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Emergence of functionally differentiated structures via mutual information minimization in recurrent neural networks. 递归神经网络中基于互信息最小化的功能分化结构的出现。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2025-11-14 DOI: 10.1007/s11571-025-10377-0
Yuki Tomoda, Ichiro Tsuda, Yutaka Yamaguti

Functional differentiation in the brain emerges as distinct regions specialize and is key to understanding brain function as a complex system. Previous research has modeled this process using artificial neural networks with specific constraints. Here, we propose a novel approach that induces functional differentiation in recurrent neural networks by minimizing mutual information between neural subgroups via mutual information neural estimation. We apply our method to a 2-bit working memory task and a chaotic signal separation task involving Lorenz and Rössler time series. Analysis of network performance, correlation patterns, and weight matrices reveals that mutual information minimization yields high task performance alongside clear functional modularity and moderate structural modularity. Importantly, our results show that functional differentiation, which is measured through correlation structures, emerges earlier than structural modularity defined by synaptic weights. This suggests that functional specialization precedes and probably drives structural reorganization within developing neural networks. Our findings provide new insights into how information-theoretic principles may govern the emergence of specialized functions and modular structures during artificial and biological brain development.

大脑的功能分化是不同区域的专门化,是理解大脑功能作为一个复杂系统的关键。先前的研究使用具有特定约束的人工神经网络对这一过程进行了建模。在这里,我们提出了一种新的方法,通过互信息神经估计最小化神经子群之间的互信息来诱导递归神经网络的功能分化。我们将该方法应用于2位工作记忆任务和涉及Lorenz和Rössler时间序列的混沌信号分离任务。对网络性能、相关模式和权重矩阵的分析表明,相互信息最小化可以产生高任务性能以及清晰的功能模块化和适度的结构模块化。重要的是,我们的研究结果表明,通过相关结构测量的功能分化比由突触权重定义的结构模块化更早出现。这表明功能专门化先于并可能推动发展中的神经网络的结构重组。我们的研究结果为信息理论原理如何控制人工和生物大脑发育过程中专门功能和模块化结构的出现提供了新的见解。
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引用次数: 0
Advancing bone tissue engineering: anisotropic performance of poly(lactic-co-glycolic acid) (PLGA) composites with nano-calcium sulphate (nCS) and fucoidan (fu). 推进骨组织工程:纳米硫酸钙(nCS)和岩藻聚糖(fu)聚乳酸-羟基乙酸(PLGA)复合材料的各向异性性能。
IF 4.5 3区 生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2026-12-01 Epub Date: 2026-01-02 DOI: 10.1080/21691401.2025.2582447
Norshazliza Ab Ghani, Mohammed Rafiq Abdul Kadir, Sathiya Maran, Izdihar Kamal, Muhammad Khalis Abdul Karim, Mohd Hafiz Mohd Zaid, Hanumanth Rao Balaji Raghavendran, Muhammad Hanif Ramlee, Tunku Kamarul Zaman, Muhammad Imam Ammarullah

This study investigates the anisotropic properties of three different poly(lactic-co-glycolic acid) (PLGA)-based materials: PLGA with nano-calcium sulphate (nCS), PLGA with fucoidan (fu) and PLGA with both nCS and fu. Using finite element analysis (FEA), the study explores their potential applications in bone tissue engineering. Anisotropy, or the directional dependency of mechanical properties, is critical in designing biomaterials for bone regeneration due to the complex, hierarchical structure of natural bone. The objective was to evaluate the mechanical behaviour of each composite material under simulated physiological conditions, focusing on their anisotropic responses to loading. The findings indicate that PLGA-nCS exhibited the highest degree of anisotropy, with enhanced stiffness and strength along preferred load-bearing directions, making it suitable for applications requiring higher mechanical stability. In contrast, PLGA-nCS-fu demonstrated moderate mechanical strength but displayed isotropic behaviour, ensuring consistent compressive performance across all directions. The study highlights the synergistic effects of incorporating nCS and fu into PLGA-based materials. fu, a natural sulphated polysaccharide derived from brown seaweed, significantly enhances the biological performance of these composites.

