A5101943407- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- RNA Research and Splicing
- Genomics and Rare Diseases
- Forensic and Genetic Research
- T-cell and B-cell Immunology
- Genetics and Neurodevelopmental Disorders
- Immune Cell Function and Interaction
- Cancer-related molecular mechanisms research
- Congenital heart defects research
- HVDC Systems and Fault Protection
- Genetic Syndromes and Imprinting
- Cellular Mechanics and Interactions
- Immunotherapy and Immune Responses
- Cancer-related gene regulation
- Fetal and Pediatric Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Bone Metabolism and Diseases
- Hedgehog Signaling Pathway Studies
- Connective tissue disorders research
- Cell Adhesion Molecules Research
- Ethics and Legal Issues in Pediatric Healthcare
- Tracheal and airway disorders
- Protein Degradation and Inhibitors
Henan Provincial People's Hospital
2013-2024
Zhengzhou University
2014-2024
Henan University
2020-2024
National Health and Family Planning Commission
2021-2024
Southern Medical University
2021
Abstract CD4 + and CD8 double-positive (DP) thymocytes play a crucial role in T cell development the thymus. DP cells rearrange receptor gene Tcra to generate receptors with TCRβ. differentiate into or single-positive (SP) thymocytes, regulatory cells, invariant nature kill (iNKT) response TCR signaling. Chromatin organizer SATB1 is highly expressed essential regulating rearrangement differentiation of cells. Here we explored mechanism orchestrating expression Single-cell RNA sequencing...
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...
Abstract Epstein-Barr virus nuclear antigen 2 (EBNA2) is a transactivator of viral and cellular gene expression, which plays critical role in the virus-associated diseases. It was reported that EBNA2 regulates expression by reorganizing chromatin manipulating epigenetics. Recent studies showed liquid-liquid phase separation an essential epigenetic transcriptional regulation. Here we show reorganized topology to form accessible domains (ACDs) host genome separation. The N-terminal region...
N6-methyladenosine (m6A) was the most abundant modification of mRNA and lncRNA in mammalian cells played an important role many biological processes. However, whether m6A associated with recurrent spontaneous abortion (RSA) its roles were still unclear. Methods: Methylated RNA immunoprecipitation sequencing (MeRIP-Seq) used to study global pattern RSAs controls. (RNA-Seq) level two groups. Real-time quantitative PCR (RT-qPCR) verify METTL3 ZBTB4. MeRIP-qPCR conducted test ZBTB4 In order...
encodes a core subunit of the SWI/SNF chromatin remodeling complex, which plays crucial role in regulation gene expression. Germline mutations
Abstract Background Growing evidence has suggested that Type I Interferon (I-IFN) plays a potential role in the pathogenesis of Down Syndrome (DS). This work investigates underlying function MX1, an effector gene I-IFN, DS-associated transcriptional regulation and phenotypic modulation. Methods We performed assay for transposase-accessible chromatin with high-throughout sequencing (ATAC-seq) to explore difference accessibility between DS derived amniocytes (DSACs) controls. then combined...
Abstract Background Neurodevelopmental disorders, a group of early‐onset neurological disorders with significant clinical and genetic heterogeneity, remain diagnostic challenge for evaluation. Therefore, we assessed the yield by combining standard phenotypes whole‐exome sequencing in families these that were “not yet diagnosed” traditional testing methods. Methods Using standardized vocabulary phenotypic abnormalities from human phenotype ontology (HPO), performed deep phenotyping 45...
Down syndrome (DS) is a common genetic condition in which person born with an extra copy of chromosome 21. Intellectual disability the most characteristic DS. N6-methyladenosine (m6A) RNA modification that implicated many biological processes. It highly enriched within brain and plays essential role human development. However, mRNA m6A fetal DS has not been explored. Here, we report profiles expression cortex tissue from DSs controls. We observed tissues was reduced genome-wide, may be due...
Microcephaly with or without chorioretinopathy, lymphedema, mental retardation (MCLMR) is an inherited disorder characterized by severe microcephaly and abnormal facial features. Kinesin family member 11 (<i>KIF11</i>) mutations have been reported closely related to in different cases, while the pathogenicity was still unclear. Here, we report a de novo heterozygous mutation exon 20 of <i>KIF11</i> (c.2922G&#x3e;T; p.Pro974=) from patient through whole-exome...
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...
Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it very important to avoid the birth of children DMD by prenatal diagnosis. We identified a de novo gene mutation in Chinese family, make
To assess the association of polymorphisms human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).The HLA-DRB1 was typed polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples URSA and a normal pregnancy history.The frequencies DRB1*09 DRB1*13 alleles were significantly greater group compared control (14.50% vs. 9.50%, 7.00% 4.38%, both P<0.05), whilst DRB1*04 DRB1*12 lower (7.13% 10.75%, 8.63%...
To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID).
Abstract Background Bartter syndrome type 1, an autosomal recessive genetic disorder, is caused by pathogenic loss‐of‐function variants in the SLC12A1 gene. It characterized metabolic alkalosis and prenatal‐onset polyuria leading to polyhydramnios. Methods We identified gene a 12‐day‐old newborn boy with 1 using whole‐exome sequencing. Sanger sequencing validated variants. A minigene assay was performed investigate effect of novel splice site variant on pre‐mRNA splicing. Results found...
Infantile cerebellar retinal degeneration (ICRD) (OMIM #614559) is a rare autosomal recessive inherited disease associated with mutations in the aconitase 2 (ACO2) gene. We report Chinese girl novel compound heterozygous variants
Accumulating evidence suggests that circular RNAs (circRNAs)—miRNA–mRNA ceRNA regulatory network—may play an important role in neurological disorders, such as Alzheimer’s disease (AD). Interestingly, neuropathological changes closely resemble AD have been found nearly all Down syndrome (DS) cases &gt; 35 years. However, few studies reported circRNA transcriptional profiling DS cases, which is caused by a chromosomal aberration of trisomy 21. Here, we characterized the expression profiles...
Abstract The generation of highly diverse antigen receptors in T and B lymphocytes relies on V(D)J recombination. enhancer Eα has been implicated regulating the accessibility Vα Jα genes through long-range interactions during rearrangements T-cell receptor gene Tcra. However, direct evidence for physically mediating interaction is still lacking. In this study, we utilized 3C-HTGTS assay, a chromatin technique based 3C, to analyze higher order structure Tcra locus. Our analysis revealed...