A5100609360- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Microtubule and mitosis dynamics
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Cleft Lip and Palate Research
- Genetic Associations and Epidemiology
- Sulfur Compounds in Biology
- Chromosomal and Genetic Variations
- Glycosylation and Glycoproteins Research
- Traditional Chinese Medicine Studies
- Sexual Differentiation and Disorders
- Genomics and Phylogenetic Studies
- Proteoglycans and glycosaminoglycans research
- Genomics and Chromatin Dynamics
- Fetal and Pediatric Neurological Disorders
- RNA Research and Splicing
- Axon Guidance and Neuronal Signaling
- Folate and B Vitamins Research
- Neurogenetic and Muscular Disorders Research
- Viral gastroenteritis research and epidemiology
- Hedgehog Signaling Pathway Studies
Hunan Provincial Maternal and Child Health Hospital
2011-2023
Hunan Children's Hospital
2011-2023
Xiangya Hospital Central South University
2023
Central South University
2023
University of South China
2023
National Health and Family Planning Commission
2020-2021
Shanghai Veterinary Research Institute
2020
Chinese Academy of Agricultural Sciences
2020
Sun Yat-sen University
2015
Jiangsu Provincial Center for Disease Control and Prevention
2008-2015
H2S, the newly discovered gasotransmitter, plays important roles in biological systems. However, research on H2S has been hindered by lack of controllable donors that could mimic slow and continuous generation process vivo. Herein we report a series cysteine-activated donors. Structural modifications these molecules can regulate rates generation. These compounds be useful tools research.
Previous studies have shown that both single nucleotide polymorphisms (SNPs) and questionnaires-based method can be used for twin zygosity determination, but few validation been conducted using Chinese populations. In the current study, we recruited 192 same sex adult pairs to evaluate validity of genetic markers-based questionnaire-based in determination. We considered relatedness analysis based on more than 0.6 million SNPs genotyping as golden standards After quality control, qualified...
Small molecular inhibitors or drugs targeting specific alterations are widely used in clinic cancer therapy. Despite the success of targeted therapy, development drug resistance remains a challenging problem. Identifying mechanisms for therapy is an area intense investigation, and recent evidence indicates that cellular polyploidy may be involved. Here, we demonstrate cell cycle kinase inhibitor, Oxindole-1 (Ox-1), induces mitotic slippage, causing resistant acute myeloid leukemia (AML)...
Abstract Background Porcine epidemic diarrhea virus (PEDV) infection causes an acute enteric tract infectious disease characterized by vomiting, anorexia, dehydration, weight loss and high mortality in neonatal piglets. During PEDV infection, the spike protein (S) is a major virion structural interacting with receptors inducing neutralizing antibodies. However, B-cell epitopes within S have not been well studied. Methods To accurately identify important immunodominant region of S1, purified...
Congenital pseudarthrosis of the tibia (CPT, HP:0009736), commonly known as bowing tibia, is a rare congenital malformation characterized by spontaneous tibial fractures and difficulty in reunion after during early childhood, with prevalence between 1/250,000 1/140,000. While 80%-84% CPT cases present neurofibromatosis type 1, caused variations NF1 gene, underlying cause remains unclear. Considering its nature low prevalence, we hypothesized that genomic protein-damaging may contribute to...
The actin cytoskeleton is regulated by many proteins including capping that stabilize filaments (F-actin) inhibiting polymerization and depolymerization. Here, we report two pediatric probands who carry damaging heterozygous de novo mutations in CAPZA2 (HGNC: 1490) exhibit neurological symptoms with shared phenotypes global motor development delay, speech intellectual disability, hypotonia a history of seizures. encodes subunit an F-actin-capping protein complex (CapZ). CapZ obligate...
SUPT16H encodes the large subunit of FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in SUPT16H. The probands exhibit global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities. used Drosophila to characterize variants: p.T171I p.G808R. Loss fly ortholog, dre4, causes lethality at...
