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Artykuły w czasopismach na temat „Optical replication mapping”

Autor: Grafiati

Data publikacji: 5 października 2024

Data aktualizacji: 31 lipca 2025

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1

Wang, Weitao, Kyle N. Klein, Karel Proesmans, et al. "Genome-wide mapping of human DNA replication by optical replication mapping supports a stochastic model of eukaryotic replication." Molecular Cell 81, no. 14 (2021): 2975–88. http://dx.doi.org/10.1016/j.molcel.2021.05.024.

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Lacroix, Joris, Sandrine Pélofy, Charline Blatché, et al. "Analysis of DNA Replication by Optical Mapping in Nanochannels." Small 12, no. 43 (2016): 5963–70. http://dx.doi.org/10.1002/smll.201503795.

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Bayard, Quentin, Pierre Cordier, Camille Péneau, et al. "Structure, Dynamics, and Impact of Replication Stress–Induced Structural Variants in Hepatocellular Carcinoma." Cancer Research 82, no. 8 (2022): 1470–81. http://dx.doi.org/10.1158/0008-5472.can-21-3665.

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Abstract Oncogene activation leads to replication stress and promotes genomic instability. Here we combine optical mapping and whole-genome sequencing (WGS) to explore in depth the nature of structural variants (SV) induced by replication stress in cyclin-activated hepatocellular carcinomas (CCN-HCC). In addition to classical tandem duplications, CCN-HCC displayed frequent intra-chromosomal and interchromosomal templated insertion cycles (TIC), likely resulting from template switching events. Template switching preferentially involves active topologically associated domains that are proximal t

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Rhind, Nick, Weitao Wang, Kyle Klein, et al. "Single‐Molecule Optical Replication Mapping (ORM) Suggests Human Replication Timing is Regulated by Stochastic Initiation." FASEB Journal 34, S1 (2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.03352.

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Bayard, Quentin, Pierre Cordier, Camille Péneau, et al. "Abstract LB545: Structure, dynamics and consequences of replication stress-induced structural variants in hepatocellular carcinoma." Cancer Research 82, no. 12_Supplement (2022): LB545. http://dx.doi.org/10.1158/1538-7445.am2022-lb545.

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Abstract Oncogene activation leads to replication stress and promotes genomic instability. Here we combine optical mapping and whole genome sequencing to explore in-depth the nature of structural variants (SVs) induced by replication stress in cyclin-activated hepatocellular carcinomas (CCN-HCC). In addition to classical tandem duplications, CCN-HCC display frequent intra- and inter-chromosomal templated insertion cycles (TIC) likely resulting from template switching events. Template switching preferentially involves active topologically associated domains that are close in the 3D genome organ

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Brewer, Bonita J., Maitreya J. Dunham, and M. K. Raghuraman. "A unifying model that explains the origins of human inverted copy number variants." PLOS Genetics 20, no. 1 (2024): e1011091. http://dx.doi.org/10.1371/journal.pgen.1011091.

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With the release of the telomere-to-telomere human genome sequence and the availability of both long-read sequencing and optical genome mapping techniques, the identification of copy number variants (CNVs) and other structural variants is providing new insights into human genetic disease. Different mechanisms have been proposed to account for the novel junctions in these complex architectures, including aberrant forms of DNA replication, non-allelic homologous recombination, and various pathways that repair DNA breaks. Here, we have focused on a set of structural variants that include an inver

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Li, Guozhuang, Nan Wu, Jen Ghabrial, et al. "Chromoanagenesis in Osteosarcoma." Biomolecules 15, no. 6 (2025): 833. https://doi.org/10.3390/biom15060833.

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Chromoanagenesis is a catastrophic genomic phenomenon involving sudden, extensive rearrangements within one or a few cell cycles. In osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, these events dramatically alter the genomic landscape, frequently disrupting key tumor suppressor genes like TP53 and RB1, amplifying oncogene expression, and propelling tumor progression and evolution. This review elucidates how key chromoanagenic mechanisms, such as chromothripsis and chromoanasynthesis, arise from replication stress and impaired DNA repair pathways, ultimately c

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8

De Carli, Francesco, Nikita Menezes, Wahiba Berrabah, Valérie Barbe, Auguste Genovesio, and Olivier Hyrien. "High-Throughput Optical Mapping of Replicating DNA." Small Methods 2, no. 9 (2018): 1800146. http://dx.doi.org/10.1002/smtd.201800146.

