Emerging evidence suggests an intricate genetic architecture in motor neuron diseases (MNDs), inv... more Emerging evidence suggests an intricate genetic architecture in motor neuron diseases (MNDs), involving not only monogenic causes but also, to varying extents, risk alleles and oligogenic or polygenic contributions [1-3]. The potential for shared genetic risk across related diseases has motivated us to examine the contributions of rare variants in canonical and non-canonical diseaseassociated genes in a group of MNDs to understand the † Gang Wu and Michael Benatar contributed equally.
Table S4 from Impact of Genetic Ancestry on Genomics and Survival Outcomes in T-cell Acute Lymphoblastic Leukemia
<p>T-cell Acute Lymphoblastic Leukemia Pathway Alterations by Categorical Genetic Ancestry&... more <p>T-cell Acute Lymphoblastic Leukemia Pathway Alterations by Categorical Genetic Ancestry</p>
Th1 cells reduce the osteoblast-like phenotype in valvular interstitial cells by inhibiting NLRP3 inflammasome activation in macrophages
Molecular Medicine, 2024
Background and aims Inflammation is initiates the propagation phase of aortic valve calcification... more Background and aims Inflammation is initiates the propagation phase of aortic valve calcification. The activation of NLRP3 signaling in macrophages plays a crucial role in the progression of calcific aortic valve stenosis (CAVS). IFN-γ regulates NLRP3 activity in macrophages. This study aimed to explore the mechanism of IFN-γ regulation and its impact on CAVS progression and valve interstitial cell transdifferentiation. Methods and results The number of Th1 cells and the expression of IFN-γ and STAT1 in the aortic valve, spleen and peripheral blood increased significantly as CAVS progressed. To explore the mechanisms underlying the roles of Th1 cells and IFN-γ, we treated CAVS mice with IFN-γ-AAV9 or an anti-IFN-γ neutralizing antibody. While IFN-γ promoted aortic valve calcification and dysfunction, it significantly decreased NLRP3 signaling in splenic macrophages and Ly6C + monocytes. In vitro coculture showed that Th1 cells inhibited NLPR3 activation in ox-LDL-treated macrophages...
Multi-Level Decomposition and Interpretability-Enhanced Air Conditioning Load Forecasting Study
Energies, 2024
This study seeks to improve the accuracy of air conditioning load forecasting to address the chal... more This study seeks to improve the accuracy of air conditioning load forecasting to address the challenges of load management in power systems during high-temperature periods in the summer. Given the limitations of traditional forecasting models in capturing different frequency components and noise within complex load sequences, this paper proposes a multi-level decomposition forecasting model using complete ensemble empirical mode decomposition with adaptive noise (CEEMDAN), sample entropy (SE), variational mode decomposition (VMD), and long short-term memory (LSTM). First, CEEMDAN is used for the preliminary decomposition of the raw air-conditioning load series, with modal components aggregated by sample entropy to generate high-, medium-, and low-frequency subsequences. VMD then performs a secondary decomposition on the high-frequency subsequence to reduce its complexity, while LSTM is applied to each subsequence for prediction. The final prediction result of the air-conditioning lo...
The role of astrocytes in Alzheimer’s disease: a bibliometric analysis
Frontiers in Aging Neuroscience, 2024
Background Alzheimer’s disease (AD) is a neurodegenerative disorder marked by cognitive decline a... more Background Alzheimer’s disease (AD) is a neurodegenerative disorder marked by cognitive decline and memory loss. Recent research underscores the crucial role of astrocytes in AD. This study reviews research trends and contributions on astrocytes in AD from 2000 to 2024, shedding light on the evolving research landscape. Methods We conducted a bibliometric analysis using data from the Web of Science Core Collection, covering publications from January 1, 2000, to July 6, 2024, on “Alzheimer’s disease” and “astrocytes.” We identified 5,252 relevant English articles and reviews. For data visualization and analysis, we used VOSviewer, CiteSpace, and the R package “bibliometrix,” examining collaboration networks, co-citation networks, keyword co-occurrence, and thematic evolution. Results Between 2000 and 2024, 5,252 publications were identified, including 4,125 original research articles and 1,127 review articles. Publications increased significantly after 2016. The United States had the...
E3 Siah ubiquitin ligase regulates dichotomous spermatogenesis in Sitotroga cerealella
Frontiers in Cell and Developmental Biology, 2025
Spermatogenesis in Lepidoptera holds significant importance due to its unique process of dichotom... more Spermatogenesis in Lepidoptera holds significant importance due to its unique process of dichotomous spermatogenesis, yielding eupyrene and apyrene spermatozoa through a complex molecular mechanism. While E3 ubiquitin ligases are known to play vital roles in spermatogenesis across various processes, their functions in dichotomous spermatogenesis remain less known. We utilized the RNAi, biochemical and microscopic procedures to unravel the function of ScE3 Siah in dichotomous spermatogenesis of adult Sitotroga cerealella . In S . cerealella E3 ligase Siah predominantly expressed in adult tissues. Knockdown of ScE3 Siah leads to disruptions in testes and sperm morphology, affecting the structure of eupyrene and apyrene sperm bundles and causing defective ultrastructure in eupyrene sperm. This disruption results in a reduction in the number of dichotomous sperms and significantly reduces their motility. Moreover, ScE3 Siah knockdown inhibits the transfer and motility of dichotomous spe...
