bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variants in nuclear factor I genes influence growth and development
Authors: Zenker Martin , Bunt Jens , Schanze Ina , Schanze Denny , Piper Michael , Priolo Manuela , Gerkes Erica H. , Gronostajski Richard M. , Richards Linda J. , Vogt Julie , Wessels Marja W. , Hennekam Raoul C. 
Published: November 2019

AbstractThe nuclear factor one (NFI) site‐specific DNA‐binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain. During brain development in mice, the expression patterns of Nfia, Nfib, and Nfix overlap, and knockout mice for each of these exhibit overlapping brain defects, including megalencephaly, dysgenesis of the corpus callosum, and enlarged ventricles, which implies a common but not redundant function in brain development. In line with these models, human phenotypes caused by haploinsufficiency of NFIA, NFIB, and NFIX display significant overlap, sharing neurodevelopmental deficits, macrocephaly, brain anomalies, and variable somatic overgrowth. Other anomalies may be present depending on the NFI gene involved. The possibility of variants in NFI genes should therefore be considered in individuals with intellectual disability and brain overgrowth, with individual NFI‐related conditions being differentiated from one another by additional signs and symptoms. The exception is provided by specific NFIX variants that act in a dominant negative manner, as these cause a recognizable entity with more severe cognitive impairment and marked bone dysplasia, Marshall–Smith syndrome. NFIX duplications are associated with a phenotype opposite to that of haploinsufficiency, characterized by short stature, small head circumference, and delayed bone age. The spectrum of NFI‐related disorders will likely be further expanded, as larger cohorts are assessed.
Stimuliresponsive, auf Biomolekülen basierende Hydrogele und ihre Anwendungen
Authors: Vázquez‐González Margarita , Willner Itamar 
Published: November 2019

AbstractDieser Aufsatz präsentiert Poly‐ und Oligosaccharide, Nucleinsäuren, Peptide und Proteine als funktionelle stimuliresponsive Polymergerüste, die zu Hydrogelen mit gesteuerter Steifigkeit führen. Verschiedene physikalische oder chemische Auslöser werden genutzt, um die Vernetzungseinheiten strukturell zu rekonfigurieren und die Steifigkeit der Hydrogele zu steuern. Durch die Einbindung stimuliresponsiver supramolekularer Komplexe und stimuliresponsiver biomolekularer Einheiten als Vernetzungselemente werden Hybridhydrogele erhalten, die reversible, induzierte Übergänge zwischen unterschiedlichen Steifigkeitszuständen durchlaufen. Die Anwendungen stimuliresponsiver Biomolekül‐basierter Hydrogele werden erörtert. Der Aufbau stimuliresponsiver Biomolekül‐basierter Hydrogelfilme auf Oberflächen und ihre Anwendungen werden ebenfalls behandelt. Außerdem wird die Beschichtung wirkstoffbeladener Nanopartikel mit stimuliresponsiven Hydrogelen für die kontrollierte Wirkstofffreisetzung besprochen.
Funktionelle Nukleinsäure‐Nanomaterialien: Entwicklung, Eigenschaften und Anwendungen
Authors: Xu Wentao , He Wanchong , Du Zaihui , Zhu Liye , Huang Kunlun , Lu Yi , Luo Yunbo 
Published: November 2019

AbstractDie Nanotechnologie funktioneller Nukleinsäuren (FNAs) ist ein interdisziplinäres Gebiet, das sich auf die Untersuchung der Wechselwirkungen zwischen FNAs und Nanomaterialien konzentriert und die speziellen Vorteile und Anwendungen von FNA‐Nanomaterialien erforscht. Mit dem Ziel, Biomaterialen der nächsten Generation aufzubauen, die die Vorteile von FNAs und Nanomaterialien kombinieren, haben sich die Wechselwirkungen zwischen FNAs und Nanomaterialien sowie Technologien zur Selbstorganisation von FNAs als wichtige Forschungsgebiete etabliert. Es besteht die Aussicht, dass Targeterkennung, Responsivität und Selbstorganisationsfähigkeit in Kombination mit plasmonischen Eigenschaften, Stabilität, Stimuliresponsivität und Transportfähigkeit verschiedener Nanomaterialien eine Vielzahl an neuartigen faszinierenden Anwendungen erschließen können. Die Forschungen an den strukturellen und funktionellen Eigenschaften von FNAs schreiten rasch voran, und viele Laboratorien haben über zahlreiche Methoden zur Herstellung von FNA‐Nanomaterialien berichtet. In diesem Aufsatz stellen wir zunächst einige weit verbreitete FNAs und Nanomaterialien vor, einschließlich ihrer Klassifizierung, Struktur und Anwendungen, und erläutern die erfolgreichsten Methoden zur Herstellung hochentwickelter FNA‐Nanomaterialien. Des Weiteren diskutieren wir die umfangreichen Anwendungen von FNA‐Nanomaterialien in den Bereichen Bioimaging, Biosensorik und Biomedizin und erläutern unsere Sichtweise der verbliebenen Herausforderungen und Entwicklungstrends.
Catalytic Stereoselective Borylative Transannular Reactions
Authors: Sendra Jana , Manzano Ruben , Reyes Efraim , Vicario Jose L. , Fernández Elena 
Published: November 2019

