A5100432222- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Glaucoma and retinal disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Retinal Diseases and Treatments
- Alzheimer's disease research and treatments
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- Retinal Development and Disorders
- Retinal Imaging and Analysis
- Proteoglycans and glycosaminoglycans research
- Traumatic Brain Injury and Neurovascular Disturbances
- Mitochondrial Function and Pathology
- Prion Diseases and Protein Misfolding
- Muscle Physiology and Disorders
- Prenatal Screening and Diagnostics
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Genetic Associations and Epidemiology
- Nerve injury and regeneration
- Restless Legs Syndrome Research
- Advanced Glycation End Products research
- Biochemical Acid Research Studies
- Ocular Diseases and Behçet’s Syndrome
National Clinical Research Center for Digestive Diseases
2025
National Center for Nanoscience and Technology
2024-2025
Beijing University of Chemical Technology
2024-2025
Beijing Tian Tan Hospital
2021-2025
Capital Medical University
2020-2025
Peking Union Medical College Hospital
2017-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2017-2024
VA San Diego Healthcare System
2024
BGI Group (China)
2023
First Hospital of Jilin University
2023
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,...
Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment in developed world. The two forms advanced AMD, geographic atrophy (GA) and choroidal neovascularization (wet AMD), represent types degenerative processes macula that lead to loss central vision. Soft confluent drusen, characterized by deposits without are considered a precursor AMD. A single nucleotide polymorphism, rs11200638, promoter HTRA1 has been shown increases risk for wet However, its...
To investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients and without cognitive dementia.Sequencing all coding exons ANXA11 intron-exon boundaries 18 familial (FALS), 353 unrelated sporadic (SALS), 12 ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts peripheral blood generated from splicing mutation were examined by reverse transcriptase PCR.We identified 6 nonsynonymous heterozygous mutations (5 novel 1...
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in developed countries. A large number human genetic studies have associated a common variant (Y402H) complement factor H (CFH) with highly significant increase AMD risk. CFH modular protein 20 homologous short consensus repeats (SCRs). The Y402H located SCR7 both and H-like 1 (FHL-1), splice (containing SCR1−7) unique biochemical properties. Because known to bind heparin, C-reactive (CRP), M from...
Exfoliation glaucoma (XFG) is the commonest identifiable cause of secondary open-angle worldwide, characterized by deposition fibrillar proteins in anterior segment eye. We investigated LOXL1 gene variants previously identified to confer susceptibility exfoliation a Utah Caucasian cohort. After standard eye examination protocol we genotyped SNPs rs2165241 and rs3825942 62 XFG or XFS patients 170 normal controls. Genotype frequency distribution, odds ratios (ORs), population attributable...
Objective: To evaluate serum creatine kinase (CK) levels of amyotrophic lateral sclerosis (ALS) patients and to explore the relationship between CK clinical characteristics survival prognosis ALS patients. Methods: We analyzed 185 who underwent long-term follow-up. The features including sex, age, disease duration, site onset, body mass index, creatinine spontaneous electromyographic activity were by univariate analysis multiple linear regression. Kaplan–Meier Cox proportional hazards models...
The highly pathogenic avian influenza virus A(H5N1) clade 2.3.4.4b has caused a human outbreak in North America since March 2024. Here, we conducted serosurveillance study to determine the risk of (2024 cattle H5N1) general population. In initial screening 180 serum specimens encompassing all age groups, 2.2% (4/180) had detectable neutralizing antibody (nAb) titers against reverse genetics-derived 2024 H5N1, with collected from older adults aged ≥60 years old. Further showed that 4.2%...
Background Rare ERBB4 variants have been implicated in amyotrophic lateral sclerosis (ALS), but their prevalence and clinical significance remain poorly understood, particularly across different ethnic populations. Methods We performed genetic screening of 1627 Chinese ALS patients using whole-exome sequencing. A systematic review meta-analysis the published literature were conducted to evaluate global frequency correlations. Results identified 14 missense 6 splice region 23 unrelated...
To characterize the patterns of brain atrophy and perfusion as measured by arterial spin labeling (ASL)-MRI, in amyotrophic lateral sclerosis (ALS) patients with varying levels cognitive deficit, including ALS frontotemporal dementia (FTD).A total 55 20 healthy controls (HCs) were included, all participants underwent neuropsychological assessments MRI scans. According to their performance, further subclassified into normal cognition (ALS-Cn, n = 27), impairment (ALS-Ci, 17), ALS-FTD (n 11)....
This is a case-control study to investigate the prevalence, characteristics, and risk factors of pain in patients with Parkinson's disease (PD).A total 200 PD from eastern China were enrolled our study. Accordingly, healthy elderly adults recruited as controls. The characteristics collected by using Visual Analog Scale, Brief Pain Inventory (BPI), SF-36 Bodily Unified Disease Rating Hoehn-Yahr Scale (H-Y), Hamilton Depression Leeds Assessment Neuropathic Symptoms Signs.Of patients, was...
Atherosclerotic prone-rupture plaque is mainly localized in the region of entrance to stenosis with high shear stress and reasons are largely unknown. Our hypothesis that such a distribution cells atherosclerotic may depend on angiogenesis. Silastic collars induced regions (20.68 ± 5.27 dynes/cm2) upstream flow low (12.25 1.28 downstream carotid arteries. Compared region, plaques showed more intraplaque haemorrhaging, less collagen higher apoptotic rates vascular smooth muscle cells;...
Background: The muscle patterns involved in the "split-leg" syndrome of amyotrophic lateral sclerosis (ALS) remains controversial. We sought to evaluate and reassess pattern extensor digitorum brevis (EDB) abductor hallucis (AH) muscles' involvement split-leg ALS. Methods: recruited 60 consecutive patients with ALS 25 healthy controls (HCs). Compound action potentials (CMAPs) F-waves were recorded over EDB AH muscles all subjects. For comparison, we classified into two categories based on...
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...
The F-wave test allows for the non-invasive assessment of spinal motoneuron excitability. We investigated difference in dysfunction between first dorsal interosseous (FDI) and abductor digit minimi (ADM) muscles by investigating F-waves to assess contribution mechanisms split-hand syndrome patients with amyotrophic lateral sclerosis (ALS). Sixty-five consecutive ALS twenty age- gender-matched healthy controls (HCs) were enrolled. Motor nerve conduction studies performed bilaterally on median...
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)....
Background: Ongoing efforts have been made to identify new neuroimaging markers track amyotrophic lateral sclerosis (ALS) progression. This study aimed explore the monitoring value of multimodal magnetic resonance imaging (MRI) in disease progression ALS. Methods: From September 2015 March 2017, ten patients diagnosed with ALS Peking Union Medical College Hospital completed head MRI scans at baseline and during follow-up. Multimodal analyses, including gray matter (GM) volume measured by...
<h3>Background</h3> Low-pass genome sequencing (LP GS) is an alternative to chromosomal microarray analysis (CMA). However, validations of LP GS as a prenatal diagnostic test for amniotic fluid are rare. Moreover, depth in diagnosis has not been evaluated. <h3>Objective</h3> The performance was compared with CMA using 375 samples. Then, evaluated by downsampling. <h3>Results</h3> and had the same yield (8.3%, 31/375). showed all copy number variations (CNVs) detected six additional variant...