A5068876916- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Prenatal Screening and Diagnostics
- Blood groups and transfusion
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Erythrocyte Function and Pathophysiology
- Neonatal Health and Biochemistry
- Cancer-related gene regulation
- Folate and B Vitamins Research
- Advanced biosensing and bioanalysis techniques
- CO2 Reduction Techniques and Catalysts
- CRISPR and Genetic Engineering
- Cancer-related molecular mechanisms research
- Neurogenetic and Muscular Disorders Research
- Cancer-related cognitive impairment studies
- Kruppel-like factors research
- Pharmacogenetics and Drug Metabolism
- Genomics and Rare Diseases
- Congenital Anomalies and Fetal Surgery
- Metabolism and Genetic Disorders
- DNA and Nucleic Acid Chemistry
- Parvovirus B19 Infection Studies
- Biosensors and Analytical Detection
Southern Medical University
2016-2025
Nanfang Hospital
2004-2025
University of California, Irvine
2011-2025
Key Laboratory of Guangdong Province
2017-2024
Robert Bosch (Germany)
2019-2023
China Guangzhou Analysis and Testing Center
2016-2021
First Affiliated Hospital Zhejiang University
2021
The Japanese Society of Gastroenterological Surgery
2020
Showa University Koto Toyosu Hospital
2020
Jikei University School of Medicine
2020
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting coding regions hemoglobin genes four modifier was designed. We validated assay by using 2522 subjects affected with hemoglobinopathies applied it to carrier testing in a cohort 10,111 couples who were also screened through traditional methods. In clinical...
Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Q, Xiao Shang Wei T, Chen P, Xu X. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region southern China. Accurate and up‐to‐date data on frequency among populations Region, where are most endemic China, required. In our study, a total 5789 samples obtained from members Han, Zhang, Yao ethnic groups six geographical areas Province were analysed systematically terms both haematological molecular...
The analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication many clinical conditions. Circulating fetal-specific sequences have been detected constitute a fraction total DNA maternal plasma. diagnostic reliability depends on fractional concentration targeted sequence, analytical sensitivity, specificity. robust discrimination single-nucleotide differences between species is technically challenging demands adoption highly...
To develop a warfarin-dosing algorithm that could be combined with pharmacogenomic and demographic factors, to evaluate its effectiveness in randomized prospective controlled clinical trial.A pharmacogenetics-based dosing model was derived using retrospective data from 266 Chinese patients multiple linear regression analysis. prospectively validate this model, 156 an operation of heart valve replacement were enrolled randomly assigned the group pharmacogenetics-guided or traditional for...
This paper developed a novel electrochemical genotyping strategy based on gap ligation reaction with surface hybridization detection. utilized homogeneous enzymatic reactions to generate molecular beacon-structured allele-specific products that could be cooperatively annealed capture probes stably immobilized the via disulfide anchors, thus allowing ultrasensitive detection of through redox tags in close proximity electrode. Such unique biphasic architecture provided universal methodology...
Nasopharyngeal carcinoma (NPC) has a distinctive geographic distribution and is characterised by its strong tendency of metastasis. We aimed to examine the microRNA (miRNA) expression profiles in plasma samples NPC patients explore their clinical significance disease development progression. This study was divided into four steps: (1) confirmation differentially expressed miRNAs using microarray analysis quantitative PCR validation; (2) comparison miR-9 levels during progression; (3)...
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim this study was assess potential value ECS for clinical application in Southern China, a region high prevalence thalassemia and diverse ethnic groups, provide reference future implementations areas similar population characteristics. A total 10,476 prenatal/preconception couples from 34 self-reported groups were simultaneously tested analyzed anonymously...
Abstract Background The clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance α-thalassemia. However, very little is currently known molecular basis Chinese TI patients. Methods We systematically analyzed and characterized genotypes, α-thalassemia determinants, primary genetic modifiers linked production HbF aggravation α/β imbalance 117 Genotype-phenotype correlations were...
Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 NAIP can modify phenotype SMA. The aim this study was to analyze numbers gene structures SMA-related genes in Chinese SMA patients unrelated healthy controls.Forty-two two hundred twelve individuals were enrolled our study. measured MLPA assay.We identified a homozygous deletion exons 7 8 37 42 (88.1%); other 5 (11.9%) had single exon 8. proportions 212 controls with different for normal 1 4 (1.9%), 2...
Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures, lack versatility, and need for prior knowledge parental genotypes or haplotypes. To overcome these robust versatile next-generation sequencing-based cell-free DNA (cfDNA) allelic molecule counting system termed cfDNA barcode-enabled single-molecule...
Fetal hemoglobin (HbF) levels are influenced by various genetic modifiers, which have clinically beneficial effects on both β-thalassemia and sickle cell disease. HbF-associated variants distributed throughout the genome, current detection methods often costly, time-consuming, require multiple tests. Therefore, developing rapid economical for simultaneous of is essential improving accurate diagnosis β-hemoglobinopathies. Matrix-assisted laser desorption ionization time-of-flight mass...
Abstract N 6 -methyladenosine (m6A) is the most prevalent internal RNA modification that can impact mRNA expression post-transcriptionally. Recent progress indicates m6A also acts on nuclear or chromatin-associated RNAs to transcriptional and epigenetic processes. However, landscapes functional roles of in human brains neurodegenerative diseases, including Alzheimer’s disease (AD), have been under-explored. Here, we examined methylome using total RNA-seq meRIP-seq middle frontal cortex...