AbstractMedium‐sized carbocycles containing an α,β‐unsaturated ketone moiety as Michael acceptor site and a ketone moiety as internal electrophilic site are ideal substrates to conduct Cu(I)‐catalyzed conjugated borylation followed by electrophilic intramolecular trapping that results into a pioneer transannular borylative ring closing reaction. The relative configuration of three adjacent stereocenters is controlled, giving access to a single diastereoisomer for a wide range of substrates tested. Moreover, when a chiral ligand is incorporated, the reaction provides enantioenriched polycyclic products with up to 99 % ee.
Nickelaelektro‐katalysierte C‐H‐Alkoxylierung mit sekundären Alkoholen: oxidationsinduzierte reduktive Eliminierung an Nickel(III)
Authors: Zhang Shou‐Kun , Struwe Julia , Hu Lianrui , Ackermann Lutz 
Published: November 2019

AbstractVollständig dehydrierende C‐H‐Alkoxylierungen mit anspruchsvollen sekundären Alkoholen wurden durch oxidative Nickelelektrokatalyse ohne den Einsatz eines stöchiometrischen Oxidationsmittels mit H2 als einzigem Nebenprodukt ermöglicht. Die Nickelaelektro‐katalysierte Oxygenierung konnte mit verschiedenen (Hetero‐)Arenen und unter anderem mit natürlich vorkommenden sekundären Alkoholen ohne Auftreten einer Racemisierung durchführt werden. Detaillierte mechanistische Studien, darunter DFT‐Rechnungen und cyclovoltammetrische Analyse an einem definierten, C‐H‐aktivierten Nickel(III)‐Intermediat, lassen auf eine oxidationsinduzierte reduktive Eliminierung an Nickel(III) schließen.
Functional Nucleic Acid Nanomaterials: Development, Properties, and Applications
Authors: Xu Wentao , He Wanchong , Du Zaihui , Zhu Liye , Huang Kunlun , Lu Yi , Luo Yunbo 
Published: November 2019

AbstractFunctional nucleic acid (FNA) nanotechnology is an interdisciplinary field between nucleic acid biochemistry and nanotechnology that focuses on the study of interactions between FNAs and nanomaterials and explores the particular advantages and applications of FNA nanomaterials. With the goal of building the next‐generation biomaterials that combine the advantages of FNAs and nanomaterials, the interactions between FNAs and nanomaterials as well as FNA self‐assembly technologies have established themselves as hot research areas, where the target recognition, response, and self‐assembly ability, combined with the plasmon properties, stability, stimuli‐response, and delivery potential of various nanomaterials can give rise to a variety of novel fascinating applications. As research on the structural and functional group features of FNAs and nanomaterials rapidly develops, many laboratories have reported numerous methods to construct FNA nanomaterials. In this Review, we first introduce some widely used FNAs and nanomaterials along with their classification, structure, and application features. Then we discuss the most successful methods employing FNAs and nanomaterials as elements for creating advanced FNA nanomaterials. Finally, we review the extensive applications of FNA nanomaterials in bioimaging, biosensing, biomedicine, and other important fields, with their own advantages and drawbacks, and provide our perspective about the issues and developing trends in FNA nanotechnology.
Stereospecific and Chemoselective Copper‐Catalyzed Deaminative Silylation of Benzylic Ammonium Triflates
Authors: Scharfbier Jonas , Gross Benjamin M. , Oestreich Martin 
Published: November 2019

