A5101922159- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Folate and B Vitamins Research
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Chromosomal and Genetic Variations
- Sexual Differentiation and Disorders
- RNA modifications and cancer
- Neonatal Health and Biochemistry
- Cell Adhesion Molecules Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Platelet Disorders and Treatments
- Adrenal Hormones and Disorders
- Virus-based gene therapy research
- Blood properties and coagulation
- Nanoplatforms for cancer theranostics
- Epigenetics and DNA Methylation
- Parvovirus B19 Infection Studies
- Cancer, Hypoxia, and Metabolism
- Mitochondrial Function and Pathology
Shanghai Jiao Tong University
2016-2025
XinHua Hospital
2015-2025
Zhejiang University
2024-2025
Beijing Academy of Agricultural and Forestry Sciences
2024-2025
Nanchang University
2024-2025
Second Affiliated Hospital of Nanchang University
2025
Jiangxi Provincial Cancer Hospital
2024
Jiangxi Mental Health Center
2024
Second Xiangya Hospital of Central South University
2024
Central South University
2024
As one of the cornerstones clinical cardiovascular disease treatment, statins have an extensive range applications. However, commonly used side reactions, especially muscle-related symptoms (SAMS), such as muscle weakness, pain, cramps, and severe condition rhabdomyolysis. This undesirable muscular effect is chief reasons for statin non-adherence and/or discontinuation, contributing to adverse outcomes. Moreover, underlying mechanism cell damage still unclear. Here, we discovered that...
This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Eight families at risk DMD were recruited this study. Parental haplotypes constructed target-region sequencing data from the parents and probands. Fetal hidden Markov model through maternal plasma DNA sequencing. The presence of linked to mutant alleles in males indicated affected fetuses. method was further validated by comparing inferred...
In 2016, we described that missense variants in parts of exons 30 and 31 CREBBP can cause a phenotype differs from Rubinstein-Taybi syndrome (RSTS). Here report on another 11 patients with this region (between bp 5,128 5,614) two the homologous EP300. None show characteristics typical for RSTS. The were detected by exome sequencing using panel intellectual disability all but one individual, whom Sanger was performed upon clinical recognition entity. main are developmental delay (90%),...
Rationale: Vascular remodeling, including smooth muscle cell hypertrophy and proliferation, is the key pathological feature of pulmonary arterial hypertension (PAH). Prostaglandin I2 analogs (beraprost, iloprost, treprostinil) are effective in treatment PAH. Of note, clinically favorable effects treprostinil severe PAH may be attributable to concomitant activation DP1 (D prostanoid receptor subtype 1).Objectives: To study role progression its underlying mechanism.Methods: levels were...
Genome sequencing (GS) has been used in the diagnosis of global developmental delay (GDD)/intellectual disability (ID). However, performance GS patients with inconclusive results from chromosomal microarray analysis (CMA) and exome (ES) is unknown. We recruited 100 pediatric GDD/ID multiple sites China February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test before enrollment. Reanalysis their CMA/ES data was performed. The yield calculated...
Objective: Accurate prognostic prediction in patients with high-grade aneruysmal subarachnoid hemorrhage (aSAH) is essential for personalized treatment. In this study, we developed an interpretable machine learning model aSAH using SHapley Additive exPlanations (SHAP). Methods: A prospective registry cohort of was collected one single-center hospital. The endpoint our study a 12-month follow-up outcome. dataset divided into training and validation sets 7:3 ratio. Machine algorithms,...
Canine Parvovirus (CPV) is a highly contagious virus that causes severe hemorrhagic enteritis and myocarditis, posing major threat to the life health of dogs. The molecular mechanism by which VP2, capsid protein CPV, infects host cells utilizes cell proteins for self-replication remains poorly understood. In this study, 140 specifically binding CPV VP2 were identified immunoprecipitation combined with liquid chromatography-mass spectrometry (LC-MS/MS). Subsequently, Interaction Network...
