A5064731125- Pluripotent Stem Cells Research
- Genetic Neurodegenerative Diseases
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Ion Channels and Receptors
- Parkinson's Disease Mechanisms and Treatments
- Bioinformatics and Genomic Networks
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Epilepsy research and treatment
- Renal and related cancers
- Cancer-related gene regulation
- Plant nutrient uptake and metabolism
- Neurological disorders and treatments
- Plant Stress Responses and Tolerance
- Fibroblast Growth Factor Research
- Cell death mechanisms and regulation
- Neurogenetic and Muscular Disorders Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genetic Associations and Epidemiology
- Advanced Data Storage Technologies
First Affiliated Hospital of Guangzhou Medical University
2020-2024
State Key Laboratory of Respiratory Disease
2024
Guangzhou Medical University
2020-2024
Guizhou University
2024
Xiangya Hospital Central South University
2018-2023
Central South University
2018-2023
Xi’an University of Posts and Telecommunications
2022
Chengdu Medical College
2007-2022
Second Xiangya Hospital of Central South University
2021
National Clinical Research
2021
Severe reduced synaptic density was observed in spinocerebellar ataxia (SCA) postmortem neuropathology, but vivo assessment of loss remains challenging. OBJECTIVE SPINOCEREBELLAR ATAXIA TYPE 3: The objective this study to assess and its clinical correlates type 3 (SCA3) patients by vesicle glycoprotein 2A (SV2A)-positron emission tomography (PET) imaging.We recruited 74 SCA3 individuals including preataxic ataxic stages divided into two cohorts. All participants received SV2A-PET imaging...
Abstract Background The immune system likely plays a role in the pathogenesis of spinocerebellar ataxia type 3 (SCA3). Peripheral blood leukocytes are indicative status neurodegenerative diseases. However, alterations characteristics peripheral at different stages SCA3 and their potential roles disease progression remain unclear. Objectives goal was to identify leukocyte profiles analyze correlation with severity. Methods This cross‐sectional study included 150 total ATXN3 expansion carriers...
Abstract Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative caused by abnormal CAG repeats in the exon 10 of ATXN3 . The accumulation mutant ataxin-3 proteins carrying expanded polyglutamine (polyQ) leads to selective degeneration neurons. Since pathogenesis SCA3 has not been fully elucidated, and no effective therapies have identified, it crucial investigate seek new therapeutic strategies SCA3. Induced pluripotent stem...
Abstract Genome-wide association studies have succeeded in identifying genetic variants associated with complex diseases, but the findings not been well interpreted biologically. Although it is widely accepted that epistatic interactions of high- order single nucleotide polymorphisms (SNPs) [(1) Single (SNP) are mainly deoxyribonucleic acid (DNA) sequence caused by at a genome level. They most common type heritable variation humans.] important causes combinatorial explosion millions SNPs and...
The aim of this study was to develop an appropriate parametric survival model predict patient's age at onset (AAO) for spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) populations from mainland China.We compared the efficiency and performance 6 analysis methods (exponential, weibull, log-gaussian, gaussian, log-logistic, logistic) based on cytosine-adenine-guanine (CAG) repeat length ATXN3 probability AAO in largest cohort patients with SCA3/MJD. A set evaluation criteria,...
Abstract Objectives The basic fibroblast growth factor (bFGF)/fibroblast receptor (FGFR) signal transductional pathway plays an important role not only in tumour, but also tumour stem cells. Thus, this study was designed to investigate the effects of bFGF signalling on cancer cells lung cancer. Methods We blocked bFGF/FGFR cisplatin (DDP) selected A549 by knocking down via RNA interference, and subsequently, cell marker OCT-4 determined, proliferation, clone formation, invasiveness,...
DNA methyltransferase 3 alpha (DNMT3A) mutation was one of the most frequent genetic alterations in acute myeloid leukemia (AML), which associated with poor prognosis and appeared to be a potential biomarker. Herein, we aimed identify key genes pathways involved adult AML DNMT3A mutations find possible therapeutic targets for improving treatment.The RNA sequencing datasets 170 patients were obtained from The Cancer Genome Atlas (TCGA) database. EdgeR R platform used differentially expressed...
