bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetics of Sudden Infant Death Syndrome
Authors: Courts Cornelius 
Published: April 2013

Abstract

The sudden infant death syndrome (SIDS) is currently defined as the sudden unexpected death of an infant less than 1 year of age with onset of the fatal episode apparently occurring during sleep, which remains unexplained after a thorough investigation. SIDS, whose aetiology remains rather vague, is still the major cause of death among infants between 1 month and 1 year of age in industrialised countries with varying incidences in different subpopulations.
After touching on definitory approaches and several current hypotheses concerning SIDS aetiology, the triple risk hypothesis as an explanatory model for SIDS is introduced, followed by the discussion of associated genetic risk factors potentially contributing to or predisposing for the generation of a vulnerable infant that, when encountering an environmental trigger, may succumb to SIDS. An overview of current animal models for SIDS is presented and future prospects are briefly discussed.

Key Concepts:

A proper definition and strict adherence to diagnostic criteria is critical to valid SIDS research.

SIDS is multifactorial disease probably with a genetic predisposition.

The triple risk areas model is an explanatory approach that may be fitted to most hypotheses concerning SIDS aetiology.

Numerous and very different genetic variants are potentially predisposing for SIDS.

Current animal models for SIDS may be useful but can each only represent a subgroup of SIDS.

Functional studies of SIDS pathomechanisms are required.
Genetics of Primary Biliary Cirrhosis
Authors: Mells George F , Hirschfield Gideon M 
Published: April 2013

Abstract

Primary biliary cirrhosis (PBC) is an autoimmune liver disease affecting 0.1% of women over the age of 40 years. PBC is characterised by autoreactive T‐cells and B‐cells specific for mitochondrial self‐antigens, typically the E2‐domain of pyruvate dehydrogenase complex (PDC‐E2), which mediate progressive destruction of the small, intrahepatic bile ducts, eventually leading to cirrhosis. It is believed that environmental factors trigger loss of immune tolerance to PDC‐E2 in those individuals with a genetic predisposition towards PBC. Knowledge of the genetic basis of PBC has improved following four genome‐wide association studies and two immunochip association studies of PBC, undertaken in large case‐control cohorts from North America, Europe and Japan. These studies have clarified the well‐established human leucocyte antigen (HLA) association and identified 27 non‐HLA risk loci, which harbour highly plausible candidate genes, mainly involved in regulation of the immune system.

Key Concepts:

Primary biliary cirrhosis (PBC) is a chronic, cholestatic liver disease characterised by progressive, autoimmune destruction of the small, interlobular bile ducts, leading in many cases to end‐stage liver disease with attendant need for liver transplantation.

PBC is a complex disorder, meaning that it results from an interaction of genetic and environmental factors.

Genome‐wide association studies (GWAS) and iCHIP studies of PBC have substantially improved knowledge of the genetic architecture of PBC. To date, four GWAS and two iCHIP studies of PBC have been undertaken in populations of European or Japanese ancestry.

The HLA complex makes an important contribution to the genetic basis of PBC. Risk haplotypes associated with PBC include those carrying DRB1*08 and DRB1*04 alleles. Protective haplotypes include those carrying DRB1*11 and DRB1*15 alleles.

A total of 27 non‐HLA risk loci for PBC have been identified in GWAS or iCHIP studies. Many loci harbour highly plausible candidate genes, mainly involved in innate or acquired immune processes.

Many risk loci for PBC are also the risk loci for other autoimmune conditions, such as multiple sclerosis, coeliac disease or inflammatory bowel disease.

The genetic architecture of PBC in the Japanese population appears to be distinct from the genetic architecture of PBC in populations of European ancestry. This suggests that susceptibility to PBC is characterised by genetic heterogeneity.

Known independent risk variants for PBC account for less than 20% of PBC heritability. This is an example of ‘missing heritability’.

The iCHIP studies of PBC suggest that PBC risk loci may be polymorphic.