AbstractA method for the synthesis of benzylsilanes starting from the corresponding ammonium triflates is reported. Silyl boronic esters are employed as silicon pronucleophiles, and the reaction is catalyzed by copper(I) salts. Enantioenriched benzylic ammonium salts react stereospecifically through an SN2‐type displacement of the ammonium group to afford α‐chiral silanes with inversion of the configuration. A cyclopropyl‐substituted substrate does not undergo ring opening, thus suggesting an ionic reaction mechanism with no benzyl radical intermediate.
Non‐indigenous fish in protected spaces: Trends in species distribution mediated by illegal stocking
Authors: Fernández Sara , Arboleya Elena , Dopico Eduardo , Ardura Alba , Garcia‐Vazquez Eva 
Published: November 2019

Abstract

Many freshwater non‐indigenous species (NISs) are stocked for recreational fishing, in some cases illegally in protected areas. In this study, fish communities were monitored using environmental DNA, electrofishing and anglers’ catches as the sources of samples in a mountainous Biosphere Reserve in Asturias (northern Spain), where stocking is forbidden.
Three NISs have been introduced illegally in the protected area and have shown increasing populations in the last two decades. Two species used as fishing bait, Squalius carolitertii (chub) and Phoxinus phoxinus (minnow), are expanding in running waters. Oncorhynchus mykiss (rainbow trout) was also detected and is likely to have been introduced for angling or from fish farm escapes.
The results suggest that sustained illegal stocking contributed to the increase of the three NISs. In contrast, Salmo trutta (brown trout) of northern European lineages, identified from *90 alleles at the LDH‐C1 locus, and formerly legally stocked for angling, is decreasing, most likely as a result of climate change. Climate change could also contribute to the expansion of the two non‐indigenous cyprinids to colder upstream areas.
Through the application of a social survey, it was found that unlike other population groups, anglers in the region significantly preferred stocking over environmental improvement for the management of fish populations. The results obtained suggest that raising the awareness of anglers about the importance of safeguarding native fish species could help to prevent the spread of NISs in protected areas.
Interleukin‐17 Inhibition in Spondyloarthritis Is Associated With Subclinical Gut Microbiome Perturbations and a Distinctive Interleukin‐25–Driven Intestinal Inflammation
Authors: Manasson Julia , Wallach David S. , Guggino Giuliana , Stapylton Matthew , Badri Michelle H. , Solomon Gary , Reddy Soumya M. , Coras Roxana , Aksenov Alexander A. , Jones Drew R. , Girija Parvathy V. , Neimann Andrea L. , Heguy Adriana , Segal Leopoldo N. , Dorrestein Pieter C. , Bonneau Richard , Guma Monica , Ciccia Francesco , Ubeda Carles , Clemente Jose C. , Scher Jose U. 
Published: November 2019

ObjectiveTo characterize the ecological effects of biologic therapies on the gut bacterial and fungal microbiome in psoriatic arthritis (PsA)/spondyloarthritis (SpA) patients.MethodsFecal samples from PsA/SpA patients pre‐ and posttreatment with tumor necrosis factor inhibitors (TNFi; n = 15) or an anti–interleukin‐17A monoclonal antibody inhibitor (IL‐17i; n = 14) underwent sequencing (16S ribosomal RNA, internal transcribed spacer and shotgun metagenomics) and computational microbiome analysis. Fecal levels of fatty acid metabolites and cytokines/proteins implicated in PsA/SpA pathogenesis or intestinal inflammation were correlated with sequence data. Additionally, ileal biopsies obtained from SpA patients who developed clinically overt Crohn's disease (CD) after treatment with IL‐17i (n = 5) were analyzed for expression of IL‐23/Th17–related cytokines, IL‐25/IL‐17E–producing cells, and type 2 innate lymphoid cells (ILC2s).ResultsThere were significant shifts in abundance of specific taxa after treatment with IL‐17i compared to TNFi, particularly Clostridiales (P = 0.016) and Candida albicans (P = 0.041). These subclinical alterations correlated with changes in bacterial community co‐occurrence, metabolic pathways, IL‐23/Th17–related cytokines, and various fatty acids. Ileal biopsies showed that clinically overt CD was associated with expansion of IL‐25/IL‐17E–producing tuft cells and ILC2s (P < 0.05), compared to pre–IL‐17i treatment levels.ConclusionIn a subgroup of SpA patients, the initiation of IL‐17A blockade correlated with features of subclinical gut inflammation and intestinal dysbiosis of certain bacterial and fungal taxa, most notably C albicans. Further, IL‐17i–related CD was associated with overexpression of IL‐25/IL‐17E–producing tuft cells and ILC2s. These results may help to explain the potential link between inhibition of a specific IL‐17 pathway and the (sub)clinical gut inflammation observed in SpA.
Specific Functional Connectivity Patterns of Middle Temporal Gyrus Subregions in Children and Adults with Autism Spectrum Disorder
Authors: Xu Jinping , Wang Chao , Xu Ziyun , Li Tian , Chen Fangfang , Chen Kai , Gao Jingjing , Wang Jiaojian , Hu Qingmao 
Published: November 2019