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Atkinson, Noah, Tyler A. Morhart, Garth Wells, et al. "Microfabrication Process Development for a Polymer-Based Lab-on-Chip Concept Applied in Attenuated Total Reflection Fourier Transform Infrared Spectroelectrochemistry." Sensors 23, no. 14 (2023): 6251. http://dx.doi.org/10.3390/s23146251.

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Micro electro-mechanical systems (MEMS) combining sensing and microfluidics functionalities, as are common in Lab-on-Chip (LoC) devices, are increasingly based on polymers. Benefits of polymers include tunable material properties, the possibility of surface functionalization, compatibility with many micro and nano patterning techniques, and optical transparency. Often, additional materials, such as metals, ceramics, or silicon, are needed for functional or auxiliary purposes, e.g., as electrodes. Hybrid patterning and integration of material composites require an increasing range of fabricatio

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Fearns, Rachel, Mark E. Peeples, and Peter L. Collins. "Mapping the Transcription and Replication Promoters of Respiratory Syncytial Virus." Journal of Virology 76, no. 4 (2002): 1663–72. http://dx.doi.org/10.1128/jvi.76.4.1663-1672.2002.

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ABSTRACT An important, unresolved issue in mononegavirus biology is whether or not transcription is initiated by the same promoter as RNA replication. In this study, residues important for respiratory syncytial virus (RSV) transcription and RNA replication were identified by subjecting the first 26 nucleotides of genome RNA to saturation mutagenesis. This analysis was performed using a genome analog that allowed transcription and RNA replication to be dissociated from each other and monitored as independent events in an intracellular assay. This analysis showed that nucleotides 3C, 5C, 8U, 9U,

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11

Sung, Yen-Ling, Yuan-Si Tsai, Chu-Ling Chang, Chih-Kuan Chen, Chih-Hua Wang, and Yi-Chun Lin. "(Invited) Cardiac Engineering: Optical Mapping in Cellular Communication." ECS Meeting Abstracts MA2024-01, no. 33 (2024): 1652. http://dx.doi.org/10.1149/ma2024-01331652mtgabs.

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Microfluidic platforms have emerged as valuable tools for replicating the adverse effects of chemotherapy drugs on cardiac and non-cardiac cells in vitro. However, these systems currently fall short of comprehensively capturing the intricate nature of human responses to chemotherapy, necessitating further validation to enhance model accuracy. While innovative chip systems provide insightful means for screening cardiac toxicity, they encounter challenges in addressing individual variations in drug responses and the influence of patient-specific factors. A novel cardiac chip incorporating intrac

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12

Lambertini, Alessandro, Emanuele Mandanici, Maria Alessandra Tini, and Luca Vittuari. "Technical Challenges for Multi-Temporal and Multi-Sensor Image Processing Surveyed by UAV for Mapping and Monitoring in Precision Agriculture." Remote Sensing 14, no. 19 (2022): 4954. http://dx.doi.org/10.3390/rs14194954.

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Precision Agriculture (PA) is an approach to maximizing crop productivity in a sustainable manner. PA requires up-to-date, accurate and georeferenced information on crops, which can be collected from different sensors from ground, aerial or satellite platforms. The use of optical and thermal sensors from Unmanned Aerial Vehicle (UAV) platform is an emerging solution for mapping and monitoring in PA, yet many technological challenges are still open. This technical note discusses the choice of UAV type and its scientific payload for surveying a sample area of 5 hectares, as well as the procedure

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Perez, Daniel R., and Ruben O. Donis. "Functional Analysis of PA Binding by Influenza A Virus PB1: Effects on Polymerase Activity and Viral Infectivity." Journal of Virology 75, no. 17 (2001): 8127–36. http://dx.doi.org/10.1128/jvi.75.17.8127-8136.2001.

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ABSTRACT Influenza A virus expresses three viral polymerase (P) subunits—PB1, PB2, and PA—all of which are essential for RNA and viral replication. The functions of P proteins in transcription and replication have been partially elucidated, yet some of these functions seem to be dependent on the formation of a heterotrimer for optimal viral RNA transcription and replication. Although it is conceivable that heterotrimer subunit interactions may allow a more efficient catalysis, direct evidence of their essentiality for viral replication is lacking. Biochemical studies addressing the molecular a

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14

Raseley, Kaitlin, Zeal Jinwala, Dong Zhang, and Ming Xiao. "Single-Molecule Telomere Assay via Optical Mapping (SMTA-OM) Can Potentially Define the ALT Positivity of Cancer." Genes 14, no. 6 (2023): 1278. http://dx.doi.org/10.3390/genes14061278.

