A5087480865- Genetics and Neurodevelopmental Disorders
- Neurobiology and Insect Physiology Research
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Diet and metabolism studies
- RNA and protein synthesis mechanisms
- Endometriosis Research and Treatment
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Assisted Reproductive Technology and Twin Pregnancy
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Machine Learning in Bioinformatics
- Sperm and Testicular Function
- Cellular transport and secretion
- Reproductive Health and Technologies
- Ion channel regulation and function
- CRISPR and Genetic Engineering
- Retinal Development and Disorders
- Liver physiology and pathology
- Neuroscience and Neuropharmacology Research
- Cognitive and developmental aspects of mathematical skills
- Legionella and Acanthamoeba research
- Liver Diseases and Immunity
- Ion Transport and Channel Regulation
Second Affiliated Hospital of Guangzhou Medical University
2020-2024
Guangzhou Medical University
2020-2024
Chinese University of Hong Kong
2022-2024
Institute of Neurobiology
2023
Guangdong Medical College
2023
Third Affiliated Hospital of Guangzhou Medical University
2021-2022
Guangzhou University of Chinese Medicine
2022
Ministry of Education of the People's Republic of China
2021
Sun Yat-sen University
2013-2015
Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation and death. This study aims to explore the relationship between variants epilepsy. Methods Whole-exome sequencing was performed a cohort of 378 patients with partial (focal) A Drosophila Zfh2 knockdown model used validate association Results Compound heterozygous were identified eight unrelated cases. burden significantly higher case cohort, shown by multiple/specific statistical...
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 BACKGROUND Azadirachtin is a botanical pesticide, which possesses conspicuous biological actions such as insecticidal, anthelmintic, antifeedancy, antimalarial effects well insect growth regulation. Deterrent for chemoreceptor functions appears to be the main mechanism involved in potent of Azadirachtin, although cytotoxicity and subtle changes skeletal muscle physiology may also contribute its insecticide responses. In order discover on central nervous system ( CNS ), patch‐clamp...
Abstract Aims To identify novel pathogenic gene of febrile seizures (FS)/epilepsy with antecedent FS (EFS+). Methods The trio‐based whole‐exome sequencing was performed in a cohort 462 cases FS/EFS+. Silico programs, sequence alignment, and protein modeling were used to predict the damaging variants. Statistical testing analyze gene‐based burden Results Five heterozygous missense variants CELSR3 detected five (families) eight individuals (five females, three males) affected. Two de novo,...
Abstract Background Epileptic encephalopathy is a devastating epilepsy with etiologies largely elusive, despite whole-gene/exon sequencing of large cohorts. This study targeted the genetic causes childhood epileptic encephalopathy, typically Lennox-Gastaut syndrome (LGS) featured by age-dependent onset and characteristic clinical manifestations. Methods Trio-based whole-exome was performed in 235 LGS cases individualized analyses on each trio explainable inheritance origin stratified...
Objective Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover genetic basis for undiagnosed PKD patients. Methods Whole‐exome sequencing was performed 106 PRRT2 ‐negative probands. The functional impact variants investigated in HEK293T cells and Drosophila . Results Heterozygous KCNJ10 were identified 11 individuals from 8 unrelated families, which accounted 7.5% (8/106)...
Abstract YWHAZ encodes an adapter protein 14–3-3ζ, which is involved in many signaling pathways that control cellular proliferation, migration and differentiation. It has not been definitely correlated to any phenotype OMIM. To investigate the role of gene intellectual disability global developmental delay, we conducted whole-exon sequencing all available members from a large three-generation family discovered novel variant was associated with delay. This missense mutation YWHAZ,...
With the advent of trio-based whole-exome sequencing, identification epilepsy candidate genes has become easier, resulting in a large number potential that need to be validated whole-organism context. However, conducting animal experiments systematically and efficiently remains challenge due their laborious time-consuming nature. This study aims develop optimized strategies for validating using Drosophila model.This incorporate behavior, morphology, electrophysiology genetic manipulation...
ABSTRACT Background The ZFHX3 gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation, and death. This study aims to explore the relationship between variants epilepsy. Methods Whole-exome sequencing was performed a cohort of 378 patients with partial (focal) A Drosophila Zfh2 knockdown model used validate association Results Compound heterozygous were identified eight unrelated cases. burden significantly higher case cohort, shown by multiple/specific...
Refractory epilepsy is an intractable neurological disorder that currently difficult to achieve effective pharmacological control in clinical practice and can result poor quality of life as well increased mortality. Genetic factors are important causes epilepsy, especially idiopathic epilepsy. In the gene sequencing work, we identified one refractory epileptic patient who carried three epileptogenic candidate genes: UBR4, LRP1, OPHN1 variants. To clarify epileptogenicity interactions...
Abstract Complex genetic architecture is the major cause of heterogeneity in epilepsy, which poses challenges for accurate diagnosis and precise treatment. A large number epilepsy candidate genes have been identified from clinical studies, particularly with widespread use next-generation sequencing. Validating these emerging as a valuable yet challenging task. Drosophila serves an ideal animal model validating associated neurogenetic disorders such due to its rapid reproduction rate,...
Abstract Non‐symbolic stimuli representing numerosities are invariably associated with continuous magnitudes, complicating the interpretation of experimental studies on numerosity perception. Although various algorithms for generation have been proposed, they do not consider quantifiable distribution values magnitudes and degree numerosity‐magnitudes association. Consequently, cannot thoroughly exclude possibility integration or strategy switch between different in numerical stimulus Here,...
The suboesophageal ganglion (SOG), which connects to both central and peripheral nerves, is the primary taste-processing center in Drosophila’s brain. neural oscillation this may be of great research value yet it rarely reported. This work aims determine amount unique information contained within oscillations SOG describe variability these patterns. approximate entropy (ApEn) values spontaneous membrane potential (sMP) neurons were calculated paper. arithmetic mean (MA), standard deviation...
Abstract ObjectiveThis study aimed to determine whether blastocyst quality affect on sex ratio at birth through in single frozen thawed embryo transfer cycle.Materials and MethodsWe ran this retrospective 4205 singleton infants born following from January 2016 October 2020 a institution. We compared the ratios of these with respect quality, growth rate morphology.ResultsThe main outcomes were that babies was 56.67% which higher than normal level (51.22%). The mothers older 40 years...
Abstract The vast majority of medically intractable epilepsy cases can be traced to polygenic backgrounds, and pathogenic variants contribute genetic risk in the complex inheritance this common disorder. We generated monogenic digenic drosophila models by knock-down two epilepsy-associated genes, CACNA1A CELSR2, with impacts on intersynaptic calcium activities. Monogenic knockdown or CELSR2 could induce seizure-like behavior flies. Interestingly, seizure tests showed that deficiency...
Abstract It has been established that UBR4 encodes E3 ubiquitin ligase, which determines the specificity of substrate binding during protein ubiquitination and associated with various functions nervous system but not reproductive system. Herein, we explored role on fertility development a drosophila model. Different knockdown flies were using GAL4/upstream activating sequence Fertility, hatchability testis morphology studied, bioinformatics analyses conducted. Our results indicated...
Introduction It has been established that UBR4 encodes E3 ubiquitin ligase, which determines the specificity of substrate binding during protein ubiquitination and associated with various functions nervous system but not reproductive system. Herein, we explored role on fertility a Drosophila model . Methods Different Ubr4 knockdown flies were using UAS/GAL4 activating sequence Fertility, hatchability, testis morphology studied, bioinformatics analyses conducted. Our results indicated...