A5071616204- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Catalytic Processes in Materials Science
- Immunotherapy and Immune Responses
- Hydrocarbon exploration and reservoir analysis
- Diet, Metabolism, and Disease
- Body Contouring and Surgery
- Thermal properties of materials
- Advanced Thermoelectric Materials and Devices
- Cancer Cells and Metastasis
- Amyotrophic Lateral Sclerosis Research
- Mitochondrial Function and Pathology
- Cardiovascular Function and Risk Factors
- Mesoporous Materials and Catalysis
- Petroleum Processing and Analysis
- Advanced Photocatalysis Techniques
- Natural Antidiabetic Agents Studies
- Ion channel regulation and function
- Prenatal Screening and Diagnostics
- GDF15 and Related Biomarkers
- Heat Transfer and Optimization
- Neurological disorders and treatments
- Immune cells in cancer
Chengdu University of Traditional Chinese Medicine
2023-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2018-2023
Wuhan Textile University
2023
Peking Union Medical College Hospital
2018-2023
Institute of Basic Medical Sciences of the Chinese Academy of Medical Sciences
2023
Wuhan University of Technology
2018
East China University of Science and Technology
2017-2018
Background and purpose The aim was to investigate whether abnormal TTTTA TTTCA repeat expansions in introns of SAMD12 , TNRC 6A RAPGEF 2 are involved the pathogenesis familial cortical myoclonic tremor with epilepsy ( FCMTE ). Methods Five families diagnosed were included current genetic analysis. Whole‐exome sequencing performed selected patients each family. examined by repeat‐primed polymerase chain reaction. clinical features elicited as defined common mechanism 14 patients. Results...
Visceral fat area (VFA) levels have been found to exhibit a strong association with various conditions such as insulin resistance (IR), inflammation, oxidative stress, metabolic syndrome (MetS), hyperlipidemia, diabetes, and its vascular complications. These complications include hypertension, cardiovascular disease, diabetic retinopathy (DR), albuminuria, autonomic dysfunction, which is considered one of the main types neuropathy. This study aimed investigate correlation between visceral...
Ovarian cancer (OC) is the fifth leading cause of cancer-related deaths among women. Late diagnosis and heterogeneous treatment result in a poor prognosis for patients with OC. Therefore, we aimed to develop new biomarkers predict accurate prognoses provide references individualized strategies.We constructed co-expression network applying "WGCNA" package identified extracellular matrix-associated gene modules. We figured out best model generated matrix score (ECMS). The ECMS' ability OC...
Immobilization of active components on support materials is an effective strategy to minimize the negative environmental and health impacts hazardous Lewis acid catalysts. In this study, we synthesized immobilized Al–Ti bimetallic catalysts supported MgO–Al2O3–SiO2 ternary oxide (Al–Ti/MAS) with accurately controlled compositions pore structures. We also characterized supports using various techniques. Further, examined their catalytic activity stability a fixed-bed reactor. Compared...
To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.Clinical data was collected. Genomic DNA extracted from peripheral blood samples subjected to high-throughput sequencing. Candidate variants were verified by Sanger Prenatal diagnosis carried out for a high-risk fetus pedigree 2.The proband 1 at 23+5 weeks gestation, which both ultrasound MRI showed "cerebellar vermis malformation" "molar tooth sign". No apparent abnormality...
To explore the clinical features and genetic etiology of two children with intellectual developmental disorder microcephaly pontine cerebellar hypoplasia (MICPCH).Two MICPCH who were presented at Henan Provincial People's Hospital between April 2019 December 2021 selected as study subjects. Clinical data collected, along peripheral venous blood samples them their parents, amniotic fluid sample mother child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH)...
To explore the value of whole exome sequencing for inferential analysis recessive genetic disease carrier status couples with a child died Primary immunodeficiency (PID).
To explore the genetic etiology of a pedigree with intellectual disability and its pathogenesis.
To analyze the clinical features and genetic variant in a patient with Usher syndrome.Whole exome sequencing was carried out for patient. Suspected variants were validated by Sanger of her parents fetus.The proband found to harbor compound heterozygous c.17_18insA (p.Tyr6Ter*) c.4095_4096insA (p.Arg1366Lys fs*38) PCDH15 gene (NM_033056), which respectively inherited from father mother. The same not detected 100 healthy controls. Based on guidelines American Society Medical Genetics Genomics,...
Objectives To analyse the prevalence of pathogenic variants in DEPDC5 , NPRL2 and NPRL3 that encode GATOR1 (GTPase-activating protein towards Rags 1) complex, a modulator mammalian target rapamycin (mTOR) pathway, to define characteristics GATOR1-associated epilepsy. Methods Clinical details whole-exome sequencing data 170 novel probands with lesional or non-lesional epilepsy were retrieved. Candidate genes verified by Sanger sequencing, cosegregate analysis was performed. The pathogenicity...
To explore the genetic basis for fetus with bilateral lateral ventriculomegaly.Fetus umbilical cord blood and peripheral samples of its parents were collected. The was subjected to chromosomal karyotyping, whilst array comparative genomic hybridization (aCGH). candidate copy number variation (CNV) verified by qPCR, Application goldeneye DNA identification system used confirm parental relationship.The found have a normal karyotype. aCGH analysis indicated that it has carried 1.16 Mb deletion...
To explore the genetic etiology of two patients with developmental delay and intellectual disability.Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 5, 2019 selected as study subjects. Clinical data collected, array comparative genomic hybridization (aCGH) was carried out their parents for detection chromosomal microduplication/microdeletions.Patient 1 a 2-year-and-10-month female patient 2 3-year-old female. Both had featured delay,...
To explore the genetic etiology for a child featuring mental retardation and speech delay.