The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2021
Objective: To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure.
Methods: The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants.
Objective: CACNA1H is regarded as a gene conferring susceptibility to generalised epilepsy. However, the prognosis of epilepsy patients carrying the CACNA1H missense variants of uncertain significance (VUS) is unknown. A prospective cohort was generated to determine the deleterious effects of these variants and to check whether the presence of these variants affects the prognosis of epilepsy patients.
View Article and Find Full Text PDFDibutyltin dilaurate (DBTD) has multiple applications in daily life. However, DBTD is easily deposited in the liver and affects liver functions. This study was designed to explore the effects of DBTD on triglyceride metabolism in human normal hepatocyte HL7702 cells.
View Article and Find Full Text PDFDiorganotin(IV) antitumor compound bis-[2,6-difluoro--(hydroxyl-<κ>)benzamidato-<κ>] (DBDF2,6T) was one of the novel patent organotin compounds with high antitumor activity and relatively low toxicity. In this study, several methods were used to study the interaction between DBDF2,6T and hPPAR protein, including fluorescence quenching, three-dimensional (3D) fluorescence, drug affinity responsive target stability (DARTS), ultrafiltration-LC, and molecular docking. According to the experimental results, the quenching process of the hPPAR protein was induced by static quenching mode to form a nonradiative ground-state complex with DBDF2,6T spontaneously, mainly through the hydrophobic force.
View Article and Find Full Text PDFJ Zhejiang Univ Sci B
April 2008
Objective: To detect the effect of resistin on the transcription of insulin receptor promoter.
Methods: Luciferase reporter gene was fused downstream of human insulin receptor promoter and the enzymatic activity of luciferase was determined in the presence or absence of resistin. The resistin expressed with plasmid was stained with antibody against Myc tag which was in frame fused with resistin coding sequence, and then imaged with confocal microscopy.
J Zhejiang Univ Sci B
December 2007
Objective: To investigate the relationship between serum resistin level and acute coronary syndrome (ACS) or stable angina pectoris (SAP).
Methods: Sixty-five patients, with coronary artery disease, were enrolled and divided into three subgroups: acute myocardial infarction (AMI), unstable angina pectoris (UAP) and SAP, and 26 healthy people were recruited as controls in the cross-sectional study. Serum resistin levels were determined by ELISA (enzyme-linked immunosorbent assay), and WBC (white blood cell count), hsCRP (high sensitive C-reaction protein), CK(max) (maximum of creatinkinase), CK-MB(max) (maximum of isozyme of creatinkinase) and cTnI(max) (maximum of troponin) were measured by standard laboratory methods.
Zhejiang Da Xue Xue Bao Yi Xue Ban
November 2007
Objective: To assemble the full-length of human resistin gene in vitro by using oligonucleotides and to construct its eukaryotic expression vector.
Methods: According to the gene sequence of resistin (GenBank: AF323081), 10 oligonucleotides were designed and synthesized, followed by a touch down PCR to assemble the full-length gene. The PCR products were cloned into pSecTag2B vector and confirmed by sequencing.