本研究研究了三种不同的聚乳酸-羟基乙酸(PLGA)基材料的各向异性:纳米硫酸钙(nCS)的PLGA、褐藻糖聚糖(fu)的PLGA和纳米硫酸钙和fu的PLGA。利用有限元分析(FEA),探讨其在骨组织工程中的潜在应用。由于天然骨的复杂、分层结构,各向异性或机械性能的方向依赖性对于设计用于骨再生的生物材料至关重要。目的是评估每种复合材料在模拟生理条件下的力学行为,重点关注它们对载荷的各向异性响应。研究结果表明,PLGA-nCS表现出最高程度的各向异性,在首选承重方向上具有增强的刚度和强度,使其适合需要更高机械稳定性的应用。相比之下,PLGA-nCS-fu表现出中等的机械强度,但表现出各向同性,确保在所有方向上保持一致的压缩性能。该研究强调了将nCS和fu纳入plga基材料的协同效应。Fu是一种从褐藻中提取的天然硫酸盐多糖,可以显著提高这些复合材料的生物性能。
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引用次数: 0
EEG emotion recognition based on hierarchical multi-scale graph neural networks. 基于层次多尺度图神经网络的脑电情感识别。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2025-12-26 DOI: 10.1007/s11571-025-10396-x
Wenjuan Gu, Junxiang Peng, Shiying Ma, Xin Li, Yang Zou

With the development of emotion recognition technology in various applications, studies based on EEG signals were carried out as they can directly reflect brain activity. Although existing graph neural network (GNN) methods have made some progress in processing EEG signals, they still face significant limitations in capturing complex spatiotemporal dependencies, avoiding over-smoothing, and handling cross-regional brain signal interactions, which impact the accuracy and robustness of emotion recognition. To address these problems, this paper proposes a Hierarchical Multi-Scale Graph Neural Network (HMSGNN). This method enhances the spatiotemporal feature modeling ability of EEG signals by extracting features at multiple levels, from local to global, thus improving the accuracy and robustness of emotion recognition. Experimental results show that HMSGNN achieves recognition accuracies of 98.67% and 85.72% in subject-dependent experiments on the SEED and SEED-IV datasets, and 87.11% and 76.14% in subject-independent experiments, respectively. Under the reproduced experimental settings, these values are the highest among the compared methods, while maintaining comparable or lower variance.

随着情绪识别技术在各种应用中的发展,基于脑电图信号的研究得以开展,因为脑电图信号可以直接反映大脑的活动。尽管现有的图神经网络(GNN)方法在处理脑电信号方面取得了一定的进展,但在捕捉复杂的时空依赖性、避免过度平滑、处理跨区域脑信号交互等方面仍存在很大的局限性,影响了情绪识别的准确性和鲁棒性。为了解决这些问题,本文提出了一种层次多尺度图神经网络(HMSGNN)。该方法通过从局部到全局的多层次特征提取,增强了脑电信号的时空特征建模能力,从而提高了情绪识别的准确性和鲁棒性。实验结果表明,在SEED和SEED- iv数据集上,HMSGNN在科目相关实验中的识别准确率分别为98.67%和85.72%,在科目独立实验中的识别准确率分别为87.11%和76.14%。在重复实验设置下,这些值是比较方法中最高的,同时保持相当或更低的方差。
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引用次数: 0
Discrete memristive spiking neural networks: investigating information flow, synchronization, and emergent intelligence. 离散记忆尖峰神经网络:调查信息流、同步和紧急智能。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2025-11-25 DOI: 10.1007/s11571-025-10384-1
Shaobo He, Jiawei Xiao, Yuexi Peng, Huihai Wang

