A5102886989- Hemophilia Treatment and Research
- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Metabolism, Diabetes, and Cancer
- Nanofabrication and Lithography Techniques
- Blood properties and coagulation
- Blood Coagulation and Thrombosis Mechanisms
- Cancer-related gene regulation
- Traditional Chinese Medicine Studies
- Platelet Disorders and Treatments
- Allergic Rhinitis and Sensitization
- Reproductive Biology and Fertility
- Total Knee Arthroplasty Outcomes
- Plant Molecular Biology Research
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Reproductive System and Pregnancy
- Cellular Mechanics and Interactions
- Nanomaterials and Printing Technologies
- Hearing, Cochlea, Tinnitus, Genetics
- Microtubule and mitosis dynamics
- Hemostasis and retained surgical items
- Erythrocyte Function and Pathophysiology
- Genomics and Phylogenetic Studies
- Connexins and lens biology
Guangxi Medical University
2023-2025
Weatherford College
2023
First Affiliated Hospital of GuangXi Medical University
2023
Peking University
2019
CM Hospital
1996
Immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF) is a rare genetic disease characterized by hypogammaglobulinemia, T cell immune deficiency with age, pericentromeric hypomethylation, abnormalities, intellectual disability. This study aimed to investigate the phenotype function of girl ICF2, identify her defect, explore potential pathogenic mechanisms disease. We identified homologous deletion mutation in this girl, which involves exons 1-5 part introns 1 6...
ABSTRACT Patterned materials on substrates are of great importance for a wide variety applications. In solution-based approaches to material patterning, fluidic flow is inevitable. Here we demonstrate not only the behavior but also methodology engineering pattern guide crystallization and assembly. We show by both experiment simulation that substrate heating, which generally used accelerate evaporation, produces irregular complex vortexes. Instead, top-heating–bottom-cooling (THBC) set-up...
We report a morphological manipulation of cell division which was achieved by changing the environment from isotonic to highly hypotonic. Cells at telophase were observed undergo reversal anaphase, with contractile ring being reopened and shape reversing dumb-bell back spherical. Once restored isosmotic environment, reversed cells would either continue divide or instead form binuclear that further proliferated in runaway fashions. The immunofluorescent staining tubulins myosin II indicated...
ABSTRACT Background Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified heterozygous nonsense mutation, p.Arg17Stop, in the Bβ chain three‐month‐old female infant. Methods Coagulation testing, gene analysis, vitro plasmid construction, analyses were conducted to investigate underlying pathogenic mechanisms. Results Plasma showed decrease proband. DNA sequencing proband revealed...
Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic syndromic types. This study aimed to identify defects a Chinese patient with enlarged (NSEVA) investigate impact of variants on severity aqueduct. A male NSEVA, aged approximately 6 years, was recruited for this study. The clinical characteristics results auxiliary examinations, including laboratory imaging were collected, 127 common hereditary deafness genes...