bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia
Authors: Bergwitz C. , Prochnau A. , Mayr B. , Kramer F.‐J. , Rittierodt M. , Berten H.‐L. , Hausamen J.‐E. , Brabant G. 
Published: December 2002

AbstractCore binding factor A1 (CBFA1/RUNX2) is a runt‐like transcription factor essential for osteoblast differentiation. Haplotype insufficiency causes cleidocranial dysplasia (CCD), a syndrome featuring supernumerary tooth buds, delayed tooth eruption, patent fontanels, Wormian bones, short stature, dysplasia of the clavicles, growth retardation and hypoplasia of the distal phalanges. We identified novel CBFA1/RUNX2 mutations after PCR and direct sequencing of patient leukocyte DNA. In family 1 mother and son are affected by CCD. Both carry the missense mutation R190W (CGG > TGG). This nucleotide change introduced a BsmI restriction site, which was used to independently confirm the mutation. It was absent in healthy members of the family. Family 2, in which father and daughter are affected by CCD, shows a deletion of nucleotide C821. This deletion causes a frameshift mutation with premature stop after the insertion of 18 aberrant amino acids. Healthy family members did not have this mutation. The clavicular dysplasia was more pronounced with the R190W mutation, while the bone density was markedly reduced in individuals with either mutation, suggesting a previously underemphasized increased risk for osteoporosis in CCD.
“It's the Day‐to‐Day Living That Matters”: The Meaning and Process of Community in the Lives of a Couple with Significant Psychiatric Disabilities
Authors: Royce-Davis Joanna C. 
Published: December 2002

AbstractThis study attempts to define and describe the experience and process of community and community participation using a qualitative case study of a couple labeled with significant psychiatric disabilities. Findings indicate that important influences on perceptions and the process of community belonging include (a) the opportunity to personally define the meaning, limitations, and level of care associated with receiving a psychiatric label; (b) a reciprocal, central relationship; and (c) recognized opportunities for intentional participation in and access to meaningful relationships with other community members, including in the role of coworker or colleague.
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia
Authors: Wilson C. J. , Lee P. J. , Leonard J. V. 
Published: December 2002

AbstractA retrospective review of the plasma ammonia and glutamine concentrations during the long‐term management of 7 patients with ornithine carbamoyltransferase (OCT) deficiency and three with citrullinaemia is presented. The relationship between the plasma concentrations of ammonia and glutamine is not a simple linear one and there are significant differences between the two disorders. Patients with citrullinaemia tend to have higher plasma ammonia concentrations for a given plasma glutamine concentration compared to those with OCT deficiency. The possible reasons for these differences and the implications for management are discussed.
Finding the common structure shared by two homologous RNAs
Authors: Perriquet O. , Touzet H. , Dauchet M. 
Published: December 2002

Abstract
Motivation: CARNAC is a new method for pairwise folding of RNA sequences. The program takes into account local similarity, stem energy, and covariations to produce the common folding. It can handle all RNA types, and has also been adapted to align a new homologous sequence along a reference structured sequence.
Results: Using different data sets, we show that CARNAC provides a good partial prediction for a wide range of sequences (16S ssu rRNA, RNase P RNA, viruses) with only two sequences. In presence of a whole family of sequences, we also show that CARNAC can be used to detect whether the sequences actually share the same structure.
Availability: CARNAC is available at the URLhttp://www.lifl.fr/~perrique/rna/
Contact: ; touzet@lifl.fr
* To whom correspondence should be addressed.
Predicting HIV drug resistance with neural networks
Authors: Drăghici Sorin , Potter R. Brian 
Published: December 2002

