bluuebunny/crossref_metadata_2025_split huggingface dataset:
Vavilov, Nikolai Ivanovich
Authors: Roll‐Hansen Nils 
Published: April 2014

Abstract

Nikolai Ivanovich Vavilov (1887–1943) was a Russian botanist, plant geographer, breeder and geneticist. A charismatic scientific leader of the rapid expansion of Soviet agricultural science in the 1920s and early 1930s, his most important scientific contribution was the theory of centres of origin of cultivated plants, which guided the development of the ‘World collection of cultivated plant’. This was the world's first large scale gene bank and a major benchmark in the history of modern plant breeding and conservation of genetic heritage. Vavilov was arrested in 1940 on characteristic Stalinist charges of counter‐revolutionary activities, wrecking of Soviet economy and espionage for Western powers. The real reason was his defence of classical genetics against the politically supported pseudoscientific theories of ‘agrobiology’ promoted by T.D. Lysenko and his followers. Vavilov had a central role in the international ideological and political controversies over science in the middle decades of the twentieth century. First, in the turbulent 1930s, as an active leader in Soviet science; and then, after his arrest in 1940 and death in 1943, as a symbol of scientific freedom and autonomy on the intellectual front of the Cold War.
Gould, Stephen Jay
Authors: Ruse Michael 
Published: April 2014

AbstractStephen Jay Gould (1941–2002) was a Harvard‐based American palaeontologist (‘paleobiologist’) and popular science writer who was known for his theory of ‘punctuated equilibrium’, evolution by jumps, as well as his fights against creationism and human sociobiology. He saw evolutionary theory as hierarchical and believed that at the top levels there was a process he called ‘species selection’, something that palaeontologists uniquely are able to discern and understand. Although his work was much appreciated by the general public, he could irritate his fellow scientists. No one, however, denied the deep moral passions that drove his thinking and writing.
Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome
Authors: Rasmussen Lene Juel , Heinen Christopher D 
Published: April 2014

Abstract

A significant fraction of cancer is the result of genetic predisposition. Frequently, in patients with suspected cancer predisposition, subtle variations are found in predisposing genes. Currently, it is often not possible to determine whether such variants are pathogenic, thus they are termed variants of uncertain significance (VUS). This leads to anxiety in carriers and noncarrying relatives alike, as well as to an unnecessary burden to preventive healthcare. The establishment of procedures that enable the diagnostic assessment of VUSs in individuals are discussed and hereditary colorectal cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and
in silico
approaches.

Key Concepts:

Biological knowledge is essential for functional characterisation of variants of uncertain significance (VUS).

Diagnosis of inherited cancer disorders requires integration of clinical and biological data.

DNA mismatch repair is defective in Lynch syndrome.

Deficient DNA mismatch repair causes genomic instability including microsatellite instability.

Classification of variants of uncertain significance is important for implementation of cancer prevention strategies.
Gene Therapy for Neurodevelopmental Disorders
Authors: McCarty Douglas M , Fu Haiyan 
Published: April 2014

Abstract

Neurodevelopmental disorders (NDDs) are a heterogeneous group of devastating conditions characterised by impairments of the central nervous system early during course of development and maturation. Although common NDDs tend to have complex aetiology, other major NDDs are inherited disorders with a known single‐gene or chromosomal abnormality. Effective treatments are rare for these diseases. The most critical challenges in therapeutic development are the broad, complex neuropathology and circumventing the blood–brain barrier. Gene therapy has been a promising approach for treating NDDs, especially monogenic disorders. With recent progress in understanding the disease mechanisms, and improvements to gene delivery vectors and strategies, the clinical potential of gene therapy for NDDs is being realised. This is particularly true for the neuropathic lysosomal storage diseases, in which multiple promising vector administration approaches are under development.

Key Concepts:

Gene therapy provides therapeutics by delivery of targeted genes.

Monogenic NDDs are good candidates for gene therapies that target the root causes.

Neuropathology of NDDs is usually broad or global in the CNS.

The blood–brain barrier poses a major challenge for CNS gene delivery.

