bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neurofibromatosis Type 2 Clinics and Genetics
Authors: Kluwe Lan , Farschtschi Said , Mautner Victor‐F 
Published: September 2017

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by multiple benign tumours of the nervous system. More than 90% of the patients develop bilateral vestibular schwannomas, which are the hallmark of NF2 and lead to progressive hearing loss in adult patients. Spinal tumours are as frequent as bilateral vestibular schwannomas, whereas approximately one‐third of them cause neurological symptoms. Cranial nonvestibular schwannomas, meningiomas and ependymomas are also frequent in NF2, as well as ophthalmological lesions and peripheral polyneuropathy. With a birth incidence of around 1 in 25 000, the genetic cause for NF2 is the heterozygous inactivation of the
NF2
tumour suppressor gene on 22q. More than half (50–80%) of NF2 patients are founders who bear
de novo
mutations among whom mosaicism is frequent (at least 25–30%). NF2 is a complex syndrome and demands interdisciplinary care, experienced specialists, social and psychological support and rehabilitation measures.

Key Concepts

NF2 is a tumour suppressor gene syndrome and is characterised by multiple benign cerebral and spinal tumours.

Bilateral vestibular schwannomas are the hallmark of NF2.

The genetic cause for NF2 is the heterozygotic inactivating mutation of the
NF2
gene on 22q.

Mosaicism is frequent among
de novo
NF2 patients (>25–30%).

NF2 is a complex syndrome and demands interdisciplinary care, experienced specialists, coordinated social and psychological supports and rehabilitation measures.
Contemporary Forms of Eugenics
Authors: Wilson Robert A 
Published: September 2017

Abstract

Eugenics is commonly thought of as having endured as science and social movement only until 1945. With the advance of both reproductive and enhancement technologies, however, concern has arisen that eugenics has resurfaced in new forms. In particular, the eugenic potential of the Human Genome Project led to talk of the rise of ‘newgenics’ and of a backdoor to eugenics. This article focuses on such concerns deriving from the practice of prenatal screening and technologies that increase our ability to generate information about the kinds of children we are likely to have. Given individual preferences and social norms concerning what traits are intergenerationally desirable, how should we act and what practices and policies should we endorse or scrutinise? This article will concentrate on key components of eugenic thinking present today and emphasise continuities between the eugenic past and newgenic present in the subhumanisation of people with cognitive or intellectual disabilities.

Key Concepts

Eugenics persists in contemporary work on reproductive technologies and disability.

Eugenics aims to improve human populations over generational time.

By focusing on the idea of eugenic logic, we can explore contemporary forms of eugenics.

The eugenic subhumanization of people with disabilities persists in current bioethics.

The endorsement by philosophers of liberal eugenics deserves more critical attention.
Endocannabinoid System: An Update
Authors: Battista Natalia , Maccarrone Mauro , Bari Monica 
Published: September 2017

Abstract

The endocannabinoid system (ECS) is nowadays considered as an important neurotransmitter system and, although the chemistry, biochemistry and pharmacology of endocannabinoids (eCBs) have been widely investigated, quite some pieces are still missing to fully understand how this system works. The discovery of anandamide (AEA) and 2‐arachidonoylglycerol (2‐AG) dates back to the beginning of 1990 and, since then, their molecular targets, biosynthetic and catabolic enzymes have been identified. In addition, selective pharmacological and genetic tools have been developed both to explore alternative metabolic routes and to produce eCB‐based drugs as therapeutics for the prevention/treatment of a variety of diseases.
In this article, we will review the metabolic pathways of eCBs, and the latest advances on their potential receptor targets.

Key Concepts

The endocannabinoid system is an endogenous network including endocannabinoids, a complex array of receptors, biosynthetic and hydrolytic enzymes, as well as membrane transporters.

Endocannabinoids are derivatives of the arachidonic acid.

The two most important endocannabinoid transmitters, anandamide and 2‐arachidonoylglycerol, are produced and eliminated through several enzyme pathways.

Endocannabinoids play their main roles by targeting both cannabinoid and other membrane and nuclear receptors.

The binding of endocannabinoids to cannabinoid, vanilloid and peroxisome proliferator‐activated receptors triggers several signal transduction pathways.

The endocannabinoid system is a pleiotropic signalling system that is widely distributed in the central and peripheral nervous systems.

