21 Result(s)
within
Kun Sun
Biomedicine
-
Article
Open AccessGeneralizable transcriptome-based tumor malignant level evaluation and molecular subty** towards precision oncology
In cancer treatment, therapeutic strategies that integrate tumor-specific characteristics (i.e., precision oncology) are widely implemented to provide clinical benefits for cancer patients. Here, through in-de...
-
Article
Open AccessPathophysiology characterization of Alzheimer’s disease in South China’s aging population: for the Greater-Bay-Area Healthy Aging Brain Study (GHABS)
The Guangdong-Hong Kong-Macao Greater-Bay-Area of South China has an 86 million population and faces a significant challenge of Alzheimer’s disease (AD). However, the characteristics and prevalence of AD in th...
-
Article
Retinal vessel segmentation method based on RSP-SA Unet network
Segmenting retinal vessels plays a significant role in the diagnosis of fundus disorders. However, there are two problems in the retinal vessel segmentation methods. First, fine-grained features of fine blood ...
-
Article
RNA-Sequencing Reveals Gene Expression and Pathway Signatures in Umbilical Cord Blood Affected by Birth Delivery Mode
Cesarean section (CS) confers increased risk of type I diabetes, asthma, inflammatory bowel disease, celiac disease, overweight and obesity, etc., in the offspring. However, the underlying mechanism remains un...
-
Article
Open AccessInitial levels of β-amyloid and tau deposition have distinct effects on longitudinal tau accumulation in Alzheimer’s disease
To better assist with the design of future clinical trials for Alzheimer’s disease (AD) and aid in our understanding of the disease’s symptomatology, it is essential to clarify what roles β-amyloid (Aβ) plaque...
-
Article
Open AccessDe novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children
Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results in abnormal positioning and morphology of the thoracic and abdominal organs. Currently, genet...
-
Article
Open AccessRegulation of the p75 neurotrophin receptor attenuates neuroinflammation and stimulates hippocampal neurogenesis in experimental Streptococcus pneumoniae meningitis
Streptococcus pneumoniae meningitis is a destructive central nervous system (CNS) infection with acute and long-term neurological disorders. Previous studies suggest that p75NTR signaling influences cell survival...
-
Article
Open AccessRadiomics-based machine learning analysis and characterization of breast lesions with multiparametric diffusion-weighted MR
This study aimed to evaluate the utility of radiomics-based machine learning analysis with multiparametric DWI and to compare the diagnostic performance of radiomics features and mean diffusion metrics in the ...
-
Article
Open AccessMutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects
Conotruncal defects (CTDs) are a type of heterogeneous congenital heart diseases (CHDs), but little is known about their etiology. Increasing evidence has demonstrated that fibroblast growth factor (FGF) 8 and...
-
Article
MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation
Conotruncal heart defects (CTDs) are closely related to defective outflow tract (OFT) development, in which cardiac neural crest cells (CNCCs) play an indispensable role. However, the genetic etiology of CTDs ...
-
Article
Open AccessIdentification and analysis of KLF13 variants in patients with congenital heart disease
The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...
-
Protocol
Research Progress in Pathogenesis of Total Anomalous Pulmonary Venous Connection
Congenital heart defect (CHD) is one of the most common birth defects and the leading course of infant mortality. Total anomalous pulmonary venous connection (TAPVC) is a rare type of cyanotic which accounting...
-
Article
Open AccessA loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication
Conotruncal heart defect (CTD) is a complex congenital heart disease with a complex and poorly understood etiology. The transcriptional corepressor RIPPLY3 plays a pivotal role in heart development as a negati...
-
Article
Open AccessIdentification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing
Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence...
-
Article
Open AccessRare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects
Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart disea...
-
Article
Open AccessZoledronate dysregulates fatty acid metabolism in renal tubular epithelial cells to induce nephrotoxicity
Zoledronate is a bisphosphonate that is widely used in the treatment of metabolic bone diseases. However, zoledronate induces significant nephrotoxicity associated with acute tubular necrosis and renal fibrosi...
-
Article
Open AccessFetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA
Noninvasive prenatal testing using massively parallel sequencing of maternal plasma DNA has been rapidly adopted in clinical use worldwide. Fetal DNA fraction in a maternal plasma sample is an important parame...
-
Article
Open AccessNovel TBX1loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion
TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart d...
-
Article
Open AccessDetecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Ge...
-
Article
High Genetic Differentiation of Hippophae rhamnoides ssp. yunnanensis (Elaeagnaceae), a Plant Endemic to the Qinghai-Tibet Plateau
RAPD markers were used to detect genetic diversity and population genetic differentiation of Hippophae rhamnoides ssp. yunnanensis, a sea buckthorn endemic to the Qinghai-Tibet plateau. The genetic parameters of ...
