Publications by authors named "Donglan Sun"

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  • * Researchers created human induced pluripotent stem cells (hiPSCs) from a 4-year-old boy with BWCFF who carries a mutation in the ACTB gene, revealing that these cells had normal karyotypes and could develop into various cell types.
  • * These patient-derived hiPSCs are crucial for studying BWCFF in the lab and understanding how mutations in the ACTB gene may contribute to the disorder's symptoms.
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  • 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.
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  • * 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.
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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.

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To study the effect of solvent on supramolecular self-assembly behaviors, a chiral courmarin-substituted glutamine amphiphile, L/DG-Cm, was synthesized for investigation. It was found that L/DG-Cm self-assembled into short nanotubes in toluene, while it formed longer nanotubes together with an obvious helix nanobelt structure for L/DG-Cm in DMSO, demonstrating that the nanotubes were formed by nanobelt rolling. The CD and CPL spectra revealed the same chiral property of the L/DG-Cm assemblies formed in toluene and DMSO.

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  • - Short-rib thoracic dysplasia 3 (SRTD3) is a severe genetic disorder that leads to shortened limbs and narrow thorax, sometimes with extra fingers or toes, caused by specific mutations in a gene, making it a recessive disorder.
  • - Researchers conducted genetic testing on families with a history of fetal skeletal dysplasias and identified two compound heterozygous mutations in the 2H1 gene through whole-exome sequencing (WES), which included one novel deletion.
  • - The study confirmed the genetic basis of the skeletal dysplasia in these families, aiding future prenatal counseling and demonstrating the effectiveness of WES in diagnosing complex genetic disorders.
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Objective: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions.

Methods: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis.

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Objective: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.

Methods: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells.

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Objective: To explore the genetic basis for a Chinese pedigree affected with congenital cataracts.

Methods: Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants.

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Objective: To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.

Methods: Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood.

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  • FeO/TiO magnetic mesoporous composites were created using a sol-gel method with specific precursors and templates.
  • These composites were tested for their effectiveness in degrading pollutants like Acid Black ATT and tannery wastewater when exposed to UV light.
  • The most effective composite had 8 wt% FeO and demonstrated strong photocatalytic stability, highlighting a potential method for improving catalytic performance in such systems.
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Ordered mesoporous TiO materials are successfully synthesized via a sol-gel route using butyl titanate as a precursor and sodium dodecyl benzene sulfonate surfactants as soft templates. The as-prepared TiO samples possess a relatively high surface area of 40.03 m/g and the center of pore diameter distribution of 13.

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Objective: To screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.

Methods: In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.

Results: Twenty women (6.

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Hearing loss is the most common sensory disorder, and at least 50% of cases are due to a genetic etiology. Two-thirds of individuals with congenital deafness are nonsyndromic. Among the nonsyndromic forms, the large majority are monogenic autosomal recessive traits.

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A novel rod-shape sonocatalyst Sr(OH)2·8H2O was prepared by a facile precipitation method, and characterized by X-ray powder diffraction, transmission electron microscopy, Fourier transform infrared spectroscopy and UV-vis absorption spectroscopy. Comparative sonocatalytic degradation experiments were carried out in different conditions under ultrasonic irradiation by using rhodamine B (RhB) as the model substrate, indicating that Sr(OH)2·8H2O was highly sonocatalytic. Total organic carbon experiment demonstrated Sr(OH)2·8H2O with mass mineralization of organic carbon.

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  • The study examines how genetic variations in the E-cadherin gene (CDH1), specifically the 3'-UTR +54C/T polymorphism (rs1801026), affect the risk of developing certain cancers.
  • It analyzes data from 1,081 cancer patients and 1,131 control subjects in northern China, finding that carriers of the T allele have a significantly lower risk of developing gastric cancer, lung cancer, and cervical cancer.
  • Additionally, the frequency of the T allele is notably lower in later-stage cervical cancer patients, suggesting that this polymorphism may indicate genetic susceptibility to these cancers.
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Background: 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.

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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.

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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.

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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.

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  • 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.
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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.

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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.

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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.

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The matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinases (TIMPs) may contribute to the development of adenomyosis. The aim of the present study was to investigate whether three single nucleotide polymorphisms (SNPs) in the promoter regions of MMP-2 (-1306C/T and -735C/T) and TIMP-2 (-418G/C) genes were related to the risk of adenomyosis development. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 180 adenomyosis patients and 324 frequency-matched control women in a Chinese population.

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