bluuebunny/crossref_metadata_2025_split huggingface dataset:
Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights
Authors: Ghalamkari Safoura , Mianesaz Hamidreza , Chitsaz Ahmad , Ghazavi Mohammadreza , Salehi Mansoor 
Published: December 2024

ABSTRACTIntellectual disability (ID) is a leading cause for referral to genetic services, with the most severe cases typically attributed to single genetic defects. This study aimed to evaluate the diagnostic yield of cost‐effective proband‐only exome sequencing for individuals diagnosed with ID within the Iranian population for the first time where a high rate of parental consanguinity exists. A total of 99 unrelated patients with ID were investigated by exome sequencing during 8 years. As a result, 43 pathogenic/likely pathogenic variants were identified in 40 patients, indicating a molecular diagnostic rate of 40.4% (40/99). The inclusion of five chromosomal copy number variations in the subsequent analysis increased the diagnostic rate of proband‐only exome sequencing to 45.4% (45/99). Additionally, parental testing revealed five de novo variants. This contributed to a total diagnostic rate of 50.5% (50/99). In our study, proband‐only exome sequencing achieved a remarkable diagnostic rate, identifying nearly half of the ID cases. This rate of diagnosis could be primarily attributed to prevalent consanguineous marriage in the Iranian population and the rare identification of de novo variants. With the ongoing advancements in neurogenetics, proband‐only exome sequencing demonstrates significant potential as a future cost‐effective diagnostic approach in Iran.
Construction of N‐Sulfonyl Amidines: Self‐Assembly through Synergy between Hydrogen Bonding and Lewis Pairs
Authors: Ye Weijian , Lu Aoyun , Zhang Ziyi , Lu Guodan , Du Xiangshuai , Wang Yong , Wan Xiaobing 
Published: December 2024

AbstractSelf‐assembly with non‐covalent interactions (NCIs) is a ubiquitous phenomenon observed in biology and materials chemistry, while its application in synthetic chemistry is still in its infancy. Herein, a self‐assembly condensation method from sulfonamides and imides is reported, leading to the formation of N‐acyl‐N′‐sulfonyl amidines. DFT calculations and NMR investigations suggest that the process is facilitated by cooperative assisted NCIs, including hydrogen bonding and Lewis pairs. Moreover, this methodology can be applied in the late‐stage derivatization of bioactive and complex sulfonamides, offering a potential avenue for the discovery of drug molecules. Extension of this methodology to the condensation of various sulfonamides and amides has also been successfully achieved.
Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease
Authors: Zhou Xiaopu , Cao Han , Jiang Yuanbing , Chen Yuewen , Zhong Huan , Fu Wing Yu , Lo Ronnie Ming Nok , Wong Bonnie Wing Yan , Cheng Elaine Yee Ling , Mok Kin Ying , Kwok Timothy C. Y. , Mok Vincent C. T. , Ip Fanny C. F. ,   Alzheimer's Disease Neuroimaging Initiative, Miyashita Akinori , Hara Norikazu , Ikeuchi Takeshi , Hardy John , Chen Yu , Fu Amy K. Y. , Ip Nancy Y. 
Published: December 2024

