A5076123883- Prenatal Screening and Diagnostics
- CAR-T cell therapy research
- Congenital heart defects research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Multiple Myeloma Research and Treatments
- Pediatric Urology and Nephrology Studies
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Immune Cell Function and Interaction
- Parvovirus B19 Infection Studies
- Berberine and alkaloids research
- Chronic Myeloid Leukemia Treatments
- Genetic Syndromes and Imprinting
- Cleft Lip and Palate Research
- Gout, Hyperuricemia, Uric Acid
- Cancer-related molecular mechanisms research
- Inflammasome and immune disorders
- Electric Power System Optimization
- Diet, Metabolism, and Disease
- Adipokines, Inflammation, and Metabolic Diseases
- Genetic and Kidney Cyst Diseases
- High-Voltage Power Transmission Systems
- Protein Degradation and Inhibitors
Guangzhou Medical University
2018-2025
Huazhong University of Science and Technology
2007-2025
Tongji Hospital
2021-2025
Zhejiang Sci-Tech University
2025
Anhui Medical University
2024
Second Hospital of Anhui Medical University
2024
Guangzhou Women and Children Medical Center
2018-2024
Chinese University of Hong Kong
2024
Guangzhou University of Chinese Medicine
2021-2023
Ningbo University
2023
Phellodendri Chinese Cortex has long been used to treat hyperuricemia and gout. Berberine (BBR), its characteristic ingredient, also shown be effective in alleviating monosodium urate crystals-triggered gout inflammation vitro vivo . Dihydroberberine (DHB) is a hydrogenated derivative of BBR that showed improved efficacy on many metabolic disorders. However, anti-hyperuricemia effect remains underexplored. In the present work, hypouricemic renoprotective effects DHB hyperuricemic mice were...
Purpose: Gouty arthritis could be triggered by the deposition of monosodium uric acid (MSU) crystals. Palmatine (PAL), a protoberberine alkaloid, has been proven to possess compelling health-beneficial activities. In this study, we aimed explore effect PAL on LPS plus MSU crystal-stimulated gouty in vitro and vivo. Methods: PMA-differentiated THP-1 macrophages were primed with then stimulated crystal presence or absence PAL. The expression pro-inflammatory cytokines oxidative stress-related...
Abstract Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into management remain limited practice. Herein, we report our experience implementing ES (pES) a large cohort of fetuses with anomalies detected by ultrasonography using hospital-based in-house multidisciplinary team (MDT) facilitated three-step genotype-driven followed phenotype-driven analysis framework. Methods We performed pES 1618...
Abstract The genetic diagnosis of congenital heart defects (CHDs) is challenging because and phenotypic heterogeneity. aim our study was to evaluate the clinical value whole exome sequencing (WES) in prenatal CHDs a large cohort. Trio‐based WES performed 260 fetuses with negative for karyotype chromosome microarray analysis results. produced diagnostic yield 10% (26/260) entire Relative high rate observed cases cardiac rhabdomyoma (60%), complex (16.7%), septal defect (14.0%), conotruncal...
Background: Microcephaly is common in patients with neuropsychiatric problems, and it usually closely related to genetic causes. However, studies on chromosomal abnormalities single-gene disorders associated fetal microcephaly are limited. Objective: We investigated the cytogenetic monogenic risks of evaluated their pregnancy outcomes. Methods: performed a clinical evaluation, high-resolution microarray analysis (CMA), trio exome sequencing (ES) 224 fetuses prenatal followed outcome...
Abstract Objective We aimed to investigate the value of whole‐exome sequencing (WES) in fetuses with congenital anomalies kidney and urinary tract (CAKUT) or without other structural but normal findings upon karyotyping chromosome microarray analysis (CMA). Methods Cases CAKUT were screened for eligibility. Fetuses abnormal CMA results excluded. performed WES on DNA samples from eligible fetus‐parental trios identified diagnostic genetic variants based ultrasonographic features. Results A...
Berberine (BBR) has extremely low concentration and high tissue distribution. However, current pharmacokinetic studies predominantly focus on its in plasma, which could hardly make a comprehensive understanding of process. This study made pioneering endeavor to explore the erythrocyte-hemoglobin (Hb) self-assembly system BBR by exploring interaction with erythrocyte combination Hb. Results showed that had bioavailability (C0 = 2.833 μg/mL via intravenous administration 2.5 mg/kg Cmax 0.260...
