bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
Authors: Villela Darine , Mazzonetto Patricia C. , Migliavacca Michele P. , Perrone Eduardo , Guida Gustavo , Milanezi Maria Fernanda G. , Jorge Alexander A. L. , Ribeiro‐Bicudo Lucilene A. , Kok Fernando , Campagnari Francine , de Rosso‐Giuliani Liane , da Costa Silvia Souza , Vianna‐Morgante Angela M. , Pearson Peter L. , Krepischi Ana C. V. , Rosenberg Carla 
Published: May 2021

AbstractChromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first‐tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 15 years, we performed CMA in approximately 8,000 patients with neurodevelopmental and/or congenital disorders, of which 13 (0.16%) genetically catastrophic complex chromosomal rearrangements were identified. These ultrarare rearrangements showed clustering of breakpoints, characteristic of chromoanagenesis events. Al1 13 complex events display underlying formation mechanisms, originating either by a synchronization of the shattering of clustered chromosome regions in which regional asynchrony of DNA replication may be one of the main causes of disruption. We provide an overview of the copy number profiling in these patients. Although several previous studies have suggested that chromoanagenesis is often a genetic disease source in postnatal diagnostic screening, due to either the challenge of clinical interpretation of these complex rearrangements or the limitation of microarray resolution relative to the small size and complexity of chromogenic induced chromosome abnormalities, bringing further attention and to study its occurrence in the clinical setting is extremely important.
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome
Authors: Postma Julianne K. , Altamirano‐Diaz Luis , Rupar C. Anthony , Siu Victoria M. 
Published: May 2021

AbstractNeonatal Marfan syndrome is a severe, early onset presentation of pathogenic variants in FBN1. Because of the significant cardiac involvement and early mortality, nearly all reported cases have been de novo, and the disorder has not been documented to be inherited from a symptomatic parent. Here, we present a female infant with neonatal Marfan syndrome who was born to a father with Marfan syndrome. Prior to the birth of his daughter, the father had been found to have an FBN1 missense variant of uncertain clinical significance. Initial familial variant testing of the infant did not reveal the same missense variant, but Sanger sequencing of FBN1 subsequently identified a pathogenic splice site variant. The father was then found to have 10%–20% mosaicism for the same splice site variant.
Organophotoredox‐Catalyzed Late‐Stage Functionalization of Heterocycles
Authors: Kumar Hota Sudhir , Jinan Dilsha , Prakash Panda Satya , Pan Rittwika , Sahoo Basudev , Murarka Sandip 
Published: May 2021

AbstractIn the last decade, visible light photoredox catalysis promoting radical‐based organic transformations has received enormous synthetic applicability, as they allow unfolding of site‐selective reactivities under mild reaction conditions. Moreover, the photoredox transformations utilizing organic dyes as photocatalysts are attractive with regard to low cost, less toxicity, easy availability and high functional group tolerance. The organophotoredox‐catalyzed reaction technologies enabling direct, efficient and selective late‐stage functionalization of various heterocycles leading to the formation of various C−C and C−X (X=N, P, O, S, Se, Br) bonds have emerged at the forefront of synthetic methodologies available to synthetic chemists. This minireview summarizes the developments made in the last five years in the field of late‐stage functionalization of heterocycles governed by various organophotocatalysts and intends to provide the readers a comprehensive overview of this research field with representative examples and mechanistic insights.
Non‐invasive Regulation of Cellular Morphology Using a Photoswitchable Mechanical DNA Polymer
Authors: Sethi Soumya , Hidaka Kumi , Sugiyama Hiroshi , Endo Masayuki 
Published: May 2021

AbstractThe extracellular matrix (ECM) in which the cells reside provides a dynamic and reversible environment. Spatiotemporal cues are essential when cells are undergoing morphogenesis, repair and differentiation. Emulation of such an intricate system with reversible presentation of nanoscale cues can help us better understand cellular processes and can allow the precise manipulation of cell function in vitro. Herein, we formulated a photoswitchable DNA mechanical nanostructure containing azobenzene moieties and dynamically regulated the spatial distance between adhesion peptides using a photoswitchable DNA polymer with photoirradiation. We found that the DNA polymer reversibly forms two different structures, a relaxed linear and shrunken compact form, observed by AFM. Using the mechanical properties of this DNA polymer, UV and visible light irradiation induced a significant morphology change of the cells between a round shape and spindle shape, thus providing a tool to decipher the language of the ECM better.
Der derzeitige Stand von MOF‐ und COF‐Anwendungen
Authors: Freund Ralph , Zaremba Orysia , Arnauts Giel , Ameloot Rob , Skorupskii Grigorii , Dincă Mircea , Bavykina Anastasiya , Gascon Jorge , Ejsmont Aleksander , Goscianska Joanna , Kalmutzki Markus , Lächelt Ulrich , Ploetz Evelyn , Diercks Christian S. , Wuttke Stefan 
Published: May 2021

