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View article: Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy Open
View article: Tamibarotene promotes differentiation of neuroblastoma SH-SY5Y cells into neurons, which is associated with activation of the PI3K/AKT signaling pathway
Tamibarotene promotes differentiation of neuroblastoma SH-SY5Y cells into neurons, which is associated with activation of the PI3K/AKT signaling pathway Open
Tamibarotene, a synthetic retinoid used in the treatment of acute promyelocytic leukemia, has been reported to induce differentiation in the SH-SY5Y cell line into neurons. However, the underlying mechanisms remain unclear. This study aime…
View article: Proteome‐Wide and Immune Cell Phenotype Mendelian Randomization Highlights Immune Involvement in Genetic Generalized Epilepsy
Proteome‐Wide and Immune Cell Phenotype Mendelian Randomization Highlights Immune Involvement in Genetic Generalized Epilepsy Open
Introduction Genetic generalized epilepsy (GGE) involves polygenic inheritance, with emerging evidence implicating immune mechanisms in seizure pathogenesis. Unlike previous studies focusing on inflammation following seizures, we employed …
View article: Toward Safe and Human-Aligned Game Conversational Recommendation via Multi-Agent Decomposition
Toward Safe and Human-Aligned Game Conversational Recommendation via Multi-Agent Decomposition Open
Conversational recommender systems (CRS) have advanced with large language models, showing strong results in domains like movies. These domains typically involve fixed content and passive consumption, where user preferences can be matched …
View article: Effects of the Small‐Molecule <scp>ISRIB</scp> on the Rapid and Efficient Myelination of Oligodendrocytes in Human Stem Cell‐Derived Cerebral Organoids in Patients With Leukoencephalopathy With Vanishing White Matter
Effects of the Small‐Molecule <span>ISRIB</span> on the Rapid and Efficient Myelination of Oligodendrocytes in Human Stem Cell‐Derived Cerebral Organoids in Patients With Leukoencephalopathy With Vanishing White Matter Open
Introduction Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder caused by mutations in any one of the EIF2B 1–5, which encode subunits of eukaryotic translation initiation factor 2B (eIF2B). Previous studies s…
View article: Mechanistic Insights into Drug-Induced Guillain–Barré Syndrome: A Large-Cohort Analysis of the FAERS Database
Mechanistic Insights into Drug-Induced Guillain–Barré Syndrome: A Large-Cohort Analysis of the FAERS Database Open
Background/Objectives: Drug-induced Guillain–Barré Syndrome (GBS) is a severe complication of pharmacotherapy. Previous research has established a connection between certain medications and higher GBS risk. However, a large-cohort analysis…
View article: Solving the Content Gap in Roblox Game Recommendations: LLM-Based Profile Generation and Reranking
Solving the Content Gap in Roblox Game Recommendations: LLM-Based Profile Generation and Reranking Open
With the vast and dynamic user-generated content on Roblox, creating effective game recommendations requires a deep understanding of game content. Traditional recommendation models struggle with the inconsistent and sparse nature of game t…
View article: SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome
SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome Open
View article: Comparison of the two intestinal anastomosis methods in pediatric patients
Comparison of the two intestinal anastomosis methods in pediatric patients Open
Background For pediatric patients, there is still controversy regarding the anastomotic technique used for gastrointestinal construction. The study was to evaluate the continuous single-layer (CSL) intestinal anastomosis method compared wi…
View article: Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From <scp>iPSCs</scp> of Children With Alexander Disease
Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From <span>iPSCs</span> of Children With Alexander Disease Open
Aims Alexander disease (AxD) is a leukodystrophy caused by mutations in the astrocytic filament gene GFAP . There are currently no effective treatments for AxD. Previous studies have rarely established AxD models with the patient's origina…
View article: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy Open
View article: OMuleT: Orchestrating Multiple Tools for Practicable Conversational Recommendation
OMuleT: Orchestrating Multiple Tools for Practicable Conversational Recommendation Open
In this paper, we present a systematic effort to design, evaluate, and implement a realistic conversational recommender system (CRS). The objective of our system is to allow users to input free-form text to request recommendations, and the…
View article: The Role of Extracellular Vesicles Derived from MicroRNA-146a–modified Mesenchymal Stem Cells in Modulating Inflammation in Experimental Glenohumeral Osteoarthritis
The Role of Extracellular Vesicles Derived from MicroRNA-146a–modified Mesenchymal Stem Cells in Modulating Inflammation in Experimental Glenohumeral Osteoarthritis Open
Glenohumeral osteoarthritis (GOA) is characterized by chronic inflammation leading to joint damage. Extracellular vesicles (EVs) derived from mesenchymal stem cells (MSCs) are promising therapies because of their immunomodulatory functions…
View article: Multiplexed representation of others in the hippocampal CA1 subfield of female mice
Multiplexed representation of others in the hippocampal CA1 subfield of female mice Open
View article: Bexarotene promotes neuroblastoma SH-SY5Y cells differentiation to mature neurons with decreased proliferation
Bexarotene promotes neuroblastoma SH-SY5Y cells differentiation to mature neurons with decreased proliferation Open
Bexarotene is an retinoid X receptor (RXR) pharmacological agonist that has been demonstrated to treat cutaneous T-cell lymphoma and promising therapeutic potential for neurological diseases. But it still remains unclear whether bexarotene…
View article: STON2 variations are involved in synaptic dysfunction and schizophrenia-like behaviors by regulating Syt1 trafficking
