bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cyclin E1 overexpression sensitizes ovarian cancer cells to WEE1 and PLK1 inhibition
Authors: Xi Qian , Kunita Akiko , Ogawa Miho , Ka Mirei , Tanimoto Saki , Tsuchimochi Saki , Nagai Saeko , Matsunaga Asami , Fukuda Tomohiko , Watanabe Kousuke , Sone Kenbun , Shinozaki-Ushiku Aya , Kawana Kei , Ushiku Tetsuo , Osuga Yutaka , Katayama Kazuhiro , Kage Hidenori , Oda Katsutoshi 
Published: February 2025

Abstract
Cyclin E1 (CCNE1) amplification is associated with poor prognosis of ovarian carcinomas across histological subtypes. Inhibitors targeting PLK1 or WEE1 are emerging as promising therapeutic agents for cancer treatment that disrupt the critical G2/M checkpoint, leading to cancer cell death. However, biomarkers that predict the response to these inhibitors are not well defined. Here, we evaluated the efficacy of the PLK1 inhibitor, volasertib, and the WEE1 inhibitor, adavosertib, along with the biomarker potential of cyclin E1 in ovarian cancer cells. Both inhibitors suppressed the proliferation of cyclin E1-overexpressing cells to a greater extent than that of cells exhibiting low cyclin E1 expression. TP53 silencing did not increase the sensitivity to these inhibitors. In cyclin E1-overexpressing cells, PLK1 inhibition reduced the proportion of cells in the G1 phase and increased those in the G2/M and sub-G1 phases. WEE1 inhibition reduced G1 phase cells without a clear peak in the S-G2/M phase and increased the sub-G1 phase cells. Both inhibitors suppressed the growth of cyclin E1-overexpressing tumors in vivo. Taken together, cyclin E1 overexpression, regardless of TP53 status, may serve as a predictive biomarker for the efficacy of these inhibitors, offering potential personalized treatment strategies for ovarian cancer.
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations
Authors: Kim Ji Hyun , Ahn Yo Han , Jang Yeonji , Park Eujin , Lee Hajeong , Kim Seong Heon , Song Ji Yeon , Han Kyoung Hee , Jung Jiwon , Lee Joo Hoon , Kang Hee Gyung , Jung Jae Ho , Cheong Hae Il 
Published: February 2025

Abstract

PAX2-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with PAX2 pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and urinary tract. Patients were classified by variant type into predicted loss of function (pLoF) and non-pLoF variant groups, and by variant location into paired domain and other sites group. pLoF variants were predominantly associated with RCS, observed in 82% of patients in both our data (18 of 22, P = 0.017) and the literature (140 of 171, P < 0.001). Kidney failure developed in 52% of Korean patients at a median age of 14.5 years, with no difference in kidney survival between variant types. However, the literature review indicated faster progression to kidney failure in patients with pLoF variants (11.0 vs. 24.0 years; pLoF, n = 138 vs. non-pLoF, n = 71; P = 0.002), with no significant difference by variant location. Ocular manifestations were more common, had earlier onset, and were more severe in the pLoF variants group in our cohort (P = 0.038). The literature confirmed a higher prevalence of ocular involvement in patients with pLoF variants (pLoF, n = 175 vs. non-pLoF, n = 88; P < 0.001) and in those with paired domain variants (P = 0.01). pLoF variants in PAX2 were associated with worse kidney and ocular outcomes. These findings support genotype-phenotype correlations, contributing to tailored management in patients with PAX2-related disorders.
Controlling crystallization in covalent organic frameworks to facilitate photocatalytic hydrogen production
Authors: Lin Zheng , Yu Xiangkun , Zhao Zijian , Ding Ning , Wang Changchun , Hu Ke , Zhu Youliang , Guo Jia 
Published: February 2025