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Telomeres play an essential role in protecting the ends of linear chromosomes and maintaining the integrity of the human genome. One of the key hallmarks of cancers is their replicative immortality. As many as 85–90% of cancers activate the expression of telomerase (TEL+) as the telomere maintenance mechanism (TMM), and 10–15% of cancers utilize the homology-dependent repair (HDR)-based Alternative Lengthening of Telomere (ALT+) pathway. Here, we performed statistical analysis of our previously reported telomere profiling results from Single Molecule Telomere Assay Optical Mapping (SMTA-OM), w

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15

M, Abhinaya, and A. Umamakeswari. "A Robust Image Watermarking Method based on Contourlet Transform for Correcting Geometric Attacks." International Journal of Engineering & Technology 7, no. 2.24 (2018): 24. http://dx.doi.org/10.14419/ijet.v7i2.24.11992.

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A watermarking technique is proposed using Discrete Wavelet Transform (DWT), Discrete Cosine Transform (DCT), and Singular Value Decomposition (SVD) techniques to implement information hiding. Embedding can be done by dividing the host image into four rectangular segments which are non-overlapping called sub-images using hybrid scheme. Redundancy reduces cropping attack. The main aim is to reduce the effect of geometric bouts, such as rotation, translation, and affine translation using synchronization technique. Watermarks can be a binary random sequence of different lengths. Data replication

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16

Zuo, Pengcheng, Dong Ma, Qingbo Liu, Lizhong Jiang, and Yang Chen. "Photonics-assisted microwave pulse detection and frequency measurement based on pulse replication and frequency-to-time mapping." Applied Optics 61, no. 7 (2022): 1639. http://dx.doi.org/10.1364/ao.450247.

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Ball, Heather L., Mark R. Ehrhardt, Daniel A. Mordes, Gloria G. Glick, Walter J. Chazin, and David Cortez. "Function of a Conserved Checkpoint Recruitment Domain in ATRIP Proteins." Molecular and Cellular Biology 27, no. 9 (2007): 3367–77. http://dx.doi.org/10.1128/mcb.02238-06.

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ABSTRACT The ATR (ATM and Rad3-related) kinase is essential to maintain genomic integrity. ATR is recruited to DNA lesions in part through its association with ATR-interacting protein (ATRIP), which in turn interacts with the single-stranded DNA binding protein RPA (replication protein A). In this study, a conserved checkpoint protein recruitment domain (CRD) in ATRIP orthologs was identified by biochemical mapping of the RPA binding site in combination with nuclear magnetic resonance, mutagenesis, and computational modeling. Mutations in the CRD of the Saccharomyces cerevisiae ATRIP ortholog

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Nuñez, Estefanía, Irene Orera, Lorena Carmona-Rodríguez, José Ramón Paño, Jesús Vázquez, and Fernando J. Corrales. "Mapping the Serum Proteome of COVID-19 Patients; Guidance for Severity Assessment." Biomedicines 10, no. 7 (2022): 1690. http://dx.doi.org/10.3390/biomedicines10071690.

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Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), whose outbreak in 2019 led to an ongoing pandemic with devastating consequences for the global economy and human health. According to the World Health Organization, COVID-19 has affected more than 481 million people worldwide, with 6 million confirmed deaths. The joint efforts of the scientific community have undoubtedly increased the pace of production of COVID-19 vaccines, but there is still so much uncharted ground to cover regarding the mechanisms of SARS-CoV-2 infection, replicat

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Ganzel, Chezi, Yishai Ofran, Bayan Alyan, et al. "Templated Insertion Mediates Generation of p190 BCR/ABL Facilitating CML Heterogeneity Uniquely Detected By Optical Genome Mapping." Blood 144, Supplement 1 (2024): 6577. https://doi.org/10.1182/blood-2024-209728.

