A5100330491- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- EEG and Brain-Computer Interfaces
- Autism Spectrum Disorder Research
- Neural dynamics and brain function
- Functional Brain Connectivity Studies
- Biochemical and Molecular Research
- Congenital heart defects research
- Genomics and Rare Diseases
- Connective tissue disorders research
- Neuroscience and Music Perception
- Spine and Intervertebral Disc Pathology
- Hearing Loss and Rehabilitation
- Epigenetics and DNA Methylation
- Renal and related cancers
- Pluripotent Stem Cells Research
- Neurogenetic and Muscular Disorders Research
- Folate and B Vitamins Research
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Mapping and Diversity in Plants and Animals
- Genetic Syndromes and Imprinting
- Musculoskeletal pain and rehabilitation
Shenzhen University
2025
Guangzhou Medical University
2021-2024
Shandong Center for Disease Control and Prevention
2023-2024
Qilu Hospital of Shandong University
2015-2024
Shandong University
2023-2024
Sichuan Agricultural University
2024
Ministry of Education of the People's Republic of China
2024
Xiangya Hospital Central South University
2024
Central South University
2017-2024
National Clinical Research
2024
Low back pain and sciatica caused by intervertebral disc (IVD) disease are associated with inflammatory responses. The cytokine interleukin 17 (IL-17) is elevated in herniated degenerated IVD tissues acts as a regulator of inflammation. objective this study was to investigate the involvement IL-17A response explore mechanisms underlying response. Cells were isolated from nucleus pulposus (NP) collected patients undergoing surgeries for degeneration. concentrations COX2 PGE2, well select...
Recent studies have reported intrinsic metabolic reprogramming in Pkd1 knock-out cells, implicating dysregulated cellular metabolism the pathogenesis of polycystic kidney disease. However, exact nature changes and their underlying cause remains controversial. We show herein that k o /ko renal epithelial cells impaired fatty acid utilization, abnormal mitochondrial morphology function, mitochondria kidneys ADPKD patients morphological alterations. further a C-terminal cleavage product...
The histidine protein kinase CheA plays an essential role in stimulus-response coupling during bacterial chemotaxis. is a homodimer that catalyzes the reversible transfer of gamma-phosphoryl group from ATP to N-3 position one its own residues. Kinetic studies rates autophosphorylation show second order dependence on concentrations at submicromolar levels consistent with dissociation into inactive monomers. was confirmed by chemical cross-linking studies. constant (CheA2<==>2CheA; KD =...
Given that adolescence is a critical epoch in the onset of schizophrenia, studying aberrant brain changes adolescent-onset particularly patients with drug-naive first-episode important to understand biological mechanism this disorder. Previous resting-state functional magnetic resonance imaging studies have shown abnormal connectivity separate hemispheres adult-onset schizophrenia. Our aim study schizophrenia can provide clues for early aetiology schizophrenia.A total 48 drug-naïve,...
Lung squamous cell carcinoma (LSCC) is a prevalent form of lung cancer exhibiting distinctive histological and genetic characteristics. Chromosome 3q26 copy number gain (CNG) hallmark LSCC present in >90% tumors. We report that CNGs occur early tumorigenesis, persist during tumor progression, drive coordinate overexpression PRKCI, SOX2, ECT2. Overexpression ECT2 the context Trp53 loss sufficient to transform mouse basal stem cells into tumors with genomic features LSCC. Functionally, PRKCI...
Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes BS in two Chinese patients for first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) exon 5 c.1405G>T (p.Gly469X) 9 FKBP10 were identified one proband. c.1624delT (p.Tyr542Thrfs*18) 14 c.1880T>C (p.Val627Ala) 17 PLOD2 another probrand. Intravenous zoledronate was...
Exonic deletions disrupting the autism susceptibility candidate 2 ( AUTS2 ) gene have been demonstrated as causal variants leading to neurodevelopmental disorders (NDDs) such spectrum disorder (ASD) and developmental delay (DD). Here, we report on 830 kb de novo deletion at chromosome 7q11.22 in a 4‐year‐old male patient with ASD DD. This disrupts promoter region exon 1 of , potentially complete haploinsuffiency gene. In addition, discuss clinical presentation light previous studies...
GRM7, the gene encoding metabotropic glutamate receptor 7 (mGluR7), have been implicated in multiple neuropsychiatric disorders and shown to mediate excitatory synaptic neurotransmitter signaling plasticity mammalian brain. Here we report a 303 kb de novo deletion at band 3p26.1, disrupting five coding exons of GRM7 proband with autism spectrum disorder, hyperactivity. Our exon transcriptome‐mutation contingency index method shows that three within breakpoint boundaries are under purifying...
Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports still from populations European ancestry. To contribute more worldwide genomics data, we investigated etiology 410 Han Chinese patients NDDs (151 autism and 259 unexplained intellectual disability (ID) developmental...