AbstractDie Verschmelzung verschiedener Disziplinen ist das Herzstück der retikulären Chemie und hat durch die Eröffnung eines unendlichen Raums der chemischen Zusammensetzung, Struktur und Materialeigenschaften die Grenzen der Chemie geweitet. Das retikuläre Design hat die präzise Vorhersage von kristallinen Gerüststrukturen, die Abstimmbarkeit der chemischen Zusammensetzung, den Einbau verschiedener Funktionalitäten in das Gerüstgerüst und als Folge davon die Feinabstimmung der Eigenschaften von Metall‐organischen Gerüsten (MOFs) und kovalenten organischen Gerüsten (COFs) ermöglicht, wie sie von keiner anderen Materialklasse erreicht wird. Die Nutzung der einzigartigen Eigenschaften retikulärer Materialien hat zu bedeutenden Fortschritten aus fundamentaler wie auch aus angewandter Sicht geführt. Hier möchten wir die Meilensteine in der MOF‐ und COF‐Forschung beleuchten und einen kritischen Blick auf die Fortschritte in deren realen Anwendungen geben. Abschließend diskutieren wir kurz die großen Herausforderungen, die angegangen werden müssen, um den Weg für industrielle Anwendungen zu ebnen.
NovelN,N‐dimethylacrylamidecopolymer containing multiple rigid comonomers as a filtrate reducer inwater‐baseddrilling fluids and mechanism study
Authors: Wang Guoshuai , Jiang Guancheng , Yang Jun , Yang Lili , Li Xinliang , He Yinbo , Chang Xiangyang 
Published: May 2021

AbstractUltra‐high temperature dramatically deteriorates rheological properties and filtration performance of water‐based drilling fluids (WBDFs), especially for a salt‐gypsum formation that greatly restricts the application of WBDFs in ultra‐deep well drilling operations. Hence, the research in this article used an anionic copolymer (DANS) prepared byN,N‐dimethylacrylamide, 2‐acrylamide‐2‐methylpropanesulfonic acid,N‐vinylpyrrolidone, and sodium 4‐styrenesulfonate as an anti‐ultra‐high temperature and anti‐salt contamination filtrate reducer. Due to its multiple bulky cyclic structures in the side chain, DANS exhibits excellent thermal stability in the thermal gravimetric, rheological, and filtration tests. By adding 1.0 wt% DANS, the American Petroleum Institute (API) filtration volume of sodium bentonite‐based fluids (SBT‐BFs) decreased from 56.0 to 9.2 ml after aging at 240°C. Even under both 20 wt% NaCl contamination and 240°C aging, SBT‐BFs with 2.0 wt% DANS could maintain a filtration volume of 9.4 ml, whereas SBT‐BFs without DANS reached a filtration volume of 203.0 ml. The possible filtration control mechanism of DANS was further investigated via the Fourier transform infrared spectroscopy (FTIR), atomic force microscopy (AFM), ζ potential, particle size distribution, filter cake micro‐morphology, and transmission electron microscopy (TEM). Confirmed by FTIR and AFM results, the effective adsorption was formed between DANS and bentonite even under a high‐salinity environment. Thus, a firm “dot net” structure formed by bentonite/DANS was observed by TEM, significantly improving the colloidal stability, dispersibility, and filter cake compactness of SBT‐BFs. Finally, by utilizing DANS as the core treatment agent, a high‐density WBDFs system with a temperature resistance of 240°C and a salt‐tolerance of 20 wt% has been successfully prepared.
Insights into an undescribed high‐elevation lake (6,170 m a.s.l.) on Volcán Llullaillaco: A physical and microbiological view
Authors: Aran Pablo , Aguilar Pablo , Bowen Thomas , Farson Matthew , Tapia Joseline , Vimercati Lara , Darcy John L. , Solon Adam J. , Porazinska Dorota , Schmidt Steven K. , Dorador Cristina 
Published: May 2021

