A5100365294- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- High Altitude and Hypoxia
- Hippo pathway signaling and YAP/TAZ
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Ion channel regulation and function
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Pharmacological Effects and Toxicity Studies
- Pancreatic and Hepatic Oncology Research
- Pediatric Hepatobiliary Diseases and Treatments
- Connective tissue disorders research
- Respiratory Support and Mechanisms
- Cardiac electrophysiology and arrhythmias
- Coleoptera: Cerambycidae studies
- Genetic factors in colorectal cancer
- Fish Ecology and Management Studies
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Elasticity and Material Modeling
- Spider Taxonomy and Behavior Studies
Guangzhou Medical University
2015-2025
Second Affiliated Hospital of Guangzhou Medical University
2015-2025
Shandong First Medical University
2024-2025
Shandong Provincial Hospital
2025
Jinan Central Hospital
2024
Ministry of Education of the People's Republic of China
2018-2023
Nantong University
2021-2023
Affiliated Hospital of Nantong University
2021-2023
Weatherford College
2023
Second Military Medical University
2019-2021
In modern cities, more and vehicles, such as taxis, have been equipped with GPS devices for localization navigation. Gathering analyzing these large-scale real-world digital traces provided us an unprecedented opportunity to understand the city dynamics reveal hidden social economic "realities". One innovative pervasive application is provide correct driving strategies taxi drivers according time location. this paper, we aim discover both efficient inefficient passenger-finding from a...
Mutations in the SCN1A gene have been identified epilepsy patients with widely variable phenotypes and modes of inheritance asymptomatic carriers. This raises challenges evaluating pathogenicity mutations. We systematically reviewed all mutations established a database containing information on functional alterations. In total, 1,257 identified, which 81.8% were not recurrent. There was negative correlation between phenotype severity missense mutation frequency. Further analyses suggested...
The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain-predominantly cerebral cortex-and plays an essential role synaptic vesicle priming and fusion, potentially affecting neuronal excitability. However, functional significance of UNC13B mutation human disease not known. In this study, we screened for novel genetic variants cohort 446 unrelated cases (families) with partial epilepsy without acquired...
Abstract The human life depends on the function of proteins that are encoded by about twenty-thousand genes. gene-disease associations in majority genes unknown and mechanisms underlying pathogenicity genes/variants common diseases remain unclear. We studied how genes, i.e., genetic-dependence, which was classified as genetic-dependent nature (GDN, vital consequence abolishing a gene), quantity (GDQ, quantitative genetic required for normal life), stage (GDS, temporal expression pattern)....
Genes are unique in functional role and differ their sensitivities to genetic defects, but with difficulties pathogenicity prediction. This study attempted improve the performance of existing silico algorithms find a common solution based on individualization strategy. We initiated epilepsy-related SCN1A variants by sub-regional stratification. missense related epilepsy were retrieved from mutation databases, benign collected ExAC database. Predictions performed using 10 traditional tools...
RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 ubiquitously distributed highly expressed in the heart brain. Previous studies have identified mutations etiology of arrhythmogenic right ventricular dysplasia catecholaminergic polymorphic tachycardia. However, relationship between gene epilepsy not determined. In this study, we screened for novel genetic variants a group 292...
To explore the phenotype spectrum of DEPDC5 variants and possible mechanisms underlying phenotypical variation, we performed targeted next-generation sequencing in 305 patients with focal epilepsies 91 generalized epilepsies. Protein modeling was to predict effects missense mutations. All previously reported epilepsy-related were reviewed. The genotype-phenotype correlations molecular sub-regional implications analyzed. We identified a homozygous mutation (p.Pro1031His) case cortical...
Idiopathic generalized epilepsies (IGEs) are a common group of genetic with high heterogeneity and complex inheritance. However, the basis is still largely unknown. This study aimed to explore etiologies in IGEs.
The RYR3 gene encodes a brain-type ryanodine receptor that functions to release calcium from intracellular storage and plays an essential role in signaling. associations between variants brain disorders remain unknown. We performed whole-exome sequencing patients with idiopathic (non-lesional) partial epilepsy of unknown etiology. One de novo missense six biallelic were identified seven unrelated cases. These had no or extremely low allele frequencies the general population predicted alter...
Abstract Elastin undergoes an inverse temperature transition and collapses at high temperatures in both simulation experiment. We investigated a pH‐dependent modification of this by simulating glutamic acid (Glu)‐substituted elastin varying pHs temperatures. The Glu‐substituted peptide collapsed higher than the unsubstituted when Glu was charged. charge effects could be reversed neutralization carboxyl groups low pH, that case lower temperature. collapse accompanied formation β‐turns short...
Objective: ADHD is marked by an apparent contradiction in social relationships: Those with the disorder have more difficulty establishing close relationships but report increased rates of risky sexual behavior. Two studies examined relationship between symptomatology and fear intimacy, anxiety, behavior college students. Method: In first study, students China ( n = 300) United States 233) completed a series questionnaires. second, 192 American follow-up measures. Results: those symptoms did...
Abstract The Hippo signaling cascade regulates cell proliferation and survival, as well overall tissue homeostasis. These functions are mediated by the TEAD family of transcription factors which, when bound to co-activators YAP or TAZ, induce expression pro-growth anti-apoptotic genes. This pathway is frequently dysregulated across tumor types, with genetic alterations along other mechanisms driving hyper-active YAP/TAZ-TEAD. In addition, mediates resistance therapies targeting key oncogenic...
Abstract Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3. This study aimed to explore the role of in common epilepsy mechanism underlying phenotype heterogeneity. Methods Whole‐exome sequencing was performed cohort 313 patients idiopathic partial (focal) epilepsy. Functional studies determined...
Background Although Hypertension (HTN) is considered to be a cardiovascular disease caused by multiple factors, the cause of it still unknown. In this study, we aim find out whether circulating immune cell characteristics have an impact on susceptibility HTN. Methods This study employed comprehensive two-sample Mendelian randomization (MR) analysis investigate causal association between and Utilizing publicly accessible genetic data, examined relationship HTN 731 signatures. To ensure...
variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether
Changes in the environment such as high-altitude hypoxia (HAH) can lead to adaptive changes blood system of mammals. However, there is limited information about adaptation Holstein dairy cows introduced areas. This study used 12 multiparous (600 ± 55 kg, average three years old) exposed HAH conditions Nyingchi Tibet (altitude 3000 m) and HAH-free Shenyang 50 m). The miRNA microarray analysis iTRAQ proteomics approach (accepted more suitable for accurate comprehensive prediction targets) were...