Publications by authors named "Dong-lan Sun"
Article Synopsis
- Inherited neuromuscular disorder (IND) is a complex group of diseases caused by genetic mutations affecting the nervous system and muscles, making diagnosis and management challenging due to its variability.
- The study examined three pediatric cases of IND using whole-exome sequencing (WES) for genetic investigation, uncovering novel variants in the genes associated with each case, including a first-time reported mutation.
- Structural analysis of one identified type of variant highlighted changes in protein structure and bonding, emphasizing the study's contribution to understanding IND's mutation spectrum and aiding in accurate diagnoses and consultations.
Article Synopsis
- * A detailed clinical evaluation and whole-exome sequencing (WES) were performed on a boy with CPSKF1B and his family to identify the genetic causes, leading to the discovery of a compound heterozygous MYH3 variation with two distinct mutations.
- * The study's findings improved understanding of CPSKF1B mutations, aiding in family counseling and establishing a foundation for further research on MYH3-related conditions.
Defects in migration and invasion caused by dysregulation of trophoblast epithelial-mesenchymal transformation (EMT) are one of the key factors in the pathogenesis of preeclampsia (PE). RNA-binding motif protein 25 (RBM25) is an RNA-binding protein involved in a variety of cellular processes, including cell proliferation, apoptosis, cell migration and invasion, and EMT. However, the expression and function of RBM25 in placental of PE remain unclear.
View Article and Find Full Text PDFBackground: Vascular endothelial growth factor (VEGF) is a major angiogenic factor involved in a number of pathological processes, including neovascularization, a crucial step in the development of solid malignancies. The aim of this study was to investigate the association of polymorphisms in the VEGF gene with susceptibility to epithelial ovarian cancer (EOC).
Methods: This case-control study included 303 EOC patients and 303 healthy controls.
Polymorphisms in promoter region of FAS and FASL gene and risk of cardia gastric adenocarcinoma.
J Gastroenterol Hepatol
March 2010
Background And Aim: The FAS and FASL system play an important role in regulating apoptotic cell death. This study was designed to investigate the correlation of FAS-1377 G/A, -670 A/G and FASL-844 T/C polymorphisms with susceptibility to gastric cardiac adenocarcinoma in a population of a high-incidence region of Hebei Province.
Methods: FAS-1377 G/A, -670 A/G and FASL-844 T/C polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis in 262 gastric cardiac carcinoma (GCA) patients and 524 healthy controls.
[CDH1 polymorphism and its association with the risk of cervical cancer].
Zhonghua Fu Chan Ke Za Zhi
January 2009
Objective: To investigate the effect of CDH1 3'-UTR + 54C/T single nucleotide polymorphism (SNP) on expression of luciferase reporter gene and its association with susceptibility to cervical cancer.
Methods: The luciferase gene expression vectors containing CDH1 3'-UTR+54C/T SNP C or T allelotype were constructed. The effect of CDH1 3'-UTR+54C/T SNP on expression of luciferase reporter gene in 293 T cells were tested by daul luciferase reporter assay system.
The aim of the present study was to investigate the association of single nucleotide polymorphisms (SNPs) in matrix metalloproteinase (MMPs) with the risk of gastric cardia adenocarcinoma (GCA) and esophageal squamous cell carcinoma (ESCC). Genotypes were analyzed by polymerase chain reaction-restriction fragment-length polymorphism method in 592 patients and 624 healthy individuals. Significant differences in allele and genotype distributions of MMP-2 -1306C --> T SNP were observed between ESCC and controls (P = 0.
View Article and Find Full Text PDFArticle Synopsis
- Vascular endothelial growth factor (VEGF) is linked to the development of endometriosis, and this study aimed to examine the relationship between different VEGF gene polymorphisms and the risk of developing the condition.
- The research involved 344 women with endometriosis and 360 healthy controls, focusing on specific polymorphisms in the VEGF gene using genotyping techniques.
- Results showed that the -1154G/A and -2578C/A polymorphisms had significant differences in frequencies between the two groups, suggesting that certain haplotypes and the -1154A and -2578A alleles might protect against endometriosis in North Chinese women.
Objective: This study was to investigate the association of p73 G4C14-to-A4T14 and Murine Double Minute2 (MDM2) 309T/G, Del1518+/- single nucleotide polymorphisms with the risk of epithelial ovarian cancer (EOC) in Chinese.
Materials And Methods: This hospital-based case-control study included 257 ovarian cancer patients and 257 healthy women who were matched for age. p73 and MDM2 genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism.
[Association of single nucleotide polymorphisms in VEGF gene with the risk of endometriosis and adenomyosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2009
Objective: To investigate the association of single nucleotide polymorphisms (SNPs) in VEGF gene with the risk of endometriosis and adenomyosis.
Methods: Genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 344 endometriosis patients, 174 adenomyosis patients, 360 frequency-matched control women of endometriosis and 199 frequency-matched control women of adenomyosis.
Results: No significant difference was found in allele frequencies and genotype distributions of the -460C/T polymorphism between patients (endometriosis and adenomyosis) and control women (all P value > 0.
Backgrounds And Aims: Growing evidences indicate that single nucleotide polymorphisms (SNPs) of matrix metalloproteinases (MMPs) gene promoter may alter MMPs protein expression levels to influence malignant tumors developing and progressing. Our study was to assess the effects of the SNPs in the promoter region of MMP-12 and MMP-13 on the risk of epithelial ovarian carcinoma (EOC) developing and progressing.
Methods: MMP-12 A-82G and MMP-13 A-77G SNPs were genotyped by polymerase chain reaction-restriction fragment length polymorphism in 256 EOC patients and 329 controls.