A5101032703- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Iron Metabolism and Disorders
- Congenital heart defects research
- Hemoglobinopathies and Related Disorders
- Metabolism and Genetic Disorders
- Blood groups and transfusion
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- RNA Research and Splicing
- S100 Proteins and Annexins
- Reproductive System and Pregnancy
- Endoplasmic Reticulum Stress and Disease
- RNA regulation and disease
- Pluripotent Stem Cells Research
- Folate and B Vitamins Research
- Cell Adhesion Molecules Research
- Alzheimer's disease research and treatments
- Hearing, Cochlea, Tinnitus, Genetics
- Down syndrome and intellectual disability research
- RNA and protein synthesis mechanisms
- Chromosomal and Genetic Variations
Jiangxi Maternal and Child Health Hospital
2019-2025
Nanchang University
2022
Kunming Medical University
2020
First Affiliated Hospital of Kunming Medical University
2020
Central South University
2015-2018
Xiangya Hospital Central South University
2018
Soochow University
2014-2015
Evidence continues to accumulate that pesticides are the leading candidates of environmental toxins may contribute pathogenesis Parkinson’s disease. The mechanisms, however, remain largely unclear. According epidemiological studies, we selected nine representative (paraquat, rotenone, chlorpyrifos, pendimethalin, endosulfan, fenpyroximate, tebufenpyrad, trichlorphon and carbaryl) which commonly used in China detected effects on mitochondria ubiquitin-proteasome system (UPS) function. Our...
Baicalein, a flavonoid compound, is one of the active constituents root Scutellariae Radix. Its antitumor effects have attracted widespread attention worldwide. One its major functions to induce apoptosis tumor cells, but mechanism currently unclear. In present study, we found that baicalein increased MG-63 cell mortality in dose-dependent manner. Meanwhile, activated through induced intracellular reactive oxygen species (ROS) generation, and ROS scavenger N-acetyl-cysteine (NAC),...
<title>Abstract</title> Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in genes α5 chains collagen type IV (<italic>COL4A5</italic>). The early diagnosis treatment essential for prognosis AS. clinical phenotypes AS very variable, which challenging to diagnose. Genetic sensitive accurate, can recognize affected individuals with mild phenotype predict age at renal failure treatment. In addition, genetic testing will offer...
Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in genes α5 chains collagen type IV (COL4A5). The early diagnosis treatment essential for prognosis AS. clinical phenotypes AS very variable, which challenging to diagnose. Genetic sensitive accurate, can recognize affected individuals with mild phenotype predict age at renal failure treatment. In addition, genetic testing will offer available reproductive options, including...
Molecular characterization was performed for investigation of β-globin gene cluster in a pregnant Chinese female with mild microcytic hypochromic anemia accompanied complicated hemoglobin fractions. Routine hematological parameters and analyses were conducted using an automated cell counter capillary electrophoresis, separately. Long-read single molecule real time (SMRT) sequencing employed to molecularly characterize this individual. Hematological indices showed anemia, demonstrated normal...
Abstract Background Trophectoderm (TE) cell biopsy at the blastocyst stage is currently most common method used in preimplantation genetic testing for monogenic disorders (PGT-M). However, this approach may result wasting of some genetically unaffected embryos because only a proportion zygotes develop to stage. Unaffected embryos, which degenerated during blastomere-blastocyst transformation, give birth if transferred before and be great value women with low oocyte count. This study sought...
Recessive monogenic disorders represent a significant cause of congenital malformations and disabilities in pediatric populations. The present study aims to provide the first comprehensive assessment clinical experience with expanded carrier screening (ECS) panels large cohort from Jiangxi province Southern Central China. An ECS panel encompassing 147 genes associated 155 genetic was initially performed on 5,104 pre-gestational/prenatal females using next-generation sequencing. Following...
To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total 23,116 pregnant women with singleton pregnancy were recruited NIPT-Plus. Screening positive results verified by karyotype analysis microarray after amniocentesis. A 264 pregnancies (1.14%) as predicted NIPT-Plus, including 233 31 variations. Following genetic counseling,...