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Philadelphia chromosome (Ph) a hallmark of chronic myeloid leukemia (CML), is a result of reciprocal translocation t(9;22) generating aberrant persistently activate oncogenic tyrosine- kinase (BCR/ABL1) facilitating leukemogenesis. It was demonstrated that simultaneous breakages of two different chromosomes within BCR and ABL1 loci, serve as an oncogenic initiation of Ph+ leukemia. Thus, recurrency of Ph and other translocations in hematopoietic stem cells indicates that chromosomal instability (CIN) is leading pathogenetics of leukemogenesis. Surprisingly, despite established diagnostic metho

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Schuster, Peter. "From Self-Organization to Evolution of RNA Molecules: The Origin of Biological Information." Solid State Phenomena 97-98 (April 2004): 27–36. http://dx.doi.org/10.4028/www.scientific.net/ssp.97-98.27.

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Autocatalytic chemical reactions may lead to spatio-temporal patterns if processed under non-equilibrium conditions. The patterns disappear when the conditions change and information stored in these non-equilibrium structures is lost since precise reconstructions are impossible. Replication of molecules, in particular of polynucleotides RNA or DNA, is an autocatalytic process too. The storage of information in polynucleotide sequences, however, allows for reconstruction of the molecules under suitable conditions. Conservation of information in polymer sequences constitutes the basic difference

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Yang, Jui-Pin, and Hui-Kai Su. "Integrated Resource Management for Fog Networks." Sensors 22, no. 6 (2022): 2404. http://dx.doi.org/10.3390/s22062404.

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In this paper, we consider integrated resource management for fog networks inclusive of intelligent energy perception, service level agreement (SLA) planning and replication-based hotspot offload (RHO). In the beginning, we propose an intelligent energy perception scheme which dynamically classifies the fog nodes into a hot set, a warm set or a cold set, based on their load conditions. The fog nodes in the hot set are responsible for a quality of service (QoS) guarantee and the fog nodes in the cold set are maintained at a low-energy state to save energy consumption. Moreover, the fog nodes in

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Tsanas, Athanasios, Max A. Little, Patrick E. McSharry, and Lorraine O. Ramig. "Nonlinear speech analysis algorithms mapped to a standard metric achieve clinically useful quantification of average Parkinson's disease symptom severity." Journal of The Royal Society Interface 8, no. 59 (2010): 842–55. http://dx.doi.org/10.1098/rsif.2010.0456.

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The standard reference clinical score quantifying average Parkinson's disease (PD) symptom severity is the Unified Parkinson's Disease Rating Scale (UPDRS). At present, UPDRS is determined by the subjective clinical evaluation of the patient's ability to adequately cope with a range of tasks. In this study, we extend recent findings that UPDRS can be objectively assessed to clinically useful accuracy using simple, self-administered speech tests, without requiring the patient's physical presence in the clinic. We apply a wide range of known speech signal processing algorithms to a large databas

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Mujiyo, M., Yosua Yoga Setyawan, Aktavia Herawati, and Hery Widijanto. "The effect of land use on soil quality in Giriwoyo Sub-district, Wonogiri Regency." Journal of Degraded and Mining Lands Management 8, no. 2 (2020): 2559–68. http://dx.doi.org/10.15243/jdmlm.2021.082.2559.

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Determination of soil quality in Giriwoyo Sub-district, Wonogiri Regency, will generate a Soil Quality Index which can be used as a reference for soil cultivation for optimal productivity. This research was a descriptive exploratory with a survey approach. The survey area consisted of 12 land mapping units (LMU) with 3 replications for each LMU. Determination of LMU based on soil type, land use, slope and rainfall. The parameters used were BD (bulk density), porosity, organic C, pH, CEC (cation exchange capacity), BS (base saturation), available P, available K, total N, and MBC (microbial biom

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Klostermann, André. "Does the Simon Effect Interfere with the Synergy Between Perception and Action?" Perceptual and Motor Skills 128, no. 4 (2021): 1765–84. http://dx.doi.org/10.1177/00315125211022917.

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Research suggests that – particularly – the execution of precision-demanding far-aiming tasks necessitates an optimal coupling between perception and action. In this regard, the duration of the last fixation before initiating movement – i.e., the Quiet Eye (QE) – has been functionally related to subsequent motor performance. In the current study, we investigated potential mechanisms of QE by applying the Simon paradigm – i.e., cognitive interferences evoked by stimulus-effect incompatibilities over response selection. To this end, we had participants throw balls as precisely as possible, eithe

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Slapničar, Gašper, Jie Su, and Wenjin Wang. "Fundamental and Practical Feasibility of Electrocardiogram Reconstruction from Photoplethysmogram." Sensors 24, no. 7 (2024): 2100. http://dx.doi.org/10.3390/s24072100.

