A5100692473- Amyotrophic Lateral Sclerosis Research
- Atmospheric chemistry and aerosols
- Advanced Sensor and Energy Harvesting Materials
- Cancer, Hypoxia, and Metabolism
- Gas Sensing Nanomaterials and Sensors
- Genetic factors in colorectal cancer
- Multiple and Secondary Primary Cancers
- Neurological diseases and metabolism
- Iron oxide chemistry and applications
- Air Quality and Health Impacts
- Atmospheric Ozone and Climate
- Congenital limb and hand anomalies
- Hemoglobin structure and function
- Nitric Oxide and Endothelin Effects
- Glioma Diagnosis and Treatment
- Dupuytren's Contracture and Treatments
- Clay minerals and soil interactions
- Flame retardant materials and properties
- Ferroptosis and cancer prognosis
- MXene and MAX Phase Materials
- Hedgehog Signaling Pathway Studies
- Cancer-related Molecular Pathways
- Vehicle emissions and performance
- Alzheimer's disease research and treatments
- Restless Legs Syndrome Research
Chinese Academy of Medical Sciences & Peking Union Medical College
2016-2025
Beijing Institute of Fashion Technology
2023-2024
Chengdu University of Information Technology
2024
Peking University
2017-2020
Institute of Basic Medical Sciences of the Chinese Academy of Medical Sciences
2020
State Key Joint Laboratory of Environment Simulation and Pollution Control
2017-2020
State Key Laboratory of Medical Molecular Biology
2016
Colorado State University
1994-1995
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated pathogenesis of amyotrophic lateral sclerosis (ALS), but underlying vivo mechanisms remain unclear. This study examines clinical features ALS patients harboring hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement. To elucidate pathogenesis, we developed a knock-in mouse model carrying p.P36R mutation. In both heterozygous homozygous mutant mice,...
The development prospects of wearable humidity sensors in noninvasive diagnostic and noncontact sensing have attracted more attention. However, most the existing are uncomfortable to wear require complex high-cost fabrication methods, limiting their application continuous real-time detection. Herein, an all-nanofiber sensor, integrating Ti3C2Tx MXene nanosheets with thermoplastic polyurethane (TPU) nanofibers, is proposed by combining electrospinning vacuum magnetron sputtering high...
Objective To study the frequency and clinical features of sleep disturbances in amyotrophic lateral sclerosis (ALS) patients compare disorders between ALS with without mutations. Methods In this case–control study, 204 206 controls were included. We evaluated quality using Pittsburgh Sleep Quality Index (PSQI). Excessive daytime sleepiness (EDS) was diagnosed according to Epworth Sleepiness Scale (ESS). Other characteristics, including rapid eye movement behaviour disorder, restless legs...
Importance Synchronous multiple primary colorectal cancer (sMPCC) is clinically rare, but its incidence has increased over the past decade. However, little known about molecular and clinical features of sMPCC, which may differ from those single (SPCRC). Objective To evaluate characteristics pathogenic variations in lesions typing sMPCC. Design, Setting, Participants From November 2012 to April 2021, patients with (CRC) treated at Sixth Affiliated Hospital Sun Yat-sen University were enrolled...
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive injury of both upper and lower motor neurons. Recently, protein-truncating missense mutations DNAJC7 have been reported in European ALS cohorts. However, the contribution Asian patients with remains unclear. Methods: mutation screening was performed large Chinese cohort comprising 304 sporadic (SALS), 16 familial (FALS), 6 presenting concomitant frontotemporal dementia (FTD)....
MET amplification and exon 14 skipping are well known as oncogenic drivers in multiple cancer types. However, fusions most types poorly defined. To explore the profile analyze characteristics of fusions, a large-cohort study was conducted to screen clinical samples (n = 10 882) using DNA-based NGS. A total 37 potentially functional containing intact tyrosine kinase domain (TKD) were identified 36 samples. Further, 15 novel five types, incidence accounted for 40.5% (15/37). Brain had highest...
To identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD).Blood samples were collected from 9 members (2 affected) family 1 14 (7 2. After genomic DNA was extracted, ZPA regulatory sequence (ZRS) region analyzed with real-time quantitative PCR (qPCR) Sanger sequencing. For 1, haplotypes compassing ZRS also short tandem repeats (STR) single nucleotide changes.No copy number mutation around found both families. Two...
Abstract In this research work, a reusable and efficient 2D/1D heterogeneous structured photocatalyst based on amine-functionalized halloysite nanotubes (MHNTs) Bi 2 WO 6 nanosheet (BWO) was prepared using facile hydrothermal method for decomposing PPCPs under simulated sunlight. On the degradation of tetracycline hydrochloride (TCH), effects composite catalysts various conditions were discussed. The results showed that over BWO/MHNTs with mass ratio 3:1, synthesizing temperature 120 °C...
Background: Amyotrophic lateral sclerosis (ALS) has a complex genetic origin, and how immune dysregulation may contribute to ALS etiology remain unclear. Given the roles played by apolipoprotein E (APOE) signaling in neuroinflammation neurodegeneration, an improved knowledge of association between APOE genotypes risk Chinese population help understand underlying disease. Methods: A retrospective case-control study with participants ancestry was conducted, total 683 patients 369 healthy...
Pathogenic germline variants (PGVs) can play a vital role in the oncogenesis process carriers. Previous studies have recognized that PGVs contribute to early onset of tumorigenesis certain cancer types, for example, colorectal and breast cancer. However, reported prevalence data cancer-associated were highly inconsistent due nonuniform patient cohorts, sequencing methods, prominent difficulties pathogenicity interpretation variants. In addition above difficulties, rarity cases, PGV carriers...
Abstract Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) HOXD13 large Chinese family with SDTY5. order to substantiate pathogenicity variant elucidate underlying pathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed generate Hoxd13 mutant...
To investigate the mechanism of shikonin-induced death human hepatocellular carcinoma SMMC-7721 cells.Cultured cells and normal hepatocytes (L-02 cells) were treated with 4, 8, or 16 μmol/L shikonin, changes in cell viability was assessed using MTT assay. The levels ATP lactic acid cultures detected commercial kits. Co-immunoprecipitation immunofluorescence staining used to determine relationship among pyruvate kinase M2 (PKM2), prolyl hydroxylase 3 (PHD3), hypoxia-inducible factor-1α...
An all-nanofiber wearable humidity sensor, integrating Ti3C2Tx MXene nanosheets with thermoplastic polyurethane (TPU) nanofibers, is proposed by combining electrospinning and vacuum magnetron sputtering high sensitivity, fast response, good anti-interference ability. Benefiting from the 2D/3D multilevel structure Grotthuss chain reaction, sensor exhibits ultrahigh linear sensitivity of 4.52%/RH (within 25%-95% RH), response/recovery time (<3.7 s), wide sensing range (11%-95% RH). Moreover,...
Abstract Background: Glioblastoma (GBM) is the most common and malignant brain tumor. The prognosis of patients with GBM poor, a five-year survival rate 5% median overall 12-16 months. In addition, there high risk for recurrence patient, time 9.5 However, little was reported about degradation recurrence. Methods: Immunohistochemistry (IHC) staining next-generation sequencing (NGS) were conducted to address histopathological molecular features patient. Results: This patient firstly diagnosed...
Abstract Backgrounds: Germline gene alterations in gliomas play a significant role during malignant transformation of progenitor glial cells. Previous pan-caner studies suggested 6-10% patients harboring germline mutations. However, these are limited to only known cancer predisposition genes and small scale patients. In this study, we performed multi-canter, large study investigate the contribution LGG HGG. Methods: Genomic DNA was extracted from white blood cells 1006 1578 HGG subjected...
Abstract Backgrounds:TP53 germline mutation is well known to be the cause of Li-Fraumeni syndrome (LFS), a rare autosomal dominant cancer syndrome, characterized by predisposition breast cancer, soft tissue carcinoma, osteosarcoma, brain and etc. LFS has been reported in cases or small-scale cohorts for decades, while characteristics TP53 mutations carried glioma patients were still less studied due rarity. We performed large-scale retrospective research identify Chinese patients, which...