As one of the key regions in the “social brain” network, the middle temporal gyrus (MTG) has been widely reported to be associated with autism spectrum disorder (ASD), but there have been contradictory results in terms of whether it shows hyperconnectivity or hypoconnectivity. Delineating roles of MTG at the subregional level may eliminate the observed inconsistencies and provide a new avenue to reveal the neurophysiologic mechanism of ASD. Thus, we first performed connectivity‐based parcellation using the BrainMap database to identify fine‐grained functional topography of the MTG. Then, the MTG subregions were used to investigate differences in the functional connectivity in children and adults with ASD using two data sets from Autism Brain Imaging Data Exchange database. Four distinct subregions in the human left and right MTG were identified, including the anterior MTG (aMTG), middle‐anterior MTG (maMTG), middle‐posterior MTG, and posterior MTG (pMTG). The bilateral pMTG was more vulnerable in both children and adults with ASD than in the typically developing (TD) group, mainly showing hypoconnectivity with different brain regions. In addition, the bilateral aMTG and right maMTG also showed altered functional connectivity in adults with ASD compared to the TD group. Moreover, all these altered MTG subregions were mainly associated with social cognition and language, as revealed by functional characterization. Further correlation analyses also showed trends of association between altered connectivity of the left aMTG and the Autism Diagnostic Observation Schedule scores in adults with ASD. Together, these results suggest a potential objective way to explore sub‐regional differences associated with such disorders. Autism Res 2020, 13: 410–422. © 2019 International Society for Autism Research, Wiley Periodicals, Inc.Lay SummaryFour distinct subregions in the human left and right middle temporal gyrus (MTG) were identified, including the anterior MTG (aMTG), middle‐anterior MTG (maMTG), middle‐posterior MTG, and posterior MTG (pMTG). The bilateral pMTG was more vulnerable in both children and adults with autism spectrum disorder (ASD) than in the typically developing (TD) group, mainly showing hypoconnectivity with different brain regions. In addition, the bilateral aMTG and right maMTG also showed altered functional connectivity in adults with ASD compared to the TD group. Moreover, all these altered MTG subregions were mainly associated with social cognition and language, as revealed by functional characterization. Further correlation analyses also showed trends of association between altered connectivity of the left aMTG and the Autism Diagnostic Observation Schedule scores in adults with ASD.
Optimierung des Baumanagements im Untertagebau mittels digitaler Infrastruktur‐Informationsmodelle
Authors: Flora Matthias , Fröch Georg , Gächter Werner 
Published: November 2019

AbstractDie bisherigen Anwendungen neuer digitaler Methoden (BIM) im Infrastrukturbau lassen die Erkenntnis reifen, dass ein reines Bauwerksmodell für die ambitionierten Ziele eines optimierten Planungsprozesses und in weiterer Folge einer optimierten Bauabwicklung nicht ausreichend ist. Es bedarf zweier zusätzlicher Modellierungen: jener des Baugrunds und jener der Baustelle. Im Infrastruktur‐ und vor allem Untertagebau sind der Baugrund und dessen Interaktion mit dem Bauwerk von enormer Bedeutung. Deshalb gilt es diesen anhand eines Baugrundmodells entsprechend abzubilden und damit dem Idealfall eines digitalen Zwillings gerecht zu werden. Die Modellierung des Baugrunds geht über eine rein dreidimensionale geometrische Darstellung hinaus und hat der BIM‐Methode zu folgen, nämlich Volumenkörpern Informationen und Merkmale zuzuweisen. Darüber hinaus zeigen laufende internationale Großprojekte deutlich, dass die Optimierung baubetrieblicher Aspekte, eine sorgfältige Planung der Baustelleneinrichtung und eine konsequente Auslegung der Logistik eine maßgebliche Rolle für die Produktionsleistung der Vortriebe und damit für eine erhöhte Kosten‐ und Terminsicherheit einnehmen. Deshalb wird von den Autoren in diesem Beitrag die Einführung eines Infrastruktur‐Informationsmodells vorgestellt, welches die drei Teilmodelle Baugrund, Bauwerk und Baustelle beinhaltet. Dabei wird der Schwerpunkt exemplarisch auf den Hohlraumbau, genauer auf den maschinellen Tunnelvortrieb, gelegt.
Risk of second primary malignancies after definitive treatment for esophageal cancer: A competing risk analysis
Authors: Mitani Seiichiro , Kadowaki Shigenori , Oze Isao , Masuishi Toshiki , Narita Yukiya , Bando Hideaki , Oonishi Sachiyo , Hirayama Yutaka , Tanaka Tsutomu , Tajika Masahiro , Koide Yutaro , Kodaira Takeshi , Abe Tetsuya , Muro Kei 
Published: November 2019

