A5100405432- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Virus-based gene therapy research
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Fetal and Pediatric Neurological Disorders
- Cancer Research and Treatments
- Genetic Associations and Epidemiology
- Genetic and Kidney Cyst Diseases
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Cellular transport and secretion
- Genetic and phenotypic traits in livestock
- Nuts composition and effects
- Genetics and Physical Performance
- Congenital heart defects research
- Biomedical Text Mining and Ontologies
- Genetic Mapping and Diversity in Plants and Animals
- Magnesium in Health and Disease
- Cerebrospinal fluid and hydrocephalus
- Renal function and acid-base balance
- Plant and Fungal Interactions Research
- Mesenchymal stem cell research
- Amino Acid Enzymes and Metabolism
Guangxi Maternal and Child Health Hospital
2019-2024
University of Southern California
2021-2022
Prevention Institute
2022
Southern California University for Professional Studies
2021
Central South University
2017
Jiangxi Normal University
2016
General Administration of Sport of China
2016
Sun Yat-sen University
2013
NSF National Center for Atmospheric Research
2011
Fudan University
2009
Genome-wide copy number changes were analyzed in 70 primary human lung carcinoma specimens and 31 cell lines derived from carcinomas, with high-density arrays representing approximately 115,000 single nucleotide polymorphism loci. In addition to previously characterized loci, two regions of homozygous deletion found, one near the PTPRD locus on chromosome segment 9p23 four samples both small (SCLC) non-small (NSCLC) second 3q25 sample each NSCLC SCLC. High-level amplifications identified...
Abstract Background The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. fundamental mission is to analyze genomes, and identify the most relevant genetic variations underlying a patient’s phenotypes symptoms. adoption of Whole Genome Sequencing requires novel capacities for interpretation non-coding variants. Results We present TGex, Translational Genomics expert, genome variation analysis platform, with remarkable exome pioneering approach...
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report new neurodevelopmental disorder (NDD) with common features language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants UBAP2L , which encodes an essential regulator SG assembly. Ubap2l haploinsufficiency mouse led social cognitive impairments accompanied disrupted neurogenesis reduced formation during early brain development. On the basis...
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...
CCCTC‐binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay microcephaly. So far, four patients have reported with de novo mutations. We three additional Chinese variants . The new evidence helped to establish the clinical validity between emerging disorder. described consistent phenotypes shared all revealed features...
Abstract Recurrent proximal 16p11.2 deletion (16p11.2del) is a risk factor for diverse neurodevelopmental disorders with incomplete penetrance and variable expressivity. Although investigation human induced pluripotent stem cell models has confirmed disruption of neuronal development in 16p11.2del cells, which genes are responsible abnormal cellular phenotypes what determines the abnormalities unknown. We performed haplotype phasing region cohort generated cells two families distinct...
Induced pluripotent stem cells (iPSCs) are a promising source of mesenchymal (MSCs) for clinical applications. In this study, we transformed human iPSCs using non-viral vector carrying the IL24 transgene pHrn-IL24. PCR and southern blotting confirmed integration into rDNA loci in four 68 iPSC clones. We then differentiated high expressing IL24-iPSC clone MSCs (IL24-iMSCs) that showed higher expression culture supernatants cell lysates than control iMSCs. IL24-iMSCs efficiently osteoblasts,...
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that associated typical clinical imaging features. The caused by pathogenic variants in the MAST1 gene, which encodes microtubule-associated protein predominantly expressed postmitotic neurons developing nervous system.
CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The characterized pattern congenital anomalies that involve in multiple organs. In this study, five patients were diagnosed as with CHD7 whole exome sequencing. Although the clinical phenotypes probands are highly variable and typical symptoms such coloboma choanal atresia not commonly manifested cohort, they all presented heart defects. Of note, dyspnea most...
