gebhart/patrepeval huggingface dataset:
Screening the 3? region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations (2000)

Screening for disease-causing mutations in the unique region of the polycystic kidney disease 1 (PKD1) gene was performed in 41 unrelated individuals with autosomal dominant polycystic kidney disease. Exons 34-41 and 43-46 were assayed using PCR amplification and SSCP analysis followed by direct sequencing of amplicons presenting variant SSCP patterns. We have identified seven disease-causing mutations of which five are novel [c.10634-10656del; c.11587delG; IVS37-10C>A; c.11669-11674del; c.13069-13070ins39] and two have been reported previously [Q4010X; Q4041X]. Defects in this part of the gene thus account for 17% of our group of patients. Five of the seven sequence alterations detected are protein-truncating which is in agreement with mutation screening data for this part of the gene by other groups. The two other mutations are in-frame deletions or insertions which could destroy important functional properties of polycystin 1. These findings suggest that the first step toward cyst formation in PKD1 patients is the loss of one functional copy of polycystin 1, which indirectly supports the "two-hit" model of cystogenesis where a second somatic mutation inactivating the normal allele is necessary to occur for development of the disease condition.
Summary health statistics for U.S. children: National Health Interview Survey, 2012. (2013)

In 2012, most U.S. children under age 18 years had excellent or very good health (83%). However, 7% of children had no health insurance coverage, and 4% of children had no usual place of health care. Six percent of children had unmet dental need because their families could not afford dental care. Twelve percent of children had one ER visit and 6% had two or more visits. Ten percent of children aged 3-17 years had ADHD.
(<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" display="inline"><mml:mi>n</mml:mi><mml:mo>,</mml:mo><mml:mi> </mml:mi><mml:mi>p</mml:mi></mml:math>) Reaction for Gold (1957)

The paper reports an experimental study of the process ${\mathrm{Au}}^{197}(n, p){\mathrm{Pt}}^{197}$ induced by 14-Mev neutrons, detecting protons in the angular range 10\ifmmode^\circ\else\textdegree\fi{} to 45\ifmmode^\circ\else\textdegree\fi{} with emulsions. Resolution is not adequate for the identification of single excited states, but the energy spectrum does display definite structure and five groups are distinguished, chiefly on the basis of gross differences in their angular distributions. The energy widths of these groups are smaller than expected in view of the target thickness. Positions of angular distribution peaks are utilized for the assignment of angular momentum changes. The corresponding excitations in ${\mathrm{Pt}}^{197}$, with "final angular momentum" parameters and total cross sections, are: 0.2 Mev, 2, 8.6 mb; 1.6 Mev, 0 (or 4), 2.2 mb; 2.9 Mev, 5, 2.0 mb; 4.4 Mev, 6, 5.2 mb; 6.0 Mev, 4 (or 0), 2.5 mb. The sum of these cross sections (20.5 mb) is the experimental value for the reaction cross section, since the ground state transition was probably not observed (cross section estimated not over 0.6 mb) and no significant yield of protons was observed corresponding to Pt excitation between the highest listed and the maximum (13 Mev) represented in the spectrum. All cross sections are subject to about 40% uncertainty in neutron flux, but statistical uncertainties are of order 20% or less. Maximum differential cross sections for the groups, and their locations in the angular distributions, are tabulated.
Insect chemosterilants. 11. Substituted 3,5-diamino-1,2,4-dithiazolium salts and related compounds (1972)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTInsect chemosterilants. 11. Substituted 3,5-diamino-1,2,4-dithiazolium salts and related compoundsJ. E. Oliver, S. C. Chang, R. T. Brown, J. B. Stokes, and A. B. BorkovecCite this: J. Med. Chem. 1972, 15, 3, 315–320Publication Date (Print):March 1, 1972Publication History Published online1 May 2002Published inissue 1 March 1972https://pubs.acs.org/doi/10.1021/jm00273a025https://doi.org/10.1021/jm00273a025research-articleACS PublicationsRequest reuse permissionsArticle Views260Altmetric-Citations21LEARN 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
Divergent Approach to the Bisanthraquinone Natural Products: Total Synthesis of (<i>S</i>)-Bisoranjidiol and Derivatives from Binaphtho-<i>para</i>-quinones (2012)