Alterations of circulating endocannabinoids levels are involved in the dysregulation of activity of important physiological systems.

A deep knowledge of the endocannabinoid system signalling might be translated into the development of pathway‐selective drugs for therapeutic benefit.
Genetics of Isolated Hereditary Nail Disorder
Authors: Basit Sulman 
Published: September 2017

Abstract

Recent advances in molecular genetics and emergence of next‐generation genomic tools have led to the identification of many genes expressed in nail matrix/bed. However, the precise roles of these genes in the nail development and regeneration have not completely been disclosed. Using the methods of forward genetics, a series of genes responsible for hereditary nail disorders have recently been identified. Furthermore, expression and functional analyses have gradually revealed that these genes are directly or indirectly related with each other. This article briefly discusses the clinical and genetic perspective on defining and classifying isolated hereditary nail disorders and the overlapping genetic pathways. The journey towards unravelling the molecular basis of hereditary nail disorders will contribute to better understanding of the complex mechanisms for nail morphogenesis and development in humans.

Key Concepts

Genetic and non‐genetic factors contribute to nail diseases.

Hereditary nail disorders may exist as an isolated entity or associated with other diseases.

Underlying genes in nail disorders and signalling pathways in nail development can provide a logical basis for the classification of genetic disorders of nail.

To date, mutations in five genes have been identified as a cause of isolated hereditary nail disorders.

Development of nail unit requires epithelial–mesenchymal interactions.

Wnt signalling pathway is crucial for maintaining epithelial–mesenchymal interaction.

Lipid biosynthesis is required for the development and maintenance of proper nail structure.
RAGE
– The Receptor of Advanced Glycation End Products
Authors: Rojas Armando , Morales Miguel A , Araya Paulina , González Ileana 
Published: September 2017

Abstract

The receptor of advanced glycation end products (RAGE) is a multi‐ligand binding protein that was initially described as an AGEs‐binding protein. Other proteins, some of them classified as danger signals or alarmins have been described as RAGE ligands. Of note, RAGE shares some of its ligands with some member of the Toll‐like receptor family. Once RAGE is engaged by any of its ligands, the receptor is able to trigger robust pro‐inflammatory cellular responses. At present, RAGE has emerged as a relevant actor in the onset and development of chronic inflammation, which underlies many human diseases.

Key Concepts

The receptor of advanced glycation end products is a multi‐ligand receptor.

RAGE variants are mainly originated by alternative splicing or proteolytic cleavage.

RAGE and TLRs share common ligands and signalling pathways.

RAGE activation is associated with activation of pro‐inflammatory signalling.

RAGE activation by AGEs play a key a role in the development and progression of diabetic nephropathy.

Most of the misfolded proteins linked to neurodegeneration act as RAGE ligands.

RAGE activation plays a key role in the disturbance of endothelial functions and cardiovascular homeostasis.

RAGE has been regarded as the bridge association between chronic inflammation and cancer.

RAGE activation in tumour cells promotes proliferation, invasion, angiogenesis and metastasis.
The Evolution of Ownership Acceptance
Authors: Sherratt Thomas N , Mesterton‐Gibbons Mike 
Published: September 2017

Abstract

Respect for ownership is widespread in the animal kingdom. Thus, the first individuals to find resources are frequently unchallenged by potential competitors and tend to win contests when disputes arise. Game theory has shown that ownership acceptance can arise as an arbitrary convention to avoid costly disputes, even when there are small differences in the value of the resource to individuals or in their fighting ability. However, if possessors make significant non‐transferable investments in resources, then possessors will also be more motivated to retain them. Similarly, if fighting ability affects fighting outcome and can be reliably assessed, then alternative conventions in which poor fighters concede to good fighters are also favoured. Both sources of asymmetry can ultimately reinforce the ownership advantage and broaden the conditions under which owners remain unchallenged. So, respect for possession readily evolves to avoid costly disputes and is especially favoured when possession reflects an underlying asymmetry.

Key Concepts

Respect for ownership is widespread in the animal kingdom and is maintained without third‐party enforcement.

Classical game‐theory models successfully explain how respect for ownership can evolve as a convention to avoid costly disputes.

Differences in fighting ability and value of resource between individuals help explain why respect for property is typically conditional, such that, for example, larger intruders will occasionally challenge owners.