Background: Contactin 2, encoded by CNTN2 on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant the gene was previously reported to cause autosomal recessive cortical myoclonic tremor epilepsy. Since then, there has been no further report confirming association of Here, we one new case, who presented with epilepsy, carrying novel frameshift CNTN2. The clinical genetic features patient were reviewed. Case...
To observe the associations between single nucleotide polymorphisms (SNPs) of nicotinamide N-methyltransferase (NNMT) gene and sport performance to analyse genotype associated SNPs with relative maximal oxygen uptake ().Participants were selected from 685 Chinese Han male college students. The completion times a 1000-m run 50-m used reflect performance, respectively. Nineteen tagSNPs genotyped Polymerase chain reaction–ligase detection reaction. Relative was directly determined...
Abstract Coronary artery disease (CAD) is a leading cause of death, yet its genetic determinants are not fully elucidated. We report multi-ethnic genome-wide association study CAD involving nearly quarter million cases, incorporating the largest cohorts to date Whites, Blacks, and Hispanics from Million Veteran Program with existing studies including CARDIoGRAMplusC4D, UK Biobank, Biobank Japan. verify substantial equivalent heritability across multiple ancestral groups, discover 107 novel...
Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal‑recessive disease that characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded six CED‑associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in assembly, maintenance function primary cilia. current study identified compound novel heterozygous <em>IFT122</em> (NM_052985.3) variants male Chinese infant with CED. latter...
Abstract Background Congenital hydrocephalus‐3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe and cerebellar abnormalities, the onset disease occurs in utero even resulting fetal death. A very limited spectrum WDR81 pathogenic variants had been reported three unrelated families HYC3. This study aims at presenting novel compound heterozygous frameshift Chinese fetus. Methods Whole‐exome sequencing (WES) was performed for fetus...
Abstract Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. Methods An affected dizygotic twin pair from non‐consanguineous Chinese family presented with asphyxia, lethargy no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar sole...
Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor behavioral abnormalities, and facial dysmorphism. It caused a heterozygous pathogenic variant in the thyroid hormone receptor interactor 12 (TRIP12) gene. However, loss of function haploinsufficiency are mechanisms behind TRIP12-related disorder.We conducted an exome sequencing analysis for 2 unrelated patients moderate disability, delay.We identified de novo...
Up to know, no any study on using human bone marrow mesenchymal stem cells (hBMSCs) as carrier of tumor suppressor gene (IL-24) was reported. The aim this is the efficiency transduction hBMSCs by constructing lentiviral vector in co-expressing enhanced green fluorescent protein (EGFP) and IL-24 gene, lay a foundation for therapy future.The lentivector which contain EGFP constructed recombinant DNA technology were co-transfected 293FT with ViraPowerTM Lentiviral Packaging Mix. lentivirus...
Christianson syndrome (CS) is an X-linked neurodevelopmental characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay. Pathogenic mutations in the SLC9A6 gene, which encodes Na+/H+ exchanger protein member 6 (NHE6), are associated with CS autism spectrum disorder males. In this study, whole exome sequencing (WES) Sanger revealed a novel de novo frameshift variant c.1548_1549insT of 14-month-old boy early-onset seizures. According to The American College...
ABSTRACT Recurrent proximal 16p11.2 deletion (16p11.2del) is risk factor of diverse neurodevelopmental disorders (NDDs) with variable penetrance. Although previous human induced pluripotent stem cell (hiPSC) models 16p11.2del confirmed disrupted neuron development, it not known which gene(s) at this interval are mainly responsible for the abnormal cellular phenotypes and how NDD penetrance regulated. After haplotype phasing region, we generated hiPSCs two families distinct residual...
Genome sequencing(GS) has been applied in the diagnosis of global developmental delay(GDD)/intellectual disability(ID). However, performance those with inconclusive results from chromosomal microarray analysis(CMA) and exome sequencing(ES) is unknown. We recruited 100 pediatric GDD/ID patients multiple sites China February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test prior enrollment. Reanalysis CMA/ES data was performed. The yield GS calculated...