The iCHIP studies of PBC suggest that rare and low‐frequency variants make a substantial contribution to the genetic variance of the diseases; identification of rare variants will require large‐scale sequencing efforts.
Fullerene Nanoarchitectonics: From Zero to Higher Dimensions
Authors: Shrestha Lok Kumar , Ji Qingmin , Mori Taizo , Miyazawa Kun'ichi , Yamauchi Yusuke , Hill Jonathan P. , Ariga Katsuhiko 
Published: April 2013

AbstractThe strategic design of nanostructured materials, the properties of which could be controlled across different length scales and which, at the same time, could be used as building blocks for the construction of devices and functional systems into new technological platforms that are based on sustainable processes, is an important issue in bottom‐up nanotechnology.Such strategic design has enabled the fabrication of materials by using convergent bottom‐up and top‐down strategies. Recent developments in the assembly of functional fullerene (C60) molecules, either in bulk or at interfaces, have allowed the production of shape‐controlled nano‐to‐microsized objects that possess excellent optoelectronic properties, thus enabling the fabrication of optoelectronic devices. Because fullerene molecules can be regarded as an ideal zero‐dimensional (0D) building units with attractive functions, the construction of higher‐dimensional objects, that is, 1D, 2D, and 3D nanomaterials may realize important aspects of nanoarchitectonics. This Focus Review summarizes the recent developments in the production of nanostructured fullerenes and techniques for the elaboration of fullerene nanomaterials into hierarchic structures.
A Discrete‐Time VS Controller based on RBF Neural Networks for PMSM Drives
Authors: Ciabattoni Lucio , Corradini Maria Letizia , Grisostomi Massimo , Ippoliti Gianluca , Longhi Sauro , Orlando Giuseppe 
Published: April 2013

AbstractA method merging the features of variable structure control and neural network design is presented for speed control of a permanent magnet synchronous motor. The proposed control approach is based on a discrete‐time variable structure control and a robust digital differentiator for speed estimation. Radial basis function neural networks are used to learn about uncertainties affecting the system. A stability analysis is provided and the ultimate boundedness of the speed tracking error is proved. Control performance has been evaluated by simulations using the model of a commercial permanent magnet synchronous motor drive.
Enabling action: Digging deeper into strategies for learning
Authors: Haller Thom 
Published: April 2013

AbstractEditor's SummaryA central goal for information architects is to understand how people use information, make choices as they navigate a website and accomplish their objectives. If the goal is learning, we often assume it relates to an end point, a question to answer, a problem to which one applies new understanding. Benjamin Bloom's 1956 taxonomy of learning breaks down the cognitive process, starting from understanding needs and progressing to action and final evaluation. Carol Kuhlthau's 1991 outline of the information search process similarly starts with awareness of a need, progresses through exploring options, refining requirements and collecting solutions, and ends with decision making and action. Recognizing the stages of information browsing, learning and action can help information architects build sites that better meet searchers' needs.
Structure–Reactivity Relationships in the Hydrogenation of Carbon Dioxide with Ruthenium Complexes Bearing Pyridinylazolato Ligands
Authors: Muller Keven , Sun Yu , Heimermann Andreas , Menges Fabian , Niedner‐Schatteburg Gereon , van Wüllen Christoph , Thiel Werner R. 
Published: April 2013

AbstractPyridinylazolato (N–N′) ruthenium(II) complexes of the type [(N–N′)RuCl(PMe3)3] have been obtained in high yields by treating the corresponding functionalised azolylpyridines with [RuCl2(PMe3)4] in the presence of a base.15N NMR spectroscopy was used to elucidate the electronic influence of the substituents attached to the azolyl ring. The findings are in agreement with slight differences in the bond lengths of the ruthenium complexes. Furthermore, the electronic nature of the azolate moiety modulates the catalytic activity of the ruthenium complexes in the hydrogenation of carbon dioxide under supercritical conditions and in the transfer hydrogenation of acetophenone. DFT calculations were performed to shed light on the mechanism of the hydrogenation of carbon dioxide and to clarify the impact of the electronic nature of the pyridinylazolate ligands.
Slow Magnetic Relaxation in Condensed versus Dispersed Dysprosium(III) Mononuclear Complexes
Authors: Cosquer Goulven , Pointillart Fabrice , Golhen Stéphane , Cador Olivier , Ouahab Lahcène 
Published: April 2013