The processing of information within complex neural networks is a challenge topic that has intrigued researchers for many years. In this paper, we conducted an in-depth investigation into the learning mechanisms that are intrinsic to discrete memristor spiking neural networks. We also explored the effectiveness of information transmission and synchronization among various neurons and networks. Firstly, a memristor model with memory regulation function and tanh function's nonlinear characteristics was constructed. This model not only ensures that the internal state variables of the memristor do not exhibit divergence, but also demonstrates that this memristor is suitable for spiking signal processing and has the ability to transmit spiking signals. Secondly, our research delved into the intricate dynamics of these discrete spiking neural networks, including the ternary coupled spiking neural network and ring coupled spiking neural network, aiming to shed light on how they operate and interact. Thirdly, based on the designed pulse neurons, this study constructed a simple pulse neuron network. By reasonably setting the relevant parameters, the research found that this network possesses the ability for pattern recognition. The results of our investigation are crucial for understanding the mechanisms of information processing and synchronization phenomena within neural networks. It provides valuable insights into the potential of memristor networks in advancing artificial intelligence and computational neuroscience.

复杂神经网络中的信息处理是一个具有挑战性的话题,多年来一直吸引着研究人员。在本文中,我们对离散记忆电阻尖峰神经网络固有的学习机制进行了深入的研究。我们还探讨了不同神经元和网络之间信息传递和同步的有效性。首先,建立了具有记忆调节函数和tanh函数非线性特性的忆阻器模型。该模型不仅保证了忆阻器内部状态变量不发散,而且证明了该忆阻器适合于尖峰信号处理,具有传输尖峰信号的能力。其次,我们的研究深入研究了这些离散尖峰神经网络的复杂动力学,包括三元耦合尖峰神经网络和环耦合尖峰神经网络,旨在揭示它们是如何运作和相互作用的。第三,在设计脉冲神经元的基础上,构建简单的脉冲神经元网络。通过合理设置相关参数,研究发现该网络具有模式识别的能力。我们的研究结果对于理解神经网络中信息处理和同步现象的机制至关重要。它为记忆电阻网络在推进人工智能和计算神经科学方面的潜力提供了有价值的见解。
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引用次数: 0
Saccadic eye movements based classification of patients with obsessive-compulsive disorder, patients with schizophrenia and healthy controls using artificial neural networks. 基于跳眼运动的强迫症患者、精神分裂症患者和健康对照的人工神经网络分类。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2026-02-03 DOI: 10.1007/s11571-026-10414-6
Maria-Nikoletta Koliaraki, Nikolaos Smyrnis, Pantelis Asvestas, George K Matsopoulos, Errikos-Chaim Ventouras

Intrusive saccades during active visual fixation indicate deficits in inhibitory control which is crucial for cognitive control function. Research has shown that abnormalities in these mechanisms are linked to neurological disorders such as schizophrenia and obsessive-compulsive disorder (OCD), both involving dysfunctions in frontal-subcortical circuits. Eye movement studies and machine learning (ML) techniques have been used to differentiate clinical from neurotypical populations. This study aimed to classify healthy controls, patients with OCD and schizophrenia patients, based on oculomotor behavior during active fixation tasks and provide insights into related neurophysiological mechanisms. Data from three visual fixation tasks were analyzed using statistical tests to select saccade features to be used in the classification. A shallow Artificial Neural Network (ANN) was implemented for binary and three-class classification. Binary classification achieved 87% accuracy and 93% specificity in distinguishing controls from the patients with schizophrenia group, 84% accuracy and 90% sensitivity in distinguishing between controls and medicated patients with OCD not taking antipsychotics, while differentiation between patients with schizophrenia and medicated patients with OCD not taking antipsychotics reached 77% accuracy and 82% specificity. The findings provided indications that selected saccadic features can differentiate OCD and schizophrenia patients from healthy controls using shallow ANNs, while distinguishing between OCD and schizophrenia patients remains more challenging. Notably, tentative indications were provided that group differences were driven more by intrinsic saccadic generation properties than by fixation or inhibitory mechanisms, concerning unwanted saccades that are intrusive in nature in the context of fixation.