AbstractINTRODUCTIONThe SORL1 locus exhibits protective effects against Alzheimer's disease (AD) across ancestries, yet systematic studies in diverse populations are sparse.METHODSLogistic regression identified AD‐associated SORL1 haplotypes in East Asian (N = 5249) and European (N = 8588) populations. Association analysis between SORL1 haplotypes and AD‐associated traits or plasma biomarkers was conducted. The effects of non‐synonymous mutations were assessed in cell‐based systems.RESULTSProtective SORL1 variants/haplotypes were identified in the East Asian and European populations. Haplotype Hap_A showed a strong protective effect against AD in East Asians, linked to less severe AD phenotypes, higher SORL1 transcript levels, and plasma proteomic changes. A missense variant within Hap_A, rs2282647‐C allele, was linked to a lower risk of AD and decreased expression of a truncated SORL1 protein isoform.DISCUSSIONOur transethnic analysis revealed key SORL1 haplotypes that exert protective effects against AD, suggesting mechanisms of the protective role of SORL1 in AD.Highlights
We examined the AD‐protective mechanisms of SORL1 in the general population across diverse ancestral backgrounds by jointly analyzing data from three East Asian cohorts (ie, mainland China, Hong Kong, and Japan) and a European cohort.
Comparative analysis unveiled key ethnic‐specific SORL1 genetic variants and haplotypes. Among these, the SORL1 minor haplotype, Hap_A, emerged as the primary AD‐protective factor in East Asians. Hap_A exerts significant AD‐protective effects in both APOE ε4 carriers and non‐carriers.
SORL1 haplotype Hap_A is associated with cognitive function, brain volume, and the activity of specific neuronal and immune‐related pathways closely connected to AD risk.
Protective variants within Hap_A are linked to increased SORL1 expression in human tissues.
We identified an isoform‐specific missense variant in Hap_A that modifies the function and levels of a truncated SORL1 protein isoform that is poorly investigated.
Regulated Li+ Solvation via Competitive Coordination Mechanism of Organic Cations for High Voltage and Fast Charging Lithium Metal Batteries
Authors: Yu Jiangtao , Ma Xinyu , Zou Xiuyang , Hu Yin , Yang Mingchen , Cai Yuanli , Yan Feng 
Published: December 2024

AbstractLi+ solvation exerted a decisive effect on electrolyte physicochemical properties. Suitable tuning for Li+ solvation enabled batteries to achieve unexpected performance. Here, we introduced inert organic cations to compete with Li+ for combining electrolyte molecules to modulate Li+ coordination in the electrolyte. The relevance between the number of cationic sites in organic cations and the competitive solvation ability was explored. The organic cations with multiple cationic sites attracted solvent molecules and anions away from Li+ to form new solvated shell, improving the Li+ transport kinetics and desolvation process in electrolyte while enhancing electrolyte oxidation tolerance. Moreover, electrostatic shielding provided by organic cations and anion‐derived robust SEI promoted uniform and rapid Li+ deposition on Li electrodes. With the positive effect of organic cations, Li||LiCoO2 (LCO) batteries showed high specific capacity (136.46 mAh g−1) at high charge/discharge rate (10 C). Furthermore, Li||LCO batteries exhibited good capacity retention (70 % after 500 cycles) at 4.6 V charge cut‐off voltage. This work provides fresh insights for the optimization of electrolytes and battery performance.
Boosting C2+ Alcohols Selectivity and Activity in High‐Current CO Electroreduction using Synergistic Cu/Zn Co‐Catalysts
Authors: Wu Zhitan , Meng Nannan , Yang Rong , Chen Maoxin , Pan Jinhui , Chi Sijia , Wu Chao , Xi Shibo , Liu Yuan , Ou Yingqing , Wu Wenya , Han Shuhe , Zhang Bin , Yang Quan‐Hong , Ping Loh Kian 
Published: December 2024

AbstractThe electrosynthesis of multi‐carbon (C2+) alcohols, specifically ethanol and n‐propanol through CO electroreduction (CORR) in H2O, presents a sustainable pathway for intermittent renewable energy storage and a low‐carbon economy. However, achieving high selectivity for alcohol production at industrial current densities is kinetically hampered by side reactions such as ethylene generation and hydrogen evolution reaction, which result from competing adsorption of *CO and *H. In this study, we developed a Cu/Zn alloy catalyst to simultaneously enhance the activity and selectivity for alcohol production by increasing CO capture capacity and enriching active hydrogen on Cu sites. Our findings demonstrate that the Cu/5Zn alloy with a molar ratio of Cu to Zn of 95 : 5 exhibits a Faradaic efficiency of 50 % for the selective electrosynthesis of C2+ alcohols during ampere‐level CO electrolysis. Mechanistic investigations revealed that the Cu/Zn alloy promotes polarized Cu sites, enhancing CO adsorption while facilitating the spillover of hydrogen atoms from Zn to Cu sites, contributing to selective alcohol formation.
High‐Nuclearity Polyoxometalate‐Based Metal–Organic Frameworks for Photocatalytic Oxidative Cleavage of C−C Bond
Authors: Zhao Qixin , Zeng Yang , Jiang Zhiqiang , Huang Zhenxuan , Long De‐Liang , Cronin Leroy , Xuan Weimin 
Published: December 2024