AbstractReaction of the ligands 4,5‐bis(propylthio)tetrathiafulvalene‐2‐(2‐pyridyl)benzimidazole (L1) and 4,5‐bis(propylthio)tetrathiafulvalene‐2‐(2‐pyridyl)‐3‐(2‐pyridinylmethyl)benzimidazole (L2) with Dy(hfac)3⋅2 H2O (hfac=1,1,1,5,5,5‐hexafluoroacetylacetonate) gave mononuclear complexes [Dy(hfac)3(L1)] (1) and [Dy(hfac)3(L2)] (2). In both compounds the DyIII ion is surrounded by six oxygen and two nitrogen atoms. Complex 1 displays single‐ion magnet (SIM) behaviour only in solution (Δ=12(1) K and τ0=1.9(4)×10−6 s), while complex 2 is a SIM in both solution (Δ=15(2) K and τ0=1.5(3)×10−6 s) and solid state (Δ=17(2) K and τ0=9.5(2)×10−6 s). The SIM behaviour is obtained if the hydrogen bond is broken by dissolution (1 in solution) or by alkylation (2). Multiple relaxation processes were identified for 2 with two competing processes: a fast one in zero field and a slow one for fields higher than 500 Oe. The two processes coexist for intermediate applied magnetic field. Magnetic‐dilution and frozen‐solution measurements led to the conclusion that the origin of these multiple relaxation processes is not due to the property of a single molecule.
Photoelectrochemical Sensor Based on Quantum Dots and Sarcosine Oxidase
Authors: Riedel Marc , Göbel Gero , Abdelmonem Abuelmagd M. , Parak Wolfgang J. , Lisdat Fred 
Published: April 2013

AbstractIn this study, a photobioelectrochemical sensor for the detection of sarcosine is reported. For this purpose, CdSe/ZnS quantum dot (QD) modified electrodes are prepared and the oxygen‐dependent photocurrent is evaluated under illumination. By using sarcosine oxidase (SOD), the photocurrent can be suppressed because of biocatalytic oxygen reduction. For the construction of a sensor, SOD is immobilised on the QDs by means of the polyelectrolyte poly(allylamine hydrochloride) (PAH). Multi‐layer systems have been built up to six bilayers through electrostatic interactions. The assembly can be verified by surface plasmon resonance measurements. By varying the number of layers, the influence of the amount of enzyme on the sensitivity of the sensor can be shown. The [SOD/PAH]6‐layer system results in a signal change of 0.041 % μM−1 in the linear range from 100 μM to 1 mM of sarcosine.
Hepatic Nervous System and Neurobiology of the Liver
Authors: Jensen Kendal Jay , Alpini Gianfranco , Glaser Shannon 
Published: April 2013

AbstractThe liver has a nervous system containing both afferent and efferent neurons that are involved in a number of processes. The afferent arm includes the sensation of lipids, glucose, and metabolites (after eating and drinking) and triggers the nervous system to make appropriate physiological changes. The efferent arm is essential for metabolic regulation, modulation of fibrosis and biliary function and the control of a number of other processes. Experimental models have helped us to establish how: (i) the liver is innervated by the autonomic nervous system; and (ii) the cell types that are involved in these processes. Thus, the liver acts as both a sensor and effector that is influenced by neurological signals and ablation. Understanding these processes hold significant implications in disease processes such as diabetes and obesity, which are influenced by appetite and hormonal signals. © 2013 American Physiological Society.Compr Physiol3:655‐6665, 2013.
One‐Pot Synthesis of Palladium Hollow Nanospheres and Their Enhanced Electrocatalytic Properties
Authors: Yang Liu , Li Zhicheng , Lu Xiaofeng , Tong Yan , Nie Guangdi , Wang Ce 
Published: April 2013