Adeno‐associated virus serotype 9 vector has the ability to cross the blood–brain barrier.
Genetics of Pheochromocytoma
Authors: Martucci Victoria L , Pacak Karel 
Published: April 2014

Abstract

Pheochromocytoma (PHEO) and paraganglioma (PGL) are closely related neuroendocrine tumours of the chromaffin tissues of the sympathetic and parasympathetic nervous system. These rare tumours have a strong genetic component, with underlying germline and somatic mutations in one of 17 genes found in approximately 50%. Clinical presentations of PHEO/PGL vary based on the affected gene, and understanding these differences can help guide genetic testing, an important part of PHEO/PGL patient management. Despite the differences in presentation and gene function, all 17 genes may affect a single pathway. Particularly, recent proposals have focused on hypoxia‐inducible factors (HIFs) as key players in PHEO/PGL, due to the known pseudohypoxic environment found in these tumours and the central role played by HIFs in cellular processes. By linking the susceptibility genes to a central potential therapeutic target like HIF, new treatment methods could soon be introduced to improve the outcomes of PHEO/PGL patients.

Key Concepts:

Pheochromocytomas and paragangliomas have the strongest genetic component of any endocrine tumour; half or more are linked to germline and somatic mutations in 17 genes.

The clinical presentations associated with each gene vary, particularly with regard to tumour location, multiplicity, biochemical phenotype, average patient age at diagnosis and risk of metastases.

Genetic testing is an essential component of PHEO/PGL management, but can be costly and time‐consuming; newer techniques to resolve these limitations are being explored.

Messenger RNA expression profiles can help broadly classify PHEO/PGL into two well‐established clusters based on their broader mechanistic errors.

Additional clustering mechanisms are being proposed based on other analyses, including miRNA, transcriptomic, metabolomic and proteomic studies.

Beyond clustering, unifying theories to link PHEO/PGL susceptibility genes have been proposed to link all 17 genes to a common signalling pathway, focusing particularly on the processes of apoptosis and hypoxia response.

Identifying common targets between the genes could aid in the identification of novel treatment strategies for patients with these rare neuroendocrine tumours.
Integrating Robotic Fabrication in the Design Process
Authors: Budig Michael , Lim Jason , Petrovic Raffael 
Published: April 2014

AbstractDoes the application of robotic technologies in Southeast Asian cities, where the residential high‐rise is pre‐eminent, provide a unique opportunity to introduce bespoke design elements and liberate the high‐rise from serial production and standardisation? Michael Budig, Jason Lim and Raffael Petrovic of the Future Cities Laboratory (FCL) at the Singapore‐ETH Centre for Global Environmental Sustainability (SEC) introduce the research project ‘Design of Robotic Fabricated High Rises’ (2012‐13) led by Fabio Gramazio and Matthias Kohler, exploring high‐rise typologies and architectural scenarios for future vertical cities.
Computation or Revolution
Authors: Morel Philippe 
Published: April 2014

AbstractThe connection between technology and society today remains as compelling as in Le Corbusier's time, with views from social commentators, scientists and economists habitually polarising around the adverse or positive impact of technological change. Tracing the roots of computation and robotics back to the Second World War, Philippe Morel of EZCT Architecture & Design Research redefines the position of artificial intelligence, robots and computation in architecture, highlighting the potential of computers to perform precise calculations – and outperform human intelligence in almost every way.
Tripodal Fluorescent Sensor for Encapsulation‐Based Detection of Picric Acid in Water
Authors: Kumar Rahul , Sandhu Sana , Singh Prabhpreet , Hundal Geeta , Hundal Maninder Singh , Kumar Subodh 
Published: April 2014

AbstractThe combination of steric gearing in substituted triethylbenzene and linear structures of 1‐(4‐biphenyl)(benz)imidazolium moieties have been used to design and synthesize tripodal chemosensors with preorganized cavities for detection of picric acid (PA) in (4‐(2‐hydroxyethyl)‐1‐piperazineethanesulfonic acid (HEPES) buffer. The two chemosensors undergo highly selective fluorescence quenching with PA and lead an approximate tenfold increase in KSV values (3.57×105 M−1 and 2.67×105 M−1) and greater than 2000 times higher sensitivity than earlier reported benzimidazolium‐based chemosensors. The upfield shift of PA protons (Δδ≈0.8) in 1H NMR titration studies reveals encapsulation of PA in the cavity of the sensors. In water, one of the sensors can detect 1.0 nM PA as the lowest detection limit and TLC strips doped with the same sensor can detect 137 ag cm‐2 of PA under UV illumination. Thin films of this sensor undergo fluorescence quenching in the presence of PA vapor in less than 120 seconds.
Temperaturgesteuerte Wasserfiltration mit Mikrogel‐modifizierten Hohlfasermembranen
Authors: Menne Daniel , Pitsch Fee , Wong John E. , Pich Andrij , Wessling Matthias 
Published: April 2014