Abstract
Motivation: Drug resistance is a very important factor influencing the failure of current HIV therapies. The ability to predict the drug resistance of HIV protease mutants may be useful in developing more effective and longer lasting treatment regimens.
Methods: The HIV resistance is predicted to two current protease inhibitors, Indinavir and Saquinavir. The problem was approached from two perspectives. First, a predictor was constructed based on the structural features of the HIV protease–drug inhibitor complex. A particular structure was represented by its list of contacts between the inhibitor and the protease. Next, a classifier was constructed based on the sequence data of various drug resistant mutants. In both cases, self-organizing maps were first used to extract the important features and cluster the patterns in an unsupervised manner. This was followed by subsequent labelling based on the known patterns in the training set.
Results: The prediction performance of the classifiers was measured by cross-validation. The classifier using the structure information correctly classified previously unseen mutants with an accuracy of between 60 and 70%. Several architectures were tested on the more abundant sequence data. The best single classifier provided an accuracy of 68% and a coverage of 69%. Multiple networks were then combined into various majority voting schemes. The best combination yielded an average of 85% coverage and 78% accuracy on previously unseen data. This is more than two times better than the 33% accuracy expected from a random classifier.
Contact: sod@cs.wayne.edu
* To whom correspondence should be addressed.
Biology, Context, and Developmental Inquiry
Authors: Kagan Jerome 
Published: December 2002

[Figure: see text]This chapter summarizes some of the conceptual changes in developmental research over the last half-century. These advances include an acknowledgment of the role of maturation; also recognized have been the need for positing distinct psychological structures, the influence of temperament, the malleability of the infant, the role of the local context, and the dynamic nature of the categories describing human psychological types.
Atomic‐Scale High‐Entropy Design for Superior Capacitive Energy Storage Performance in Lead‐Free Ceramics
Authors: Li Dengfeng , Zheng Zihao , Yang Bin , Chen Longyu , Shi Dean , Guo Jinming , Nan Ce‐Wen 
Published: February 2025

AbstractDielectric ceramics with high energy storage performance are crucial for the development of advanced high‐power capacitors. However, achieving ultrahigh recoverable energy storage density and efficiency remains challenging, limiting the progress of leading‐edge energy storage applications. In this study, (Bi1/2Na1/2)TiO3 (BNT) is selected as the matrix, and the effects of different A‐site elements on domain morphology, lattice polarization, and dielectric and ferroelectric properties are systematically investigated. Mg, La, Ca, and Sr are shown to enhance relaxation behavior by different magnitudes; hence, a high‐entropy strategy for designing local polymorphic distortions is proposed. Based on atomic‐scale investigations, a series of BNT‐based high‐entropy compositions are designed by introducing trace amounts of Mg and La to improve the electric breakdown strength and further disrupt the polar nanoscale regions (PNRs). A disordered polarization distribution and ultrasmall PNRs with a minimum size of ≈1 nm are detected in the high‐entropy ceramics. Ultimately, a high recoverable energy density of 10.1 J cm−3 and an efficiency of 90% are achieved for (Ca0.2Sr0.2Ba0.2Mg0.05La0.05Bi0.15Na0.15)TiO3. Furthermore, it displays a high‐power density of 584 MW cm−3 and an ultrashort discharge time of 27 ns. This work presents an effective approach for designing dielectric energy storage materials with superior comprehensive performance via a high‐entropy strategy.
In Situ Formation of Ripplocations in Hybrid Organic–Inorganic MXenes
Authors: Lagunas Francisco , Zhou Chenkun , Wang Di , Thakur Anupma , Anasori Babak , Talapin Dmitri V. , Hood Zachary D. , Klie Robert F. 
Published: February 2025

AbstractInorganic–organic hybrid MXenes (h‐MXenes) are a family of 2D transition metal carbides and nitrides functionalized with alkylimido and alkylamido surface groups. Using cryogenic and room temperature scanning transmission electron microscopy (STEM) and electron energy‐loss spectroscopy (EELS), it is shown that ripplocations, a form of a fundamental defect in 2D and layered structures, are abundant in this family of materials. Furthermore, detailed studies of electron probe sample interactions, focusing on structural deformations caused by the electron beam are presented. The findings indicate that at cryogenic temperatures (≈100 K) and below a specific dose threshold, the structure of h‐MXenes remains largely intact. However, exceeding this threshold leads to electron beam‐induced deformation through ripplocations. Interestingly, the deformation behavior, required dose, and resultant structure are highly dependent on temperature. At 100 K, it is demonstrated that the electron beam can induce ripplocations in situ with a high degree of precision.
Zinc Single‐Atom Catalysts Encapsulated in Hierarchical Porous Bio‐Carbon Synergistically Enhances Fast Iodine Conversion and Efficient Polyiodide Confinement for Zn‐I2 Batteries
Authors: Pei Li‐Hua , Xu Dong‐Ming , Luo Yan‐Zhu , Guo Shao‐Jie , Liu De‐Rong , Jiang Si‐Jie , Zhang Wen‐Jun , Cao Fei‐Fei 
Published: February 2025