AbstractA facile soft‐template method to synthesize Pd hollow nanospheres (PHNs) through a one‐pot route in the presence of rhodamine B (RB) at room temperature is demonstrated. RB‐PdCl42− complex formed by an electrostatic interaction is used as sacrificial template, which can self‐degrade to synthesize metal hollow nanostructures. The PdCl42− ions are continually reduced in situ and the hollow nanostructures form gradually. The as‐prepared PHNs are characterized by transmission electron microscopy, high‐resolution transmission electron microscopy, energy‐dispersive X‐ray spectroscopy, X‐ray diffraction, X‐ray photoelectron spectroscopy, and electrochemical measurements. The as‐prepared PHNs exhibit enhanced catalytic activity and durability as electrocatalysts for direct methanol fuel cells and direct formic acid fuel cells.
Micro‐ and Mesoporous Polycyanurate Networks Based on Triangular Units
Authors: Yu Hao , Shen Changjiang , Wang Zhonggang 
Published: April 2013

AbstractHyper‐cross‐linked polycyanurate networks (CE‐P1 and CE‐P2) were synthesized by means of thermal self‐cyclotrimerization from two triangular cyanate resin monomers 1,3,5‐tri(4‐cyanatophenyl)benzene and 1,3,5‐tricyanatobenzene, respectively. Interestingly, it was found that CE‐P1 exhibited microporous characteristics and a moderately large BET surface area. The two narrow peaks in the nonlocal density functional theory (NLDFT) curve appeared at 0.57 and 1.01 nm. In contrast, the CE‐P2 sample had a small surface area and broad pore‐size distribution with major pores of around 3.39 nm, which indicated a mesoporous material. The reason for this was interpreted in terms of the geometric configuration, steric hindrance, and reactivity of the cyanate monomers. The adsorptions of CO2, H2, benzene, n‐hexane, and water vapors were investigated by correlating the data with the porosity parameters, chemical structure, and composition of the two networks. The results showed that the vastly distinct pore properties significantly influenced the adsorptions of gases and vapors. In particular, organic vapors such as benzene and n‐hexane tended to be adsorbed on the pore surface owing to their affinity and thereby the adsorption amounts were tightly attached to the surface area of the samples. On the contrary, the hydrophobic nature of polymers made the water molecules preferentially condense within the pores so that the pore size rather than the surface area became the dominant factor influencing the adsorption of water vapor.
Experimental and Computational Investigations of Tautomerism and Fluxionality in PCP‐ and PNP‐Bridged Heavy Chalcogenides
Authors: Elder Philip J. W. , Chivers Tristram , Thirumoorthi Ramalingam 
Published: April 2013