AbstractIn dieser Studie wird das Potential wässriger polymerbasierter Mikrogele als Funktionselement in der Membranfiltration untersucht, wobei das Hauptaugenmerk auf schaltbaren Filtrationsanwendungen liegt. Zur Funktionalisierung von Mikro‐ und Ultrafiltrationshohlfasermembranen verwendeten wir Mikrogele, die auf Poly(N‐vinylcaprolactam) basieren und ein thermoresponsives Verhalten aufweisen. Die Mikrogel‐modifizierten Membranen werden mittels “inside‐out”‐ und “outside‐in”‐Filtration im Dead‐End‐Modus bei konstantem Flux hergestellt. Die Reinwasserpermeabilität und die Stabilität dieser Membranen werden nicht nur in Abhängigkeit der Zeit dargestellt, sondern auch in Abhängigkeit der Temperatur. Die Mikrogel‐modifizierte Membran weist ein reversibles thermoresponsives Verhalten auf, wobei der viskositätskorrigierte Permeationswiderstand sowie auch der Rückhalt mit sinkender Temperatur ansteigt.
DNA‐Templated Assembly of a Heterobivalent Quantum Dot Nanoprobe For Extra‐ and Intracellular Dual‐Targeting and Imaging of Live Cancer Cells
Authors: Wei Wei , He Xuewen , Ma Nan 
Published: April 2014

AbstractQuantum dots (QDs) hold great promise for the molecular imaging of cancer because of their superior optical properties. Although cell‐surface biomarkers can be readily imaged with QDs, non‐invasive live‐cell imaging of critical intracellular cancer markers with QDs is a great challenge because of the difficulties in the automatic delivery of QD probes to the cytosol and the ambiguity of intracellular targeting signals. Herein, we report a new type of DNA‐templated heterobivalent QD nanoprobes with the ability to target and image two spatially isolated cancer markers (nucleolin and mRNA) present on the cell surface and in the cell cytosol. Bypassing endolysosomal sequestration, this type of QD nanoprobes undergo macropinocytosis following the nucleolin targeting and then translocate to the cytosol for mRNA targeting. Fluorescence resonance energy transfer (FRET) based confocal microscopy enables unambiguous signal deconvolution of mRNA‐targeted QD nanoprobes inside cancer cells.
Sequential Intra‐Intercellular Nanoparticle Delivery System for Deep Tumor Penetration
Authors: Ju Caoyun , Mo Ran , Xue Jingwei , Zhang Lei , Zhao Zekai , Xue Lingjing , Ping Qineng , Zhang Can 
Published: April 2014

AbstractTo achieve deep tumor penetration of large‐sized nanoparticles (NPs), we have developed a reversible swelling–shrinking nanogel in response to pH variation for a sequential intra‐intercellular NP delivery. The nanogel had a crosslinked polyelectrolyte core, consisting of N‐lysinal‐N′‐succinyl chitosan and poly(N‐isopropylacrylamide), and a crosslinked bovine serum albumin shell, which was able to swell in an acidic environment and shrink back under neutral conditions. The swelling resulted in a rapid release of the encapsulated chemotherapeutics in the cancer cells for efficient cytotoxicity. After being liberated from the dead cells, the contractive nanogel could infect neighboring cancer cells closer to the center of the tumor tissue.
Chemoselective Intermolecular α‐Arylation of Amides
Authors: Peng Bo , Geerdink Danny , Farès Christophe , Maulide Nuno 
Published: April 2014

AbstractA new approach for the fully chemoselective α‐arylation of amides is presented. By means of electrophilic amide activation, aryl groups can be regioselectively introduced α‐ to amides, even in the presence of esters and alkyl ketones. Mechanistic studies reveal key reaction intermediates and emphasize a remarkably subtle base effect in this transformation.
Ending Aging in Super Glassy Polymer Membranes
Authors: Lau Cher Hon , Nguyen Phuc Tien , Hill Matthew R. , Thornton Aaron W. , Konstas Kristina , Doherty Cara M. , Mulder Roger J. , Bourgeois Laure , Liu Amelia C. Y. , Sprouster David J. , Sullivan James P. , Bastow Timothy J. , Hill Anita J. , Gin Douglas L. , Noble Richard D. 
Published: April 2014