STON2 variations are involved in synaptic dysfunction and schizophrenia-like behaviors by regulating Syt1 trafficking Open
Synaptic dysfunction is a core component of the pathophysiology of schizophrenia. However, the genetic risk factors and molecular mechanisms related to synaptic dysfunction are still not fully understood. The Stonin 2 (STON2) gene encodes …
View article: Effective treatment of NR2F1-related epilepsy with perampanel
Effective treatment of NR2F1-related epilepsy with perampanel Open
Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Although ~ 46.7% of BBSOAS patients present with epilepsy, which is always drug-resistant and associated with higher rates of behavioral …
View article: De novo <i>CLPTM1</i> variants with reduced <scp>GABA<sub>A</sub>R</scp> current response in patients with epilepsy
De novo <i>CLPTM1</i> variants with reduced <span>GABA<sub>A</sub>R</span> current response in patients with epilepsy Open
Objective To investigate the clinical features and potential pathogenesis mechanism of de novo CLPTM1 variants associated with epilepsy. Methods Identify de novo genetic variants associated with epilepsy by reanalyzing trio‐based whole‐exo…
View article: A conditional knockout rat resource of mitochondrial protein-coding genes via a DdCBE-induced premature stop codon
A conditional knockout rat resource of mitochondrial protein-coding genes via a DdCBE-induced premature stop codon Open
Hundreds of pathogenic variants of mitochondrial DNA (mtDNA) have been reported to cause mitochondrial diseases, which still lack effective treatments. It is a huge challenge to install these mutations one by one. We repurposed the DddA-de…
View article: Human‐induced pluripotent stem cell‐derived cerebral organoid of leukoencephalopathy with vanishing white matter
Human‐induced pluripotent stem cell‐derived cerebral organoid of leukoencephalopathy with vanishing white matter Open
Introduction Leukoencephalopathy with vanishing white matter (VWM) is a rare autosomal recessive leukoencephalopathy resulting from mutations in EIF2B1‐5 , which encode subunits of eukaryotic translation initiation factor 2B (eIF2B). Studi…
View article: Global boundedness of classical solutions to a Keller-Segel-Navier-Stokes system involving saturated sensitivity and indirect signal production in two dimensions
Global boundedness of classical solutions to a Keller-Segel-Navier-Stokes system involving saturated sensitivity and indirect signal production in two dimensions Open
This paper is concerned with the following Keller–Segel–Navier–Stokes system with indirect signal production and tensor-valued sensitivity: \begin{document}$ \left\{\begin{array}{*5{lllll }} n_{t}+u \cdot \nabla n=\Delta n-\nabl…
View article: Integrin β1/FAK/SRC signal pathway is involved in autism spectrum disorder in<i>Tspan7</i>knockout rats
Integrin β1/FAK/SRC signal pathway is involved in autism spectrum disorder in<i>Tspan7</i>knockout rats Open
TSPAN7 is related to various neurological disorders including autism spectrum disorder (ASD). However, the underlying synaptic mechanism of TSPAN7 in ASD is still unclear. Here, we showed that Tspan7 knockout rats exhibited ASD-like and ID…
View article: Correction to: Transcriptome Analysis Reveals the Anti-Tumor Mechanism of Eucalyptol Treatment on Neuroblastoma Cell Line SH-SY5Y
Correction to: Transcriptome Analysis Reveals the Anti-Tumor Mechanism of Eucalyptol Treatment on Neuroblastoma Cell Line SH-SY5Y Open
View article: Transcriptome Analysis Reveals the Anti-Tumor Mechanism of Eucalyptol Treatment on Neuroblastoma Cell Line SH-SY5Y
Transcriptome Analysis Reveals the Anti-Tumor Mechanism of Eucalyptol Treatment on Neuroblastoma Cell Line SH-SY5Y Open
Eucalyptol (1.8-cineole), an active component in traditional Chinese medicine Artemisia argyi for moxibustion. Previous studies have shown that eucalyptol has anti-tumor effects on leukemia and colon cancer. Nonetheless, the effect and mec…
View article: The recurrent mutation in <i>RNF220</i> also causes hypomyelination in China and is a CpG hot spot
The recurrent mutation in <i>RNF220</i> also causes hypomyelination in China and is a CpG hot spot Open
Journal Article The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot Get access Huifang Yan, Huifang Yan Department of Pediatrics, Peking University First Hospital, Beijing 100034, ChinaMichigan Neuro…
View article: Neuroblastoma SH-SY5Y Cell Differentiation to Mature Neuron by AM580 Treatment
Neuroblastoma SH-SY5Y Cell Differentiation to Mature Neuron by AM580 Treatment Open
View article: In Vitro Effects of Acitretin on Human Neuronal SH-SY5Y Cells
In Vitro Effects of Acitretin on Human Neuronal SH-SY5Y Cells Open
Acitretin is an oral drug approved by the Food and Drug Administration that is commonly used to treat psoriasis. In recent years, acitretin has been identified as a candidate drug for the treatment of Alzheimer’s disease, but its role in n…
View article: Brain Somatic Variant in Ras-Like Small GTPase RALA Causes Focal Cortical Dysplasia Type II
Brain Somatic Variant in Ras-Like Small GTPase RALA Causes Focal Cortical Dysplasia Type II Open
Purpose In our group’s previous study, we performed deep whole-exome sequencing and targeted amplicon sequencing in the postoperative brain tissue of epilepsy patients with focal cortical dysplasia type II (FCD II). We identified the first…
View article: Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy
Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy Open
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent deficit of myelin observed on magnetic resonance imaging (MRI). To identify a new disease-associated gene of HLD, tri…
View article: Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology
Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology Open
Objective The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) for infantile spasms (IS) in patients with and without different causative genetic mutations. Methods We retrospectively evaluated the data of 119 infa…