AbstractThe reaction of H2C(PCl2)2 with four equivalents of iPrMgCl produces H2C(PiPr2)2, which was treated with tellurium in boiling toluene, or selenium in toluene at room temperature, to give the monochalcogenides EPiPr2CH2PiPr2 (E = Te, 4a; E = Se, 4b) in high yields. X‐ray structural determinations show that 4a and 4b exist as the CH2 tautomers in the solid state with E–P–C–P dihedral angles of 56.1(2)° and 56.7(1)°, respectively. DFT calculations were carried out for the isolectronic series EPR2CH2PR2 and EPR2NHPR2 (E = Se, Te; R = Me, iPr, tBu, Ph) and for their non‐chalcogenated precursors in order to elucidate the factors that determine the preference for PH tautomers in some PNP‐bridged systems. Compounds 4a and 4b were also characterized by multinuclear (1H, 13C, 31P, 77Se, 125Te) NMR spectroscopy. In solution, 4a exhibits fluxional behavior, which has been investigated by variable‐temperature and variable‐concentration multinuclear NMR spectroscopy. The observed behavior is consistent with an intermolecular tellurium transfer with an activation energy of 21.9 ± 3.2 kJ mol–1; consideration of selenium exchange in 4b indicates a much higher energetic barrier. DFT calculations provide insights into the pathway for the chalcogen exchange process in 4a (ΔE = 20.4 kJ mol–1). The outcome of reactions of 4a with selenium and nBuLi reflects the lability of the P‐Te functionality.
Diethylzinc‐Mediated Addition of 2,2‐Dibromo‐2‐fluoroacetamides to Carbonyl Compounds: Synthesis of α‐Bromo‐α‐fluoro‐β‐hydroxy Amides and/or (Z)‐Fluorovinyl Amides
Authors: Lemonnier Gérald , Poisson Thomas , Couve‐Bonnaire Samuel , Jubault Philippe , Pannecoucke Xavier 
Published: April 2013

AbstractWe describe straightforward routes either to α‐bromo‐α‐fluoro‐β‐hydroxy amides or to (Z)‐α‐fluoroacrylamides starting from aldehydes, ketones or imine and 2,2‐dibromo‐2‐fluoroacetamides. Depending on the nature of the amide, these diethylzinc‐mediated additions to aldehydes, ketones or imine afford selective access either to bromofluorohydrins or to (Z)‐α‐fluoroacrylamides. The corresponding products were obtained in moderate to very good yields and the configurations of both products were confirmed by X‐ray analyses.
Optical‐mechanical signatures of cancer cells based on fluctuation profiles measured by interferometry
Authors: Bishitz Yael , Gabai Haniel , Girshovitz Pinhas , Shaked Natan T. 
Published: April 2013

AbstractWe propose to establish a cancer biomarker based on the unique optical‐mechanical signatures of cancer cells measured in a noncontact, label‐free manner by optical interferometry. Using wide‐field interferometric phase microscopy (IPM), implemented by a portable, off‐axis, common‐path and low‐coherence interferometric module, we quantitatively measured the time‐dependent, nanometer‐scale optical thickness fluctuation maps of live cellsin vitro. We found that cancer cells fluctuate significantly more than healthy cells, and that metastatic cancer cells fluctuate significantly more than primary cancer cells. Atomic force microscopy (AFM) measurements validated the results. Our study shows the potential of IPM as a simple clinical tool for aiding in diagnosis and monitoring of cancer. (© 2014 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Charge Density Distribution and Bond Characterization of 2,2′‐Dipyridylamine (Hdpa): A Combined Study of Experiment and Theory
Authors: Wu Lai‐Chin , Lee Gene‐Hsiang , Chen Chien‐Kai , Wang Chih‐Chieh 
Published: April 2013

AbstractElectron density distribution of 2,2′‐dipyridylamine (Hdpa) is studied by single‐crystal X‐ray diffraction method at 120 K. Structural determination reveals that the conformation ofHdpamolecule is thesyn‐anticonformation caused by the intramolecular N···H‐C hydrogen bond between two pyridine rings. TwoHdpamolecules flock togetherviatwo intermolecular N···H‐N hydrogen bonds to form a dimer. Bond characterization is made in terms of deformation density (Δρ), topological analysis of total electron density based on multipole model and molecular orbital (DFT) calculation. The agreement between experiment and theory is good. The topological properties of bond critical points at C‐C, C‐N, N‐H and C‐H bonds are reasonable and reveal a covalent bond character with the high ρ(rc), negative ∇2ρ(rc) and negative total energy density H((rc) values. A low ρ(rc) and positive ∇2ρ(rc) of bond critical points at N···H bonds reveal a closed‐shell interaction for C‐H···N and N‐H···N hydrogen bonds. The π‐delocalization feature around the pyridine ring is also performed by bond ellipticity (ϵ) and fermi‐hole distribution.
Efficient, Convenient and Mild Three Component Template Preparation and Characterization of Some New Schiff Base Complexes
Authors: Naeimi Hossein , Karshenas Azam 
Published: April 2013

