A5004306709- Cancer-related gene regulation
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Cancer, Lipids, and Metabolism
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- EEG and Brain-Computer Interfaces
- Metabolism and Genetic Disorders
- Ferroptosis and cancer prognosis
- SARS-CoV-2 detection and testing
- Sphingolipid Metabolism and Signaling
- RNA and protein synthesis mechanisms
- Ion channel regulation and function
- Peroxisome Proliferator-Activated Receptors
- Cholesterol and Lipid Metabolism
- RNA regulation and disease
- RNA Research and Splicing
- Cellular transport and secretion
- Parvovirus B19 Infection Studies
- Genomics and Rare Diseases
First Affiliated Hospital of Zhengzhou University
2019-2024
Fujian Medical University
2020-2024
Union Hospital
2020-2024
Zhuhai Institute of Advanced Technology
2023-2024
Sun Yat-sen University
2015-2021
Sun Yat-sen University Cancer Center
2015-2021
State Key Laboratory of Oncology in South China
2015-2021
Guangdong Medical College
2013
Mitochondrial aconitase (ACO2) is an essential enzyme that bridges the TCA cycle and lipid metabolism. However, its role in cancer development remains to be elucidated. The metabolic subtype of colorectal (CRC) was recently established. We investigated ACO2's potential CRC progression through mediating alterations.
Objective Epilepsy is a common neurological disorder characterized by recurrent epilepsy episodes. As non-pharmacological treatment, the ketogenic diet has been widely applied in treating epilepsy. However, exact therapeutic mechanism of for remains unclear. This study investigates molecular mechanisms regulating fatty acid metabolism and activating ADCY3-initiated cAMP signaling pathway to enhance neuronal inhibition thereby treat Methods results Meta-analysis reveals that superior...
Background: Drug-resistant epilepsy (DRE) patients exhibit aberrant large-scale brain networks. Perampanel may be a therapeutic option for controlling seizures in these patients. Objective: We aim to explore the differences of resting-state electroencephalogram (EEG) microstate perampanel-responsive and non-responsive DRE Design: Retrospective study. Methods: Clinical data were collected from who received perampanel treatment at Fujian Medical University Union Hospital June 2020 September...
This study aims to investigate the difference between epilepsy comorbid with and without cognitive dysfunction.
Background Epilepsy is one of the most prevalent serious brain disorders globally, impacting over 70 million individuals. Observational studies have increasingly recognized impact plasma lipidome on epilepsy. However, establishing a direct causal link between and epilepsy remains elusive due to inherent confounders complexities reverse causality. This study aims investigate relationship specific epilepsy, along with their intermediary mediators. Methods We conducted two-sample Mendelian...
// Peng Wang 1, 2, * , Ming Song Zhao-lei Zeng 1 Chao-feng Zhu Wen-hua Lu Jing Yang Ming-zhe Ma A-min Huang Yumin Hu 3 Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center Medicine, Guangzhou, China 2 Department Emergency Memorial Hospital, Translational Molecular Pathology, The Texas M.D. Anderson Houston, TX, USA These authors have contributed equally to this work Correspondence to: Hu, e-mail: huym@sysucc.org.cn Huang,...
Recent studies have documented that reduced M-current promotes epileptogenesis and attenuates synaptic remodeling. Neurite growth is closely related to the level of 5-HT6 receptor (5-HT6R) in central nervous system. However, little literature available regarding relation between 5-HT6R role regulation. Herein, we found expression was notably increased KNCQ2/3, main components M channel, decreased a time-dependent manner pilocarpine-induced chronic epileptic hippocampus. Interestingly,...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread and poses a major threat to public health worldwide. The whole genome sequencing plays crucial role in virus surveillance evolutionary analysis. In this study, five sequences of SARS-CoV-2 were obtained from nasopharyngeal swab samples Zhengzhou, China. Following RNA extraction cDNA synthesis, multiplex PCR was performed with two primer pools produce the overlapped amplicons ~1,200 bp. viral genomes 96% coverage...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approximately 90% patients have sporadic cases (sALS), at least 4 genes, i.e. C9orf72 , SOD1 FUS TARDBP been identified the main causative while many others proposed potential risk genes. However, these mutations could explain only ~ 10% sALS cases. The neurofilament...
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions extremities.The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in double-stranded RNA-specific adenosine deaminase (ADAR1) gene were identified.We performed mutational analysis ADAR1 Chinese family included three individuals affected with...
<title>Abstract</title> Epilepsy is one of the most common serious brain diseases, affecting more than 70 million people. Complex immune-brain interactions can affect development and function epilepsy.Two-sample Mendelian randomized (MR) analysis was used to determine causal relationship between 731 immune cells as exposure data epilepsy, focal epilepsy (FE), generalized epilepsy(GE) outcome based on Genome-Wide Association Studies (GWAS) Finngen R10 dataset. The main methods evaluate...