Abstract
The catalytic performance, depending on the surface nature, is ubiquitous in photocatalysis. However, surface engineering for organic photocatalysts through structural modulation has long been neglected. Here, we propose a zone crystallization strategy for covalent organic frameworks (COFs) that enhances surface ordering through regulator-induced amorphous-to-crystalline transformation. Dynamic simulations show that attaching monofunctional regulators to the surface of spherical amorphous precursor improves surface dynamic reversibility, increasing crystallinity from the inside out. The resulting COF microspheres display surface-enhanced crystallinity and uniform spherical morphology. The visible photocatalytic hydrogen evolution rate reaches 126 mmol g–1 h–1 for the simplest β-ketoenamine-linked COF and 350 mmol gCOF
–1 h–1 for SiO2@COF with minimal Pt cocatalysts. Mechanism studies indicate that surface crystalline domains build the surface electrical fields to accumulate photogenerated electrons and diminish electron transfer barriers between the COF and Pt interface. This work bridges the gap between microscopic molecules and macroscopic properties, allowing tailored design of crystalline organic photocatalysts.
On-patient medical record and mRNA therapeutics using intradermal microneedles
Authors: Han Jooli , Kanelli Maria , Liu Yang , Daristotle John L. , Pardeshi Apurva , Forster Timothy A. , Karchin Ari , Folk Brandon , Murmann Lukas , Tostanoski Lisa H. , Carrasco Sebastian E. , Alsaiari Shahad K. , Wang Erika Yan , Tran Khanh , Zhang Linzixuan , Eshaghi Behnaz , Levy Lauren , Pyon Sydney , Sloane Charles , Lin Stacey Qiaohui , Lau Alicia , Perkinson Collin F. , Bawendi Moungi G. , Barouch Dan H. , Durand Frédo , Langer Robert , Jaklenec Ana 
Published: February 2025

Abstract
Medical interventions often require timed series of doses, thus necessitating accurate medical record-keeping. In many global settings, these records are unreliable or unavailable at the point of care, leading to less effective treatments or disease prevention. Here we present an invisible-to-the-naked-eye on-patient medical record-keeping technology that accurately stores medical information in the patient skin as part of microneedles that are used for intradermal therapeutics. We optimize the microneedle design for both a reliable delivery of messenger RNA (mRNA) therapeutics and the near-infrared fluorescent microparticles that encode the on-patient medical record-keeping. Deep learning-based image processing enables encoding and decoding of the information with excellent temporal and spatial robustness. Long-term studies in a swine model demonstrate the safety, efficacy and reliability of this approach for the co-delivery of on-patient medical record-keeping and the mRNA vaccine encoding severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This technology could help healthcare workers make informed decisions in circumstances where reliable record-keeping is unavailable, thus contributing to global healthcare equity.
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels
Authors: Hawkes Gareth , Chundru Kartik , Jackson Leigh , Patel Kashyap A. , Murray Anna , Wood Andrew R. , Wright Caroline F. , Weedon Michael N. , Frayling Timothy M. , Beaumont Robin N. 
Published: February 2025

Abstract
The contribution of rare noncoding genetic variation to common phenotypes is largely unknown, as a result of a historical lack of population-scale whole-genome sequencing data and the difficulty of categorizing noncoding variants into functionally similar groups. To begin addressing these challenges, we performed a cis association analysis using whole-genome sequencing data, consisting of 1.1 billion variants, 123 million noncoding aggregate-based tests and 2,907 circulating protein levels in ~50,000 UK Biobank participants. We identified 604 independent rare noncoding single-variant associations with circulating protein levels. Unlike protein-coding variation, rare noncoding genetic variation was almost as likely to increase or decrease protein levels. Rare noncoding aggregate testing identified 357 conditionally independent associated regions. Of these, 74 (21%) were not detectable by single-variant testing alone. Our findings have important implications for the identification, and role, of rare noncoding genetic variation associated with common human phenotypes, including the importance of testing aggregates of noncoding variants.
Cone beam computed tomography based upper airway measurement after orthognathic surgery: a comparative evaluation of different imaging software
Authors: Mini Andreas Helmuth Iti , Wegner Hannes , Lonic Daniel , Loeffelbein Denys J. 
Published: February 2025