AbstractHigh‐nuclearity polyoxometalate (POM) clusters are attractive building blocks (BBs) for the synthesis of metal–organic frameworks (MOFs) due to their high connectivity and inherently multiple metal centers as functional sites. This work demonstrates a strategy of step‐wise growth on ring‐shaped [P8W48O184]40− precursor, which produced two new high‐nuclearity polyoxotungstates, a half‐closed [H16P8W58O218]32− {W58} and a fully‐closed [H16P8W64O236]32− {W64}. By in situ synthesis, unique MOFs of copper triazole‐benzoic acid (HL) complexes incorporating the negatively‐charged {W58} and {W64} as nodes, {Cu11(HL)9W58} HNPOMOF‐1 and {Cu9(HL)9W64} HNPOMOF‐2, were constructed by delicately tuning the reaction conditions, mainly solution pH, which controls the formation of {W58} and {W64}, and at the same time the protonation of triazole‐benzoic acid ligand thus its coordination mode to copper ion that creates the highest nuclearity POM‐derived MOFs reported to date. HNPOMOF‐1 features 3D framework possessing cage‐like cavities filled with exposed carboxyl groups, while the inherent 2D layer‐like HNPOMOF‐2 allows for facile exfoliation into ultrathin nanosheets, and the resulted HNPOMOF‐2NS exhibits superior activity towards photocatalytic oxidative cleavage of C−C bond for a series of lignin models. This work not only provides a strategy to build high‐nuclearity POM cluster‐based frameworks, but also demonstrates their great potential as functional materials for green catalysis.
Coaxial Helices in Chiral Supramolecular Aggregates from Highly Hindered Chiral Allenes
Authors: Lago‐Silva María , Fernández‐Míguez Manuel , Fernández Zulema , Cid María Magdalena , Quiñoá Emilio , Rodríguez Rafael , Freire Félix 
Published: December 2024

AbstractChiral allenes self‐assembly following a cooperative mechanism into a supramolecular chiral aggregate consisting of two coaxial helices: the internal helix described by the allene stack and the external helix which consist in a 4‐helix described by the four allene substituents. More precisely, this supramolecular aggregate possesses six axially chiral elements within its structure—the allene, the allene stack (internal helix) and the stacks of the four allene substituents (external 4‐helix)—. Interestingly, slight variations in the magnitude of the tilting degree while keeping its P‐ or M‐ orientation (internal helix) can vary the orientation of the 4‐axial motifs at the external helix. Thus, while (P)‐1 produces a supramolecular helix with a Θ ca. 15° (Pint) and a M1/P2/M1’/P2’ orientation of the four axial motifs at the periphery, (P)‐2 produces a supramolecular helix with a Θ ca. 23° (Pint) and a P1/P2/P1’/P2’ orientation of the four axial motifs at the external helix. As a result, the ECD spectra and the AFM images of the (P)‐1 and (P)‐2 supramolecular aggregates dominated by the 1 and 1’ substituents of the chiral allene indicate opposite handedness although the chirality of the building block and the orientation of the allene stack are the same
Direct Synthesis of Semiconductive AgBiS2 NC Inks toward High‐Efficiency, Low‐Cost and Environmental‐Friendly Solar Cells
Authors: Yuan Lin , Li Yang , Liu Yang , Lu Kunyuan , Shi Guozheng , Sun Xiang , Li Yong , Dong Xinyu , Xiao Yuran , Huang Lizhen , Liu Zeke , Ma Wanli 
Published: December 2024