If owners tend to be better fighters or value the resource more highly, then this asymmetry will further promote recognition of ownership, taking it above and beyond a convention.

As might be expected, the most intense fights between individuals arise when conventional solutions break down – for example, when both individuals believe themselves to be the rightful owner.

Other aspects of ownership, such as inheritance and/or division of property, are amenable to game theoretical analysis, but they have seen much less work.
Characterization of Edge Contact: Atomically Resolved Semiconductor–Metal Lateral Boundary in MoS2
Authors: Kwon Hyeokshin , Lee Kiyoung , Heo Jinseong , Oh Youngtek , Lee Hyangsook , Appalakondaiah Samudrala , Ko Wonhee , Kim Hyo Won , Jung Jin‐Wook , Suh Hwansoo , Min Hongki , Jeon Insu , Hwang Euyheon , Hwang Sungwoo 
Published: September 2017

AbstractDespite recent efforts for the development of transition‐metal‐dichalcogenide‐based high‐performance thin‐film transistors, device performance has not improved much, mainly because of the high contact resistance at the interface between the 2D semiconductor and the metal electrode. Edge contact has been proposed for the fabrication of a high‐quality electrical contact; however, the complete electronic properties for the contact resistance have not been elucidated in detail. Using the scanning tunneling microscopy/spectroscopy and scanning transmission electron microscopy techniques, the edge contact, as well as the lateral boundary between the 2D semiconducting layer and the metalized interfacial layer, are investigated, and their electronic properties and the energy band profile across the boundary are shown. The results demonstrate a possible mechanism for the formation of an ohmic contact in homojunctions of the transition‐metal dichalcogenides semiconductor–metal layers and suggest a new device scheme utilizing the low‐resistance edge contact.
Iron‐Catalyzed C(sp3)−C(sp3) Bond Formation in 3,4‐Dihydro‐1,4‐benzoxazin‐2‐ones
Authors: Dong Jie , Min Wenjian , Li Haitao , Quan Zhengjun , Yang Caixia , Huo Congde 
Published: September 2017

AbstractA convenient iron‐catalyzed oxidative dehydrogenative coupling reaction of 3,4‐Dihydro‐1,4‐benzoxazin‐2‐ones with malonic esters or ketones was performed under mild reaction conditions to construct alkyl–alkyl C(sp3)−C(sp3) bonds. This transformation can be catalyzed efficiently by magnetically recoverable iron nanoparticles and the catalyst can be recycled easily for 7 times without decreasing activity.magnified image
The economic impacts of agricultural cooperatives on smallholder farmers in rural China
Authors: Ma Wanglin , Abdulai Awudu 
Published: September 2017

AbstractThis paper examines the impacts of agricultural cooperative membership on output price, gross income, farm profit, and return on investment (ROI) utilizing a recent household survey data of 481 apple producers in China. We employ a treatment effects model to account for potential selection bias that arises from the fact that cooperative members and nonmembers are systematically different in terms of both observable and unobservable factors. Our analysis reveals that cooperative membership has a positive and statistically significant impact on apple price, gross income, farm profit, and ROI. In addition, we find that the highest profit effect of cooperative membership does not in fact result in the highest ROI effect of the membership, revealing differences in farm income and profitability of investment. [EconLit citations: C35, D71, Q12, Q13].
We didn't say that: Challenges in the Public Dissemination of a Research Finding with Controversial Implications
Authors: Neal Zachary P. , Neal Jennifer Watling 
Published: September 2017

AbstractIn the March 2014 issue of American Journal of Community Psychology, we published an article that examined the tension between two core values in the field of community psychology: promoting contextual conditions that foster respect for diversity and promoting contextual conditions that foster sense of community. We concluded that processes of social network formation could help explain why diversity and sense of community are seemingly incompatible goals. The study's findings initially disseminated through the usual academic channels, and later through mainstream media outlets. However, they also eventually appeared on blogs and discussion forums devoted to white nationalism. The findings were viewed there as having demonstrated the evils of diversity, and thus having vindicated the white nationalist agenda. As a result, we were forced to consider whether and how to set the record straight. In this first‐person narrative, we describe our study's journey from AJCP to white nationalist blogs, discussing how we ultimately responded to the situation, and concluding with some lessons learned.
A clinically meaningful fetal hemoglobin threshold for children with sickle cell anemia during hydroxyurea therapy
Authors: Estepp Jeremie H. , Smeltzer Matthew P. , Kang Guolian , Li Chen , Wang Winfred C. , Abrams Christina , Aygun Banu , Ware Russell E. , Nottage Kerri , Hankins Jane S. 
Published: September 2017

