabricated, characterized, and the results are compared with Ansoft HFSS simulations. A high aspect ratio DRA with cross section as small as 0.08lambda by 0.12lambda has better than 11 percent bandwidth and is especially attractive for compact array applications.
Electrical yield verification of half-pitch 15 nm patterns using directed self-assembly of polystyrene-block-poly(methyl methacrylate) (2015)

A novel half-pitch (HP) 15 nm line pattern multiplication process with simple process steps and low cost-of-ownership using a polystyrene-block-poly(methyl methacrylate) lamellar block copolymer was developed to carry out process verification of directed self-assembly lithography on a 300 mm wafer for practical semiconductor device manufacturing. Electrical yield verification of HP 15 nm metal wire circuits fabricated by the HP 15 nm line pattern multiplication process was carried out on a 300 mm wafer. The electrical yield verification revealed the viability of the HP 15 nm line pattern multiplication process from the perspective of the total practical performance including critical dimension control, defect control, local placement error, line width roughness, line edge roughness, and process windows in the pattern transfer process.
Sub-shot-noise FM noise spectroscopy of trapped rubidium atoms (1998)

We demonstrate that the large FM noise of a semiconductor laser can be combined with a squeezed AM noise spectrum to make a sub-shot-noise, FM-noise-based spectroscopic measurement. In particular, we probe the spectrum of magneto-optically trapped and cooled rubidium atoms using the FM noise on squeezed AM background noise. The natural absorption line as well as a stimulated Raman transition are clearly visible in the FM-to-AM converted noise even though the signal is below the classical shot-noise level.
The RNA Helicase Rm62 Cooperates with SU(VAR)3-9 to Re-Silence Active Transcription in Drosophila melanogaster (2011)

Gene expression is highly dynamic and many genes show a wide range in expression over several orders of magnitude. This regulation is often mediated by sequence specific transcription factors. In addition, the tight packaging of DNA into chromatin can provide an additional layer of control resulting in a dynamic range of gene expression covering several orders of magnitude. During transcriptional activation, chromatin barriers have to be eliminated to allow an efficient progression of the RNA polymerase. This repressive chromatin structure has to be re-established quickly after it has been activated in order to tightly regulate gene activity. We show that the DExD/H box containing RNA helicase Rm62 is targeted to a site of rapid induction of transcription where it is responsible for an increased degree of methylation at H3K9 at the heat shock locus after removal of the heat shock stimulus. The RNA helicase interacts with the well-characterized histone methyltransferase SU(VAR)3-9 via its N-terminus, which provides a potential mechanism for the targeting of H3K9 methylation to highly regulated genes. The recruitment of SU(VAR)3-9 through interaction with a RNA helicase to a site of active transcription might be a general mechanism that allows an efficient silencing of highly regulated genes thereby enabling a cell to fine tune its gene activity over a wide range.
Complications of Minimally Invasive Spinal Procedures and Surgery—Part IV: Percutaneous and Intradiscal Techniques (2004)

As the millennium dawns, it is interesting to note that the concept of operating on the spine through the least damaging route and by the most precise instrumentation originated in 1937. Pool (1) illuminated a simple cannula with a modiﬁed otoscope to perform myeloscopic examination of the dorsal nerve roots in cases of herniated nucleus pulposus, hypertrophied ligamentum ﬂavum, adhesive arachnoiditis, benign neoplasm, and metastatic carcinoma. As early as 1939, Love (2) advanced the basic principles of microdiscectomy-interlaminar removal of disk material with a small incision and without resection of bone.Minimalism in neurosurgery became centered onmicrosurgical technique in 1955 when Malis (3) employed a binocular microscope to operate with bipolar coagulation. Percutaneous discectomy started with the work of Hijikata (4) and Kambin (5) in the early and mid-1970s. Ascher (6) in 1984 was the ﬁrst to utilize a Nd:YAG laser to ablate the nucleus pulposus through an 18 gauge spinal needle.
Morphology and Thermal Stability of the Active Layer in Poly(p-phenylenevinylene)/Methanofullerene Plastic Photovoltaic Devices (2004)

