bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetics of Familial Mediterranean Fever
Authors: Manukyan Gayane , Aminov Rustam , Khachatryan Zaruhi , Yepiskoposyan Levon 
Published: September 2017

AbstractFamilial Mediterranean fever (FMF) is an autoinflammatory disease, which is prevalent in populations of the Mediterranean ancestry. Traditionally, FMF was considered as an autosomal recessive genetic disorder; however, several studies showed that a heterozygote state might also result in disease. Mutations responsible for the disease are located in theMEFVgene encoding a protein called pyrin/marenostrin/TRIM20. FMF is characterised by seemingly unprovoked periodic activation of innate immunity, with fever and serosal inflammation. Among more than 300 mutations in theMEFVgene, five mutations (M694V, V726A, M680I, M694I and E148Q) are the most common in classically affected populations (Armenians, Arabs, Jews and Turks). Disease severity depends on specificMEFVmutations and also on a number of other genetic or environmental modifiers. Certain evolutionary aspects of the disease were intensively investigated including the origin of majorMEFVmutations, structure‐and‐function and evolution of pyrin and potential selective advantage of heterozygous carriage.Key ConceptsFamilial Mediterranean fever (FMF, MIM 249100) is an autoinflammatory genetic disease, and it is prevalent in populations of Mediterranean origin.The highest incidence of the disorder is documented in four ethnic groups Armenians, Arabs, Jews and Turks, which are considered as ‘classically affected populations’.Clinical manifestations of FMF include periodic occurrence of fever and inflammation in the peritoneum, synovium or pleura. Renal amyloidosis is the most serious complication of the disease.The disease is caused by mutations in theMEFV(MEditerraneanFeVer) gene, which is composed of 10 exons and located on chromosome 16 (16p13.3).MEFVencodes a protein named pyrin or marenostrin or TRIM20, which is a key component of innate immunity.Presently, more than 300MEFVmutations have been identified. Five mutations (M694V, V726A, M680I and M694I in exon 10 and E148Q in exon 2) are most frequent in classically affected populations.Severity of FMF depends on specificMEFVmutations as well as on a number of other genetic and environmental modifiers.The most commonMEFVmutations display a relatively ancient origin, with the subsequent penetration to other populations following migratory and interbreeding processes.The high carriage rate ofMEFVmutations in classically affected populations may be explained by a potential selection for the heterozygote genotype, which may have conferred some sort of selective advantage for populations in the area but currently there is no proof for this.
Hsp60andHsp70Chaperones: Guardians of Mitochondrial Proteostasis
Authors: Jebara Fady , Weiss Celeste , Azem Abdussalam 
Published: September 2017

AbstractMost protein molecules are dynamic and marginally stable and therefore constantly at risk for acquiring misfolded conformations. Constant surveillance is required to preserve proteostasis. Maintenance of the mitochondrial proteome relies on a diverse set of molecular chaperones and proteases, which together form an interconnected network. An imbalance in mitochondrial proteostasis will result in the accumulation of damaged polypeptides, potentially leading to collapse of mitochondrial integrity. The Hsp60 and Hsp70 chaperone systems play a central role in the folding of matrix‐localised proteins. In this article, we summarise major aspects of the molecular function of these nano‐machines and their interplay with other matrix chaperones and proteases.Key ConceptsHsp60 and Hsp70 chaperone systems play a crucial role in the maintenance of mitochondrial proteostasis.Hsp60 and Hsp70 carry out various functions via interaction with a large number of extra‐mitochondrial complexes.In addition to its critical role in protein import into the mitochondria, Hsp70 plays an important role in protein folding, disaggregation and degradation in the mitochondrial matrix.Hsp60 is an essential protein that plays a central role in protein‐folding within the mitochondrial matrix.The Hsp60 reaction cycle differs from that of GroEL in its incorporation of a single‐ring intermediate in the reaction cycle.
The Genetics of Facial Morphology
Authors: Cole Joanne B , Spritz Richard A 
Published: September 2017