Abstract
Cone-beam computed tomography (CBCT) enhances understanding of the upper airway (UA). This study compared three software products’ abilities in visualizing and quantifying specific upper airway changes using CBCT. We conducted a retrospective analysis of pre- and post-operative CBCT images from 29 patients using Dolphin (Do), Romexis 5 (Ro5), and Romexis 6 (Ro6) software, focusing on alterations in oropharyngeal volume and minimum cross-sectional area as key indicators of orthognathic surgery outcomes. ANOVA analysis showed significant differences in volume measurements between Do/Ro5 (p = 0.034) and Do/Ro6 (p = 0.047), but no difference between Ro5 and Ro6 (p = 0.685). No significant differences were found in minimum cross-sectional area parameters. Despite standardized protocols, interpretation discrepancies exist between Do and Ro 5/6, possibly due to program-specific properties. Further studies on threshold value comparability are needed for data standardization. Direct comparisons of clinical data from Do, Ro5, and Ro6 are limited due to methodological disparities. Nonetheless, these programs allow reproducible and quantifiable measurements for clinical assessments of these specific airway changes following orthognathic surgery.
Plasmodium falciparum Pfs47 haplotype compatibility to Anopheles gambiae in Kisumu, a malaria-endemic region of Kenya
Authors: Onyango Shirley A. , Machani Maxwell G. , Ochwedo Kevin O. , Oriango Robin M. , Lee Ming-Chieh , Kokwaro Elizabeth , Afrane Yaw A. , Githeko Andrew K. , Zhong Daibin , Yan Guiyun 
Published: February 2025

Abstract
Insecticide resistance and outdoor transmission have reduced the effectiveness of existing malaria transmission prevention strategies. As a result, targeted approaches to support continuing malaria control, such as transmission-blocking vaccines, are required. Cross-sectional mass blood screening in children between 5 and 15 years was conducted in Chulaimbo, Kisumu, during the dry and wet seasons in 2018 and 2019. Plasmodium falciparum gametocyte carriers were identified by Microscopy. Subsequently, carriers were used to feed colony bred Anopheles gambiae females in serum replacement and whole blood membrane feeding experiments. The infection prevalence was 19.7% (95% Cl 0.003–0.007) with 95% of the infections being caused by P. falciparum. Of all confirmed P. falciparum infections, 16.9% were gametocytes. Thirty-seven paired experiments showed infection rates of 0.9% and 0.5% in the serum replacement and whole blood experiments, respectively, with no significant difference (P = 0.738). Six Pfs47 haplotypes were identified from 24 sequenced infectious blood samples: Hap_1 (E27D and L240I), Hap_2 (S98T); Hap_3 (E27D); Hap_4 (L240I); Hap_5 (E188D); and Hap_6 without mutations. Haplotype 4 had the highest frequency of 29.2% followed by Hap_3 and Hap_6 at 20.8% each then Hap_1 with a frequency of 16.7%, whereas Hap_5 and Hap_2 had frequencies of 8.3% and 4.2% respectively. Varying frequencies of Pfs47 haplotypes observed from genetically heterogeneous parasite populations in endemic regions illuminates vector compatibility to refracting P. falciparum using the hypothesized lock and key analogy. This acts as a bottleneck that increases the frequency of P. falciparum haplotypes that escape elimination by vector immune responses. The interaction can be used as a potential target for transmission blocking through a refractory host.
Utilizing remote sensing and field data for geological mapping and polyphase deformation analysis of Um Laseifa ophiolites, Eastern Desert, Egypt
Authors: Alawy Mahmoud K. , Abdelwahed Mohamed , Moghazi Abdel-Kader M. , Mohamed Fathy H. , Khamis Hossam , Shebl Ali 
Published: February 2025