The development of the first asymmetric synthesis of a chiral anthraquinone dimer is outlined, resulting in the first total synthesis of (S)-bisoranjidiol. Rather than a biomimetic dimerization retrosynthetic disconnection, the anthracenyl ring systems are generated after formation of the axially chiral binaphthalene framework. This synthetic strategy has enabled the synthesis of several analogues. Key features of the synthesis include the enantioselective coupling of a hindered 2-naphthol containing substitution peri to the site of C-C bond formation, the regioselective oxidation of 8,8'-hydroxylated binaphthols to binaphtho-para-quinones, and a tandem regioselective Diels-Alder/aromatization reaction.
Order breaking in Dean flow (1991)

The idea of combining large vortical structures in the flow with the dynamical behavior of open systems to enhance heat transfer and mixing has led to the design and construction of an experimental apparatus to study order breaking in such systems. The apparatus consists of a succession of curved channels in which the curvature plane rotates 90° between each two adjacent curved elements. In this paper, the basic idea and the design concepts are described in detail. Some preliminary results are also presented.
A Randomized Trial of Fetal Endoscopic Tracheal Occlusion for Severe Fetal Congenital Diaphragmatic Hernia (2003)

Tracheal occlusion did not improve survival or morbidity rates in this cohort of fetuses with congenital diaphragmatic hernia.
Concave reagents, 3. Synthesis, basicity, and conformation of new concave pyridines (1990)

Abstract Eight new bimacrocyclic concave pyridines 9 and six monomacrocyclic and open‐chain analogues 10 – 12 were synthesized in overall yields up to 40% (up to 75% for nonmacrocyclic pyridines) starting from 2,6‐pyridinedicarbaldehydes 1 , diamines 2 and diacyl dichlorides 7 . Their basicities cover a range of more than three orders of magnitude. They are determined not only by the substitution pattern of the pyridine ring, but also by the overall structure of the whole molecule and by its ability to stabilize the positive charge of a proton intramolecularly. The conformations of the bimacrocyclic bislactams 9 in solution and in the solid state were investigated spectroscopically, the structure of 9b could be determined by X‐ray analysis.
Peak temperatures and microstructures in aluminium and magnesium alloy friction stir spot welds (2005)

The peak temperatures during friction stir spot welding of similar and dissimilar aluminium and magnesium alloys are investigated. The peak temperatures attained during friction stir spot welding of Al 6111, Al 2024, and AZ91 are within 6% of their solidus temperatures. In dissimilar AZ91/Al 6111 spot welds the peak temperature corresponds with the α-Mg solid solution and Mg 17 Al 12 eutectic temperature of 437°C. An a-Mg plus Mg 17 Al 12 eutectic microstructure is produced in dissimilar friction stir spot welds when material displaced during pin penetration into the lower sheet material contacts the upper sheet material at the eutectic temperature.
Roles of individual human cytochrome P-450 enzymes in the bioactivation of benzo(a)pyrene, 7,8-dihydroxy-7,8-dihydrobenzo(a)pyrene, and other dihydrodiol derivatives of polycyclic aromatic hydrocarbons. (1989)