AbstractHuman facial morphology broadly encompasses several distinct facial structures that alone and together contain enormous variations which contribute to our physical identities as both individuals and members of families and populations. The human face comprises an assemblage of multifactorial complex traits, with clear genetic components and known environmental factors playing key roles in its development and maturation throughout life. Current understanding of the genes and pathways pertaining to normal facial development and morphology comes largely from research on craniofacial malformations in both humans and animal models. Recent advances in methodology for deriving accurate and precise facial traits have allowed for several large genomic studies that have provided new insights into the heritability and genes involved in normal facial variation. Continued research on the genetics of facial morphology will improve quantitative diagnosis, treatment and management of craniofacial syndromes, perhaps enabling us to one day model the human face from deoxyribonucleic acid (DNA).Key ConceptsUnderstanding the genetics of normal human facial morphology and development provides insights relevant to the fields of both medicine and forensics.The known genes and signalling pathways that are involved in craniofacial development have mostly been identified through studies of craniofacial malformations and typically relate to the embryonic development of cranial neural crest cells.Quantifying normal human facial traits that are both accurate and precise is exceedingly important to understanding the genetic architecture of those traits.There exist numerous diverse quantitation methods for studying both the underlying facial skeleton and the overlying soft facial tissues.Overall, the human face is highly heritable. However, large differences in the study design and population attributes pertaining to age, ethnicity and environmental background have led to limited consistency in heritability estimates and genetic conclusions.Five genome‐wide association studies to date have identified largely non‐overlapping genome‐wide significant loci for normal facial morphology, with some of these located in or near genes previously implicated in rare craniofacial syndromes and/or facial development.Animal studies of facial development are a powerful tool both for identifying candidate genes and for functional analyses of candidate genes from human studies.
Evolution of Culture
Authors: Bradie Michael 
Published: September 2017

AbstractTheories of cultural evolution are attempts to model cultural change as an evolutionary process. Drawing inspiration from Darwin's theory of evolution, there are four major contemporary approaches to the evolution of culture which differ from one another in the extent to which they see the engine of cultural evolution as analogous to Darwinian natural selection. One of the major motivations for ‘Darwinising’ culture is to incorporate the study of human behaviour into the modern synthesis and to provide a framework for the unification of the social sciences. It remains an open question how successful this project can be.Key ConceptsThe concept of culture is a social construction.Theories of the emergence of culture as a biological adaptation need to be distinguished from theories of the transmission of culture.Constructed cultural niches are an important environmental influence on genetic and cultural evolution.The integration of the social sciences into the Modern Synthesis has been only partially successful.Theories of cultural evolution are attempts to model change as an evolutionary process.
Recent Advances in Acid–Base and Solvation Properties of Metal Phenolates
Authors: Bastos Erick L. , Machado Caroline O. 
Published: September 2017

AbstractThis chapter is an update of a recent review on the acid–base chemistry and solvation properties of metal phenolates. After a brief introduction on the physicochemical properties of metal phenolates, the interaction between phenolate ligands and metal Lewis acids is discussed. Examples of solvent effects on the acid–base properties, structure, and chemical reactivity are presented. Furthermore, the interaction of multidentate phenolic ligands and metal cations is highlighted because of their relevance in transition‐metal coordination chemistry, catalyst development, metalloenzyme mimicry, cytotoxicity, and magnetic properties.
Asymmetric Synthesis of Quaternary Stereocenters via Metal Enolates
Authors: Korch Katerina M. , Loskot Steven A. , Stoltz Brian M. 
Published: September 2017

AbstractThe strategy of using chiral metal enolate intermediates in a diverse variety of asymmetric transformations has allowed the generation of quaternary stereocenter‐bearing products that are otherwise difficult to access. Many classic transformations including aldol, Mannich, conjugate addition, alkylation, and pericyclic‐type reactions, as well as allylic alkylation and α‐arylation/alkenylation, have been adapted to proceed through chiral metal enolate intermediates, allowing the asymmetric synthesis of many complex products in both an intermolecular and intramolecular manner. These transformations have proven useful in the synthesis of natural products and may also be applied to the synthesis of novel pharmaceuticals and other compounds of interest in the future. This review includes work done up to and including the year 2014.
Base‐Free Selective O‐Arylation and Sequential [3,3]‐Rearrangement of Amidoximes with Diaryliodonium Salts: Synthesis of 2‐Substituted Benzoxazoles
Authors: Shi Wei‐Min , Li Xiao‐Hua , Liang Cui , Mo Dong‐Liang 
Published: September 2017