TAB2 is an activator of MAP 3 K7/TAK1, which required for the IL-1 induced signal pathway. Microdeletions encompassing have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency causes CHD. To date, seven variants within were reported associated CHD, only two them are nonsense mutations.Here we describe a three-generation Chinese family included five CHD valvular defects, such as mitral or tricuspid valves prolapse regurgitation, and aortic...
Epilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are main monogenic cause of epilepsy. Type and location variants make a huge difference severity SCN1A disorder, ranging from mild phenotype (genetic epilepsy with febrile seizures plus, GEFS+) to severe (developmental epileptic encephalopathies, DEEs). Dravet Syndrome (DS) an infantile-onset DEE, drug-resistant temperature sensitivity or Genetic test results...
Background and aims Concurrent hearing genetic screening of newborns have been widely adopted as an effective strategy in early diagnosis intervention for loss many cities China. Here, we aimed to firstly explore the efficacy combining conventional with among large-scale Jiangxi Province. Methods A total 24,349 from Maternal Child Health Hospital were enrolled our study April 2021 June 2022. Newborn was conducted using otoacoustic emission (OAE) automated auditory brainstem response (AABR)....
Abstract Purpose The aim of this study was to determine the genetic cause early onset autosomal dominant hearing loss segregating in five-generation kindred Chinese descent and provide preimplantation testing (PGT)for them. Methods Clinical examination, pedigree analysis exome sequencing were carried out on family. Minigene-based splicing analysis, vivo RNA protein structure prediction by molecular modeling conducted candidate variant. PGT for causative variation chromosome aneuploidis based...
Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim this cohort study was to evaluate prevalence chromosomal abnormalities clinical utility microarray analysis (CMA) in fetuses with different types CHD, aiming assist genetic counseling decision-making. Methods In study, 642 CHD were enrolled from a single center over six-year period (2017–2022). Both conventional karyotyping CMA performed simultaneously on these fetuses. Results...
Objectives Bioinformatics analysis revealed a potential interaction between long noncoding (lnc)RNA TUG1 (taurine-upregulated gene 1) and microRNA (miR)-27a. miR-27a can promote sepsis by upregulating tumor necrosis factor-α (TNF-α). Our objective was to study the roles of in sepsis. Methods Plasma levels patients with healthy controls were measured quantitative PCR assay. The IntaRNA program used predict interactions mRNA miR-27a. further explored transfecting expression vector or mimic...
Background and aims: Hemoglobinopathy associated with the HBB gene, its two general subtypes as thalassemia abnormal hemoglobin (Hb) variants, is one of most prevalent hereditary Hb disorders worldwide. Herein we aimed to elucidate prevalence ß-thalassemia variants prenatal diagnosis gene in Jiangxi Province, southern central China. Methods: Hematological indices capillary electrophoresis were conducted for 136,149 subjects who admitted Maternal Child Health Hospital requested...
Background and aims: Certain chromosomal structural variations (SVs) in biological parents can lead to recurrent spontaneous abortions (RSAs). Unequal crossing over during meiosis result the unbalanced rearrangement of gamete chromosomes such as duplication or deletion. Unfortunately, routine techniques karyotyping, fluorescence situ hybridization (FISH), microarray analysis (CMA), copy number variation sequencing (CNV-seq) cannot detect all types SVs. In this study, we show that optical...
Recent research has demonstrated that small heat shock protein (sHsp) phosphorylation plays a variety of roles in neural cells. While the serine 16 (Ser16) is blocked, Hsp20 no longer neuroprotective effects. To further investigate mechanism underlying this process, oxygen-glucose deprivation and reperfusion (OGD/R) was used with human SH-SY5Y cells mouse N2a neuroblastoma When were transfected pEGFP-Hsp20(WT), pEGFP-Hsp20(S16A), pEGFP-Hsp20(S16D) plasmids, Golgi apparatus (GA) became more...
Background and purpose: Intellectual disability-7 (MRD7) is a subtype disorder of intellectual disability (MRD) involving feeding difficulties, hypoactivity, febrile seizures at an age early onset, then progressive physical development deterioration. We purposed to identify the underlying causative genetic factors three individuals in each Chinese family who presented with symptoms facial dysmorphic features. provided prenatal diagnosis for families counseling prevention this disease....