AbstractSilver bismuth sulfide nanocrystals (AgBiS2 NCs) embody a pioneering heavy‐metal‐free photovoltaic material renowned for its ultrahigh absorption coefficient, offering promising opportunities for advancing the field of ultra‐thin and biocompatible solar cells. Currently, the fabrication of AgBiS2 NC photovoltaic devices relies on hot‐injection synthesis and subsequent tedious ligand exchange, leading to high production cost, complex processes and environmental pollution. Here, we developed a direct‐synthesis (DS) method without ligand‐exchange for AgBiS2 NC semiconductive inks, significantly simplifying the material preparation and device fabrication processes. The synthesis cost of AgBiS2 inks (17.0 $ g−1) is over an order of magnitude lower than the traditional method (203.5–275.2 $ g−1). Through optimizing synthesis and device structure, a champion power conversion efficiency of 9.32 % was achieved, aligning with the highest reported efficiency (9.17 %) based on ligand‐exchanged methods. In addition, our DS‐AgBiS2 inks show excellent storage stability for over ten months. More importantly, the life cycle assessment (LCA) indicates drastically reduced energy consumption as well as environmental and human health impact for our strategy. The low‐cost and scalable synthesis approach for AgBiS2 NC semiconductive inks present a “greener” pathway for the commercial applications of NC optoelectronics.
Intramolecular Hydrogen Bonds Weaken Interaction Between Solvents and Small Organic Molecules Towards Superior Lithium‐Organic Batteries
Authors: Sun Tianjiang , Zhang Weijia , Shi Mengyao , Li Diantao , Sun Qiong , Cheng Min , Tao Zhanliang 
Published: December 2024

AbstractThe strong interaction between organic electrode materials (OEMs) and electrolyte components induces a high solubility tendency of OEMs, thus hindering the practical application of lithium‐organic batteries. Herein, we propose an efficient strategy for intramolecular hydrogen bonds (HBs) to redistribute the charge of OEMs to weaken the interaction with electrolyte components, thereby suppressing their dissolution. For the designed 2,2′,2′′‐(2,4,6‐trihydroxybenzene‐1,3,5‐triyl) tris (1H‐naphtho[2,3‐d]imidazole‐4,9‐dione) (TPNQ) molecule, the intramolecular HBs (O−H⋅⋅⋅N and N−H⋅⋅⋅O) reduce the charge density of active sites and alter the charge distribution on the molecular skeleton. As a result, TPNQ shows significantly reduced solubility in both ether‐ and ester‐based solvents. In situ measurements and theoretical calculations indicate that the O−H⋅⋅⋅N dominated HB interaction strengthening during the discharging process, which can continuously suppress dissolution. Therefore, the TPNQ cathode displays high cycling stability (no capacity fading over 100 cycles at 0.1 A g−1; 88.4 % capacity retention over 1000 cycles at 1 A g−1), fast Li+‐storage kinetics (211 mAh g−1 at 2 A g−1), and surprising low‐temperature performances (stability cycles 500 times at −60 °C). Our results offer evidence that the intramolecular HBs strategy is promising in developing robust organic electrode materials for rechargeable batteries.
Hydrogen/Electron Amphiphilic Bi‐Functional Water Molecular Inactivator‐Assisted Interface Stabilization in Highly Reversible Zn Metal Batteries
Authors: Zhang Wenwei , Zhu Shaohua , Yang Tong , Wu Lu , Li Jinghao , Liang Jiang , Liu Yu , Cui Lianmeng , Tang Chen , Chen Xinran , Zhou Huiqing , Qiao Fan , Zhou Min , Luo Ping , Chi Fengtong , Liao Xiaobin , Zhang Lei , An Qinyou 
Published: December 2024