Human liver microsomes oxidized 7,8-dihydroxy-7,8-dihydrobenzo(a)pyrene [B(a)P-7,8-diol] to products that yield DNA adduct formation and umu gene expression in the tester system Salmonella typhimurium TA1535/pSK1002. The umu response is correlated to levels of microsomal cytochrome P-450NF (P-450NF) and nifedipine oxidation in different human liver samples used for activation, and both the (+)- and (-)-enantiomers of B(a)P-7,8-diol gave similar results in these and other assays. The microsomal umu response was inhibited by antibodies raised against P-450NF. 7,8-Benzoflavone stimulated the B(a)P-7,8-diol-dependent umu response observed with purified P-450NF and human liver and lung microsomes. Thus, P-450NF appears to be the major enzyme involved in the activation of B(a)P-7,8-diol in human liver and possibly lung. Similar results were obtained for the activation of trans-9,10-dihydroxy-9,10-dihydrobenzo(b)fluoranthene and trans-3,4-dihydroxy-3,4-dihydro-7,12-dimethylbenz(a)anthracene, compounds that are known to form highly tumorigenic diol-epoxides. The major product of the oxidation of (+)-B(a)P-7,8-diol was the cis-syn isomer of benzo(a)pyrene-7,8,9,10-tetraol[7 beta, 8 alpha, 9 beta, 10 beta-tetrahydroxy-7,8,9,10-tetrahydrobenzo(a)pyrene]. Studies on the nature of the human liver enzymes involved in the formation of B(a)P-7,8-diol [from benzo(a)pyrene] indicate that neither P-450NF, P-450PA, P-450j, P-450DB, nor P-450MP is involved. The correlation of 7,8-diol formation with phenacetin O-deethylation in a set of liver samples and the partial inhibition of the reaction by 7,8-benzoflavone and anti-rat P-450 beta NF-B suggest that the enzyme involved may be P1-450, the human ortholog of rat P-450 beta NF-B, which catalyzes both the formation of B(a)P-7,8-diol and its subsequent oxidation in tissues of polycyclic hydrocarbon-treated rats. The differential effects of inhibitors indicate that benzo(a)pyrene 3-hydroxylation, 4,5-epoxidation, and 9,10-epoxidation are catalyzed by an enzyme(s) distinct from that which forms the 7,8-epoxide. The roles of the human P-450 enzymes differ from the rodent orthologs in the paradigm for bioactivation of polycyclic hydrocarbons; further, flavones appear to have opposing effects on diol formation and further epoxidation in both human liver and lung.
A Method for Extracting Pigments from Squid <em>Doryteuthis pealeii</em> (2016)

Cephalopods can undergo rapid and adaptive changes in dermal coloration for sensing, communication, defense, and reproduction purposes. These capabilities are supported in part by the areal expansion and retraction of pigmented organs known as chromatophores. While it is known that the chromatophores contain a tethered network of pigmented granules, their structure-function properties have not been fully detailed. We describe a method for isolating the nanostructured granules in squid Doryteuthis pealeii chromatophores and demonstrate how their associated pigments can be extracted in acidic solvents. To accomplish this, the chromatophore containing dermal layer is first manually isolated using a superficial dissection, and the pigment granules are removed using sonication, centrifugation, and washing cycles. Pigments confined within the purified granules are then extracted via acidic methanol solutions, leaving nanostructures with smaller diameters that are void of visible color. This extraction procedure produces a 58% yield of soluble pigments isolated from granules. Using this method, the composition of the chromatophore pigments can be determined and used to provide insight into the mechanism of adaptive coloration in cephalopods.
Changes of the Secondary Structure of the 5′ End of the Sindbis Virus Genome Inhibit Virus Growth in Mosquito Cells and Lead to Accumulation of Adaptive Mutations (2004)

Both the 5' end of the Sindbis virus (SIN) genome and its complement in the 3' end of the minus-strand RNA synthesized during virus replication serve as parts of the promoters recognized by the enzymes that comprise the replication complex (RdRp). In addition to the 5' untranslated region (UTR), which was shown to be critical for the initiation of replication, another 5' sequence element, the 51-nucleotide (nt) conserved sequence element (CSE), was postulated to be important for virus replication. It is located in the nsP1-encoding sequence and is highly conserved among all members of the Alphavirus genus. Studies with viruses containing clustered mutations in this sequence demonstrated that this RNA element is dispensable for SIN replication in cells of vertebrate origin, but its integrity can enhance the replication of SIN-specific RNAs. However, we showed that the same mutations had a deleterious effect on virus replication in mosquito cells. SIN with a mutated 51-nt CSE rapidly accumulated adaptive mutations in the nonstructural proteins nsP2 and nsP3 and the 5' UTR. These mutations functioned synergistically in a cell-specific manner and had a stimulatory effect only on the replication of viruses with a mutated 51-nt CSE. Taken together, the results suggest the complex nature of interactions between nsP2, nsP3, the 5' UTR, and host-specific protein factors binding to the 51-nt CSE and involved in RdRp formation. The data also demonstrate an outstanding potential of alphaviruses for adaptation. Within one passage, SIN can adapt to replication in cells of a vertebrate or invertebrate origin.
A synthetic 70-amino acid residue analog of ribonuclease S-protein with enzymic activity. (1975)