AbstractBackgroundEsophageal cancer is associated with synchronous or metachronous cancer at other primary sites. However, few studies have evaluated the second malignancies after the treatment of esophageal cancer. The present study aimed to clarify the frequency of and risk factors for the second malignancies after definitive therapy for esophageal cancer.Patients and MethodsWe included patients with esophageal cancer who received definitive therapy between 2000 and 2010. Exclusion criteria were synchronous cancer or a past history of cancer. Standardized incidence rate (SIR) was calculated using age‐ and sex‐specific incidence rates from the cancer registry data. To conduct risk analyses, we used the competing risk regression model, which defined death and the development of second malignancies as competing risks.ResultsA total of 758 patients were included, with 131 second malignancies occurring in 106 patients (14%), over a median follow‐up of 3.7 years. Cumulative incidences of second malignancies after 3, 5, and 8 years were 4.0%, 7.6%, and 13.8%, respectively. The risk of second malignancy was significantly elevated [SIR = 1.83, 95% confidence interval (CI): 1.50‐2.22]. The most common sites of primary tumor were the head and neck (20%), followed by the lung (17%), stomach (16%), colon and rectum (11%), and urinary tract (9%). Risk analyses revealed that age ≥ 65 years [subdistribution hazard ratio (sHR): 1.51, 95% CI: 1.01‐2.24, vs age < 65] and clinical stages 0‐I (sHR: 2.48, 95% CI: 1.46‐4.22, vs stage III and IV) and II (sHR: 2.10, 95% CI: 1.23‐3.58, vs stage III and IV) were significantly associated with second malignancies.ConclusionsCompared with the general population, an increased incidence of second malignancies was observed in the patients with esophageal cancer in the present study even after definitive treatment. Careful follow‐up is required, especially in patients at a higher risk of second malignancies.
C‐MET–dependent signal transduction mediates retinoblastoma growth by regulating PKM2 nuclear translocation
Authors: Dai Hanjun , Zeng Weijuan , Luo Hong 
Published: November 2019

Mesenchymal epithelial transition (C‐MET) factor overexpression has been found in many types of cancer and has served as an important molecular target for therapeutic intervention. However, the role of C‐MET in retinoblastoma remains largely unclear. The present study aimed to investigate the potential role and mechanism of C‐MET in Y79 retinoblastoma cells. We found that C‐MET was highly expressed in Y79 retinoblastoma cells, and, in addition, the levels of C‐MET were positively correlated with cell proliferation and retinoblastoma growth. Inhibition of C‐MET suppressed Y79 retinoblastoma cell proliferation and tumour growth. Mechanistically, we showed that HGF‐induced C‐MET–dependent signal transduction resulted in ERK 1/2 phosphorylation, which subsequently promoted the nuclear translocation of PKM2. Nuclear PKM2 further interacted with histone H3 and contributed to C‐MET–dependent cyclin D1 and c‐Myc expression and cell proliferation. These findings highlight the role of C‐MET in Y79 retinoblastoma cells and reveal a C‐MET–dependent signal transduction mechanism. C‐MET may be a potential therapeutic target for retinoblastoma.Significance of the studyWe demonstrated a new target of retinoblastoma, C‐MET. C‐MET–dependent signal transduction promotes Y79 retinoblastoma cell proliferation and tumour growth through ERK 1/2/PKM2/histone H3 signalling pathway. C‐MET may be a potential target for retinoblastoma therapy.