AbstractA variety of functionalized 2‐substituted benzoxazoles can be prepared in good yields from amidoximes and diaryliodonium salts by selective O‐arylation and sequential [3,3]‐rearrangement under metal‐free conditions. O‐arylation of amidoximes was promoted by 3 Å molecule sieves in the absence of a base and a sequential TFA‐mediated [3,3]‐rearrangement was used to synthesize 2‐substituted benzoxazoles. Both of the O‐aryl products and rearrangement products were compatible with a broad range of sensitive functional groups such as ester, aldehyde, nitro, vinyl, amine, and amide groups in addition to halides. A bidentate N‐ligand with double benzoxazoles was prepared at gram‐scale in two steps.magnified image
Clinical implication of surgical resection for recurrent biliary tract cancer: Does it work or not?
Authors: Miyazaki Masaru , Shimizu Hiroaki , Yoshitomi Hideyuki , Kato Atsushi , Furukawa Katsunori , Takayashiki Tsukasa , Kuboki Satoshi , Takano Shigetsugu , Ohtsuka Masayuki 
Published: September 2017

AbstractAlthough recent advances in imaging diagnosis, surgical techniques, and perioperative management can result in increased resectability and improved surgical outcomes, most resected patients still develop cancer recurrence. If patients develop cancer recurrence, their prognosis is very ominous. However, there have been some recent reports to show promising outcomes by aggressive surgical strategy in selected patients who developed cancer recurrence. Because there are various surgical procedures being selected at initial surgery in patients with biliary tract cancers, recurrent patterns after resection are very variable in each patient. However, surgical procedures might usually be very complicated and difficult if re‐surgical resection is considered in patients with recurrent biliary tract cancer, Therefore, surgical re‐resection could bring about high surgical morbidity and mortality rates in most previously reported series. Although re‐surgical resection might offer a chance of favorable outcome in selected patients with biliary tract cancers, these aggressive surgical approaches should be carried out in strictly selected patients by expert surgeons at high‐volume centers.
Solid‐State Thermochromic Luminescence through Twisted Intramolecular Charge Transfer and Excimer Formation of a Carborane−Pyrene Dyad with an Ethynyl Spacer
Authors: Nishino Kenta , Yamamoto Hideki , Tanaka Kazuo , Chujo Yoshiki 
Published: September 2017

AbstractThe pyrene‐tethered carborane CBEP, which exhibited rapid and dramatic luminochromism, was synthesized. Based on optical measurements, we found that CBEP exhibited orange emission at room temperature, which was caused by intramolecular charge transfer in the solid state, and green excimer emission at 77 K. We proposed that excimer formation could be encouraged by introducing a small amount of steric hindrance with an ethynyl spacer group. We found that o‐carborane could suppress aggregation‐caused quenching without the inhibition of excimer formation because of this steric hindrance.
Silver Thiolate Nano‐sized Molecular Clusters and Their Supramolecular Covalent Frameworks: An Approach Toward Pre‐templated Synthesis
Authors: Chen Zi‐Yi , Tam Dennis Y. S. , Zhang Leon Li‐Min , Mak Thomas C. W. 
Published: September 2017