AbstractAging in super glassy polymers such as poly(trimethylsilylpropyne) (PTMSP), poly(4‐methyl‐2‐pentyne) (PMP), and polymers with intrinsic microporosity (PIM‐1) reduces gas permeabilities and limits their application as gas‐separation membranes. While super glassy polymers are initially very porous, and ultra‐permeable, they quickly pack into a denser phase becoming less porous and permeable. This age‐old problem has been solved by adding an ultraporous additive that maintains the low density, porous, initial stage of super glassy polymers through absorbing a portion of the polymer chains within its pores thereby holding the chains in their open position. This result is the first time that aging in super glassy polymers is inhibited whilst maintaining enhanced CO2 permeability for one year and improving CO2/N2 selectivity. This approach could allow super glassy polymers to be revisited for commercial application in gas separations.
Enhanced gas separation properties of metal organic frameworks/polyetherimide mixed matrix membranes
Authors: Duan Cuijia , Kang Guodong , Liu Dandan , Wang Lina , Jiang Can , Cao Yiming , Yuan Quan 
Published: April 2014

ABSTRACTMetal organic frameworks (MOFs) are supposed to be ideal additives for mixed matrix membranes (MMMs). In this article one kind of MOFs, Cu3(BTC)2, is synthesized, then directly incorporated into a model polymer (Ultem®1000) using N,N‐dimethylacetamide as solvent. Cu3(BTC)2 particles are uniformly dispersed and there are no interfacial defects in the prepared MMMs when Cu3(BTC)2 loading is not more than 35 wt %, seen in SEM images. Pure gas permeation tests show that gas permeability increases obviously with Cu3(BTC)2 loading increase, while ideal selectivities of CO2/N2 and CO2/CH4 are almost unchanged. For MMM with the best separation property, CO2 permeability increases about 2.6 times and CO2/N2 selectivity remains almost unchanged. Results about gas diffusivity and solubility indicate that gas diffusivity and solubility make contribution to gas permeability increase at the same time but in different ways. Gas permeation properties of MMMs are well predicted by Maxwell or Bruggeman model. © 2014 The Authors Journal of Applied Polymer Science Published by Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40719.
Recent advances in molecularly imprinted polymers in food analysis
Authors: Song Xingliang , Xu Shoufang , Chen Lingxin , Wei Yingqin , Xiong Hua 
Published: April 2014

ABSTRACTFood security as a world issue has received increasing concern, and therefore, effective analytical methods and technologies have been continuously developed. However, the matrix complexity of food samples and the trace/ultratrace presence of targeted analytes require highly efficient cleanup and enrichment materials and procedures. Molecularly imprinted polymers (MIPs) with specific recognition abilities as versatile materials are being increasingly developed for diverse species in various fields, especially in food analysis. In this review, we mainly summarize the recent advances in MIPs used for food matrices over the last 5 years. We focus on toxic and harmful substances, such as pesticide/drug residues, heavy metals, microbial toxins, and additives. Some relatively new preparation methods involving surface imprinting, composites, and stimuli responsiveness are reviewed. Different MIPs as solid‐phase adsorbents in solid‐phase extraction, solid‐phase microextraction, matrix solid‐phase dispersion, stirring bar sorptive extraction, and magnetic material extraction and as stationary phases in chromatographic separation for foodstuff have been comprehensively summarized. MIP‐based biomimetic sensing and enzymelike catalysis receive special attention. Moreover, some limitations and comparisons related to MIPs performances are also discussed. Finally, some significant attempts to further promote MIP properties and applications to ensure food safety are discussed. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40766.
Release mechanisms of semipolar solutes from poly(dimethylsiloxane) elastomers: Effect of a hydrophilic additive
Authors: Panou Athanasia I. , Papadokostaki Kyriaki G. , Sanopoulou Merope 
Published: April 2014