AbstractAqueous zinc iodine (Zn‐I2) batteries have attracted attention due to their low cost, environmental compatibility, and high specific capacity. However, their development is hindered by the severe shuttle effect of polyiodides and the slow redox conversion kinetics of the iodine (I2) cathode. Herein, a long‐life Zn‐I2 battery is developed by anchoring iodine within an edible fungus slag‐derived carbon matrix encapsulated with Zn single‐atom catalysts (SAZn@CFS). The high N content and microporous structure of SAZn@CFS provide a strong iodine confinement, while the Zn‐N4‐C sites chemical interact with polyiodides effectively mitigating the iodine dissolution and the polyiodide shuttle effect. Additionally, the uniformly distributed SAZn sites significantly enhance the redox conversion efficiency of I−/I3−/I5−/I2, leading to improved capacity. At a high current density of 10 A g−1, the designed Zn‐I2 battery delivers an excellent capacity of 147.2 mAh g−1 and a long lifespan of over 80 000 cycles with 93.6% capacity retention. Furthermore, the battery exhibits stable operation for 3500 times even at 50 °C, demonstrating significant advances in iodine reversible storage. This synergistic strategy optimizes composite structure, offering a practical approach to meet the requirements of high‐performance Zn‐I2 batteries.
Engineering of Lignocellulose Pulp Binder for Ah‐Scale Lithium–Sulfur Batteries
Authors: Li Shengzhi , Chen Zhuzuan , Chen Jie , Luo Xintao , Qiu Xueqing , Qian Yong 
Published: February 2025

AbstractNatural binders play attractive roles in stabilizing lithium–sulfur (Li–S) battery systems due to their polymeric skeleton and abundant functional structures, but the complex extraction and modification hinder the practical use. Here, lignocellulose, the unbleached product of the pulp industry, is directly developed as a robust binder in Li–S batteries. Benefiting from various oxygen‐containing functional groups woven strong hydrogen‐bonded network framework, robust mechanical stability, lithium polysulfide anchoring capacity, and high‐speed Li+ transport channel. The Li–S cell battery delivers an initial discharge capacity of 996 mAh·g⁻¹ at a current density of 0.5 C and can stably run 500 cycles. Moreover, an Ah‐scale pouch cell is constructed and delivers notable gravimetric and volumetric energy densities of 322 Wh·kg⁻¹ and 432 Wh·L⁻1, respectively. This work expands the application boundaries of bulk lignocellulose pulp in advanced energy storage systems.
Farmers' Perceived Transparency and Performance: A Moderated‐Mediation Model of Supply Chain Type, Buyer Type, and Relationship Quality
Authors: Vandenhaute Heidi , Gellynck Xavier , De Steur Hans 
Published: February 2025

ABSTRACTThis study explores the potential of short food supply chains in addressing information asymmetries within the agri‐food chain. Drawing on data from 133 farmers in Flanders, Belgium, this research examines farmers' transparency perceptions regarding their buyers and evaluates their associations with relationship quality and perceived performance. The findings reveal a direct positive association between perceived transparency and perceived performance, with a substantial mediation through relationship quality. Moderated mediation analyses underscore the significant roles of supply chain type and buyer type in shaping these relationships. Notably, the association between transparency and performance is more pronounced for farmers engaged in short food supply chains and with privately owned buyers, contexts characterized by lower transparency perceptions. This highlights the potential benefits of enhanced transparency, particularly in such farmer–buyer relationships. This study emphasizes the importance for researchers, policymakers, and stakeholders to identify and strategically target practices aimed at increasing transparency in agri‐food supply chains.
Atomically dispersed Cu‐Zn tandem catalyst for efficient electrocatalytic reduction of CO2 to alcohols
Authors: Wang Hui , Jin Yifan , Jin Yaxin , Kuang Siyu , Yan Tianxiang , Wang Xinyue , Wang Xiao , Cui Wenquan , Zhang Sheng 
Published: February 2025