主动式视觉注视时的侵入性扫视表明抑制控制的缺陷,而抑制控制对认知控制功能至关重要。研究表明,这些机制的异常与精神分裂症和强迫症(OCD)等神经系统疾病有关,两者都涉及额叶-皮层下回路的功能障碍。眼动研究和机器学习(ML)技术已被用于区分临床和神经典型人群。本研究旨在根据强迫症患者和精神分裂症患者在主动注视任务中的动眼肌行为对健康对照进行分类,并为相关的神经生理机制提供见解。采用统计检验对三个视觉注视任务的数据进行分析,以选择用于分类的扫视特征。采用浅层人工神经网络(ANN)进行二分类和三分类。二元分类区分对照组与精神分裂症患者的准确率为87%,特异性为93%;区分对照组与服药未服用抗精神病药物的强迫症患者的准确率为84%,敏感性为90%;区分精神分裂症患者与服药未服用抗精神病药物的强迫症患者的准确率为77%,特异性为82%。研究结果表明,选择的跳眼特征可以使用浅神经网络将强迫症和精神分裂症患者与健康对照区分开来,但区分强迫症和精神分裂症患者仍然更具挑战性。值得注意的是,初步迹象表明,群体差异更多是由内在的眼跳产生特性驱动的,而不是由注视或抑制机制驱动的,这涉及到在注视的背景下,不必要的眼跳在本质上是侵入性的。
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引用次数: 0
Responses of fast-spiking basket cells to theta-modulated oscillatory synaptic input. 快速脉冲篮状细胞对theta调制振荡突触输入的反应。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2026-02-06 DOI: 10.1007/s11571-026-10418-2
Ming Liu, Xiaojuan Sun

Fast-spiking basket cells (FSBCs) govern hippocampal oscillations through their rapid and sustained firing patterns, which drive rhythmic inhibition onto postsynaptic neurons, thereby enforcing population synchrony in the gamma and other frequency bands that support cognitive processes. Despite the established role of FSBCs in hippocampal oscillations, the precise mechanisms by which their dendrites influence membrane potential responses across different frequency bands remain unclear. In this study, we simulate oscillation-like input protocols to explore how dendrites modulate the spectral responses of the membrane potentials of FSBCs. Our results show that FSBCs exhibit both slow and fast oscillatory components, which are shaped by their action potentials. Input synchrony is essential for determining both the fast-band response frequency and its coupling with the slow frequency, while the neuron's intrinsic firing dynamics maintain the stability of the fast-band peak frequency across theta-range inputs. Although dendritic Na[Formula: see text]/A-type K[Formula: see text] channel blockade and cp-AMPA enhancement both increase fast-band frequency, they differentially affect phase-amplitude coupling, with blockade reducing and cp-AMPA enhancement increasing it, highlighting the role of intrinsic dendritic conductances and cp-AMPA inputs in promoting coupling. Furthermore, we show that the spatial distribution of synaptic inputs along dendrites affects the response frequencies, with distinct frequencies observed at different dendritic locations according to their electrotonic distance. These findings provide insights into how the intrinsic properties of FSBCs influence their response to oscillatory inputs.

Supplementary information: The online version contains supplementary material available at 10.1007/s11571-026-10418-2.

快速脉冲篮状细胞(fsbc)通过其快速和持续的放电模式控制海马振荡,这种模式驱动突触后神经元的节律抑制,从而加强伽马和其他支持认知过程的频段的群体同步。尽管fsbc在海马振荡中的作用已经确立,但其树突影响不同频段膜电位反应的确切机制仍不清楚。在这项研究中,我们模拟了类似振荡的输入协议,以探索树突如何调节fsbc膜电位的光谱响应。我们的研究结果表明,fsbc具有慢速和快速振荡成分,这是由它们的动作电位决定的。输入同步对于确定快带响应频率及其与慢速频率的耦合至关重要,而神经元的内在放电动力学维持了整个θ范围输入的快带峰值频率的稳定性。虽然树突Na[公式:见文]/ a型K[公式:见文]通道阻断和cp-AMPA增强都增加了快带频率,但它们对相幅耦合的影响是不同的,阻断降低了相幅耦合,cp-AMPA增强增加了相幅耦合,突出了树突固有电导和cp-AMPA输入对耦合的促进作用。此外,我们发现突触输入沿树突的空间分布影响响应频率,根据它们的电紧张距离,在不同的树突位置观察到不同的频率。这些发现为fsbc的内在特性如何影响其对振荡输入的响应提供了见解。补充信息:在线版本包含补充资料,下载地址:10.1007/s11571-026-10418-2。
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引用次数: 0
Critical behaviors of modular networks under local excitatory-inhibitory fluctuations. 局部兴奋-抑制波动下模块网络的临界行为。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2025-11-14 DOI: 10.1007/s11571-025-10374-3
Chuanzuo Yang, Zhao Liu, Guoming Luan, Jingli Ren