Abstract

High elevation lakes are extreme ecosystems and serve as sentinels of various global changes.
An expedition to Volcán Llullaillaco in 1996 discovered an unstudied high‐elevation lake (6,170 m a.s.l.) that probably was formed as a result of the past eruptive events or climatic processes such as glacial retreat in the lake basin.
This article describes an initial physical characterization of the lake and its microbial communities derived from two sampling expeditions in 2013 and 2016.
The microbial community in the lake, with an area between 1.2 and 1.4 ha and a depth of 6.8 m, was dominated by Proteobacteria, Actinobacteria and Haloarchaea. In addition, 26 bacterial isolates were identified within the genera Subtercola, Xylophilus, Rhodanobacter, Mesorhizobium and Pseudomonas.
Lago Llullaillaco is one of the highest recorded lakes in the world, and this study highlights the unique microbial diversity of this aquatic ecosystem and the importance of its preservation to understand the complex biological processes under polyextreme conditions.
The building bridges initiative in health sciences and medical education: Fostering connections between Brazil and the United States
Authors: Curcio Daniella , Laitman Jeffrey T. 
Published: May 2021

AbstractBuilding Bridges is an outreach initiative that has focused upon effectuating increased communication among biomedical scientists, educators, and students in Brazil and the United States—the countries with the greatest number of medical schools in the Americas. It has been a developing project over the last 6 years, and has involved faculty, students, and civic leaders from many universities in the two countries. This Special Issue of The Anatomical Record is a continuation of the Building Bridges initiative, and brings to the fore attention onto some of the creative research being done in biomedical science, evolutionary science, biomedical education, and current health topics in Brazil. Fostering open routes of communication among scientists is a core humanistic value that is at the heart of progress and is the center of our actions. This paper reviews the history of the Building Bridges Initiative.
Identification of osteosarcoma by microRNA‐coupled nuclease digestion on interdigitated electrode sensor
Authors: Yin Guorui , Fu Bing , Xu Bo , Han Jinggang , Xue Yufeng , Chen Hulin , Zhang Xubin , Wang Guixin 
Published: May 2021

AbstractOsteosarcoma is a type of tumor originating from the bone cells, most often from long bones. Children and adolescents are mainly affected by osteosarcoma. Identifying the condition with osteosarcoma is mandatory to provide proper treatment to the affected patients. This research work has introduced an identification of an osteosarcoma biomarker “miRNA‐21” on the interdigitated electrochemical sensor by nuclease digestion. The target RNA sequence of miRNA‐21 was hybridized to the capture DNA and placed on the sensing electrode surface with the aid of the biotin–streptavidin interaction. The unhybridized immobilized single‐standard capture DNA was digested by S1‐nuclease. The current response of the digestion level was considered as the duplex formation between the target and capture DNA. Using this technique, the detection limit of the target was reached to 1 fM and a similar response of current was noted with the target RNA–spiked human serum, indicating the selective identification of target RNA. Further, single mismatched, triple mismatched, and random miRNA sequences (miRNA‐195) failed to interact with the immobilized capture DNA, representing the specific identification of target RNA. This nuclease digestion technique with miRNA‐21 identification helps in detecting osteosarcoma and related issues.
Achieving holistic care for refugees: The experiences of educators and other stakeholders in Surrey and Greater Vancouver, Canada
Authors: Barber Susan 
Published: May 2021

In 2020, the global number of refugees reached record levels, pressuring asylum countries to determine more effective methods for facilitating integration. This article explores an array of stakeholder practices towards refugees in Surrey and Greater Vancouver, Canada. It is based on questionnaires and interviews that elicit the perceptions and struggles of 40 settlement workers, health and mental health professionals, Members of Parliament, educators, librarians, scholars and grassroots organisations, who work with refugees. The findings show that stakeholders often feel isolated, ‘working in silos’ and wasting time and money due to uncoordinated services and a lack of interagency communication. They feel it is also unreasonable to expect Government‐Assisted Refugees (GARs) to learn English and complete job training in preparation for independent living within 1 year of support. Both refugee adults and children suffer from high levels of trauma, often compounded by interrupted or no schooling. Since education is essential to refugee success, I argue that teachers play a role in filling the gap, often uniquely positioned to form ongoing, safe and trusting relationships with refugee students and their families. For many teachers, it is an ethos of care, compassion and social justice acquired in teacher education programmes that increases refugee resilience, sense of belonging and wellbeing. This article identifies what new collaborations between teachers and other stakeholders might accomplish, including communication back to government policymakers. Recommendations encompass initiating online registries of services and low‐cost housing in neighbourhoods where community schools and services are interlinked, possibly achieving holistic care for all refugees.
How do small businesses pursue sustainability? The role of collective agency for integrating planned and emergent strategy making
Authors: Luederitz Christopher , Caniglia Guido , Colbert Barry , Burch Sarah 
Published: May 2021