In polyglutamine (polyQ) disease, the investigation of prediction a patient's age at onset (AAO) facilitates development disease-modifying intervention and underpins delay disease progression. Few polyQ studies have evaluated AAO predicted by machine-learning algorithms linear regression methods.The objective this study was to develop model for in largest spinocerebellar ataxia type 3/Machado-Joseph (SCA3/MJD) population from mainland China.In observational study, we introduced an innovative...
Immediate early response 3 (IER3) plays a vital role in many tumors. This study aims to explore the function and mechanism of IER3 Acute myeloid leukemia (AML). The expression AML was performed by bioinformatics analysis. CCK-8 proliferation assay, flow cytometry cycle clone formation tumorigenic ability were used investigate effect on cells. Unbiased label-free quantitative proteomics phosphoproteomics analysis performed. regulatory relationship between SATB1(Special AT-rich sequence...
Transient receptor potential ankyrin 1 (TRPA1), the non-selective cation channel, was found that can mediate generation of multiple sclerosis, while mechanism is still controversial. Lysophosphatidylcholine (LPC) a critical trigger sclerosis which results from syndrome neuronal inflammation and demyelination. In this work, we suggested TRPA1 LPC-induced oxidative stress cytotoxicity in OLN-93 oligodendrocyte. The expression detected by using quantitative real-time PCR (qRT-PCR)...
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by CAG repeated expansion in ATXN1 gene. We generated induced pluripotent stem cells (iPSCs) from the urine exfoliated epithelial of SCA1 patient using integration-free methods. The derived iPSCs retained mutation (the 65 tracts gene), displayed normal karyotypes, expressed pluripotency markers and had potential to differentiate towards three germ layers vivo. This cell model will be valuable for...
T cell stimulatory and inhibitory molecules are critical for the regulation of immune responses. In this study, we identify a novel co-inhibitory molecule TAPBPL, whose amino acid sequence shares homology with known B7 family members. TAPBPL protein is expressed on resting activated cells, B monocytes, dendritic cells (DCs), as well some tumor tissues. The putative receptor CD4 CD8 cells. A soluble recombinant human TAPBPL-IgG Fc (hTAPBPL-Ig) fusion inhibits proliferation, activation,...
The induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free methods. retained disease-causing ATXN3 mutation, expressed pluripotency markers, exhibited normal karyotype and ability to differentiate into three germ layers in-vitro in-vivo. This newly iPSC could be potential tool for researching disease-specific mechanisms drug screening SCA3/MJD.
Epilepsy is a neurological disorder, characterized by recurrent (two or more) epileptic seizures resulting from excessive and abnormal cortical neural activity.Fibroblasts were collected 10-year-old male with antecedent febrile (PEFS+) carrying heterozygous A > G mutation of Nav1.1 α subunit gene. The induced USTCi001-A retained the mutation, expressed pluripotent markers, showed normal karyotype, displayed in vitro differentiation potential toward cells three embryonic germ layers.
Dravet syndrome is a neurological disorder characterized by treatment-resistant polymorphic seizures, primarily caused loss-of-function in the SCN1A gene. To develop an vitro model of this disease, previously study we generated induced pluripotent stem cell line from 10-year-old boy carrying NM_001165963.1:c.5768A to G (Q1923R) mutation SCN1A. Using TALEN-mediated genome editing, have now isogenic control which disease-causing found epilepsy patient iPSCs was corrected, order eliminate...
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ophthalmoplegia, dysphagia, and distal muscle atrophy. It caused by abnormal expansion of CAG repeats a coding region ATXN3 . However, focusing on itself cannot fully explain heterogeneous features SCA3/MJD. With discovery increasing number long...
Long non-coding RNAs (lncRNAs) play an important role in growth, development, and reproduction undoubtedly contribute to the pathogenesis progression of diseases. Emerging evidence suggests involvement lncRNAs as regulatory factors pathological conditions, including some neurodegenerative Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) has a prominent prevalence China. Because SCA3/MJD not yet been investigated, we conducted pilot study investigate expression profile by...
Urine epithelial cells were harvested from a 32-year old female patient with spinocerebellar ataxia type 3 (SCA3) and reprogrammed into induced pluripotent stem (iPSCs) by non-integration system. The SCA3 derived iPSCs line, CSUXHi005-A, maintained 76 CAG expansions in the ATXN3 gene, was characterized expression of pluripotency markers normal karyotype. newly generated retain ability to differentiate three germ layers teratoma test, which provide an ideal tool for disease modeling, drug...