Abstract
The Wadi Um Laseifa area, located in the Central Eastern Desert of Egypt, encompasses a range of Neoproterozoic rock units, including ophiolitic mélange, island arc assemblage, and granitic intrusions as well as Miocene clastic deposits. The current research attempts to analyze the structural and lithological characteristics of this area by integrating data from multisource remote sensing (Sentinel 2, Planetscope and hyperspectral PRISMA), along with field and structural relationships, geometrical analysis of structural readings, and petrographic studies. Applying various techniques of remote sensing, such as false color composite (FCC), principal component analysis (PCA), and Minimum noise fraction (MNF), enabled the identification of the structural features over various scales besides accurate lithological discrimination. Data analyses have discriminated the intricate Neoproterozoic rocks into ophiolitic mélange that includes serpentinites, meta-pyroxenites, metagabbro, chert and mélange matrix, island arc assemblage comprising metavolcanics, metavolcano-sedimentary rocks and hornblende schist, and monzogranite and granodiorite intrusions. These rocks have been affected by a thrust stack of three major faults striking NW-SE to NNW-SSE and dipping steeply to the SW. There are two prominent folds represented by a major anticline affecting the island arc metavolcano-sedimentary rocks and a major syncline affecting the ophiolitic rocks. Both folds possess axial planes striking NW-SE and gently plunging NW fold axes. The area is also intersected by E-W or ENE-WSW strike-slip faults, along with major NW-SE normal faults that controlled the distribution of the Miocene clastic deposits. Geometrical analysis has identified three ductile deformation phases: D1 is marked by NW-SE isoclinal folds; D2 produced NW-SE major folds and thrust faults that are coaxial with D1; and D3 led to the formation of NE-SW open folds. The multisource remote sensing analysis that has been carried out in this work illustrated the efficacy of the employed methodology in conducting thorough geological analyses and strongly advocates for its application in analogous studies in arid environments.
Crosado embalming related alterations in the morpho-mechanics of collagen rich tissues
Authors: Tomlinson Joanna , Scholze Mario , Ondruschka Benjamin , Hammer Niels , Zwirner Johann 
Published: February 2025

Abstract
Crosado-embalming has been successfully used as embalming technique in research and teaching for over 20 years. It is applied in biomechanical testing experiments if the fresh tissues are unavailable, e.g., for cultural, ethical, logistical or health and safety reasons. However, features of human Crosado-embalmed tissues biomechanical characteristics including its load-deformation properties in comparison to fresh tissues and its controllability through hydration fluids may be insightful and therefore need to be studied further. This study compared the uniaxial load-deformation properties and the cross-sectional area (CSA) measurements of fresh-frozen and Crosado-embalmed collagen-rich tissues, namely the iliotibial band (ITB, 16 unembalmed and 35 embalmed specimens) and cranial dura mater (DM, 60 unembalmed cadavers, and 25 embalmed specimens). The water content of 120 Crosado-embalmed ITB samples (30 cadavers) were analysed considering established rehydration treatments, including polyethylene glycol (PEG). Crosado-embalmed tissues presented an increased elastic modulus (EM) (all p < 0.050; e.g., Crosado ITB PEG only 306 ± 91 MPa vs. fresh-frozen ITB PEG only 108 ± 31 MPa; mean ± standard deviation; p < 0.001) and ultimate tensile strength (UTS) (e.g., Crosado ITB PEG only 46 ± 15 MPa vs. fresh-frozen ITB PEG only 21 ± 8 MPa; p < 0.001) when rehydrated similar to the fresh tissues. The maximum force was different for the dura mater (Crosado 25 ± 13 N vs. fresh 21 ± 20 N; mean ± standard deviation; p = 0.050) but not for the ITB. The CSA following rehydration in PEG only was decreased for Crosado-embalmed samples (3.4 ± 1.2mm2, ITB; 1.1 ± 0.5 mm2, DM) compared to fresh-frozen (5.8 ± 2.1mm2, ITB; 3.1 ± 1.2mm2, DM) (all p ≤ 0.003). Furthermore, rehydration effects were observed following 24 h of PEG treatment (untreated tissues, 49 ± 9% vs. PEG only, 77 ± 4%; p < 0.001), in comparison to fresh samples (69%) tissues were hyperhydrated. In conclusion, Crosado-embalming appears to alter collagen-rich tissues’ morphological and mechanical properties. While an increase in material properties of Crosado-embalmed tissues was observed (Emod and UTS), the overall load-bearing capacity and peak structural strength remained unaltered for ITB tissues. This may result from CSA-related, geometric or molecular alterations after the fixative and osmotic water protocols related to changes in the collagen backbone and water-binding capacity.
Relative improvement in language vs. motor functions with reperfusion therapies for large vessel occlusion
Authors: Ahmed Zaka , Yedavalli Vivek , Gonzalez Wladimir Sarmiento , Hillis Argye E. 
Published: February 2025