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Electrocardiogram (ECG) reconstruction from contact photoplethysmogram (PPG) would be transformative for cardiac monitoring. We investigated the fundamental and practical feasibility of such reconstruction by first replicating pioneering work in the field, with the aim of assessing the methods and evaluation metrics used. We then expanded existing research by investigating different cycle segmentation methods and different evaluation scenarios to robustly verify both fundamental feasibility, as well as practical potential. We found that reconstruction using the discrete cosine transform (DCT)

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Cavey, Andrew M. J., Jonathan M. Spector, Derek Ehrhardt, et al. "Mississippi's Infectious Disease Hotline: A Surveillance and Education Model for Future Disasters." Prehospital and Disaster Medicine 24, no. 1 (2009): 11–17. http://dx.doi.org/10.1017/s1049023x00006488.

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AbstractIntroduction:The potential for outbreaks of epidemic disease among displaced residents was a significant public health concern in the aftermath of Hurricane Katrina. In response, the Mississippi Department of Health (MDH) and the American Red Cross (ARC) implemented a novel infectious disease surveillance system, in the form of a telephone “hotline”, to detect and rapidly respond to health threats in shelters.Methods:All ARC-managed shelters in Mississippi were included in the surveillance system. A symptom-based, case reporting method was developed and distributed to shelter staff, wh

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Go, Young-Ho, Seung-Hwan Lee, and Sung-Hak Lee. "Multiexposed Image-Fusion Strategy Using Mutual Image Translation Learning with Multiscale Surround Switching Maps." Mathematics 12, no. 20 (2024): 3244. http://dx.doi.org/10.3390/math12203244.

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The dynamic range of an image represents the difference between its darkest and brightest areas, a crucial concept in digital image processing and computer vision. Despite display technology advancements, replicating the broad dynamic range of the human visual system remains challenging, necessitating high dynamic range (HDR) synthesis, combining multiple low dynamic range images captured at contrasting exposure levels to generate a single HDR image that integrates the optimal exposure regions. Recent deep learning advancements have introduced innovative approaches to HDR generation, with the

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Stefansson, Petter, Fredrik Karlsson, Magnus Persson, and Carl Magnus Olsson. "Synthetic Generation of Passive Infrared Motion Sensor Data Using a Game Engine." Sensors 21, no. 23 (2021): 8078. http://dx.doi.org/10.3390/s21238078.

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Quantifying the number of occupants in an indoor space is useful for a wide variety of applications. Attempts have been made at solving the task using passive infrared (PIR) motion sensor data together with supervised learning methods. Collecting a large labeled dataset containing both PIR motion sensor data and ground truth people count is however time-consuming, often requiring one hour of observation for each hour of data gathered. In this paper, a method is proposed for generating such data synthetically. A simulator is developed in the Unity game engine capable of producing synthetic PIR

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Schouten, Girmi, Wouter Jansen, and Jan Steckel. "Simulation of Pulse-Echo Radar for Vehicle Control and SLAM." Sensors 21, no. 2 (2021): 523. http://dx.doi.org/10.3390/s21020523.

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Pulse-echo sensing is the driving principle behind biological echolocation as well as biologically-inspired sonar and radar sensors. In biological echolocation, a single emitter sends a self-generated pulse into the environment which reflects off objects. A fraction of these reflections are captured by two receivers as echoes, from which information about the objects, such as their position in 3D space, can be deduced by means of timing, intensity and spectral analysis. This is opposed to frequency-modulated continuous-wave radar, which analyses the shift in frequency of the returning signal t

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Ciardo, Diletta, Olivier Haccard, Francesco de Carli, Olivier Hyrien, Arach Goldar, and Kathrin Marheineke. "Dual DNA replication modes: varying fork speeds and initiation rates within the spatial replication program in Xenopus." Nucleic Acids Research 53, no. 3 (2025). https://doi.org/10.1093/nar/gkaf007.