A 70-residue analog of RNase S-protein was synthesized by the solid phase method. It was obtained by omitting the NH2 terminus from positions 21 to 25 and the segments 36 to 40, 58 to 73, 87 to 96, and 113 to 114. Four residues were inserted to link the ends formed by the deletions. Half-cystine residues that had not been part of the deletions were replaced by alanine or leucine residues. The synthetic polypeptide was separated by gel filtration into a dimer and a monomer. Both fractions were purified further by ion exchange chromatography. The dimeric 70-residue S-protein analog had a specific activity of approximately 4% using RNA as substrate. It also cleaved other substrates of RNase A such as 5'-(3'-cytidylyl)-guanosine, 5'-(3'-uridylyl)-guanosine, and polycytidylic acid. The monomer of the 70-residue analog was less active but showed the same substrate specificity as the dimer. It was found that both fractions of the synthetic S-protein analog catalyzed only the transphosphorylation step of the RNase A mechanism and had very little if any activity in the hydrolysis step. Addition of natural S-peptide or S-protein did not increase the activity in the transphosphorylation reaction but greatly enhanced the reaction rate of the hydrolysis step. IN THE PRESENCE OF S-peptide, both monomeric and dimeric 70-residue S-protein, both monomeric and dimeric 70- residue S-protein analog had approximately 8% activity using cyclic cytidine 2':3'-monophosphate as substrate. The mixtures of monomer and dimer of the synthetic S-protein analog with natural S-protein generated even higher activities (151 and 74%, respectively) against this substrate despite the fact that the NH2-terminal portion of the natural enzyme (including His 12) was missing in both components of the two complexes. The 70-residue S-protein analog was completely inactive against DNA and (with one exception) against substrates for RNase T1. The close agreement of the substrate specificity of the synthetic analog with that of native RNase A in the transphosphorylation step suggested a remarkable conservation of the configuration of the active site despite drastic changes of the primary structure of the parent molecule. Possible implications of these results for the mechanism of action of RNase A are discussed.
Optical interconnects for intrachip global communications (2005)

The challenges faced by on-chip metal wiring are quantified and opportunities for optical interconnects identified. Scalable solutions are proposed and demonstrated to meet future on-chip interconnect requirements and prevent the saturation of Moore’s Law.
Quantification of Cell-Associated and Free Antigens in<i>Bordetella pertussis</i>Suspensions by Antigen Binding ELISA (1997)

In order to achieve batch-to-batch consistency of whole-cell pertussis vaccines, properties relevant for protection and safety should be characterised. Therefore, ELISAs to quantify pertussis toxin (PT), filamentous haemagglutinin (FHA), 92 kD outer membrane protein (92 kD-OMP) and pertactin (PRN) in Bordetella pertussis (B. pertussis) suspensions were developed. In this paper the influence of the bacterial growth stage on antigen production and antigen release into the supernatant was studied for pertussis strains 134, 509 and CS. The levels of cell-associated and free antigens during growth were strongly strain and antigen dependent. Because of this, the proportion of cell-associated antigens changed during cultivation for all three strains. Substantial amounts of PT and PRN were released into the supernatant, while little free FHA and 92 kD-OMP were found. The amount of cell-associated FHA declined rapidly during growth, whereas cell-associated 92 kD-OMP contents increased. These findings demonstrate that, although antigen exposure and release differ from strain to strain, the main factor that determines the antigen production and release is the growth phase.
Design and implementation of a high-fidelity AC metering network (2009)