AbstractResearch on sustainability strategy in large corporations has shown that carefully planned strategies can address environmental and social concerns. However, we still lack clarity on how small businesses form sustainability strategies. Assuming that small businesses can—or should—carefully plan strategies is inappropriate considering that such organizations often lack the needed resources, foresight, and formalized decision‐making structures. Building on the study of two craft breweries in Canada and Germany, we detail how a combination of planned and emergent actions enables owners, employees, and external stakeholders to jointly form strategic sustainability orientation. Developing these findings into an integrated activity‐based model, we show the need to move beyond the dichotomy between planned and emergent strategizing. We contribute a human‐centered perspective to the sustainability strategy literature and suggest that research should take the role of people in small businesses more seriously as here interpersonal relationships and collective agency are central in forming strategic sustainability orientation.
RAG1 co‐expression signature identifies ETV6‐RUNX1‐like B‐cell precursor acute lymphoblastic leukemia in children
Authors: Chen Dongfeng , Camponeschi Alessandro , Nordlund Jessica , Marincevic‐Zuniga Yanara , Abrahamsson Jonas , Lönnerholm Gudmar , Fogelstrand Linda , Mårtensson Inga‐Lill 
Published: May 2021

AbstractB‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) can be classified into subtypes according to the genetic aberrations they display. For instance, the translocation t(12;21)(p13;q22), representing the ETV6‐RUNX1 fusion gene (ER), is present in a quarter of BCP‐ALL cases. However, around 10% of the cases lack classifying chromosomal abnormalities (B‐other). In pediatric ER BCP‐ALL, rearrangement mediated by RAG (recombination‐activating genes) has been proposed as the predominant driver of oncogenic rearrangement. Herein we analyzed almost 1600 pediatric BCP‐ALL samples to determine which subtypes express RAG. We demonstrate that RAG1 mRNA levels are especially high in the ETV6‐RUNX1 (ER) subtype and in a subset of B‐other samples. We also define 31 genes that are co‐expressed with RAG1 (RAG1‐signature) in the ER subtype, a signature that also identifies this subset of B‐other samples. Moreover, this subset also shares leukemia and pro‐B gene expression signatures as well as high levels of the ETV6 target genes (BIRC7, WBP1L, CLIC5, ANGPTL2) with the ER subtype, indicating that these B‐other cases are the recently identified ER‐like subtype. We validated our results in a cohort where ER‐like has been defined, which confirmed expression of the RAG1‐signature in this recently described subtype. Taken together, our results demonstrate that the RAG1‐signature identifies the ER‐like subtype. As there are no definitive genetic markers to identify this novel subtype, the RAG1‐signature represents a means to screen for this leukemia in children.
IBSP, a potential recurrence biomarker, promotes the progression of colorectal cancer via Fyn/β‐catenin signaling pathway
Authors: Chen Yan , Qin Ying , Dai Mengmeng , Liu Liping , Ni Yong , Sun Qinsheng , Li Lulu , Zhou Yaoyao , Qiu Cheng , Jiang Yuyang 
Published: May 2021

AbstractColorectal cancer (CRC) is a frequently occurring digestive system cancer and postoperative tumor metastasis and recurrence are the main reasons for the failure of CRC treatment. The aim of this study was to identifying and validating key genes associated with metastatic recurrence of CRC. RNA expression of three datasets (GSE17538, GSE32323, and GSE29623) was used for biomarker discovery. We identified integrin‐binding sialoprotein (IBSP) as a candidate biomarker which was validated in three clinical cohorts (GSE41258, GSE21510, and GSE39582) and our clinical specimens. The results suggested that IBSP expression significantly increased at mRNA and protein levels among CRC cases, which was associated with metastatic recurrence, metastasis, high risk of recurrence, and poor survival in CRC. Consistent results were obtained in CRC cells. The relative level of serum IBSP evidently increased among CRC patients relative to normal controls, and downregulated after operation. As suggested by gene set enrichment analysis (GSEA), the IBSP level was associated with cell‐matrix adhesion in CRC. Functional experiments in vitro showed that IBSP promoted the growth and aggressiveness of CRC, and the potential mechanism by which IBSP promoted carcinogenesis of CRC was the abnormal activation of Fyn/β‐catenin signaling pathway. To sum up, findings in the present work indicate that IBSP can serve as the candidate biomarker for the diagnosis, treatment, and prognosis of CRC.
Dimeric Acylphloroglucinol Derivatives with New Skeletons from Leptospermum scoparium
Authors: Xia Kai , Gu Ji‐Hong , Fu Xiao‐Xue , Li Ni‐Ping , Chen Mu , Huang Qian , Wang Wen‐Jing , Ye Wen‐Cai , Wang Lei 
Published: May 2021

