A5100403239- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Cystic Fibrosis Research Advances
- Thermochemical Biomass Conversion Processes
- Metal Extraction and Bioleaching
- Genetic and Kidney Cyst Diseases
- Extraction and Separation Processes
- Epigenetics and DNA Methylation
- Minerals Flotation and Separation Techniques
- Catalysts for Methane Reforming
- Peptidase Inhibition and Analysis
- Aluminum Alloys Composites Properties
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Geotechnical Engineering and Analysis
- Mineral Processing and Grinding
- Neurological disorders and treatments
- Iron and Steelmaking Processes
- Cancer-related gene regulation
- Ginseng Biological Effects and Applications
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Neurogenetic and Muscular Disorders Research
- Geotechnical Engineering and Underground Structures
- Microstructure and mechanical properties
Central South University
2018-2025
Zhuzhou Central Hospital
2023-2024
Second Xiangya Hospital of Central South University
2021-2023
Xiangya Hospital Central South University
2018-2022
Hunan Provincial Center for Disease Control and Prevention
2022
State Key Laboratory of Respiratory Disease
2022
BGI Group (China)
2020-2021
Chinese Academy of Medical Sciences & Peking Union Medical College
2019-2020
Peking Union Medical College Hospital
2019-2020
Children's Hospital of Capital Institute of Pediatrics
2020
De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome (WGS) provide effective methods for detecting DNMs prioritizing candidate genes. However, it remains a challenge scientists, clinicians, biologists conveniently access analyse data regarding genes from scattered publications. To fill the unmet need, we integrated 580 799 DNMs, including 30 060 coding detected by WES/WGS 23 951...
The aim of this study is to evaluate the diagnostic value genome sequencing in children with epilepsy, and provide sequencing-based insights into molecular genetic mechanisms epilepsy help establish accurate diagnoses, design appropriate treatments assist counselling. We performed on 320 Chinese interpreted single-nucleotide variants copy number all samples. complete pedigree clinical data probands were established followed up. phenotypes, treatments, prognoses genotypes patients analysed....
Background Pulmonary fibrosis is one of the sequelae COVID-19, which seriously affects quality life survivors. Currently, there are no optimal evidence based guidelines targeting this population. Case Presentation We report a 66-year-old female patient without underlying comorbidities admitted to Changsha Public Health Center because COVID-19. During hospitalization, she developed co-bacterial infection and acute respiratory distress syndrome, received broad-spectrum antibacterial therapy,...
The serious environmental pollution and human health risks caused by highly toxic cyanide have necessitated the search for a nontoxic alternative lixiviant. However, conventional chemical thiosulfate suffers from high consumption, which makes commercialization of non-cyanide green extraction precious metals difficult. Therefore, development low-energy technology producing sulfur-containing materials is academic industrial interest. Herein, process mechanism at atmospheric pressure was first...
<title>Abstract</title> <bold>Background:</bold>Over 80 million people reside above 2,500 meters, where hypobaric hypoxia elevates the risk of hypoxic pulmonary hypertension (HPH). In Qinghai, China (>3,000 m), over 5 face a high HPH burden amid scarce medical resources. <bold>Objective: </bold>To assess factors and clinical correlates severity mortality in high-altitude residents using echocardiography. <bold>Methods: </bold>This retrospective study included 627 patients diagnosed with...
Abstract Non-coding variants in the human genome significantly influence traits and complex diseases via their regulation modification effects. Hence, an increasing number of computational methods are developed to predict effects non-coding sequences. However, it is difficult for inexperienced users select appropriate from dozens available methods. To solve this issue, we assessed 12 performance metrics 24 on four independent variant benchmark datasets: (1) rare germline clinical relevant...
Metastasis is the leading cause of lung cancer-associated death. Downregulated expression E-cadherin followed by epithelial-mesenchymal transition (EMT) critical for metastasis initiation in cancer. BTBD7 plays essential roles cancer metastasis, but mechanisms remain unknown. This study aimed to investigate relationship between and explore role EMT. Fresh paracancer tissue specimens were collected from 30 patients, BTBD7, E-cadherin, N-cadherin, fibronectin, vimentin was analyzed qRT-PCR,...
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a mutation that can be identified single-gene sequencing or gene-panel targeting FBN1. However, small proportion carry large genomic deletion FBN1, which cannot detected routine sequencing. Here, we performed MLPA (multiplex ligation-dependent probe amplification) test to detect deletions and/or duplications and TGFBR2 115 unrelated...
Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins. CCDC40 variants can cause PCD via disrupting the assembling inner dynein and regulating complex in cilia flagella, but none has been reported associated with multiple morphological abnormalities sperm flagella (MMAF). We identified validated disease-causing our patient whole-exome Sanger sequencing. used high-speed video microscopy analysis (HSVA) immunofluorescence...
The anisotropy of mechanical properties limits the applications Al–Cu–Li alloys. In this study, microstructure evolution and an alloy via room-temperature rolling (RTR), cross (RCR), cryorolling (CR) (CCR) were investigated. processing by CCR gave highest ultimate tensile strength 471 MPa elongation 8.4% along direction (RD). diagonal (DD) was higher than those processed CR, RCR, RTR. in-plane (IPA) factor (3.26%) indicated its relatively low strength. Kernel average mapping (KAM) showed...
Ginsenoside compound K (GC-K) potentially alleviates ulcerative colitis involved in gut microbiota, which is significantly associated with the occurrence and development of colitis. However, effect mechanism GC-K on anti-colitis relation to microbiota are not clear. This study focused prevention Dextran sulfate sodium (DSS)-induced mice pertinent microbiota.DSS was used establish a chronic mouse model. Body weight analysis, colon length measurement, HE staining, inflammatory factors levels...
ADAM metallopeptidase domain 12 (ADAM12) has been demonstrated to mediate cell proliferation and apoptosis resistance in several types of cancer cells. However, the effect ADAM12 silencing on choriocarcinoma cells remains unknown. The present study revealed that significantly inhibited cellular activity human JEG3 line increased rate apoptosis. In addition, expression levels autophagy proteins microtubule‑associated protein‑light‑chain 3 (LC3B) related 5 (ATG5) fluorescence density LC3B...
The radial spoke head component 4A (