A5086697056- Cardiomyopathy and Myosin Studies
- Congenital heart defects research
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Hereditary Neurological Disorders
- Endoplasmic Reticulum Stress and Disease
- Lipoproteins and Cardiovascular Health
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Cardiovascular Effects of Exercise
- Hedgehog Signaling Pathway Studies
- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- Congenital Heart Disease Studies
- RNA regulation and disease
- Genetic factors in colorectal cancer
- Metabolism and Genetic Disorders
- Cholesterol and Lipid Metabolism
- Cancer, Lipids, and Metabolism
- Hemoglobinopathies and Related Disorders
- Connexins and lens biology
Central South University
2016-2025
Second Xiangya Hospital of Central South University
2015-2025
Third Xiangya Hospital
2020-2024
Xiangya Hospital Central South University
2022-2023
Qingdao University
2020-2023
Affiliated Hospital of Qingdao University
2020-2023
Hebei General Hospital
2021
Model Animal Research Center
2021
Huainan Normal University
2017
Bengbu Medical College
2017
Abstract Reticulon 3 (RTN3), an endoplasmic reticulum protein, is crucial in neurodegenerative and kidney diseases. However, the role of RTN3 liver tissues has not been described. Here, we employed public datasets, patients, several animal models to explore nonalcoholic fatty disease (NAFLD). The underlying mechanisms were studied primary hepatocytes L02 cells vitro. We found increased expression NAFLD high‐fat diet mice, oxidized low‐density lipoprotein‐treated cells. transgenic mice...
Background: Sudden cardiac death (SCD), unexpected based on sudden ejection cessation, accounts for 15–20% of unnatural deaths in developed countries. Primary electrical disorders (PEDs), a group rhythm abnormalities without detectable structural heart disease, are major cause SCD people younger than 35 years age. Cardiac muscle contraction and relaxation triggered by the action potential (AP), which is generated ionic changes across cell membrane. Thus, PEDs influenced mutations...
ABSTRACT Objective This study aimed to identify genetic variants and their functional consequences underlying Unexplained Recurrent Pregnancy Loss (uRPL) through comprehensive genomic transcriptomic analyses. Methods We recruited 13 Chinese uRPL patients performed Whole Exome Sequencing (WES) on chorionic villi samples from miscarriage tissues. Additionally, we conducted an integrative analysis using single‐cell RNA sequencing data decidual immune cells examine expression patterns. Results...
Background: Reticulon 3 (RTN3) is an endoplasmic reticulum protein that has previously been shown to play a role in neurodegenerative diseases, but little known about its lipid metabolism. Methods: Obese patients (n=149), hypertriglyceridemic (n=343), and healthy control subjects (n=84) were enrolled assess their levels of RTN3. To explore the pathophysiological roles RTN3 metabolism, we used transgenic mice overexpressing wild-type human gene, RTN3-null mouse model, multiple Caenorhabditis...
Clear cell renal carcinoma (ccRCC) is a common genitourinary cancer type with high mortality rate. Due to diverse range of biochemical alterations and level tumor heterogeneity, it crucial select highly validated prognostic biomarkers be able identify subtypes ccRCC early apply precision medicine approaches.
Abstract Background Hypertrophic cardiomyopathy (HCM) is a serious disorder and one of the leading causes mortality worldwide. HCM characterized as left ventricular hypertrophy in absence any other loading conditions. In previous studies, mutations at least 50 genes have been identified patients. Methods this research, genetic lesion an patient was by whole exome sequencing. Real-time polymerase chain reaction (PCR), immunofluorescence Western blot were used to analyze effects mutation....
Abstract The discovery of the endothelium as a major regulator vascular tone triggered intense research among basic and clinical investigators to unravel physiologic pathophysiologic significance this phenomenon. Sphingosine‐l‐phosphate (S1P), derived from endothelium, is significant blood pressure. However, mechanisms underlying regulation S1P biosynthetic pathways in arteries remain be further clarified. Here, we reported that Reticulon 3 (RTN3) regulated endothelial sphingolipid...
Chronic kidney disease (CKD) poses a significant global health dilemma, emerging from complex causes. Although our prior research has indicated that deficiency in Reticulon-3 (RTN3) accelerates renal progression, thorough examination of RTN3 on function and pathology remains underexplored. To address this critical need, we generated Rtn3-null mice to study the consequences protein CKD. Single-cell transcriptomic analyses were performed 47,885 cells cortex both healthy mice, enabling us...
Dilated cardiomyopathy (DCM) is a severe cardiovascular disease which can lead to heart failure and sudden cardiac death (SCD). The typical feature of DCM left ventricular enlargement or dilatation. In some conditions, arrhythmia occur concurrently, apparently promoting the prevalence SCD. According previous studies, mutations in more than 100 genes have been detected and/or patients. Here, we report Chinese family with DCM, tachycardia, syncope, Using whole-exome sequencing, novel, likely...
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by germline mutation in the STK11 gene. It characterized mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.We aimed to summarize main clinical genetic features of Chinese PJS patients assessed genotype-phenotype correlations.Thirty-eight clinically diagnosed with were included this study from 2016 2019. Combined direct sequencing multiplex ligation-dependent probe...
Abstract Cardiac conduction disease (CCD) is a serious disorder and the leading cause of mortality worldwide. It characterized by arrhythmia, syncope or even sudden cardiac death caused dysfunction voltage‐gated channel. Previous study has demonstrated that mutations in genes encoding channel related proteins were crucial genetic lesion CCD. In this study, we employed whole‐exome sequencing to explore potential causative Chinese family with ventricular tachycardia syncope. A novel nonsense...
Hypertrophic cardiomyopathy (HCM) is a hereditary disease manifested by thickened ventricular wall. Cysteine and glycine-rich protein 3 (CSRP3), the gene encoding muscle LIM protein, important for initiating hypertrophic expression. The mutation of CSRP3 causes dilated or HCM.In present study, we enrolled Chinese family with HCM across three generations. Whole-exome sequencing (WES) was performed in proband to detect candidate genes family. Sanger mutational analysis confirmation...
Abstract Reticulon 3 (RTN3) is an endoplasmic reticulum protein that has previously been shown to play roles in neurodegenerative diseases, but little known about its function the kidneys. The aim of present study was clarify RTN3 chronic kidney disease (CKD) and fibrosis. In this study, levels were measured tissues from healthy controls CKD or fibrosis patients. An RTN3-null mouse model generated explore pathophysiological underlying mechanisms studied primary proximal tubular epithelial...
Summary Background Idiopathic pulmonary fibrosis (IPF) is increasingly recognized as a chronic, progressive and fatal lung disease with an unknown etiology. Current studies focus on revealing the genetic factors in risk of IPF, making integrative analysis variations transcriptomic alterations substantial value. Aim This study aimed to improve understanding molecular basis IPF through whole-exome sequencing (WES), bulk RNA (RNA-seq) single-cell (scRNA-seq) data. Methods WES powerful tool for...
Background: Hereditary sensory and autonomic neuropathies (HSAN) are a rare severe group of axonal neuropathies. HSAN have been classified into eight groups based on inheritance, clinical features the related genes. And HSAN-VI perhaps is most notable one. an autosomal recessive disease, which manifests severely impaired pain sensitivity, disturbances, distal myopathy, spontaneous or surgical amputations, even early death. Genetic researches indicate that DST causative gene. encodes...
Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle or complex overlapping disorders muscles.We applied whole-exome sequencing (WES) to investigate and cardiomyopathy-related gene-filtering strategy was used analyze the disease-causing mutations. Sanger confirm mutation cosegregation affected families.A nonsense...