Abstract Background ARNT, a member of the basic helix-loop-helix family transcription factors, is located on human chromosome 1q21–q24, region which showed well replicated linkage to type 2 diabetes. We hypothesized that common polymorphisms in ARNT gene might increase susceptibility diabetes through impaired glucose-stimulated insulin secretion. Methods selected 9 single nucleotide tag variation across gene. Additionally we searched for novel variants functional coding domains European...
Aim De novo DDX3X variants account for 1–3% of unexplained intellectual disability cases in females and very rarely males. Yet, the clinical genetic features neurodevelopmental disorder Chinese cohort have not been characterized. Method A total 23 patients (i.e., 22 female 1 male) with de deleterious were detected among 2,317 probands (ID) undertaking whole exome sequencing (WES). The age, sex, data, feeding situation, growth, developmental conditions, auxiliary examinations collected....
The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. Robo family proteins controls midline crossing commissural neurons during development flies. Mono- and bi-allelic variants human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance variable expressivity for a breath phenotypes, including neurodevelopmental defects such as strabismus, pituitary defects, intellectual impairment, well heart...
Neurodevelopmental diseases are increasingly recognized to be caused by "de novo" variants with the expanding use of next-generation sequencing. The apparent de novo may actually low-level hereditary parental mosaic variants, which could increase recurrence risk disease >50% and is thought an underappreciated cause neurodevelopmental diseases. Our study aimed investigate frequency mosaicism in A total 237 patients (and parents) carrying pathogenic or likely were recruited consecutively. Deep...
Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic environmental sciences. Rapid developments in sequencing techniques have made it possible to identify new disease-causing genes. Our study aimed novel genes associated with NDDs. Trio whole-exome was performed evaluate potential NDD variants. We identified three unrelated patients compound heterozygous DNAH14 The detailed clinical information results of the recruited were obtained systematically...
Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of transportation caused by mutations in the SLC22A5 that lead to low serum levels and decreased intracellular accumulation. Characteristic clinical findings are hypoketotic hypoglycemia skeletal cardiac myopathy. Objective To genetically diagnose 24 unrelated Chinese patients with PCD, including 18 infants six adults. Methods The entire coding region intron–exon boundaries were amplified polymerase...
In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.His638Tyr c.5750A>G, p.Asn1917Ser) segregated microcephaly, short stature, limb-extremity dysplasia, reduced testicular size, while monoallelic and/or size 1,264 unrelated patients, variant screening for same (c.5750A>G, other significantly associated infertility. Two lines of...
Hydrogen sulfide (H2S), which was formerly recognized as a colorless, toxic gas, recently reported to be novel gasotransmitter. Cystathionine β-synthase (CBS) and cystathionine γ-lyase (CSE) are the two main H2S-generating enzymes characterized by tissue-specific expression. CSE is predominantly located in heart.1 Like its cousins nitric oxide (NO) carbon monoxide (CO), H2S simple inorganic molecule with similar properties, such rapid diffusion short life span. involved multifunctional...
Abstract Background This study aimed to define the molecular basis for 12 prenatal cases of Cri‐du‐chat syndrome (CdCS) and potential genotyping‐phenotyping association. Methods Karyotyping single nucleotide polymorphism array analyses copy number variants were performed. Results Nine had 5p terminal deletions three interstitial deletions, these variable deletion sizes with partial overlapping. Phenotypically, besides intrauterine growth restriction (IUGR) brain as well heart abnormalities,...
Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital defects (CHD) such as TOF were to be associated with 9qter duplications.A 23-year-old woman was referred for genetic counseling prenatal diagnosis at 25(3/7) weeks gestation due her male fetus, diagnosed Tetralogy Fallot Syndrome (TOF) by ultrasound. SNP...
Abstract Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It still challenging to make a definite diagnosis for affected fetuses TCS only depending on ultrasound screening. Genetic tests can contribute accurate those prenatal cases. Methods Targeted exome sequencing was performed in fetus Chinese family, who presenting abnormal facial appearance by 2D and 3D screening, including...