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Abstract Large vertebrate genomes duplicate by activating tens of thousands of DNA replication origins, irregularly spaced along the genome. The spatial and temporal regulation of the replication process is not yet fully understood. To investigate the DNA replication dynamics, we developed a methodology called RepliCorr, which uses the spatial correlation between replication patterns observed on stretched single-molecule DNA obtained by either DNA combing or high-throughput optical mapping. The analysis revealed two independent spatiotemporal processes that regulate the replication dynamics in

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Avanthi, Rupasinghe, and Jayatissa Prabath. "Review on Single DNA Sequencing." October 19, 2017. https://doi.org/10.5281/zenodo.7683901.

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Single DNA sequencing is a powerful technique that allows researchers to obtain detailed information about individual DNA molecules, rather than sequencing a population of DNA molecules in bulk. This approach offers several advantages over bulk sequencing, including detecting rare variants, resolving haplotypes, and studying the dynamics of DNA replication and repair at the single-molecule level. There are several techniques for single DNA sequencing, including single-molecule real-time sequencing (SMRT), nanopore sequencing, and optical mapping. Single DNA sequencing has numerous applications

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Badshah, Fazal, Kalim U. Tariq, Ahmed Henaish, and Junaid Akhtar. "On some soliton structures for the perturbed nonlinear Schrödinger equation with Kerr law nonlinearity in mathematical physics." Mathematical Methods in the Applied Sciences, December 19, 2023. http://dx.doi.org/10.1002/mma.9837.

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The most important physical structure that is assumed to illustrate the geometry of optical soliton replication in optical fiber theory is the nonlinear Schrödinger equation (NLSE). Optical soliton generation in nonlinear optical fibers is a topic of great contemporary interest because of the numerous applications of ultrafast signal routing systems and short light pulses in communications. This analysis's main goal is to create a large number of soliton solutions for the dynamical model using a variety of contemporary analytical methods. This paper studies different soliton solutions to the p

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Singh, Manrose, Kaitlin Raseley, Alexis M. Perez, et al. "Elucidation of the molecular mechanism of the breakage-fusion-bridge (BFB) cycle using a CRISPR-dCas9 cellular model." Nucleic Acids Research, August 28, 2024. http://dx.doi.org/10.1093/nar/gkae747.

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Abstract Chromosome instability (CIN) is frequently observed in many tumors. The breakage-fusion-bridge (BFB) cycle has been proposed to be one of the main drivers of CIN during tumorigenesis and tumor evolution. However, the detailed mechanism for the individual steps of the BFB cycle warrants further investigation. Here, we demonstrate that a nuclease-dead Cas9 (dCas9) coupled with a telomere-specific single-guide RNA (sgTelo) can be used to model the BFB cycle. First, we show that targeting dCas9 to telomeres using sgTelo impedes DNA replication at telomeres and induces a pronounced increas

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Xu, Yi, Meiling Xie, and Shuhui Xiong. "Application of Virtual Reality Technology in Historical and Cultural Landscape Reproduction." Applied Mathematics and Nonlinear Sciences 9, no. 1 (2024). http://dx.doi.org/10.2478/amns-2024-1583.

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Abstract Virtual reality panoramic technology transcends the constraints of time and space, offering audiences immersive visual and auditory experiences that diminish the costs associated with exploring historical and cultural landscapes and enhance communication effectiveness. This study employs fisheye cameras to capture panoramic images of such landscapes. The collected images undergo correction via spherical projection and reflective planar unfolding mapping. Subsequently, an enhanced method for optimal stitching line selection is applied to ensure seamless transitions between spliced imag

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Ginter, Jacob A., Sarah Beaudry, Natalya Guseva, Jaime Nagy, Aaron A. Stence, and Alpa Sidhu. "Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature." American Journal of Medical Genetics Part A, December 23, 2024. https://doi.org/10.1002/ajmg.a.63969.

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ABSTRACTTriplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4‐month‐old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q. Optical genome mapping (OGM) was performed to further characterize the triplication. We compared the clinical features of our proband with previous case reports of individuals with duplications or triplications in the region to identify a phenotype.

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Bashit, Abdullah Al, Prakash Nepal, Theresa Connors, et al. "Mapping the Spatial Distribution of Fibrillar Polymorphs in Human Brain Tissue." Frontiers in Neuroscience 16 (June 1, 2022). http://dx.doi.org/10.3389/fnins.2022.909542.