Abstract Background Although the MODY12 subtype, caused by ABCC8 mutations, is rare, it highly sensitive to sulfonylureas. The identification of mutations in patients clinically diagnosed with MODY has ability contribute precise management diabetes. Methods Genetic analysis two families were conducted using whole-exome sequencing (WES) and Sanger sequencing. spatial structures mutant proteins constructed MODELLER PyMOL software provide further evidence pathogenicity. Results heterozygous...
OBJECTIVE To analyze mutation of POMT1 gene in a Chinese family affected with congenital muscular dystrophy (CMD). METHODS Peripheral blood samples the including one and two unaffected individuals, addition chorionic villous sample from fetus, were collected. PCR was used to amplify exons 19 20 gene, products sequenced directly. Based on result genetic testing, prenatal diagnosis fetus attained. RESULTS The proband found carry heterozygous missense c.1939G>A (p.Ala647Thr) exon inherited...
Objective To detect gene inversion in two pedigrees affected with Hemophilia A by using Nanopore sequencing technology. Methods Peripheral blood samples were taken from members of the pedigrees. Following extraction genome DNA, genetic variants carriers detected and subjected to bioinformatic analysis. Results has identified niece proband pedigree 1 as carrier Inv22, mother 2 Inv1, which was consistent clinical findings. Breakpoint sites both accurately mapped. Statistical analysis results...
Objectives: Using network pharmacology methods, investigate the potential lipid-lowering mechanism of combination anthocyanins and allicin in hyperlipidemic rats. Methods: Apply databases such as Pubchem, SwissTargetPrediction, TCMSP, DrugBank BATMAN-TCM to predict targets for allicin. Additionally, connected hyperlipidemia were found multiple (GeneCards, OMIM, Drugbank, TTD). Upload discovered drug-disease intersection into database STRING order construct a common target protein-protein...
Objective The objective of this study was to identify the factors that affect efficacy added perampanel for treatment drug-resistant epilepsy (DRE), and develop a reliable nomogram predict benefit addition. Methods A retrospective clinical analysis conducted on DRE patients who received were followed up at least 6 months from January 2020 September 2023 Epilepsy Center Fujian Medical University Union Hospital. Data December 2021 used as development dataset build model, while data 2022...
To study the effects of grape seed proanthocyanidins (GSP) combined with allicin on serum lipids level and vascular damage in a rat model hyperlipidemia.SD rats(male, 170-220 gn= 40) were randomized into five groups (n = 8/group): modelhigh fat cholesterol diet; controlnormal model+low-dose (GSP+allicin )(GSP 45mg/kg, 30mg/kg, orally); model+high-dose (GSP+allicin) (GSP180mg/kg, 90mg/kg, orally) positive control (model+simvastatin (4 mg/kg)). Normal group was fed conventionally, remaining...
To explore the feasibility of using PCR-based capillary electrophoresis method to analysis mutation TOR1A gene in a family affected with primary torsion dystonia (PTD).Peripheral blood sample was collected from proband and amnionic fluid her fetus for extraction DNA. The 5th exon its flanking sequences were amplified PCR analyzed agarose electrophoresis, fluorescence labeled fragment Sanger sequencing.Fluorescence performed through which showed that carried c.907_909delGAG (p.Glu303del)...
We hereby reported a case of false negative non-invasive prenatal screening (NIPS) for trisomy 18. The fetus with increased nuchal translucency (3.2 mm) detected by ultrasound scan at 13+4 gestational weeks received NIPS and the result was in chromosomes 21, 18 13. A routine examination 22 gestation revealed multiple anomalies second offered, which showed again. pregnancy terminated 22+3 weeks. Multiple fetal placental biopsies were collected chromosome analysis using copy number variation...
To delineate chromosomal aberration caused by structural abnormalities with bionano optical mapping.Chromosomal karyotyping, mapping and copy number variation sequencing (CNV-seq) were used to the carried a patient.The patient was found have an anomalous chromosome 16 karyotyping analysis, which verified CNV-seq as loss of heterozygosity at 16p11.2-p12.2.Bionano has provided novel tool for detection diagnosis aberrations.
Tweetable abstractPrenatal WES has the potential to improve clinical management of pregnancies and provide risk recurrence in future pregnancies.Keywords : whole exome sequencing, prenatal diagnosis, fetal structural anomaly, genetic variants
To review the clinical data of a fetus with false positive result non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM).Amniotic fluid sample was taken from pregnant women high risk for chromosome 16 aneuploidy karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic also conducted on fetal maternal surface placenta, root umbilical cord skin tissue after induced abortion.Cytogenetic...