AbstractContinuous hydrogen‐bond‐network in aqueous electrolytes can lead to uncontrollable hydrogen transfer, and combining the interfacial parasitic electron consumption cause the side reaction in aqueous zinc metal batteries (AZMBs). Herein, hydrogen/electron amphiphilic bi‐functional 1,5‐Pentanediol (PD) molecule was introduced to stabilize the electrode/electrolyte interface. Stronger proton affinity of ‐OH in PD can break bulk‐H2O hydrogen‐bond‐network to inhibit the activity of water, and electron affinity can enhance electron acceptation capability, which ensures that PD is preferentially bound to electrode material over H2O. Besides, the participation of PD in the Zn2+ solvation structure reduces water content at the solid–liquid interface and promotes uniform deposition process by optimizing Zn2+ de‐solvation energy. Accordingly, dense and vertical zinc texture based on intrinsic steric hindrance effect of PD and formed SEI protective layer to induce stable Zinc anode‐electrolyte interface. Moreover, an organic–inorganic shielding water layer was formed at the cathode side to suppress vanadium dissolution in vanadium Oxide. Consequently, Zn//Zn symmetric cell could cycle for more than 5600 hours at 1 mAh cm−2@1 mA cm−2 (more than 250 hours at 50 °C). Besides, the VO2 and I2 cathode all achieved stable cycling performance and former pouch cell could reach average capacity of 0.13 Ah.
The Upcycling of Polyester Fabric for High‐Performance HDPE/WPET Composites via Solid‐State Drawing
Authors: Li Liang , Du Xvtong , Yang Shuangqiao 
Published: December 2024

ABSTRACTPolyester is the most widely used synthetic fiber globally. However, recycled products from waste polyester textiles (WPET) often suffer from poor performance and low value. This paper introduces solid‐state shear milling technology (S3M) to transform WPET into ultrafine fiber powder with a high aspect ratio, followed by solid‐state drawing processing producing to produce high performance HDPE/WPET composites. Compared with the pure high density, the flexural strength of WPET with 15% content increased to 24.94 MPa, while the tensile modulus and flexural modulus increased to 507 and 798 MPa, respectively, and the prestretched sheet with good performance was prepared. At a solid‐state drawing ratio of 6, the composite exhibited an impressive tensile strength of 116.8 MPa, representing a 600% increase compared to unstretched samples. Additionally, the in‐plane thermal conductivity reached 2.89 W/mK, which was 438% higher than unstretched samples. SAXS and 2D‐WAXD analyses demonstrated that high solid‐state drawing enhanced the orientation of WPET fibers and HDPE, forming an oriented structure. This led to composite crystallinity and orientation levels of 63.7% and 93%, respectively. This study has represented a novel approach to producing high‐performance functional products from dye‐containing polyester fabrics without requiring separation or physical recovery processes.
The Joys of Giving Up … Embracing the Motivations and Gratifications of Intentional Value Uncapture in Sustainable Development
Authors: Kabalska Agnieszka , Wagner Ralf 
Published: December 2024

ABSTRACTThis study examines the concept of sustainable value (SV), focusing on SV derived from social interactions within entrepreneurial processes. We introduce the novel concept of value intentionally uncaptured (VIU), exploring its dimensions at both the individual and collective levels. This research employs uses and gratification theory and self‐determination theory to conceptualize motivations for leaving VIU (M‐VIU) and gratifications from leaving VIU (G‐VIU). We challenge traditional notions of value creation and capture, positing that entrepreneurs can generate and capture social and environmental value by intentionally not capturing economic value. This intentional relinquishment evokes the ambiguity inherent in SV, suggesting that motivations and gratifications in VIU are interconnected, dynamic, and fluctuating, not linear. Methodologically, we integrate theory development with empirical evidence, including expert reviews and interviews, to ask whether it is reasonable to leave value uncaptured. Our findings reveal that motivations for and gratifications from VIU are reciprocal and co‐active, challenging the traditional view that positive outcomes are derived solely from proactive actions. This conceptual study both broadens the perspective on value creation and capture and significantly contributes to understanding individual and collective gratifications from intentionally uncapturing value, emphasizing the benefits of not engaging in certain activities.
Deciphering the Interplay Between G‐Quadruplexes and Natural/Synthetic Polyamines
Authors: Gil‐Martínez Ariadna , Galiana‐Roselló Cristina , Lázaro‐Gómez Andrea , Mulet‐Rivero Laura , González‐García Jorge 
Published: December 2024