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Alzheimer’s disease (AD) is a neurodegenerative disorder defined by the progressive formation and spread of fibrillar aggregates of Aβ peptide and tau protein. Polymorphic forms of these aggregates may contribute to disease in varying ways since different neuropathologies appear to be associated with different sets of fibrillar structures and follow distinct pathological trajectories that elicit characteristic clinical phenotypes. The molecular mechanisms underlying the spread of these aggregates in disease may include nucleation, replication, and migration all of which could vary with polymor

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Liu, Liang, Wangqi Mao, Xinyu Gao, et al. "Vertically Aligned Perovskite Laser Arrays for High‐Capacity Anticounterfeiting Labels." Laser & Photonics Reviews, December 15, 2023. http://dx.doi.org/10.1002/lpor.202301006.

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AbstractPhysically unclonable functions (PUFs) have emerged as the most effective method against counterfeiting, leveraging the intrinsic randomness of objects to avoid data replication. However, despite their efficacy, the complexity and high cost of most PUF‐based counterfeiting labels hinder their practical application. Here, a high‐capacity PUF label based on vertically aligned perovskite nanowire (NW) arrays is demonstrated. The NW arrays are conveniently constructed using a low‐cost solution process using an anodized aluminum oxide template. Each pixel within the label is composed of clo

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Vincent, Kathleen L., Patrice A. Frost, Massoud Motamedi, et al. "High-Resolution Quantitative Mapping of Macaque Cervicovaginal Epithelial Thickness: Implications for Mucosal Vaccine Delivery." Frontiers in Immunology 12 (June 28, 2021). http://dx.doi.org/10.3389/fimmu.2021.660524.

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Vaginal mucosal surfaces naturally offer some protection against sexually transmitted infections (STIs) including Human Immunodeficiency Virus-1, however topical preventative medications or vaccine designed to boost local immune responses can further enhance this protection. We previously developed a novel mucosal vaccine strategy using viral vectors integrated into mouse dermal epithelium to induce virus-specific humoral and cellular immune responses at the site of exposure. Since vaccine integration occurs at the site of cell replication (basal layer 100-400 micrometers below the surface), t

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Garrott, Kara E., Anastasia Wengrowski, Hanyu Zhang, Jack Rogers, and Matthew Kay. "Abstract 401: Shortening of Action Potential Duration With Increased Work in Contracting Rabbit Heart." Circulation Research 117, suppl_1 (2015). http://dx.doi.org/10.1161/res.117.suppl_1.401.

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Studying heart function in contracting hearts at higher workloads provides crucial knowledge of cardiac performance in high-stress situations. Ratiometric optical mapping of fully loaded hearts is a novel method to study electrical activity while replicating in vivo energy consumption. We predict that an imbalance between energy supply and demand during increased work and hypoxia will manifest in shortened action potential duration (APD), especially in the more physiologically-relevant bi-ventricular (BiV) working heart. Rabbit hearts were perfused with oxygenated Krebs-Henseleit solution in u

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Schirmeisen, Kamila, Karel Naiman, Karine Fréon, et al. "SUMO protease and proteasome recruitment at the nuclear periphery differently affect replication dynamics at arrested forks." Nucleic Acids Research, June 25, 2024. http://dx.doi.org/10.1093/nar/gkae526.

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Abstract Nuclear pore complexes (NPCs) have emerged as genome organizers, defining a particular nuclear compartment enriched for SUMO protease and proteasome activities, and act as docking sites for the repair of DNA damage. In fission yeast, the anchorage of perturbed replication forks to NPCs is an integral part of the recombination-dependent replication restart mechanism (RDR) that resumes DNA synthesis at terminally dysfunctional forks. By mapping DNA polymerase usage, we report that SUMO protease Ulp1-associated NPCs ensure efficient initiation of restarted DNA synthesis, whereas proteaso

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Kaur, Satwinder, and Mehak Aggarwal. "Extended Balanced Scheduler with Clustering and Rep- lication for Data Intensive Scientific Workflow Applications in Cloud Computing." Journal of Electronic Research and Application 2, no. 3 (2018). http://dx.doi.org/10.26689/jera.v2i3.380.