AbstractLeptosparones A–F (1–6), six new dimeric acylphloroglucinol derivatives with unprecedented skeletons, were isolated from Leptospermum scoparium. Compounds 1–3 and 5–6 are phenylpropanoyl‐phloroglucinol dimers, while 4 is a phenylpropanoylphloroglucinol‐isovalerylphloroglucinol hybrid. Structurally, these compounds represent the first examples of dimeric phloroglucinols with unprecedented C(7′)−C(8) linkage between the phloroglucinol core and the acyl side chain. Their structures were elucidated by comprehensive analyses of spectroscopic data, single crystal X‐ray diffraction and chemical calculations. In addition, all compounds showed inhibitory effects against α‐glucosidase with IC50 values ranging from 39.5 to 186.8 μM.
Versatile Coordination of AgI and CuI Ions towards cyclo‐As5 Ligands
Authors: Moussa Mehdi Elsayed , Fleischmann Martin , Balázs Gábor , Virovets Alexander V. , Peresypkina Eugenia , Shelyganov Pavel A. , Seidl Michael , Reichl Stephan , Scheer Manfred 
Published: May 2021

AbstractThe reactions of the cyclo‐As5 complex [Cp*Fe(η5‐As5)] (B) with the AgI and CuI salts of the weakly coordinating anion (WCA) [FAl{OC6F10(C6F5)}3]− ([FAl]−) are studied. These reactions allow the synthesis of the mononuclear complexes [M(η5 : η2‐B)2][FAl] (M=Ag (1), Cu (2)) when a ratio of B/M(FAl) 2 : 1 is used. Compound 1 shows an unusual disorder of the central AgI cation between two π‐coordinating cyclo‐As5 ligands, which is absent in 2 pointing to a weak interaction of the Ag center towards the cyclo‐As5 ligands in B. When the ratio of B/Ag(FAl) is changed to 3 : 1 or 1 : 1, the respective coordination compounds [Ag(η2‐B)3][FAl] (3) and [Ag2(η2 : η2‐B)2][FAl]2 (4) are accessible. The coordination modes of the cyclo‐As5 units in 1, 3 and 4 are all different, reflecting the adaptive coordination behavior of B towards AgI ions. The optimized geometries in the gas phase of 1–4 are determined by DFT calculations to support the bonding situation observed in their solid‐state structures.
Re‐entrant Photoinduced Morphological Transformation and Temperature‐Dependent Kinetic Products of a Rectangular Amphiphilic Diarylethene Assembly
Authors: Kotani Yasunobu , Yasuda Haruka , Higashiguchi Kenji , Matsuda Kenji 
Published: May 2021

AbstractAn amphiphilic rectangular‐shaped photochromic diarylethene bearing two hydrophobic alkyl chains and two hydrophilic tri(ethylene glycol) chains was synthesized, and its photoinduced morphological transformation in water was investigated. Two unexpected phenomena were revealed in the course of the experiments: a re‐entrant photoinduced macroscopic morphological transformation and temperature‐dependent kinetic products of supramolecular assembly. When the pure closed‐ring isomer was dispersed in water, a re‐entrant photoinduced morphological transformation, that is, a photoinduced transition from the hydrated phase to the dehydrated phase and then back to the hydrated phase, was observed by optical microscopy upon irradiation with green light at 20 °C; this was interpreted by the V‐shaped phase diagram of the LCST transition. The aqueous assembly of the pure closed‐ring isomer was controlled by changing the temperature; specifically, rapid cooling to 15 and 5 °C gave J and H aggregates, respectively, as the kinetic products. The thermodynamic product at both temperatures was a mixture of mostly H aggregate with a small amount of J aggregate. This behavior was rationalized by the temperature‐dependent potential energy surface of the supramolecular assembly.