Numerous physiological observations have shown that the brain operates at the edge of a critical state between order and disorder. Meanwhile, brain structures at different scales, from cortical columns to the entire brain, are organized in a modular manner. However, whether modular brain networks represent the optimized structure shaped for criticality and in what ways, have not been fully answered. In this study, a modular network with dense intra-module links but sparse inter-module links is established, and the behavior of each neuron is governed by the Kinouchi-Copelli model. Moreover, randomized surrogate networks with identical degree distribution are introduced to illustrate the significance of modular structures for criticality. Results suggest that the modular network requires fewer synaptic resources and lower firing costs to achieve criticality. More importantly, smaller avalanches indicate that the modular structures can enhance network resilience, facilitating rapid recovery from perturbations. Furthermore, by testing the sensitivity of the network state to local excitatory-inhibitory fluctuations, it is found that the efficiency of excitatory and inhibitory regulation is closely related to the 2-level excitatory input density. In addition, inhibitory regulation targeting modules with larger maximum real eigenvalues can more effectively suppress hyperexcitatory activities to achieve balance. When local excitation is greatly enhanced, even if the modular network is adjusted to the critical state, the size-to-duration ratio of module-level avalanches can effectively capture abnormalities. The properties also manifest in clinical recordings from patients with temporal lobe epilepsy, which may provide a promising method for epileptogenic zone localization.

大量的生理观察表明,大脑在有序和无序之间的临界状态的边缘运行。同时,不同尺度的大脑结构,从皮质柱到整个大脑,都以模块化的方式组织起来。然而,模块化大脑网络是否代表了为临界状态而形成的优化结构,以及以何种方式,还没有得到充分的回答。在本研究中,建立了一个模块内连接密集而模块间连接稀疏的模块化网络,每个神经元的行为由Kinouchi-Copelli模型控制。此外,还引入了具有同度分布的随机代理网络来说明模块化结构对临界性的重要性。结果表明,模块化网络需要更少的突触资源和更低的放电成本来达到临界状态。更重要的是,较小的雪崩表明模块化结构可以增强网络弹性,促进从扰动中快速恢复。此外,通过测试网络状态对局部兴奋-抑制波动的敏感性,发现兴奋和抑制调节的效率与2级兴奋输入密度密切相关。此外,最大实特征值较大的抑制性调控靶向模块可以更有效地抑制高兴奋性活动,达到平衡。当局部激励大大增强时,即使将模块网络调整到临界状态,模块级雪崩的大小与持续时间之比也能有效捕获异常。这些特性在颞叶癫痫患者的临床记录中也有体现,这可能为癫痫区定位提供了一种有前途的方法。
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引用次数: 0
Novel contrastive representation learning of epileptic electroencephalogram for seizure detection. 用于癫痫发作检测的新型对比表征学习。
IF 3.9 3区 工程技术 Q2 NEUROSCIENCES Pub Date : 2026-12-01 Epub Date: 2025-11-24 DOI: 10.1007/s11571-025-10352-9
Jie Wang, Yingchao Wang, Qilin Tang, Xianlei Zeng, Defu Zhai, Han Xiao, Weiwei Nie, Qi Yuan