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Cloud computing is an advance computing model using which several applications, data and countless IT services are provided over the Internet. Task scheduling plays a crucial role in cloud computing systems. The issue of task scheduling can be viewed as the finding or searching an optimal mapping/assignment of set of subtasks of different tasks over the available set of resources so that we can achieve the desired goals for tasks. With the enlargement of users of cloud the tasks need to be scheduled. Cloudâ€™s performance depends on the task scheduling algorithms used. Numerous algorithms have

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Rubiola, Andrea, Steven Cunnington, and Stefano Camera. "Baryon acoustic oscillations from H i intensity mapping: The importance of cross-correlations in the monopole and quadrupole." Monthly Notices of the Royal Astronomical Society, September 6, 2022. http://dx.doi.org/10.1093/mnras/stac2484.

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Abstract Cosmological parameter estimation in the post-reionisation era via neutral hydrogen radio emission (H i), is among the key science goals of the forthcoming SKA Observatory (SKAO). This paper explores detection capability for baryon acoustic oscillations (BAO) with a suite of 100 simulations introducing the main limitations from foreground contamination and poor angular resolution caused by the radio telescope beam. Such broad single-dish beam representing a serious challenge for BAO detection with H i intensity mapping, we investigate a multipole expansion approach as a means for miti

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van Agteren, Joep, Matthew Iasiello, Kathina Ali, et al. "Using the Intervention Mapping Approach to Develop a Mental Health Intervention: A Case Study on Improving the Reporting Standards for Developing Psychological Interventions." Frontiers in Psychology 12 (October 5, 2021). http://dx.doi.org/10.3389/fpsyg.2021.648678.

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Replicating or distilling information from psychological interventions reported in the scientific literature is hindered by inadequate reporting, despite the existence of various methodologies to guide study reporting and intervention development. This article provides an in-depth explanation of the scientific development process for a mental health intervention, and by doing so illustrates how intervention development methodologies can be used to improve development reporting standards of interventions. Intervention development was guided by the Intervention Mapping approach and the Theoretic

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Sharif, Limi, Shelytia Cocroft, Shawna N. Smith, et al. "Development of an implementation intervention to promote adoption of the COMFORT clinical practice guideline for peripartum pain management: a qualitative study." Implementation Science Communications 6, no. 1 (2025). https://doi.org/10.1186/s43058-024-00687-5.

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Abstract Background Pain management after childbirth is widely variable, increasing risk of untreated pain, opioid harms, and inequitable experiences of care. The Creating Optimal Pain Management FOR Tailoring Care (COMFORT) clinical practice guideline (CPG) seeks to promote evidence-based, equitable acute peripartum pain management in the United States. We aimed to identify contextual conditions (i.e., barriers and facilitators) and discrete implementation strategies (i.e., theory-based actions taken to routinize a clinical practice) likely to influence COMFORT CPG uptake and specify correspo

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Cunningham, Liam O., Aravinda Ganapathy, Cihat Eldeniz, et al. "3D printed vitamin D impregnated catheters for magnetic resonance-guided interventions: proof of concept and imaging characteristics." 3D Printing in Medicine 11, no. 1 (2025). https://doi.org/10.1186/s41205-025-00273-y.

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Abstract Background Catheters used for magnetic resonance (MR)-guided interventions require intra-catheter coils and often produce artifacts. This study aimed to fabricate 3D-printed catheters impregnated with vitamin D solution to allow for optimal visualization during MR-guided procedures. Methods 3D printing was used to fabricate catheters impregnated with vitamin D solution. Computer-aided design files were generated for a size 18 French catheter prototype with a compartment for vitamin D solution to be manually introduced into the catheter’s lumen and sealed via thermoplastic welding. Pol

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Jassim, Hussam Hameed, Hassan Ali Nedaie, Nooshin Banaee, Ghazale Geraily, Ali Kazemian, and Danial Seifi Makrani. "Evaluation of the geometric and dosimetric accuracies of deformable image registration of targets and critical organs in prostate CBCT‐guided adaptive radiotherapy." Journal of Applied Clinical Medical Physics, September 13, 2024. http://dx.doi.org/10.1002/acm2.14490.

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AbstractPurposeKilovoltage cone beam computed tomography (kVCBCT)‐guided adaptive radiation therapy (ART) uses daily deformed CT (dCT), which is generated automatically through deformable registration methods. These registration methods may perform poorly in reproducing volumes of the target organ, rectum, and bladder during treatment. We analyzed the registration errors between the daily kVCBCTs and corresponding dCTs for these organs using the default optical flow algorithm and two registration procedures. We validated the effectiveness of these registration methods in replicating the geomet

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