ChatASD: LLM-Based AI Therapist for ASD
Communications in computer and information science, 2024
MDB-10. Divergent Medulloblastoma Chromatin States Disclose KDM2B as a Novel Oncogenic Dependency
Neuro-oncology, Jun 18, 2024
Multi-sequence MRI-based radiomics: An objective method to diagnose early-stage osteonecrosis of the femoral head
This paper discusses the results of the third edition of the Monocular Depth Estimation Challenge... more This paper discusses the results of the third edition of the Monocular Depth Estimation Challenge (MDEC). The challenge focuses on zero-shot generalization to the challenging SYNS-Patches dataset, featuring complex scenes in natural and indoor settings. As with the previous edition, methods can use any form of supervision, i.e. supervised or self-supervised. The challenge received a total of 19 submissions outperforming the baseline on the test set: 10 among them submitted a report describing their approach, highlighting a diffused use of foundational models such as Depth Anything at the core of their method. The challenge winners drastically improved 3D F-Score performance, from 17.51% to 23.72%.
Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that accounts for for 10-15% of... more Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that accounts for for 10-15% of childhood lymphomas. Despite the observation that more than 90% of pediatric cases harbor the anaplastic lymphoma kinase (ALK) rearrangement resulting in aberrant ALK kinase expression, there is significant clinical, morphologic, and biological heterogeneity. To gain insights into the genomic aberrations and molecular heterogeneity within ALK-positive ALCL(ALK+ ALCL), we analyzed 46 pediatric ALK+ ALCLs by whole-exome sequencing, RNA-sequencing, and DNA methylation profiling. Whole-exome sequencing found on average 25 SNV/Indel events per sample with recurring genetic events in regulators of DNA damage (TP53, MDM4), transcription (JUNB), and epigenetic regulators (TET1, KMT2B, KMT2A, KMT2C, KMT2E). Gene expression and methylation profiling consistently subclassified ALK+ ALCLs into two groups characterized by diferential ALK expression levels. The ALK-low group showed enrichment of path...
Proceedings of the ... AAAI Conference on Artificial Intelligence, Mar 24, 2024
Contrastive learning has emerged as a prevailing paradigm for high-level vision tasks, which, by ... more Contrastive learning has emerged as a prevailing paradigm for high-level vision tasks, which, by introducing properly negative samples, has also been exploited for low-level vision tasks to achieve a compact optimization space to account for their ill-posed nature. However, existing methods rely on manually predefined and task-oriented negatives, which often exhibit pronounced task-specific biases. To address this challenge, our paper introduces an innovative method termed 'learning from history', which dynamically generates negative samples from the target model itself. Our approach, named Model Contrastive Learning for Image Restoration (MCLIR), rejuvenates latency models as negative models, making it compatible with diverse image restoration tasks. We propose the Self-Prior guided Negative loss (SPN) to enable it. This approach significantly enhances existing models when retrained with the proposed model contrastive paradigm. The results show significant improvements in image restoration across various tasks and architectures. For example, models retrained with SPN outperform the original FFANet and DehazeFormer by 3.41 and 0.57 dB on the RESIDE indoor dataset for image dehazing. Similarly, they achieve notable improvements of 0.47 dB on SPA-Data over IDT for image deraining and 0.12 dB on Manga109 for a 4× scale super-resolution over lightweight SwinIR, respectively. Code and retrained models are available at .
Machine learning to optimize automated RH genotyping using whole-exome sequencing data
Blood advances, Mar 24, 2024
Vulnerable brain regions in adolescent major depressive disorder: A resting-state functional magnetic resonance imaging activation likelihood estimation meta-analysis
World journal of psychiatry, Mar 19, 2024
Interaction between host G3BP and viral nucleocapsid protein regulates SARS-CoV-2 replication and pathogenicity
Cell reports, Mar 1, 2024
G3BP1/2 are paralogous proteins that promote stress granule formation in response to cellular str... more G3BP1/2 are paralogous proteins that promote stress granule formation in response to cellular stresses, including viral infection. The nucleocapsid (N) protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) inhibits stress granule assembly and interacts with G3BP1/2 via an ITFG motif, including residue F17, in the N protein. Prior studies examining the impact of the G3PB1-N interaction on SARS-CoV-2 replication have produced inconsistent findings, and the role of this interaction in pathogenesis is unknown. Here, we use structural and biochemical analyses to define the residues required for G3BP1-N interaction and structure-guided mutagenesis to selectively disrupt this interaction. We find that N-F17A mutation causes highly specific loss of interaction with G3BP1/2. SARS-CoV-2 N-F17A fails to inhibit stress granule assembly in cells, has decreased viral replication, and causes decreased pathology in vivo. Further mechanistic studies indicate that the N-F17-mediated...
Metabolic reprogramming of cancer cells by JMJD6-mediated pre-mRNA splicing associated with therapeutic response to splicing inhibitor
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