AbstractA series of seven new complexes including silver‐thiolate molecular clusters and their covalent supramolecular frameworks have been assembled from the silver carbide precursor Ag2C2 using a C22− pre‐templated approach. Herein, two prototype clusters Ag14(SR)6 and CO3@Agm(SR)10 (R=isopropyl, cyclohexyl or tert‐butyl; m=18 or 20) are employed to construct cluster‐based metal–organic frameworks of different dimensions. In particular, both new ellipsoidal tetradecanuclear molecular cluster compounds, namely, Ag14(S‐iPr)6(CO2CF3)8⋅(DMSO)6 (two polymorphic forms 1, 2) and [Ag14(S‐Cy)6(CO2CF3)8(DMSO)4]⋅(DMSO)3 (3), and a cluster‐based metal–organic framework {Ag3[Ag14(S‐iPr)6(CO2CF3)11(H2O)3CH3OH]⋅(H2O)2.5}n (4) have been isolated and structurally characterized. Furthermore, increased acidity of the reaction mixture afforded three carboxylate‐templated cluster based frameworks: a chain‐like compound {[HN(CH3)2CO]⋅[CO3@Ag18(S‐tBu)10(NO3)7(DMF)4]⋅DMF}n (5), as well as two layer‐type compounds, namely, {Ag[CO3@Ag20(S‐iPr)10(CO2CF3)9(CO2HCF3)(CH3OH)2]}n (6) and {Ag2[CO3@Ag20(S‐Cy)10(CO2CF3)10(CO2HCF3)2(H2O)2]⋅(H2O)3⋅(CH3OH)3}n (7) exhibiting sql‐net characteristics. It is demonstrated that the C≡C2− pre‐template, which draws several Ag+ ions together to form the C2@Agn entity, plays an indispensable role in the syntheses of these compounds. Furthermore, covalent linkage of these nano‐sized silver thiolate clusters from one‐ to three‐dimensions revealed enormous potential for the future development of silver cluster‐based frameworks.
Design of Optimal Petri Net Supervisors for Flexible Manufacturing Systems via Weighted Inhibitor Arcs
Authors: Cong XuYa , Gu Chao , Uzam Murat , Chen YuFeng , Al‐Ahmari Abdulrahman M. , Wu NaiQi , Zhou MengChu , Li ZhiWu 
Published: September 2017

AbstractThis paper develops an approach to the design of an optimal Petri net supervisor that enforces liveness to flexible manufacturing systems. The supervisor contains a set of observer places with weighted inhibitor arcs. An observer place with a weighted inhibitor arc is used to forbid a net from yielding an illegal marking by inhibiting the firing of a transition at a marking while ensuring that all legal markings are preserved. A marking reduction technique is presented to decrease the number of considered markings, which can dramatically lower the computational burden of the proposed approach. An integer linear program is presented to simplify the supervisory structure by minimizing the number of observer places. Finally, several examples are used to shed light on the proposed approach which can lead to an optimal supervisor for the net models that cannot be optimally controlled via pure Petri net supervisors.
Complete remission of chemo‐refractory multiple‐metastatic upper tract urothelial carcinoma by autologous formalin‐fixed tumor vaccine
Authors: Miyoshi Tatsu , Kashiwabara Takeshi , Asahi Atsuko , Kataoka Tatsuji , Maruyama Takashi , Okada Rika , Uemae Yoji , Ohno Tadao 
Published: September 2017

Key Clinical MessageA patient with chemo‐refractory multiple‐metastatic upper tract urothelial carcinoma (UTUC) treated by monotherapy with autologous formalin‐fixed tumor vaccine (AFTV) resulted in complete remission of the lung and para‐aortic lymph node metastases (ongoing >3 years after AFTV). The tumor was immunohistologically negative for PD‐L1. AFTV will be an attractive treatment option.
Contraction of π‐Conjugated Rings upon Oxidation from Cyclooctatetraene to Benzene via the Tropylium Cation
Authors: Tamoto Akira , Aratani Naoki , Yamada Hiroko 
Published: September 2017

AbstractWe have serendipitously discovered a unique transformation of a cyclooctatetraene derivative 1 into a cycloheptatriene spirolactone 3 upon oxidation, which is the first such transformation reported in 60 years. Product 3 could be reversibly interconverted into the aromatic tropylium cation 3H+ by acid/base treatment, which was accompanied by drastic spectroscopic changes. The resultant cycloheptatriene could be further converted into benzene upon oxidation. We characterized all the key structures by X‐ray studies. Eventually, the π‐conjugated ring size shrinks from 8 to 7, then finally to 6 upon oxidation, in the direction of the stronger aromatization.
Chemoselective and Catalyst‐Free O‐Borylation of Silanols: A Facile Access to Borasiloxanes
Authors: Kuciński K. , Hreczycho G. 
Published: September 2017

AbstractThis paper demonstrates the first highly chemoselective syntheses of various borasiloxanes from hydroboranes and silanols, achieved through catalyst‐free dehydrogenative coupling at room temperature. This green protocol, which uses easily accessible reagents, allows for the obtaining of borasiloxanes under air atmosphere and solvent‐free conditions.
Age‐dependent expression of Nav1.9 channels in medial prefrontal cortex pyramidal neurons in rats
Authors: Gawlak Maciej , Szulczyk Bartłomiej , Berłowski Adam , Grzelka Katarzyna , Stachurska Anna , Pełka Justyna , Czarzasta Katarzyna , Małecki Maciej , Kurowski Przemysław , Nurowska Ewa , Szulczyk Paweł 
Published: September 2017