Detecting seizures automatically is crucial for diagnosing and treating epilepsy, substantially benefiting affected patients. Various deep learning models and methods have been developed to automatically extract features from electroencephalogram (EEG) data for detecting seizures, but may often fail to adequately capture the significant periodic and semi-periodic dynamics in EEG signals, thus incompletely representing the extracted features. To address this challenge, we here introduced a novel EEG feature learning framework named ContrLF. This framework combines a contrastive learning framework and the Floss method to improve EEG feature learning for epileptic seizure detection. In our methodology, initially, both strong and weak augmentation are applied to transform the original EEG data into two distinct yet correlated views. Then, Floss is employed to automatically detect and learn the primary periodic dynamics within the augmented EEG data, capturing meaningful periodic representations that are essential for understanding seizure patterns in EEG signals. In parallel, the augmented EEG data were sequentially processed through temporal and contextual contrasting modules, which are designed to learn robust feature representations of the EEG signals. Finally, a Support Vector Machine (SVM) classifier was used to evaluate the effectiveness of the EEG features extracted using our proposed framework. Experimental results generated using both scalp and intracranial electroencephalogram (iEEG) datasets revealed that the proposed framework achieves over 90% accuracy, sensitivity, and specificity in detecting seizures. The framework outperforms other state-of-the-art methods, demonstrating its superiority in both cross-patient and specific-patient seizure detection.

自动检测癫痫发作对于癫痫的诊断和治疗至关重要,这对受影响的患者有很大的好处。人们已经开发了各种深度学习模型和方法来自动从脑电图(EEG)数据中提取特征以检测癫痫发作,但往往不能充分捕捉脑电图信号中重要的周期性和半周期性动态,从而不能完全代表提取的特征。为了解决这一挑战,我们在这里引入了一种新的EEG特征学习框架,名为controlf。该框架结合了对比学习框架和Floss方法,改进了脑电图特征的学习,用于癫痫发作检测。在我们的方法中,首先使用强增强和弱增强将原始EEG数据转换为两个不同但相关的视图。然后,使用Floss自动检测和学习增强的脑电图数据中的主要周期动态,捕获有意义的周期表示,这对于理解脑电图信号中的癫痫发作模式至关重要。同时,通过时间对比和上下文对比模块对增强的脑电数据进行顺序处理,以学习脑电信号的鲁棒特征表示。最后,利用支持向量机(SVM)分类器对所提框架提取的脑电特征进行有效性评价。使用头皮和颅内脑电图(iEEG)数据集生成的实验结果显示,所提出的框架在检测癫痫发作方面达到90%以上的准确性、灵敏度和特异性。该框架优于其他最先进的方法,证明了其在跨患者和特定患者癫痫检测方面的优势。
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引用次数: 0
Cross-talk between diabetic nephropathy and bone loss: PBMCs-guided discovery of NLRP3-inflammatory signalling. 糖尿病肾病与骨质流失之间的相互作用:pbmcs引导下nlrp3炎症信号的发现。
IF 4.5 3区 生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2026-12-01 Epub Date: 2025-12-26 DOI: 10.1080/21691401.2025.2603849
Qiang Zhang, Yue Wang, Xiao Ning Lin, Yong Cheng Xu, Miao Xu, Xuan Lin, Yue Lai, Huan Liu, Jian Lin Shen

Diabetic nephropathy (DN), a major driver of end-stage kidney disease, elevates the risk for osteoporosis (OP) and its clinical precursor, low bone mineral density (low BMD), indicating broader systemic effects. While peripheral blood mononuclear cells (PBMCs) participate in both conditions, their common mechanisms remain poorly understood. This study aimed to identify common biomarkers and pathways linking DN to OP/low BMD by analyzing transcriptomic datasets from patients with these conditions. Using weighted gene co-expression network analysis (WGCNA), machine learning, and differential expression validation, we identified NLRP3 as a central hub gene. Functional analyses connected NLRP3 to pro-inflammatory pathways and immune cell activation. Single-cell data showed specific NLRP3 overexpression in DN patient macrophages, which exhibited heightened osteoclast differentiation capability. Protein analysis confirmed elevated NLRP3 levels in DN cases. In conclusion, PBMCs from DN patients with comorbid osteoporosis show upregulated NLRP3 expression and inflammasome activation, which may drive systemic inflammation and bone loss. These results clarify the pathological link between DN and OP/low BMD and highlight NLRP3 as a potential diagnostic marker and therapeutic target.