AbstractHydroxyurea has proven clinical benefits and is recommended to be offered to all children with sickle cell anemia (SCA), but the optimal dosing regimen remains controversial. Induction of red blood cell fetal hemoglobin (HbF) by hydroxyurea appears to be dose‐dependent. However, it is unknown whether maximizing HbF% improves clinical outcomes. HUSTLE (NCT00305175) is a prospective observational study with a primary goal of describing the long‐term clinical effects of hydroxyurea escalated to maximal tolerated dose (MTD) in children with SCA. In 230 children, providing 610 patient‐years of follow up, the mean attained HbF% at MTD was >20% for up to 4 years of follow‐up. When HbF% values were ≤20%, children had twice the odds of hospitalization for any reason (P < .0001), including vaso‐occlusive pain (P < .01) and acute chest syndrome (ACS) (P < .01), and more than four times the odds of admission for fever (P < .001). Thirty day readmission rates were not affected by HbF%. Neutropenia (ANC <1000 × 106/L) was rare (2.3% of all laboratory monitoring), transient, and benign. Therefore, attaining HbF >20% was associated with fewer hospitalizations without significant toxicity. These data support the use of hydroxyurea in children, and suggest that the preferred dosing strategy is one that targets a HbF endpoint >20%.
Testing support for the northern and southern dispersal routes out of Africa: an analysis of Levantine and southern Arabian populations
Authors: Vyas Deven N. , Al‐Meeri Ali , Mulligan Connie J. 
Published: September 2017

AbstractObjectivesThe Northern Dispersal Route (NDR) and Southern Dispersal Route (SDR) are hypothesized to have been used by modern humans in the dispersal out of Africa. The NDR follows the Nile into Northeast Africa and crosses the Red Sea into the Levant. The SDR emerges from the Horn of Africa and crosses the Bab el‐Mandeb into southern Arabia. In this study, we analyze genetic data from populations living along the NDR and SDR to test support for each dispersal route.Materials and methodsWe genotyped 90 Yemeni samples on the Affymetrix Human Origins array. We analyzed these data with published data from Levantine and other southern Arabian populations as well as 157 comparative populations for a total sample size of >550,000 genetic variants from >2,000 individuals in >160 populations. We calculated outgroup f3 statistics to test how Levantine and southern Arabian populations relate to African populations living along the NDR and SDR and to other non‐African populations.ResultsWe find that Levantine and southern Arabian populations bear similar genetic relationships to both African and non‐African populations, thus providing no support for the use of one dispersal route over the other.DiscussionOur results are consistent with a history of gene flow between the Levant and southern Arabia. Consideration of genetic, archaeological, and paleoclimate data provide a slight edge for the SDR but, ultimately, more data are needed to definitively identify which dispersal route out of Africa was used.
Semiautomatic extraction of cortical thickness and diaphyseal curvature fromCTscans
Authors: Dupej Ján , Lacoste Jeanson Alizé , Pelikán Josef , Brůžek Jaroslav 
Published: September 2017

AbstractThe understanding of locomotor patterns, activity schemes, and biological variations has been enhanced by the study of the geometrical properties and cortical bone thickness of the long bones measured using CT scan cross‐sections. With the development of scanning procedures, the internal architecture of the long bones can be explored along the entire diaphysis. Recently, several methods that map cortical thickness along the whole femoral diaphysis have been developed. Precise homology is vital for statistical examination of the data; however, the repeatability of these methods is unknown and some do not account for the curvature of the bones. We have designed a semiautomatic workflow that improves the morphometric analysis of cortical thickness, including robust data acquisition with minimal user interaction and considering the bone curvature. The proposed algorithm also performs automatic landmark refinement and rigid registration on the extracted morphometric maps of the cortical thickness. Because our algorithm automatically reslices the diaphysis into 100 cross‐sections along the medial axis and uses an adaptive thresholding method, it is usable on CT scans that contain soft tissues as well as on bones that have not been oriented specifically prior to scanning. Our approach exhibits considerable robustness to error in user‐supplied landmarks, suppresses distortion caused by the curvature of the bones, and calculates the curvature of the medial axis.
Regioselective Intermolecular Allylic C−H Amination of Disubstituted Olefins via Rhodium/π‐Allyl Intermediates
Authors: Burman Jacob S. , Blakey Simon B. 
Published: September 2017