Accurate imaging of tumor hypoxia in vivo is critical for early cancer diagnosis and clinical outcomes, highlighting the great need its detection specificity sensitivity. In this report, we propose a probe (HTRNP) that simultaneously has hypoxia-targeting hypoxia-responsive capabilities to enhance efficiency. HTRNP was successfully prepared through encapsulation Pt(II)-tetrakis(pentafluorophenyl)porphyrin (PtPFPP), which exhibits hypoxia-dependent phosphorescence, within amphiphilic block...
Background: Endovascular treatment (EVT) has been recommended as a superior modality for the of intracranial aneurysm. However, there still exists worse percentage poor functional outcome in patients with poor-grade aneurysmal subarachnoid hemorrhage (aSAH) undergoing EVT. Therefore, it is urgently needed to investigate risk factors and develop critical decision model subtype such patients. Methods: We extracted target variables from an ongoing registry cohort study, PROSAH-MPC, which was...
Gluconeogenesis is drastically increased in patients with type 2 diabetes and accounts for fasting plasma glucose concentrations. Circulating levels of prostaglandin (PG) F2α are also markedly elevated diabetes; however, whether how PGF2α regulates hepatic metabolism remain unknown. Here, we demonstrated that receptor (F-prostanoid [FP]) was upregulated the livers mice upon fasting- diabetic stress. Hepatic deletion FP suppressed fasting-induced gluconeogenesis, whereas overexpression...
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application target/exome sequencing. yield in Mendelian diseases varies 25% to 68%. aim present study was identify genetic causes 33 ID/DD patients using Recent studies have demonstrated that reanalyzing undiagnosed exomes could additional diagnosis. Therefore, addition normal data analysis, this study, re‐evaluation performed prior manuscript preparation after updating OMIM annotations, calling...
The "multiple-hit" hypothesis is currently the most widely accepted theory for non-alcoholic fatty liver disease (NAFLD) pathogenesis. present study aimed to investigate effects of water extract artichoke (WEA) on NAFLD and its underlying mechanism.Rats were fed a high-fat diet (HFD) 8 weeks induce then treated with WEA at three doses (0.4, 0.8, 1.6 g/kg body weight, BW) weeks. At end intervention, serum biochemical parameters, hepatic antioxidant capacity, levels pro-inflammatory cytokines,...
Thrombosis and hemostasis take place in flowing blood, which generates shear forces. The effect of different rates, particularly pathological forces, on platelet thrombus formation remains to be fully elucidated. present study observed the morphological characteristics hierarchical structure thrombi collagen surface at a wide range wall rates (WSRs) examined underlying mechanisms. Calcein AM‑labeled whole blood was perfused over collagen‑coated set by Bioflux 200 microfluidic device formed...
Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among patients different comorbid conditions. To investigate genotype-phenotype correlation, we examined characteristics identified pathogenic copy number variations (pCNVs) compared yields patient subgroups...
Phelan-McDermid syndrome (PMS) or 22q13 deletion is a rare developmental disorder characterized by hypotonia, delay (DD), intellectual disability (ID), autism spectrum (ASD) and dysmorphic features. Most cases are caused deletions encompassing many genes including SHANK3. Phenotype comparisons between patients with SHANK3 mutations (or only disrupt SHANK3) more than gene lacking.A total of 29 Mainland China were clinically genetically evaluated. Data obtained from medical record review...
Abstract Background Artichoke ( Cynara scolymus L. ) is a typical element of traditional Mediterranean diet and has potential health advantages for insulin resistance (IR) type 2 diabetes mellitus (T2DM). This study aims to evaluate the effect underlying mechanism artichoke water extract (AWE) on palmitate (PA)-induced IR in human hepatocellular carcinoma (HepG2) cells. Methods The AWE cell viability was determined using CCK8 assay. Cellular glucose uptake, consumption, production, glycogen...
Capture sequencing (CS) is widely applied to detect small genetic variations such as single nucleotide variants or indels. Algorithms based on depth comparison are becoming available for detecting copy number variation (CNV) from CS data. However, a systematic evaluation with large sample size has not been conducted evaluate the efficacy of CS-based CNV detection in clinical diagnosis.We retrospectively studied 3010 samples referred our diagnostic laboratory testing. We used 68 chromosomal...