Abstract
When weighing potential risks versus benefits of reperfusion therapy, the functions likely to recover if blood flow can be restored should be considered. Because deep and motor areas often infarct relatively early in acute stroke, we hypothesized that reperfusion therapies improve predominantly cortical functions more than motor function. In this retrospective review of a prospectively collected database of patients with acute stroke due to large vessel occlusion, we evaluated percent improvement (mean change in score/maximum score) for different items of the National Institutes of Health Score Scale with and without endovascular thrombectomy (EVT), and/or intravenous thrombolysis. In total, 290 patients met the inclusion criteria. For all outcome measures there were significant effects of treatment group (p < 0.0001 for all), with the greatest change in the EVT + thrombolysis group, then EVT only group, followed by thrombolysis only, followed by no intervention. Differences between EVT + thrombolysis and EVT only were not significant (p = 0.30 to 0.79 across outcomes). For patients with aphasia and/or right sided weakness before treatment, the percent change in language was significantly greater than the percent change in weakness (29.8% vs. 12.7%; t(93) = 5.3;p < 0.0001). Greater percent improvement in language was observed in all treatment groups (p = 0.0003 to 0.03 across treatment groups). After acute ischemic stroke due to LVO, improvements occur in all neurological functions with intervention. However, gains in language are even greater than gains in motor function in the same patients. Few patients had neglect before treatment, but of those who did, the majority improved, and most (92.8%) with EVT.
Frequency reconfigurable PIN diode-based Reuleaux-triangle-shaped monopole antenna for UWB/Ku band applications
Authors: Bayer Keskin Sena Esen , Koziel Slawomir , Szczepanski Stanislaw 
Published: February 2025

Abstract
This paper presents a frequency reconfigurable monopole antenna developed for UWB/Ku band applications. The design employs a microstrip-fed Reuleaux-triangle-shaped patch with a defected ground structure. The antenna exhibits a wide operating bandwidth achieved due to rectangular slits integrated into the Reuleaux-triangle patch. Meanwhile, adding rectangular slots in the ground plane improves the return loss level. Frequency reconfigurability is obtained by utilizing PIN diodes to adjust the current distribution, altering the antenna’s electrical length via the capacitive and inductive effects induced by the rings near the feed line. The antenna operates in two distinct frequency bands, 2.68–8.55 GHz and 12.7–15.65 GHZ, contingent upon the PIN-diodes’ ON/OFF states. In the OFF state, the antenna covers the UWB region, in particular, the ISM band (5.8 GHz), WLAN band (5.2 GHz), and lower X-band (8 GHz), exhibiting a 10 dB impedance bandwidth from 2.68 to 8.55 GHz with a maximum gain of 2.36 dBi. In the ON state, the antenna functions in the Ku band (12.7–15.65 GHz) with gains from 2.63 to 3.85 dBi. The antenna’s dynamic switching between UWB and Ku band operations makes it suitable for applications such as satellite communications, health monitoring, 5G, aerospace, and remote sensing.
X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model
Authors: Huang Lily , Simonian Rebecca , Lopez Michael A , Karuppasamy Muthukumar , Sanders Veronica M , English Katherine G , Fabian Lacramioara , Alexander Matthew S , Dowling James J 
Published: February 2025

Abstract
X-linked myopathy with excessive autophagy (XMEA), a rare childhood-onset autophagic vacuolar myopathy caused by mutations in VMA21, is characterized by proximal muscle weakness and progressive vacuolation. VMA21 encodes a protein chaperone of the vacuolar hydrogen ion ATPase, the loss of which leads to lysosomal neutralization and impaired function. At present, there is an incomplete understanding of XMEA, its mechanisms, consequences on other systems, and therapeutic strategies. A significant barrier to advancing knowledge and treatments is the lack of XMEA animal models. Therefore, we used CRISPR-Cas9 editing to engineer a loss-of-function mutation in zebrafish vma21. The vma21 mutant zebrafish phenocopy the human disease with impaired motor function and survival, liver dysfunction, and dysregulated autophagy indicated by lysosomal de-acidification, the presence of characteristic autophagic vacuoles in muscle fibers, altered autophagic flux, and reduced lysosomal marker staining. As proof-of-concept, we found that two drugs, edaravone and LY294002, improve swim behavior and survival. In total, we generated and characterized a novel preclinical zebrafish XMEA model and demonstrated its suitability for studying disease pathomechanisms and identifying potential therapeutic targets.