ABSTRACTDevelopmental changes that occur in the prefrontal cortex during adolescence alter behavior. These behavioral alterations likely stem from changes in prefrontal cortex neuronal activity, which may depend on the properties and expression of ion channels. Nav1.9 sodium channels conduct a Na+current that is TTX resistant with a low threshold and noninactivating over time. The purpose of this study was to assess the presence of Nav1.9 channels in medial prefrontal cortex (mPFC) layer II and V pyramidal neurons in young (20‐day old), late adolescent (60‐day old), and adult (6‐ to 7‐month old) rats. First, we demonstrated that layer II and V mPFC pyramidal neurons in slices obtained from young rats exhibited a TTX‐resistant, low‐threshold, noninactivating, and voltage‐dependent Na+current. The mRNA expression of the SCN11a gene (which encodes the Nav1.9 channel) in mPFC tissue was significantly higher in young rats than in late adolescent and adult rats. Nav1.9 protein was immunofluorescently labeled in mPFC cells in slices and analyzed via confocal microscopy. Nav1.9 immunolabeling was present in layer II and V mPFC pyramidal neurons and was more prominent in the neurons of young rats than in the neurons of late adolescent and adult rats. We conclude that Nav1.9 channels are expressed in layer II and V mPFC pyramidal neurons and that Nav1.9 protein expression in the mPFC pyramidal neurons of late adolescent and adult rats is lower than that in the neurons of young rats. © 2017 Wiley Periodicals, Inc. Develop Neurobiol 77: 1371–1384, 2017
Multivariable Controller Design Achieving Diagonal Dominance Using Frequency Response Data
Authors: SHINODA SHOGO , YUBAI KAZUHIRO , YASHIRO DAISUKE , HIRAI JUNJI 
Published: September 2017

SUMMARYA model‐based controller design method is widely used in the industrial field. However, in this method, a modeling error deteriorates the control performance. This article proposes a multivariable controller design method using only frequency response data sets. This method omits the time‐consuming model identification and designs a controller directly from raw data sets of the controlled plant. The proposed method provides the parameters of a PID controller using convex optimization subject to stability constrains. The optimization problem is formulated in terms of the diagonal dominance of the system. The designed controller suppresses an interaction and achieves high gain of the system in the case of highly diagonal dominance. The stability of MIMO systems can be evaluated by eigenvalue loci without overestimation of eigenvalue loci. The formulated optimization problem involving nonconvex functions and/or constraints is solved using concave–convex procedure that solves a problem written as a difference between two convex functions. The experimental results show the effectiveness of the proposed method in comparison with the conventional method.
Invading oysters and native mussels: from hostile takeover to compatible bedfellows
Authors: Reise Karsten , Buschbaum Christian , Büttger Heike , Wegner K. Mathias 
Published: September 2017

AbstractUnintended species introductions may offer valuable insights into the functioning of species assemblages. A spectacular invasion of introduced Pacific oysters Magallana (formerly Crassostrea) gigas in the northern Wadden Sea (eastern North Sea, NE Atlantic) has relegated resident mussels Mytilus edulis on their beds to subtenant status. At the beginning of feral oyster establishment, mussel beds offered suitable sites with ample substrate to settle upon. After larval attachment to mussels, the fast‐growing M. gigas overtopped and smothered their basibionts. With increasing Pacific oyster abundance and size, oyster larvae preferentially settled upon oysters, and the ecological impact of the invaders on the residents changed from competitive displacement to accommodation of mussels underneath a canopy of oysters. Oysters took the best feeding positions while mussels received shelter from predation and detrimental epibionts. The resident's mono‐dominance has turned into co‐dominance with an alien, persisting in novel, multi‐layered mixed reefs of oysters with mussels, which we term “oyssel reefs.” The first 26 yr of the Pacific oyster's conquest of mussel beds in the northern Wadden Sea may question the overcome notions of natural balance, superiority of pristine over novel species combinations, and of introduced alien species threatening biodiversity and ecosystem stability in general.