The morphology of composite thin films consisting of a conjugated polymer (poly[2-methoxy-5-(3‘,7‘-dimethyloctyloxy)-1,4-phenylenevinylene], MDMO-PPV) and methanofullerene ([6,6]-phenyl C61 butyric acid methyl ester, PCBM), which are used as the active layer in polymer photovoltaic devices, has been extensively studied using transmission electron microscopy (TEM) and selected-area electron diffraction (SAED). Composite MDMO-PPV:PCBM films have been prepared with PCBM concentrations varying from 20 to 90 wt %. PCBM-rich clusters are clearly observed in TEM bright-field mode when the PCBM concentration is increased to ca. 75 wt % in the composite film. The SAED analysis shows that these clusters consist of many PCBM nanocrystals with random crystallographic orientations. Furthermore, we show that these nanocrystals are also present in the homogeneous matrix at PCBM concentrations below 75 wt %. Annealing of the blend films has been performed at temperatures between 60 and 130 °C for different times. In all cases, but especially when the annealing temperature is above the glass transition temperature of MDMO-PPV (∼80 °C), PCBM molecules show high diffusion mobility, resulting in accelerated phase segregation and in the formation of large PCBM single crystals in the film. The observed phase segregation, even at temperatures as low as 60 °C, indicates that the thermal stability of MDMO-PPV:PCBM films will likely limit the long-term performance of solar cells based on these materials.
Further evidence that the inhibition of glycogen synthase kinase‐3β by IGF‐1 is mediated by PDK1/PKB‐induced phosphorylation of Ser‐9 and not by dephosphorylation of Tyr‐216 (1997)

293 cells were transfected with wild-type GSK3beta (WT-GSK3beta) or a mutant in which the PKB phosphorylation site (Ser-9) was altered to Ala (A9-GSK3beta). Upon stimulation with IGF-1 or insulin, WT-GSK3beta was inhibited 75% or 60%, respectively, whereas the activity of the A9-GSK3beta mutant was unaffected. Incubation of WT-GSK3beta with PP2A1 (a Ser/Thr-specific phosphatase) completely reversed the IGF-1- or insulin-induced inhibition. IGF-1 stimulation did not induce any tyrosine dephosphorylation of WT-GSK3beta or A9-GSK3beta. Coexpression of WT-GSK3beta in 293 cells with either PKB alpha (also known as AKT) or PDK1 (the 'upstream' activator of PKB) mimicked the IGF-1- or insulin-induced phosphorylation of Ser-9 and inactivation of GSK3beta.
Characterization of N-myc Amplification Units in Human Neuroblastoma Cells (1988)

A set of DNA clones comprising 48 independent HindIII fragments (215 kilobases of sequence) was derived from the N-myc amplification unit of the neuroblastoma cell line NGP. These clones were used to investigate N-myc amplification units in NGP cells and 12 primary neuroblastoma tumors. Three parameters were evaluated: (i) the number of rearrangements from germ line configuration that had occurred during the amplification process; (ii) the homogeneity of amplification units within individual tumors; and (iii) the conservation of amplified sequences among different tumors. The results indicated that remarkably few rearrangements had occurred during amplification, that the amplification units within any one tumor were quite homogeneous, and that although each tumor contained a unique pattern of amplified DNA fragments, there was considerable similarity between the amplification units of different tumors. In particular, the amplification units were strikingly similar over a contiguous domain of at least 140 kilobases surrounding the N-myc structural gene.
Low-temperature transport properties of nanolaminatesTi3AlC2andTi4AlN3 (2003)