AbstractElectrochemical carbon dioxide reduction reaction (CO2RR) is one of the most prospective strategies to achieve carbon neutrality. Multi‐carbon compound (C2+) products have higher commercial value and wider applications, among which ethanol is a widely used chemical feedstock and high energy density fuel. Here, we prepared nitrogen‐doped carbon nanofibers containing copper‐zinc double atoms using the electrospinning technique and controlled the content of both metal atoms by varying the calcination temperature. This catalyst exhibited ultra‐high selectivity for ethanol at low potentials. Ethanol selectivity at −0.3 V versus RHE was more than 60% with the total alcohol selectivity of over 80%. Meanwhile, we explored the ethanol production pathway by combining density‐functional theory (DFT) and ATR‐FTIR spectroscopy, and found that OCCO* intermediates were most abundant for the optimal ratio of Cu to Zn atoms, lowering the energetic barriers to ethanol formation, and thus improving the selectivity of ethanol production.
Cs+‐enabled stabilization of sub‐nanometer Pt‐bimetallic catalysts for propane dehydrogenation
Authors: Chai Shanshan , Xue Fan , Shao Yifan , Yao Yongbin , Li Jumeng , Wang Xi 
Published: February 2025

AbstractHighly dispersed Pt‐bimetallic sub‐nanometer catalysts are crucial for efficient propane dehydrogenation (PDH), but synthesizing them with cost‐effective Pt precursors is challenging due to Pt's tendency to agglomerate, reducing catalytic activity. This study presents a Cs+‐mediated vacancy‐anchoring strategy to fabricate sub‐nanometer Pt‐bimetallic aggregates (CsPtM, M = Sn, V, Cr, Zn, Ga, Mn, Nb, Cu, and In) supported on Al₂O₃. Cs+ ions selectively occupy cationic vacancies on the Al₂O₃ surface, which serves to anchor Pt species, preventing their agglomeration and promoting the formation of sub‐nanoclusters through electrostatic interactions with [PtCl₆]2− precursor. Consequently, the CsPtM catalysts exhibit superior PDH performance compared to their PtM counterparts. Notably, CsPtSn demonstrates exceptional durability (450 h) and high propylene space–time yields (STY) after continuous operation. This enhanced performance is attributed to the strong metal‐support interaction induced by the vacancy‐anchoring strategy, which effectively suppresses metal sintering and preserves highly dispersed active sites.
Fertility Behavior in the Context of Polygyny in Pakistan With the Moderating Effect of Household Wealth Status Evidences From Demographic and Health Survey 2017–18
Authors: Shah Athar Ali , Sang Anqi , Ibupoto Mukhtiar Hussain 
Published: February 2025

ABSTRACTIntroductionFertility and population dynamics in Pakistan play a critical role in shaping the country's socio‐economic development. High fertility rates contribute to rapid population growth and pose significant challenges to healthcare, education, and resource management. This study investigates the relationship between polygyny and fertility, with the moderating effect of household wealth status.MethodThe study utilizes data from the “Demographic and Health Survey 2017–18”. It implies zero‐truncated negative binomial regression, interaction effect, marginal analysis, and propensity score matching techniques. The total number of samples size is 50 495 women including 48 699 belonging to polygynous and 1796 with monogamous families.ResultsPolygynous unions are generally associated with higher fertility rates than their monogamous counterparts, as indicated by an IRR of 1.03 (CI: 1.00–1.05). This finding is further supported by propensity score matching, controlling for household wealth status, education, husband's education, residency, and region. After accounting for these demographic factors, the analysis reveals that polygynous families, on average, have 14% more children than monogamous families. Additionally, the relationship between polygyny and fertility is influenced by household wealth status.ConclusionWhile the household wealth index typically shows a negative association with fertility, this pattern does not apply to polygynous families, where wealthier households tend to have more children than monogamous ones. This interaction between wealth and polygyny highlights a complex dynamic, suggesting that wealth amplifies fertility within polygynous unions, diverging from the general trend of declining fertility with increasing wealth.
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
Authors: Dominicis Angela De , Sparascio Francesca Piceci , Stregapede Fabrizia , Terracciano Alessandra , Verrigni Daniela , Lepri Francesca Romana , Cetola Sarah , Dentici Maria Lisa , Vigevano Federico , Novelli Antonio , Specchio Nicola , Trivisano Marina , Digilio Maria Cristina 
Published: February 2025

ABSTRACTMTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086). We present clinical data about four new unrelated patients harboring the MTSS2 recurrent variant c.2011C>T (p.Arg671Trp). Common clinical features included developmental delay (particularly affecting language skills), mild intellectual disability, learning disabilities, microcephaly, non‐specific brain MR findings and facial dysmorphisms. Other features were hypotonia, psychiatric disorders, generalized febrile or afebrile seizures with generalized epileptic anomalies on EEG, growth delay, skeletal anomalies, feeding difficulties (particularly affecting chewing), and poor coordination. Rare manifestations included hearing loss, ocular, gastrointestinal, genitourinary, and cardiovascular anomalies. To date, only six cases were documented in literature. Neurodevelopmental disorder with intellectual disability, microcephaly, and dysmorphisms are the main features of the disease. This study elaborates on the clinical manifestations, exploring the characterization of both neurologic and extra‐neurologic comorbidities, proposing a possible association with cardiac and renal malformations. We suggest that MTSS2 could be linked to a predominantly neurological but multisystem disorder.
Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early‐Onset Lysosomal Storage Diseases
Authors: Borges Beltran , Canepa Emma , Chang Irene J. , Herzeg Akos , Lianoglou Billie , Kishnani Priya S. , Harmatz Paul , MacKenzie Tippi C. , Cohen Jennifer L. 
Published: February 2025

ABSTRACTThe expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by monogenic disease. For lysosomal storage diseases (LSDs), enzyme replacement therapy (ERT) often represents the main therapeutic approach. In utero enzyme replacement therapy (IUERT) has several potential benefits compared to postnatal therapy, such as: (1) delivering enzyme before the onset of irreversible organ damage; (2) developing tolerance toward the recombinant enzyme; and (3) targeting the central nervous system through a more permeable blood–brain barrier. In this review, we examine the general and disease‐specific rationale for IUERT, and provide an overview of the main elements of our current clinical trial for the prenatal treatment of early‐onset lysosomal storage diseases.Trial Registration: IUERT clinical trial: NCT04532047; Alpha thalassemia clinical trial: NCT02986698
Efficient Hole Extraction and *OH Alleviation by Pd Nanoparticles on GaN Nanowires in Seawater for Solar‐Driven H2 and H2O2 Generation
Authors: Salman Nasir Muhammad , Zhao Ying , Ye Haotian , Wang Tao , Sheng Bowen , Song Jun , Li Jinglin , Wang Ping , Wang Xinqiang , Huang Zhen , Zhou Baowen 
Published: February 2025

AbstractPhotocatalytic seawater splitting into hydrogen and hydrogen peroxide (2H2O→H2↑ + H2O2) offers an ultimate solution for simultaneously generating green fuel and value‐added chemicals by the two most earth‐abundant resources i.e., solar energy and natural seawater. In this study, Pd nanoparticles are integrated with one‐dimensional gallium nitride nanowires (Pd NPs/GaN NWs) on a silicon wafer to produce H2 and H2O2 from seawater powered by sunlight. In situ spectroscopic characterizations combined with computational investigations reveal that in this nanohybrid, Pd NPs function as an efficient hole extractor and *OH alleviator during photocatalysis. Meanwhile, the chloride ions in seawater facilitate the H2O→ H2 + H2O2 conversion by improving the charge dynamics and lowering the energy barrier of the key *OH self‐coupling step over Pd sites in the catalytic system. As a result, the photocatalyst delivers an appreciable hydrogen production rate of 2.5 mmol⋅cm−2⋅h−1 with a light‐to‐hydrogen (LTH) efficiency of 4.38 % in natural seawater under concentrated light irradiation of 3 W⋅cm−2 without sacrificial agents and external energies. Notably, the water oxidation reaction produces 300 μmol/L of valuable H2O2 over a duration of 2 hours under a light intensity of 3 W/cm2 using a 20 mL water sample, achieving a light‐to‐chemical efficiency of 0.53 %. The photocatalyst shows excellent stability for up to 60 hours with a considerable turnover number of 1.42×107 moles H2 per mole of Pd. The outdoor test further suggests the great potential for solar‐driven seawater splitting into green fuels and chemicals.