糖尿病肾病(DN)是终末期肾脏疾病的主要驱动因素,可增加骨质疏松症(OP)及其临床前兆低骨密度(低BMD)的风险,表明其具有更广泛的全身性影响。虽然外周血单核细胞(PBMCs)参与了这两种情况,但它们的共同机制仍然知之甚少。本研究旨在通过分析这些疾病患者的转录组数据集,确定DN与OP/低BMD之间的共同生物标志物和途径。通过加权基因共表达网络分析(WGCNA)、机器学习和差异表达验证,我们确定NLRP3是一个中心枢纽基因。功能分析将NLRP3与促炎途径和免疫细胞激活联系起来。单细胞数据显示特异性NLRP3在DN患者巨噬细胞中过表达,表现出增强的破骨细胞分化能力。蛋白分析证实DN患者NLRP3水平升高。综上所述,DN合并骨质疏松患者的PBMCs显示NLRP3表达上调和炎症小体激活,这可能导致全身炎症和骨质流失。这些结果阐明了DN与OP/低BMD之间的病理联系,并突出了NLRP3作为潜在的诊断标志物和治疗靶点。
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引用次数: 0
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay. 检测致病的新的内含子剪接变异在KIDINS220基因导致运动发育迟缓。
IF 4.5 3区 生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2026-12-01 Epub Date: 2026-01-11 DOI: 10.1080/21691401.2026.2612914
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang

Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of KIDINS220 gene (NM_020738.4), c.4054-2A > G and c.4054-7T > C, in a female patient presenting with motor dysfunction and developmental delay. Brain MRI revealed delayed myelination. To investigate whether these intronic variants cause aberrant splicing and affect protein expression, we sequenced KIDINS220 cDNA from peripheral blood and concurrently performed a minigene splicing assay. The results indicated that KIDINS220 was not expressed in PBMCs. However, the minigene assay demonstrated that the c.4054-2A > G variant causes an in-frame 336-bp deletion in exon 30, resulting in a 112-amino acid deletion in the C-terminal region of KIDINS220 (p.(Ser1352_Ser1463del)). In contrast, the c.4054-7T > C variant did not disrupt normal splicing. Based on the patient's clinical features and functional validation of the genetic variants, our paediatricians established a diagnosis of mild motor dysfunction and developmental delay. Our findings broaden the spectrum of pathogenic variants underlying KIDINS220-related disorders and provide essential information for genetic counselling.

KIDINS220基因的致病变异可引起SINO综合征(OMIM #617296)、VENARG综合征(OMIM #619501)或其他神经和代谢疾病,如肥胖和眼球震颤。我们在一名表现为运动功能障碍和发育迟缓的女性患者中发现了KIDINS220基因(NM_020738.4)内含子29中的两个新的内含子变异,C .4054- 2a > G和C .4054- 7t > C。脑部MRI显示髓鞘形成延迟。为了研究这些内含子变异是否会导致异常剪接并影响蛋白表达,我们对来自外周血的KIDINS220 cDNA进行了测序,并同时进行了小基因剪接实验。结果表明,KIDINS220在PBMCs中不表达。然而,minigene分析表明,c.4054-2A b> G变异导致帧内336 bp的外显子缺失,导致KIDINS220的c端区域缺失112个氨基酸(p.(Ser1352_Ser1463del))。相比之下,C .4054- 7t >c变体没有破坏正常剪接。根据患者的临床特征和基因变异的功能验证,我们的儿科医生诊断为轻度运动功能障碍和发育迟缓。我们的发现拓宽了kidins220相关疾病的致病变异范围,并为遗传咨询提供了必要的信息。
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