In this paper we report on the electronic and magnetotransport properties of two Ti-based ternaries, ${\mathrm{Ti}}_{3}{\mathrm{AlC}}_{2}$ and ${\mathrm{Ti}}_{4}{\mathrm{AlN}}_{3}.$ In order to determine the effective carrier concentrations and their mobilities, the Hall effect, electrical conductivity, thermoelectric power, magnetic susceptibility, and magnetoresistance were measured as a function of temperature between 4 and 300 K and at magnetic fields up to 9 T. For ${\mathrm{Ti}}_{3}{\mathrm{AlC}}_{2},$ the Hall voltage is a linear function of magnetic field at all temperatures. At the lowest temperatures, the Hall coefficient is small but positive; above 100 K it is negative and drops more or less linearly with temperature. The magnetoresistance of ${\mathrm{Ti}}_{3}{\mathrm{AlC}}_{2}$ is dominated by a positive quadratic field dependence. The magnetic susceptibility is nearly constant but displays a weak maximum around the temperature at which the Hall effect changes sign (\ensuremath{\approx}100 K). In contrast, the Seebeck coefficient remains positive up to 800 K, with a maximum at 700 K. The results were analyzed within a two-band framework assuming a temperature-independent charge-carrier density and a hole mobility that is slightly smaller than the electron mobility. The model quantitatively accounts for our observations. The resistivity, magnetoresistance, and Hall coefficient of ${\mathrm{Ti}}_{4}{\mathrm{AlN}}_{3},$ on the other hand, were successfully described within the single-band model, with holes as the dominant charge carriers. This was supported by measurements of the Seebeck coefficient, which is positive and peaks at \ensuremath{\approx}300 K. The magnetic susceptibility of ${\mathrm{Ti}}_{4}{\mathrm{AlN}}_{3}$ is also quite temperature independent.
Pair-Splitting Sets in $AG ( m,q )$ (1992)

This paper is concerned with pair-splitting sets in $AG_k ( m,q )$, the design obtained from the points and k-flats in $AG (m,q)$. A pair-splitting set is a set of parallel classes $\{ R_1 ,R_2 , \cdots ,R_s \}$ such that there is no pair of distinct points $a,b$ such that $a,b$ are contained in a common k-flat of each of the s parallel classes. It is easy to prove that a lower bound on s is $\lceil m/( m - k ) \rceil $. The main result of this paper is to prove that this lower bound is always achievable for any choice of $m,q$, and k, where $0\leqq k\leqq m - 1$. The concept of pair-splitting sets arises naturally out of the problem of finding roots in $GF( q^m )$ of a polynomial over $GF ( q^m )$. The connection between the two concepts is briefly discussed.
A MEMS Gyroscope for Reliable Long Duration Measurement While Drilling at 300°C (2022)

The 300°C Microelectromechanical system (MEMS) gyroscope project aims to contribute to DOE’s goal of increased geothermal drilling efficiency by 2025 through the development of a 300°C MEMS gyroscope for Measurement While Drilling (MWD). At the conclusion of the 2-year project, the team will develop a 300°C capable MEMS gyroscope containing GE’s patented Multi-Ring Gyroscope Transducer (MRGT) design, custom Silicon-On-Insulator (SOI) based frontend and feedback control electronics, and with demonstrated functionality and lifetime beyond 1000 hours. The project is divided into two budget periods with Go/No-Go decision at the end of the first budget period. The goal for the first budget period is to establish the feasibility of the MRGT and electronics design for meeting the 300°C performance requirements. The goal for the second budget period is to integrate the MRGT with the SOI-based application specific integrated circuit (ASIC) and demonstrate capability to operate at 300°C for 1000 hours. In Budget Period 1 we met the phase 1 goal. We successfully validated the combined MRG, electronics and packaging capability entitlement to achieving 0.5 degrees azimuth uncertainty while enabling operation at significantly higher temperatures than the state-of-the-art. In Budget Period 2, we successfully completed the integration of the MRGT and ASIC with associated high temperature, high reliability packaging to demonstrate the performance and functionality of the integrated gyroscope across the temperature range from room temperature to at 300°C. Furthermore, the team demonstrated operating life of >1,000 hours at 300°C, thus providing a validation of application-relevant lifetime capability.