We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) or without other structural anomalies, but normal findings by karyotyping and chromosome microarray analysis (CMA).Cases CA were screened for eligibility. Fetuses abnormal CMA results excluded. performed ES on DNA samples from eligible fetus-parental trios identified diagnostic genetic variants based ultrasonographic features.A total 50 successfully analyzed ES. found 17 likely pathogenic 14...
Four multi-species conserved sequences (MCSs) are important enhancers which affect α-globin expression. Deletions of MCS can cause α-thalassemia. So far, duplication has never been reported to account for thalassemia. In this study, an unusual transfusion-dependent case hemoglobin H disease was identified by whole-genome sequencing, optical genome mapping and longer PCR with special primers, caused a familial 96,620-bp inverted (from MCS-R1 MCS-R4), inserted between chr16:199348 199349...
Chimeric antigen receptor (CAR) T-cell infusion (CTI) therapy has emerged as a breakthrough in relapsed/refractory B-cell non-Hodgkin's lymphoma (R/R B-NHL), but substantial number of patients still suffer treatment failure. Data on disease history, subsequent salvage therapies, and outcomes who face failure after the first CTI (CTI1) have not been reported detail or systematically studied. Here, retrospective analysis was performed total 61 R/R B-NHL whom therapies were adopted CTI1...
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses diagnosed in utero with a PTEN variant. Method This retrospective study analyzed 14 cases variants identified through ultrasound subsequently confirmed by genetic testing. Clinical laboratory data were collected for these cases, encompassing maternal demographics, molecular testing results, outcomes. Results A total (likely) pathogenic included study. Five exhibited...
ABSTRACT Objective To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses. Methods Fetuses with macrocephaly (head circumference (HC) ≥ +2 SD) and negative chromosomal microarray results were included, who had available trio‐ES data. Molecular diagnoses systematically analyzed. Subgroup analyses performed on ES yield based gestational age, HC Z ‐scores, associated anomalies, growth parameters. Results established 34 out 87 fetuses (39.1%) through trio‐ES. These...
Objective The objective of the study is to report incidence and pregnancy outcome autosomal aneuploidies other than common trisomies 21, 18, 13 detected by noninvasive prenatal testing (NIPT) at a single center. Methods Pregnant women undergoing NIPT from February 2015 January 2018 in our center were offered expanded screening include rare aneuploidies. Aneuploidies included extra copy chromosomes (most likely trisomies) decreased monosomies). outcomes consenting screen recorded. Results...
Dentin dysplasia type I (DDI) is an autosomal-dominant genetic disorder resulting from dentin defects. The molecular basis of DDI remains unclear. exhibits unique characteristics with phenotypes featuring obliteration pulp chambers and diminutive root, thus providing a useful model for understanding the genetics tooth formation. Using large Chinese family 14 patients, we mapped gene locus responsible to 3p26.1–3p24.3 further identified missense mutation, c.353C>A (p.P118Q) in SSUH2 on...
To assess the correlation between Z-scores of positive noninvasive prenatal testing (NIPT) results and predictive value (PPV) NIPT.Pregnancies with NIPT at Guangzhou Women Children's Medical Centre July 2017 May 2020 were included in this study. Fetal karyotyping or microarray analysis was provided to patients abnormal for confirmatory testing. Logistic regression analyses applied study relationship Z scores PPV performance. The optimal cutoff values indicating fetal common trisomies...
Abstract Treatment failure or relapse due to tumor escape caused by reduction in target antigen expression has become a challenge the field of CART therapy. Target density is closely related effectiveness therapy, and reduced lost limits efficacy therapy hinders durability CAR T cells. Epigenetic drugs can regulate histones for molecular modifications transcriptional, translational post-translational modification processes agents, we demonstrated first time role regulating CD22 its effect on...
Hyperuricemia (HUA), a common metabolic disease, is treated as the second-largest disease after diabetes in China. Cortex Phellodendri (CP) one of most frequently used herbal medicines for treating gout or HUA. However, mechanism underlying anti-HUA effect CP still unrevealed. Hence, this study aimed to explore pharmacological against HUA using network pharmacology coupled with vivo experimental validation. Active compounds and potential targets CP, well related HUA, were retrieved from...