A5100428515- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- melanin and skin pigmentation
- Biochemical Analysis and Sensing Techniques
- Genetic Associations and Epidemiology
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Head and Neck Cancer Studies
- Cancer-related molecular mechanisms research
- Microtubule and mitosis dynamics
- Tryptophan and brain disorders
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Lung Cancer Research Studies
- Cardiovascular Health and Disease Prevention
- Preterm Birth and Chorioamnionitis
- Medical Imaging and Pathology Studies
- Male Breast Health Studies
- Head and Neck Surgical Oncology
- Dendrimers and Hyperbranched Polymers
- Photochromic and Fluorescence Chemistry
- Genomics and Phylogenetic Studies
- 14-3-3 protein interactions
Capital Institute of Pediatrics
2025
Sichuan Agricultural University
2024
Ministry of Agriculture and Rural Affairs
2024
Fujian Provincial Hospital
2024
Fujian Medical University
2024
Xiangya Hospital Central South University
2019-2023
Central South University
2010-2023
Third Xiangya Hospital
2010-2023
ShanghaiTech University
2022
Second Xiangya Hospital of Central South University
2021-2022
Abstract Background Recently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings complex neuropsychiatric disorders, including bipolar disorder (BD). Methods Here we describe a comprehensive study of (BD), cross-referencing analysis from family-based 229 small families with over 950 and ethnicity-matched the UK Canada. Further, loci identified in these analyses were supported by pathways through...
De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome (WGS) provide effective methods for detecting DNMs prioritizing candidate genes. However, it remains a challenge scientists, clinicians, biologists conveniently access analyse data regarding genes from scattered publications. To fill the unmet need, we integrated 580 799 DNMs, including 30 060 coding detected by WES/WGS 23 951...
Abstract Non-coding variants in the human genome significantly influence traits and complex diseases via their regulation modification effects. Hence, an increasing number of computational methods are developed to predict effects non-coding sequences. However, it is difficult for inexperienced users select appropriate from dozens available methods. To solve this issue, we assessed 12 performance metrics 24 on four independent variant benchmark datasets: (1) rare germline clinical relevant...
β-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease with developmental retardation, epilepsy and extrapyramidal symptoms, associated mutations in WDR45. In this article, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) of 3-year-old girl who carries splice site mutation c.827 + 1G > A The exhibited high expression pluripotency genes, normal karyotype, good ability embryoid bodies differentiation.
Synthesis and biological evaluation of unsymmetrical curcumin analogues (UCAs) have been achieved. Tyrosinase inhibitory activities were found for most the prepared synthetic UCAs. Among them, compounds containing 4-hydroxyl-substituted phenolic rings with C-2/C-4- or C-3/C-4-dihydroxyl-substituted diphenolic more active (IC50 = 1.74~16.74 μM) than 4-butylresorcinol kojic acid, which suggested that 4-hydroxyl groups in UCAs play a crucial role tyrosinase activities. The inhibition kinetics...
Vascular endothelial function and atherosclerosis are known to be important risk factors for cardiovascular disease. However, it remains unknown whether remnant cholesterol (RC) correlates with vascular as represented by flow-mediated vasodilation (FMD) brachial-ankle pulse wave velocity (baPWV). Therefore, in this study, we aimed investigate the general population.
Ketamine exposure can model cognitive deficits associated with schizophrenia. Progesterone (PROG) and its active metabolite allopregnanolone (ALLO) have neuroprotective effects the pathway involving progesterone receptor membrane component 1 (PGRMC1), epidermal growth factor (EGFR), glucagon-like peptide-1 (GLP-1R), phosphatidylinositol 3 kinase (PI3K), protein B (Akt) appears to play a key role in their neuroprotection. The present study aimed investigate of PROG (8,16 mg kg −1 ) ALLO on...
Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify cause(s) for a LGMD pedigree via combination of whole exome sequencing Sanger sequencing. Digenic variants, titin gene ( TTN ) c.19481T>G (p.Leu6494Arg) trafficking protein particle complex 11 TRAPPC11 c.3092C>G (p.Pro1031Arg),...
Oculocutaneous albinism type 1 (OCA1), resulting from pathogenic variants in the tyrosinase (TYR) gene, refers to a group of phenotypically heterogeneous autosomal recessive disorders characterized by partial or complete absence pigment skin/hair and is also associated with common developmental eye defects. In this study, we identified two novel compound heterozygous TYR Chinese hypopigmentary patient whole-exome sequencing. Specifically, were c.-89T>G, located at core initiator E-box (Inr...
Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical (NCSVs). However, clinical interpretation NCSVs in neurodevelopmental disorders (NDDs) is largely unknown.
Genotype–phenotype correlations are the basis of precision medicine human genetic diseases. However, it remains a challenge for clinicians and researchers to conveniently access detailed individual-level clinical phenotypic features patients with various variants. To address this urgent need, we manually searched studies in PubMed catalogued 8,309 variants 1,288 genes from 17,738 1,855 publications. Based on genotype–phenotype dataset, developed an user-friendly online database called...
Abstract Objectives We sought to construct a nomogram model predicting lymph node metastasis (LNM) in patients with squamous cell carcinoma of the buccal mucosa based on preoperative clinical characteristics. Methods Patients who underwent radical resection primary tumor neck dissection were enrolled. Clinical characteristics independently associated LNM multivariate analyses adopted build model. at low risk defined by predicted probability less than 5%. Results surgery an earlier period...
Follicle development refers to the process in which follicles ovary gradually develop from primary stage a mature state, and most fail normally, without forming dense granular cell layer wall, is identified as atretic follicles. Granulosa cells assist follicle by producing hormones providing support, interference interaction between granulosa oocytes may lead formation of Ferroptosis, non-apoptotic form death, caused accumulating lethal levels iron-dependent phospholipid peroxides. Healthy...
Increasing evidences suggest that mitochondrial dysfunction is implicated in diseases and aging, whole-genome sequencing (WGS) the most unbiased method analyzing genome (mtDNA). However, genetic landscape of mtDNA Chinese population has not been fully examined. Here, we described using WGS data from individuals (n = 3241). We identified 3892 variants, which 3349 (86%) were rare variants. Interestingly, observed a trend toward extreme heterogeneity Our study distinct purifying selection on...
Folate deficiency is an environmental risk factor for several developmental disorders. De novo mutations (DNMs) also play important etiological roles in various However, it remains unclear whether DNMs folate-related genes (FRGs) contribute to We obtained a list of 1,821 FRGs from folate metabolism pathways and the Comparative Toxicogenomics Database, along with data concerning 15,404 cases 3,391 controls Gene4Denovo database. used TADA-Denovo model prioritize candidate disease-associated...