We present the architecture, design, and preliminary evaluation of ACme, a wireless sensor and actuator network for monitoring AC energy usage and controlling AC devices in a large and diverse building environment. The ACme system consists of three tiers: the ACme node which provides a metering and control interface to a single outlet, a network fabric which allows this interface to be exported to arbitrary IP endpoints, and application software that uses this networked interface to provide various power-centric applications. The ACme node integrates an Epic core module with a dedicated energy metering IC to provide real, reactive, and apparent power measurements, with optional control of an attached load. The network comprises a complete IPv6/6LoWPAN stack on every node and an edge router that connects to other IP networks. The application tier receives and stores readings in a database and uses a web server for visualization. Nodes automatically join the IPv6 subnet after being plugged in, and begin interactions with the application layer. We evaluate our system in a preliminary green building deployment with 49 nodes spread over several floors of a Computer Science Building and present energy consumption data from this preliminary deployment.
Basal plasma insulin levels exert a qualitative but not quantitative effect on glucose-mediated glucose uptake (1995)

1) hyperglycemia promotes glucose uptake by stimulating both nonoxidative and oxidative glucose disposal; 2) the ability of hyperglycemia to enhance total body glucose uptake is similar with and without normoinsulinemia; 3) although acute insulinopenia does not impair the ability of hyperglycemia to stimulate glucose uptake, it plays a critical role in determining the intracellular metabolic fate of glucose taken up in response to hyperglycemia.
Dynamic power management for UML modeled applications on multiprocessor SoC (2007)

The paper presents a novel scheme of dynamic power management for UML modeled applications that are executed on a multiprocessor System-on-Chip (SoC) in a distributed manner. The UML models for both application and architecture are designed according to a well-defined UML profile for embedded system design, called TUT-Profile. Application processes are considered as elementary units of distributed execution, and their mapping on a multiprocessor SoC can be dynamically changed at run-time. Our approach on the dynamic power management balances utilized processor resources against current workload at runtime by (1) observing the processor and workload statistics, (2) re-evaluating the amount of required resources (i.e. the number of active processors), and (3) re-mapping the application processes to the minimum set of active processors. The inactive processors are set to a power-save state by using clock-gating. The approach integrates the well-known power management techniques tightly with the UML based design of embedded systems in a novel way. We evaluated the dynamic power management with a WLAN terminal implemented on a multiprocessor SoC on Altera Stratix II FPGA containing up to five Nios II processors and dedicated hardware accelerators. Measurements proved up to 21% savings in the power consumption of the whole FPGA board.
FABRICATION AND OPERATION OF A SELF-CONTAINED BUBBLE DOMAIN MEMORY CHIP (1972)

This paper describes the fabrication and operation of a 52‐bit bubble domain memory chip designed to test the concept of on‐chip magnetic decoding. Access to one of the chip's four shift registers for the read, write, and clear functions is by means of bubble domain decoders utilizing the interaction between a conductor line and a bubble. All other functions are performed by a permalloy overlay driven by an external rotating field. The metallurgy consists of 200 Å evaporated permalloy for magnetoresistive sensors. 4000 Å electroplated permalloy for propagation etc., and 6000 Å electroplated copper for control lines.
Realizing service composition in the IP Multimedia Subsystem (2008)

Developed by the 3 <sup xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">rd</sup> Generation Partnership Project, the IP Multimedia Subsystem is a set of standards that enable the delivery of rich multimedia services in Next Generation Networks. One way of taking advantage of the flexibility that IMS provides, consists on effectively manage the interoperability and cooperation between the deployed services, in order to provide a high level of service customization to subscribers. To realize these goals, service composition, conceptualized as the ability of building new services from previously existing ones, has to be enabled in the IMS. Taking as starting point the potential architectural requirements compiled in 3GPP TR 23.810 for a brokering function, this paper presents some ideas to realize service orchestration based on the techniques and procedures already defined for the IMS.