A5101487557- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Medical Imaging and Pathology Studies
- Thyroid and Parathyroid Surgery
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Advanced biosensing and bioanalysis techniques
- Non-Destructive Testing Techniques
- Parathyroid Disorders and Treatments
- Hereditary Neurological Disorders
- Quantum-Dot Cellular Automata
- Dysphagia Assessment and Management
- Combustion and Detonation Processes
- High-Velocity Impact and Material Behavior
- Tracheal and airway disorders
- Machine Learning in Bioinformatics
- Neurogenetic and Muscular Disorders Research
- Magnetic Properties and Applications
- Disaster Response and Management
- Spine and Intervertebral Disc Pathology
- Cyclone Separators and Fluid Dynamics
- Fluid Dynamics and Mixing
Shanghai Jiao Tong University
2025
Second Affiliated Hospital of Zhejiang University
2019-2025
Sun Yat-sen University
2025
South China University of Technology
2025
SYSU-CMU International Joint Research Institute
2025
Zhejiang University
2019-2024
Fuzhou University
2024
Hangzhou Dianzi University
2023
Qingdao University
2023
JiangSu Armed Police General Hospital
2005
Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other regions, commonly presents motor, psychiatric, cognitive symptoms. Currently, four autosomal dominant (SLC20A2, PDGFRB, PDGFB, XPR1) one recessive (MYORG) causative genes have been identified. Compared with patients primary calcification, form of present more severe clinical imaging phenotypes, deserve research attention. Biallelic mutations MYORG cannot...
Organic memories, with small dimension, fast speed and long retention features, are considered as promising candidates for massive data archiving. In order to satisfy the re-quirements ultra-low power high-security information storage, we design a concep-tual molecular hard-disk (HDD) logic scheme that is capable execute in-situ encryption of in pW/bit power-consumption range. Beneficial from coupled mechanism counter-balanced redox reaction local ion drifting, basic HDD unit consisting ~...
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, Parkinson's (PD). However, the genotype-phenotype correlation underlying mechanism mostly unknown. We screened RFC1-repeat expansions 1445 patients with parkinsonism. Comprehensive genetic clinical, pathological...
Organic memories, with small dimension, fast speed and long retention features, are considered as promising candidates for massive data archiving. In order to satisfy the requirements ultra-low power high-security information storage, we design a conceptual molecular hard-disk (HDD) logic scheme that is capable execute in-situ encryption of in pW/bit power-consumption range. Beneficial from coupled mechanism counter-balanced redox reaction local ion drifting, basic HDD unit consisting ~200...
During oil and gas field development, hilly terrain pipelines for mixed transportation often face challenges from liquid loading, which significantly impacts flow assurance. However, the intricate nonlinear relationship between loading pipeline system operations complicates solution of holdup in practical by using traditional mechanistic models. Research combining machine learning (ML) prediction is limited, most studies focus solely on validating accuracy efficiency ML models without...
Primary brain calcification (PBC) is a monogenic inherited disease characterized by calcifications in basal ganglia and other regions, with seven causative genes identified highly heterogeneous genetic phenotypic spectrum. The objective was to update the spectrum of PBC large cohort from China. Five hundred eighty-four families were enrolled. Brain assessed total score (TCS). Sanger sequencing SLC20A2 whole-exome performed. Variants classified American College Medical Genetics Genomics...
Lysosomes maintain an acidic pH of 4.5-5.0, optimal for macromolecular degradation. Whereas proton influx is produced by a V-type H+ ATPase, efflux mediated fast leak through TMEM175 channels, as well unidentified slow pathway. A candidate screen on orphan lysosome membrane protein (OLMP) library enabled us to discover that SLC7A11, the target ferroptosis-inducing compound erastin, mediates lysosomal downward flux cystine and glutamate, two equivalents with uniquely large but opposite...