AbstractThe interplay between polyamines and G‐quadruplexes has been largely overlooked in the literature, even though polyamines are ubiquitous metabolites in living cells and G‐quadruplexes are transient regulatory elements, being both of them key regulators of biological processes. Herein, we compile the investigations connecting G‐quadruplexes and biogenic polyamines to understand the biological interplay between them. Moreover, we overview the main works focused on synthetic ligands containing polyamines designed to target G‐quadruplexes, aiming to unravel the structural motifs for designing potent and selective G4 ligands.
Visible‐Light‐Induced ArC(sp3)−F Bond Activation in Aqueous Media: From DFT Study to Molecular Design
Authors: Zhang Cefei , Li Sitong , Deng Lijun , Yan Jinmeng , Su Zhishan , Yu Zhipeng , Hu Changwei 
Published: December 2024

AbstractTrifluoromethylarenes (ArCF3) are crucial bioisosteres in medicinal chemistry, but catalyst‐free and controlled photo‐activation of the ArC(sp3)−F bond remains a significant challenge. The photo‐induced defluorination acyl fluoride exchange (photo‐DAFEx) of m‐trifluoromethylaniline, induced by ultraviolet light, emerges as a promising novel photo‐click reaction for photoaffinity drug discovery. However, the photophysical properties of NMe2PhF2C(sp3)−F derivatives and factors affecting ArC(sp3)−F bond activation in photo‐DAFEx are not yet fully understood, hindering the development of new photo‐defluorination reagents with longer absorption wavelength for the photo‐DAFEx. Herein, the photophysical properties, the related mechanism and their affecting factors of a series of ArCF3 compounds are systematically studied using (TD)DFT methods. The skeleton of aromatic core is found to be intimately related to the absorption wavelength needed for ArC(sp3)−F bond activation. A photo‐induced intramolecular single‐electron activation model was proposed to rationalize the photo‐activation of the ArC(sp3)−F bond. The transfer of excited electron to C(sp3)−F antibonding orbital determined the activation. Based on the above knowledge, three novel ArCF3 reagents with extended excitation wavelength were designed and predicted, and the absorption spectra and photo‐defluorination reactivity of two of them with visible absorption wavelength were validated experimentally, which provided a theoretical guidance for designing next‐generation photo‐DAFEx.
Synthesis, Characterization, and CO2 Methanation Over Hierarchical ZSM‐5‐NiCoAl Layered Double Hydroxide Nanocomposites: Improvement of C−C Coupling to Ethane
Authors: Prasanseang Warot , Maineawklang Narasiri , Liwatthananukul Natthawoot , Somsri Supattra , Wattanakit Chularat 
Published: December 2024

AbstractTo date, preparing materials with highly dispersed metal nanoparticles without metal agglomeration on a solid support is challenging. This work presents an alternative approach for synthesizing NiCo species on hierarchical ZSM‐5 materials derived from a ZSM‐5@NiCoAl‐LDHs composite. The designed material was prepared by the growth of a NiCo‐layered double hydroxides (LDHs) precursor on the surface of hierarchical ZSM‐5 nanosheets. The effect of the weight ratio of NiCo‐LDHs precursor to ZSM‐5 on the composite properties has been studied. The results show that 45 wt.% LDHs (ZSM‐5@NiCoAl‐LDHs‐45) is the most suitable condition for preparing NiCoAl‐LDHs/ZSM‐5 composite, which promotes a strong interaction between bimetallic NiCo and hierarchical ZSM‐5. The ZSM‐5@NiCoAl‐LDHs‐45 showed a BET surface of 386 m2 g−1, in which the surface area has been re‐allocated between microspores and mesopores due to the presence of NiCoAl‐LDHs composite. The catalyst was also tested for CO2 methanation at 380 °C under atmospheric hydrogen pressure. The results show that the catalyst could provide CO2 conversion of up to 40 % at WSHV of 2.91 h−1. Interestingly, it could not only promote methane but also provide a high selectivity of ethane, approximately 20.4 %. Moreover, the excellent catalytic stability of ethane production was illustrated over 24 hours of time‐on‐stream (TOS).