A5027415382- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Neuroinflammation and Neurodegeneration Mechanisms
- Functional Brain Connectivity Studies
- Botulinum Toxin and Related Neurological Disorders
- Immune cells in cancer
- Metabolism and Genetic Disorders
- Ion channel regulation and function
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Drug Transport and Resistance Mechanisms
- Neurogenetic and Muscular Disorders Research
- Neurogenesis and neuroplasticity mechanisms
- Cholesterol and Lipid Metabolism
- Metalloenzymes and iron-sulfur proteins
- Hereditary Neurological Disorders
- Pluripotent Stem Cells Research
- Advanced Neuroimaging Techniques and Applications
- Aquaculture disease management and microbiota
- S100 Proteins and Annexins
- interferon and immune responses
- Helicobacter pylori-related gastroenterology studies
- Graphene and Nanomaterials Applications
Shanghai Sixth People's Hospital
2021-2024
Shanghai Jiao Tong University
2020-2024
Fudan University
2024
State Key Laboratory of Medical Neurobiology
2024
Southeast University
2022
Central University of Finance and Economics
2022
Jimei University
2021
Ruijin Hospital
2020-2021
Zaozhuang Municipal Hospital
2020
Harbin Electric Corporation (China)
2006
Abstract Background Colony‐stimulating factor 1 receptor (CSF1R)‐related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated. Objective objective the study to clarify core features influence factors CRD in China. Methods Clinical genetic‐related data China were collected. Mini‐Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Sundal MRI Severity Score evaluated. Whole exome sequencing...
ABSTRACT Background Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one‐third PKD patients are attributed to proline‐rich transmembrane protein 2 ( PRRT2 ) mutations. Objective We aimed explore potential causative gene for PKD. Methods A cohort 196 ‐negative probands were enrolled whole‐exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method case–control analysis, was applied identify candidate genes. Another 325...
BACKGROUND Lead (Pb) is a widely used metal in modern industry and regarded as health hazard. Although lead-induced genotoxicity has been confirmed, the direct evidence that lead induces human cells its related mechanisms not fully elucidated. In this study, for first time, we evaluated induced by lymphoblastoid TK6 cells. MATERIAL AND METHODS The were incubated with various concentrations of Pb(Ac)2 6 h, 12 or 24 h. Cell viability was detected CCK8 assay. Various biochemical markers...
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series patients mutations the gap-junction beta-1 gene (
To evaluate adult-onset neuronal intranuclear inclusion disease (NIID)-related retinopathy with guanine-guanine-cytosine repeat expansions in NOTCH2NLC. Neuro-ophthalmic evaluations, including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure (IOP), ultrasound pupillometry, fundus photography, autofluorescence (FAF), optical coherence tomography (OCT), Humphrey field, full-field electroretinography (ERG), and multifocal ERG (mf-ERG) were performed patients...
Abstract Microglia play critical roles in the brain physiology and pathology. CSF1R is primarily expressed microglia. The mono-allelic mutation causes adult-onset leukoencephalopathy with axonal spheroids pigmented glia (ALSP), a lethal neurological disease no rational cure clinical trials. There are animal models mimicking human ALSP. In this study, we first developed mouse based on ALSP hotspot mutations. We then utilized microglia replacement by bone marrow transplantation (Mr BMT) to...
Introduction There is an urgent need to address vaccine hesitancy achieve booster vaccination. This study aimed reveal the factors associated with (including COVID-19 vaccine) among Chinese residents, modifications of since previous year, and propose vaccination rate improvement measures. Materials methods qualitative return visit was performed between January mid-February 2022, following last interview conducted February March 2021. According outline designed in advance, 60 residents from...
Occipital cortical malformation (OCCM) is a disease caused by malformations of development characterized polymicrogyria and pachygyria the occipital lobes childhood-onset seizures. The recessive or complex heterozygous variants LAMC3 gene are identified as cause OCCM. In present study, we novel (c.470G > A c.4030 + 1G A) in Chinese female with Cranial magnetic resonance imaging was normal. Functional experiments confirmed that both variant sites premature truncation laminin γ3 chain....
Background: Cerebrotendinous xanthomatosis(CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene. CTX underdiagnosed and potentially treatable disease, thus a detailed appreciation phenotypic spectrum genetic characteristics are crucial for early diagnosis treatment. Objectives methods: Four families with gene were enrolled our study. We investigated clinical molecular features probands CTX. Genetic analysis was performed detecting variants....
CSF1R-related leukoencephalopathy is an adult-onset monogenic microgliopathy causing with high mortality and disabiliity. Here, human induced pluripotent stem cell (hiPSC) line was generated from peripheral blood mononuclear cells of a 46-year-old female patient carrying heterozygous c.2381 T>C/p.Ile794Thr mutation episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 hMYC. With normal karyotype, markers expression the capability to differentiate into three germ layers in vivo,...
Abstract Background More than 60% of paroxysmal kinesigenic dyskinesia (PKD) cases are uncertain variants. Objective The aim was to elucidate novel genetic contribution PKD. Methods A total 476 probands with causes were enrolled for whole‐exome sequencing. method case–control analysis applied identify the candidate genes. Whole‐cell patch‐clamp recording verify electrophysiological impact identified mouse model cerebellar heterozygous knockout gene developed via adeno‐associated virus...
Major histocompatibility complex (MHC) molecules play a critical role in the immune response of vertebrate animals by presenting foreign antigens to T lymphocytes. In this study, we first cloned and identified classical novel nonclassical MHC I α from Japanese eel (Anguilla japonica), named as AjMHC I-UBA I-L, respectively. The full-length cDNA contains an open reading frame (ORF) 1047 bp encoding predicted protein 348 amino acids, while I-L 1089 encodes 362 acids. multiple alignment acid...
Abstract Background Paroxysmal kinesigenic dyskinesia is the representative form of paroxysmal dyskinesia, and its mechanism unclear. Although mostly attributed to genetic factors, more than 60% cases are uncertain mutations. We searched for novel causes explored corresponding pathophysiology. Methods A cohort 476 probands with primary were enrolled whole exome sequencing. Gene Ranking, Identification Prediction Tool, a method case-control analysis,was applied identify candidate genes....
To study P21 and carcinoembryonic antigen (CEA) expression to measure argyrophilic nucleolar organizer region (AgNOR) counts in various lesions of colonic mucosa the mechanism carcinogenesis.Thirty-eight male Wistar rats were injected with dimethylhydrazine (DMH) once a week for 25 wk. CEA was detected by immunohistochemical methods, AgNOR counted silver staining paraffin sections from lesions.The incidence carcinoma DMH-treated 71.05% (27/38), lymph node metastasis occurred six rats....