The limited capacity of adult mammalian cardiomyocytes to undergo cell division and proliferation is one the key factors contributing heart failure. In newborn mice, cardiac occurs during a brief window, but this proliferative diminishes by 7 days after birth. Current studies on regeneration focused elucidating changes in regulatory within before aiming determine whether potential association between these cycle arrest cardiomyocytes. Facilitating re-entry into or reversing their exit from...
The GGC repeat expansion in the NOTCH2NLC gene has been identified as genetic cause of neuronal intranuclear inclusion disease (NIID). Recently, this was also reported to be associated with essential tremor (ET). However, some patients expansion, initially diagnosed ET, were eventually NIID. Therefore, controversy remains regarding clinical diagnosis these expansion-positive presenting tremor-dominant symptoms. This study aimed clarify phenotype who have gene.We screened for pathogenic...
Intronic (TTTCA)n insertions in the SAMD12, TNRC6A, and RAPGEF2 genes have been identified as causes of familial cortical myoclonic tremor with epilepsy.To identify cause epilepsy pedigrees without RAPGEF2.Repeat-primed polymerase chain reaction, long-range Sanger sequencing were performed to existence a novel (TTTGA)n insertion. Targeted long-read was confirm accurate structure insertion.We expanded intronic insertion at same site previously reported SAMD12. This cosegregated 1 Chinese...
Abstract Background Recently, the LRP10 gene has been identified as a novel genetic cause in individuals affected by Parkinson's disease (PD), dementia, or dementia with Lewy bodies. Objective We investigated involvement of mutations Chinese patients familial PD and reviewed previous studies PD. Methods A mutation analysis was performed cohort 205 unrelated Burden conducted using data from Genome Aggregation Database 5 (including our cohort). Results total 3 potentially pathogenic variants,...
Abstract Background Intronic pentanucleotide insertion in the sterile alpha motif domain‐containing 12 gene was recently identified as genetic cause of familial cortical myoclonic tremor with epilepsy type 1. Objectives We thereafter conducted a multimodal MRI research to further understand Methods enrolled 31 patients carrying heterozygous pathogenic intronic and age‐ sex‐matched healthy controls. compared metrics, including voxel‐based morphometry, fractional anisotropy diffuse tensor...
Abstract Background Primary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown over half of PFBC patients, indicating existence additional novel causative genes. NAA60 was recently reported gene for PFBC. Objective aim to identify probable an autosomal recessive inherited family. Methods We performed comprehensive study on consanguineous Chinese family with 3 siblings diagnosed evaluated effect...
Recently, the pathogenic and intermediate GGC repeat expansion in NOTCH2NLC was detected Parkinson's disease (PD). However, detailed clinical, neuroimaging, pathological information of clinically diagnosed PD patients with remains scarce. Thus, we aimed to elucidate characteristics carrying NOTCH2NLC.The screened 941 sporadic 244 unrelated probands. Comprehensive assessments were performed three NOTCH2NLC. The length estimated using CRISPR/Cas9-based targeted long-read sequencing.The (two...
Abstract Background Biallelic mutations in the MYORG gene were first identified as cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited calcifications. Objectives To further investigate role single development Methods A nation‐wide cohort Chinese calcification probands was enrolled from March 2016 through September 2019. Mutational analysis performed 435 who negative for other four known calcification–causative genes (...
Objective Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities the retina. However, relationship between retinal changes, disease severity, and intracranial alterations remains unknown. We investigated distinct thinning patterns their with clinical severity in PSP cohort.Methods enrolled 19 patients (38 eyes) 20 age-matched healthy controls (40 eyes). All participants underwent peripapillary macular...
Although previous imaging studies have reported cerebellar gray matter loss in patients with familial cortical myoclonic tremor epilepsy (FCMTE), the corresponding white alterations remain unknown. We investigated structural changes FCMTE1 and compared them clinical electrophysiological features.We enrolled 36 carrying heterozygous pathogenic intronic pentanucleotide insertions SAMD12 gene 52 age- sex-matched healthy controls. Diffusion tensor imaging-derived metrics, including fractional...