A5100707954- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Ocular Diseases and Behçet’s Syndrome
- RNA regulation and disease
- Retinal and Optic Conditions
- Glaucoma and retinal disorders
- melanin and skin pigmentation
- Genomics and Phylogenetic Studies
- Connexins and lens biology
- Connective tissue disorders research
- RNA modifications and cancer
- Genetic and Kidney Cyst Diseases
- interferon and immune responses
- Mitochondrial Function and Pathology
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Dupuytren's Contracture and Treatments
- PI3K/AKT/mTOR signaling in cancer
- Advanced biosensing and bioanalysis techniques
- Retinopathy of Prematurity Studies
- Genomic variations and chromosomal abnormalities
- Microbial metabolism and enzyme function
- Congenital limb and hand anomalies
- Genetic and rare skin diseases.
- Bone and Dental Protein Studies
Peking Union Medical College Hospital
2015-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2015-2024
Changzhi Medical College
2024
Weifang People's Hospital
2022
Capital Institute of Pediatrics
2021
Shanghai Tenth People's Hospital
2016
Tongji University
2016
Creative Commons
2016
National Natural Science Foundation of China
2016
Academy of Medical Sciences
2012-2013
Purpose.: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in Chinese population, we performed a screen 145 LCA families. Methods.: First, direct Sanger sequencing of 7 genes 81 Next, developed capture panel enriches entire coding exons and splicing sites 163 known other candidate genes. The allowed us to quickly identify disease-causing mutations large number at relatively low cost. Thus,...
Accumulated evidences indicate that single nucleotide polymorphisms (SNP) are associated with risk of hepatocellular carcinoma (HCC). Activating transcription factor 6 (ATF6) is an important modulator the unfolded protein response (UPR), which regarded to be involved in carcinogenesis. So we speculate SNPs ATF6 may susceptibility HCC. We carried out a two-stage association study three independent case-control groups total 1,082 chronic hepatitis B (CHB) patients and 816 virus (HBV) related...
Aims To reveal the Usher syndrome type IIA ( USH2A ) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or II (USH2) and to explore genotype–phenotype correlation. Methods Targeted exome capture plus next-generation sequencing confirmed that 284 from 260 unrelated families carried disease-associated variants. Both personal medical history family histories were reviewed. Ocular examinations performed audiograms recorded if hearing loss was...
: Infection by carbapenem-resistant Pseudomonas aeruginosa (CRPA) is a serious clinical problem worldwide. However, the molecular epidemiology of isolates varies depending on region. This study was conducted to analyze resistance phenotype and clarify genetic epidemiological properties CRPA from southeast Shanxi, China. Methods: Fifty-seven were collected hospital in this These re-identified MALDI-TOF subjected whole-genome sequencing next-generation sequencing. Phylogenetic trees...
Purpose: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD). Methods: Fifty-one diagnosed OMD harboring monoallelic pathogenic variants (Miyake disease) from Japan, South Korea, and China were enrolled. Patients classified into genotype groups: group A, p.R45W, B, missense located between amino acids (aa) 1196 1201. The parameters genotypes compared, deep learning based on spectral-domain optical coherence tomographic...
The genetic heterogeneity of Mendelian disorders results in a significant proportion patients that are unable to be assigned confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here, we evaluated how many with an inherited retinal disease (IRD) have variants uncertain significance (VUS) disrupting splicing known IRD gene by means other than affecting the canonical dinucleotide splice site. Three silico splice-affecting predictors were leveraged...
Chromatin remodeling has been newly established as an important cancer genome characterization and recent exome whole-genome sequencing studies of hepatocellular carcinoma (HCC) showed that recurrent inactivating mutations in SWI/SNF subunits involved the molecular basis hepatocarcinogenesis. To test hypothesis genetic variants key complexes may contribute to HCC susceptibility, we systematically assessed associations with risk using a two-staged case-control study Chinese population. A set...
Purpose: This study investigated a three-dimensional indicator in spectral-domain optical coherence tomography (SD-OCT) and established phenotype-genotype correlation X-linked retinoschisis (XLRS). Methods: Thirty-seven patients with XLRS underwent comprehensive ophthalmic examinations, including visual acuity (VA), fundus examination, electroretinogram (ERG), SD-OCT. SD-OCT parameters of central foveal thickness (CFT), cyst cavity volume (CCV), photoreceptor outer segment length were...
Purpose: To delineate the natural history of visual function parameters over time in individuals with Bietti crystalline dystrophy. Methods: This was a single-center retrospective longitudinal cohort study. Participants (n = 29) clinical diagnosis dystrophy who harbored two alleles disease-causing variants cytochrome P450 family 4 subfamily V member 2 gene (CYP4V2) were enrolled. Best-corrected acuity (BCVA), field (VF), and full-field ERG (ffERG) at baseline their changes during follow-up...
Accumulated evidences indicate that single nucleotide polymorphisms (SNP) in angiogenesis and tumorigenesis related genes are associated with risk of hepatocellular carcinoma (HCC). Vascular endothelial growth factor A (VEGFA), one the most significant mediators angiogenesis, plays an important role carcinogenesis development via promoting tumor growth. We carried out a two-stage association study 1,838 chronic hepatitis B (CHB) patients 1,207 virus (HBV) HCC Han Chinese populations from...
The aim of this study was to examine changes in photoreceptor ellipsoid zone (EZ) and postreceptor retinal layer retinitis pigmentosa (RP) patients by ganglion cell analysis (GCA) combined with optical coherence tomography (OCT) imaging evaluate the structure–function relationships between best corrected visual acuity (BCVA). Sixty-eight eyes 35 RP 65 normal controls were analyzed study. average length EZ 911.1 ± 208.8 μm patients, which shortened progression disease on OCT images....
<h3>Objective</h3> To study the clinical features and to identify pathogenic mutations in Chinese patients with achromatopsia (ACHM). <h3>Design</h3> Fifteen from 10 unrelated families were included this study. Detailed ocular examinations performed for affected subjects, including best-corrected visual acuity (BCVA), colour vision, slit lamp, fundus, electroretinography, perimetry, spectral domain optical coherent topography (SD-OCT). Peripheral blood samples obtained all of their family...
To describe the functional phenotypic features of East Asian patients with RP1L1-associated occult macular dystrophy (ie, Miyake disease).An international multicenter retrospective cohort study.Twenty-eight participants (53 eyes) disease were enrolled at 3 centers (in Japan, China, and South Korea). Ophthalmologic examinations including spectral-domain optical coherence tomography (SDOCT) multifocal electroretinogram (mfERG) performed. Patients classified into groups based on mfERG: Group 1,...
Hepatocellular carcinoma (HCC) is a disease of multiple etiologies caused by the accumulation genetic and epigenetic defects. Current evidence indicates that transforming growth factor beta (TGF-β) signaling pathway has significant impact on different cellular process. Members TGF-β superfamily (TGF-β1, type I receptor [TβRI], II [TβRII], III receptor]) play an important role in tumorigenesis. Numerous studies show polymorphisms genes are associated with HCC East Asian populations. We...
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health disease. Here, we show that BCL6 co-repressor (BCOR), a Polycomb repressive complex 1 factor mutated various cancers, involved degenerative diseases. Using proteomics assays, report BCOR interacts with CRX OTX2 reduces their ability to activate promoters photoreceptor-specific genes. CUT&RUN...