AbstractA method for catalytic intermolecular allylic C−H amination of trans‐disubstituted olefins is reported. The reaction is efficient for a range of common nitrogen nucleophiles bearing one electron‐withdrawing group, and proceeds under mild reaction conditions. Good levels of regioselectivity are observed for a wide range of electronically diverse trans‐β‐alkyl styrene substrates.
Merging [2+2] Cycloaddition with Radical 1,4‐Addition: Metal‐Free Access to Functionalized Cyclobuta[a]naphthalen‐4‐ols
Authors: Liu Feng , Wang Jia‐Yin , Zhou Peng , Li Guigen , Hao Wen‐Juan , Tu Shu‐Jiang , Jiang Bo 
Published: September 2017

AbstractA metal‐free [2+2] cycloaddition and 1,4‐addition sequence induced by S‐centered radicals has been achieved by treating benzene‐linked allene‐ynes with aryldiazonium tetrafluoroborates and DABCO‐bis(sulfur dioxide) in a one‐pot procedure. The reaction provides a greener and more practical access to functionalized cyclobuta[a]naphthalen‐4‐ols with valuable applications. More than 50 examples are demonstrated with excellent diastereoselectivity and chemical yields. The reaction pathway is proposed to proceed by the following steps:[2+2] cycloaddition, insertion of SO2, 1,4‐addition, diazotization, and tautomerization.
A Freestanding Selenium Disulfide Cathode Based on Cobalt Disulfide‐Decorated Multichannel Carbon Fibers with Enhanced Lithium Storage Performance
Authors: Zhang Jintao , Li Zhen , Lou Xiong Wen (David) 
Published: September 2017

AbstractSeS2 shows attractive advantages beyond bare S and Se as a cathode material for lithium storage. Here, a freestanding lotus root‐like carbon fiber network decorated with CoS2 nanoparticles (denoted as CoS2@LRC) has been designed and prepared as the SeS2 host for enhancing the lithium storage performance. The integrated electrode is constructed by three‐dimensional interconnected multichannel carbon fibers, which can not only accommodate high content of SeS2 (70 wt %), but also promise excellent electron and ion transport for achieving high capacity utilization of 1015 mAh g−1 at 0.2 A g−1. What is more, there are numerous CoS2 nanoparticles decorated all over the inner walls and surfaces of the carbon fibers, providing efficient sulfiphilic sites for restricting the dissolution of polysulfides and polyselenides during the electrochemical processes, thus successfully suppressing the shuttle effect and maintaining excellent cycling stability over 400 cycles at 0.5 A g−1.
Nanobodys: Strategien zur chemischen Funktionalisierung und intrazelluläre Anwendungen
Authors: Schumacher Dominik , Helma Jonas , Schneider Anselm F. L. , Leonhardt Heinrich , Hackenberger Christian P. R. 
Published: September 2017

AbstractNanobodys sind ein modernes Mittel zur Erkennung und Modulation von Antigenen, die für herkömmliche Antikörper unzugänglich sind. Aufgrund ihrer kompakten Form und ihrer hohen Stabilität werden sie häufig in der Grundlagenforschung verwendet. In diesem Aufsatz werden zentrale Aspekte der Funktionalisierung von Nanobodys nebst ausgewählten Anwendungen in der Molekularbiologie dargestellt. Während ältere Konjugationsstrategien auf der zufälligen Modifikation natürlicher Aminosäuren beruhen, basieren neuere Methoden auf ortsspezifischer Modifikation mit funktionellen Einheiten. Solche Techniken umfassen chemoenzymatische Ansätze, Ligation exprimierter Proteine und die Unterdrückung des Amber‐Codons in Kombination mit bioorthogonalen Modifikationsstrategien. Mit einer ständig wachsenden Auswahl an Methoden aus der Proteinsynthese und ‐konjugation sind auch die Anwendungen auf dem Vormarsch. Diese reichen von hochentwickelter Bildgebung und Massenspektrometrie bis hin zum Einschleusen von Nanobodys in lebende Zellen, um intrazelluläre Antigene zu visualisieren und zu manipulieren.