ABSTRACTThe release profiles of three xanthine derivatives from matrices of pure poly(dimethylsiloxane) (PDMS), and the effect of incorporating 10% w/w polyethylene glycol (PEG)−3000 in the matrix are presented. Theobromine (TBR), theophylline (TPL), and caffeine (CAF), although structurally very similar, are characterized by different physicochemical properties. In addition, differential scanning calorimetry and scanning electron microscopy measurements indicate different physical interactions with the polymeric matrices. The observed rates of release from pure PDMS matrices loaded at 0.065 g/g with each one of the drugs increase in the order TBR < TPL < CAF. The same order holds for the corresponding permeabilities derived from the release kinetic data. The slopes of the release curves versus the square root of time were linearly correlated to the square root of calculated solubilities in the polymer, as expected by the Higuchi equation for diffusive transport of solutes of the same diffusivity. The incorporation of 10% w/w PEG in the PDMS matrix accelerates the release rate of each drug, because of the concurrent water uptake induced by the hydrophilic additive. The extent of the corresponding permeability enhancement for theophylline was close to that predicted by the Maxwell equation for a composite two‐phase system, consisting of a PDMS continuous phase characterized by a much lower permeability than that of the fully swollen PEG dispersed phase. The corresponding enhancement of permeability was higher for TBR and lower for CAF. Possible reasons for these differences are discussed. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40782.
Controlling enantioselectivity of esterase in asymmetric hydrolysis of aryl prochiral diesters by introducing aromatic interactions
Authors: Guo Fei , Franzen Stefan , Ye Lidan , Gu Jiali , Yu Hongwei 
Published: April 2014

ABSTRACTAromatic interactions specific to aryl radicals were introduced into two esterases, BioH from Escherichia coli and RspE from Rhodobacter sphaeroides to control their enantioselectivity in the asymmetric hydrolysis of prochiral aryl glutaric acid diesters. As a result, the enantiomeric excess (ee) of the S‐product of dimethyl 3‐phenylglutarate was increased from 25% (BioH wild type) to 96% (B_L83F/L86F) and from 13% (RspE wild type) to >99% (R_Y27R), respectively, while another variant of RspE R_M121F gave a reversed ee of 50% (R‐product). Similar enhancement or reversion of enantioselectivity were also observed in the hydrolysis of three other prochiral aryl diesters (dimethyl 3‐(4‐flouro)‐phenylglutarate, dimethyl 3‐(4‐cholo)‐phenylglutarate and dimethyl 3‐(3,4‐dicholo)‐phenylglutarate). Especially, the mutant R_Y27R was shown to be an excellent S‐selective hydrolase for prochiral aryl diesters, with ee of all S‐products >99%. In the mutants with altered enantioselectivity, the successful introduction of designed aromatic interactions was confirmed by molecular dynamics simulations and binding free energy analysis. These results demonstrate that aromatic interaction is one of the origins of enzyme enantioselectivity, the tuning of which leads to dramatic change in enantioselectivity. Besides, the successful engineering of the enantioselectivity in two different proteins toward four different substrates suggests that the introduction of aromatic interactions is a generally applicable strategy in the control of enantioselectivity toward aryl substrates. Biotechnol. Bioeng. 2014;111: 1729–1739. © 2014 Wiley Periodicals, Inc.
Paternal Filicide in the Context of Domestic Violence: Challenges in Risk Assessment and Risk Management for Community and Justice Professionals
Authors: Jaffe Peter G. , Campbell Marcie , Olszowy Laura , Hamilton Leslie Hazel Anne 
Published: April 2014

Paternal filicide in the context of domestic violence is a rare event that is often hard to predict and prevent. However, the results from current research with domestic homicide review committees suggest that warning signs may be overlooked by some professionals and agencies that do not foresee the direct harm to children. Even in cases where the dangers to adult victims were recognised, the potential harm to the children was not seen. Child homicides in the context of domestic violence are often motivated by revenge against the mother for leaving the abusive relationship. The findings suggest that adult homicides and child homicides, which take place in the context of domestic violence, have similar warning signs. The findings have implications for all professionals working in the healthcare, social service, education and justice sectors. In particular, there is a need for close coordination among family and criminal courts, professionals to ensure that the safety plan for a parent in these circumstances extends to the children as well. Copyright © 2014 John Wiley & Sons, Ltd.‘Child homicides in the context of domestic violence are often motivated by revenge’Key Practitioner Messages

Paternal filicide is a rare event that is often hard to predict and prevent.
Current research with domestic homicide review committees suggests that warning signs may be overlooked by some professionals and agencies that do not foresee the direct harm to children.
Child homicides in the context of domestic violence are often motivated by revenge against the mother for leaving the abusive relationship.
There is a need for close coordination amongst family and criminal Court professionals to ensure that the safety plan for a parent in these circumstances extends to the children as well.‘Warning signs may be overlooked by some professionals and agencies that do not foresee the direct harm to children’