AbstractA few kinds of novel Schiff base complexes have been prepared by three component reaction of the substituted hydroxyacetophenone with several aliphatic diamines and transition metals such as; Ni(II), Zn(II) and UO2(II) under mild reaction conditions. The products have been afforded with excellent yields and appropriate reaction times. The structure of these ligands has been characterized by their IR, 1H NMR, 13C NMR and MS spectral and physical data.
PHLP2 is essential and plays a role in ciliogenesis and microtubule assembly in Tetrahymena thermophila
Authors: Bregier Cezary , KrzemieŃ‐Ojak Lucja , WŁOga Dorota , Jerka‐Dziadosz Maria , Joachimiak Ewa , Batko Katarzyna , Filipiuk Iwona , ŚMietanka Urszula , Gaertig Jacek , Fabczak StanisŁAw , Fabczak Hanna 
Published: April 2013

AbstractRecent studies have implicated the phosducin‐like protein‐2 (PHLP2) in regulation of CCT, a chaperonin whose activity is essential for folding of tubulin and actin. However, the exact molecular function of PHLP2 is unclear. Here we investigate the significance of PHLP2 in a ciliated unicellular model, Tetrahymena thermophila, by deleting its single homolog, Phlp2p. Cells lacking Phlp2p became larger and died within 96 h. Overexpressed Phlp2p‐HA localized to cilia, basal bodies, and cytosol without an obvious change in the phenotype. Despite similar localization, overexpressed GFP‐Phlp2p caused a dominant‐negative effect. Cells overproducing GFP‐Phlp2p had decreased rates of proliferation, motility and phagocytosis, as compared to wild type cells or cells overproducing a non‐tagged Phlp2p. Growing GFP‐Phlp2p‐overexpressing cells had fewer cilia and, when deciliated, failed to regenerate cilia, indicating defects in cilia assembly. Paclitaxel‐treated GFP‐Phlp2p cells failed to elongate cilia, indicating a change in the microtubules dynamics. The pattern of ciliary and cytosolic tubulin isoforms on 2D gels differed between wild type and GFP‐Phlp2p‐overexpressing cells. Thus, in Tetrahymena, PhLP2 is essential and under specific experimental conditions its activity affects tubulin and microtubule‐dependent functions including cilia assembly. J. Cell. Physiol. 228: 2175–2189, 2013. © 2013 Wiley Periodicals, Inc.
Therapeutic potential of a pyridoxal‐based vanadium(IV) complex showing selective cytotoxicity for cancer versus healthy cells
Authors: Strianese Maria , Basile Anna , Mazzone Antonio , Morello Silvana , Turco Maria Caterina , Pellecchia Claudio 
Published: April 2013

AbstractVanadium compounds can exert anticancer effects, partly due to inhibition of tyrosine phosphatases. Here, we report the effect of N,N′‐ethylenebis (pyridoxylideneiminato) vanadium (IV) complex (Pyr2enV(IV)), that induced 93% and 57% of cell mortality in A375 (human melanoma) and A549 (human lung carcinoma) cells, respectively; the mortality was <24% in other cancer cell lines and in human normal epidermal keratinocytes, lung cells and peripheral blood mononuclear cells. The mechanism of Pyr2enV(IV) effect relied on apoptosis induction; this was triggered by ROS increase, followed by mitochondrial membrane depolarization. Indeed, the addition of N‐acetyl cysteine to cell cultures abated Pyr2enV(IV)‐induced apoptosis. These results disclose the pro‐apoptotic activity of Pyr2enV(IV) and its mechanism, relying on intracellular ROS increase. J. Cell. Physiol. 228: 2202–2209, 2013. © 2013 Wiley Periodicals, Inc.