A5074182266- Adipose Tissue and Metabolism
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Alzheimer's disease research and treatments
- Energy Load and Power Forecasting
- Thermoregulation and physiological responses
- Proteoglycans and glycosaminoglycans research
- GDF15 and Related Biomarkers
- Cell Adhesion Molecules Research
- Regulation of Appetite and Obesity
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Growth Hormone and Insulin-like Growth Factors
- Epigenetics and DNA Methylation
- Nuclear Receptors and Signaling
- Liver Disease Diagnosis and Treatment
- Diabetes Treatment and Management
- Customer churn and segmentation
- Memory and Neural Mechanisms
- interferon and immune responses
- Autism Spectrum Disorder Research
- Cholinesterase and Neurodegenerative Diseases
- Congenital heart defects research
- Thermal Regulation in Medicine
Zhejiang University
2024-2025
Huazhong University of Science and Technology
2018-2024
Tongji Hospital
2018-2024
Abstract Context Aggrecan, encoded by the ACAN gene, is main proteoglycan component in extracellular cartilage matrix. Heterozygous mutations have been reported to cause idiopathic short stature. However, prevalence of pathogenic variants Chinese stature patients and clinical phenotypes remain be evaluated. Objective We sought determine among children characterize phenotypic spectrum their responses growth hormone therapies. Patients Methods Over 1000 unrelated ascertained across China were...
Abstract Abnormal tau accumulation and spatial memory loss constitute characteristic pathology symptoms of Alzheimer disease (AD). Yet, the intrinsic connections mechanism between them are not fully understood. In current study, we observed a prominent AD‐like hyperphosphorylated truncated (hTau N368) proteins in hippocampal dentate gyrus (DG) mossy cells 3xTg‐AD mice. Further investigation demonstrated that ventral DG (vDG) cell‐specific overexpressing hTau for 3 months induced cognitive...
Abstract Platelets may serve as a perfect peripheral source for exploring diagnostic biomarkers Alzheimer's disease (AD); however, the molecular linkage between platelet and brain is missing. To find common altered driving molecules in both platelet, we performed an integrated analysis of our omics reported literature, analyzed their correlations with AD‐specific pathology cognitive impairment. By integrating gene protein expression profiles from 269 AD patients, deduced 239 differentially...
Abstract Background ACAN (OMIM 155760) is located on chromosome 15q26 and encodes the production of aggrecan. Aggrecan a large chondroitin sulfate proteoglycan with molecular weight 254 kDa contains 2530 amino acids. It critical structural component extracellular matrix cartilage, including growth plate, articular, intervertebral disk cartilage. plays key role in bone development. Methods Here, we describe two pedigrees loss‐of‐function variants . Whole exome sequencing was performed for...
Abstract Single‐nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these imbalances confirmed interact with developmental delays, intellectual disabilities (IDs), and congenital defects. Here, we a Chinese girl 3.18‐Mb deletion at 12q12 (human genome build 19: 43,418,911‐46,601,627) who showed postnatal growth delay, low‐set ears, small hands feet, spaced nipples, blue sclerae. Deletions are extremely rare chromosomal imbalances; only...
Autism spectrum disorder (ASD) is a neurodevelopmental with high social burden and limited treatments. Hypoxic condition of the brain considered an important pathological mechanism ASD. HIF1A key participant in hypoxia, but its contribution to pathophysiological landscape ASD remains unclear.
Abstract Background: Clinical benefit of PARP inhibitors or Platinum-based chemotherapy has been observed and well proved in BRCA mutation patients. However, there are other mechanisms to induce recombination repair deficient (HRD), such as methylation, ATM expression loss; HRR gene addition mutation. Whether these complicated HRD events phenotype could be measured by a unified model accurately identify positive patients is important. Methods: In this study, we use support vector machine...