Background and objectiveMaintenance of genomic integrity is essential to ensure normal organismal development and to prevent diseases such as cancer. PR-Set7 (also known as Set8) is a cell cycle regulated enzyme that catalyses monomethylation of histone 4 at Lys20 (H4K20me1) to promote chromosome condensation and prevent DNA damage. Recent studies show that CRL4CDT2-mediated ubiquitylation of PR-Set7 leads to its degradation during S phase and atfer DNA damage. hTis might occur to ensure appropriate changes in chromosome structure during the cell cycle or to preserve genome integrity atfer DNA damage.Methods We developed a new model of lung tumor development in mice harboring a conditionally expressed allele of Cul4A. We have therefore used a mouse model to demonstrate for the ifrst time that Cul4A is oncogenicin vivo. With this model, staining of PR-Set7 in the preneoplastic and tumor lesions in AdenoCre-induced mouse lungs was performed. Meanwhile we identiifed higher protein level changes of γ-tubulin and pericentrin by IHC.Results hTe level of PR-Set7 down-regulated in the preneoplastic and adenocarcinomous lesions following over-expression of Cul4A. We also identiifed higher levels of the proteins pericentrin and γ-tubulin in Cul4A mouse lungs induced by AdenoCre.Conclusion PR-Set7 is a direct target of Cul4A for degradation and involved in the formation of lung tumors in the conditional Cul4A transgenic mouse model.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree where three siblings were affected with Parkinson's disease. METHODS: Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed to detect the causative mutation. Sanger sequencing of cDNA was also used for verify the effect of mutation on the transcription of RNA. RESULTS: Heterozygous deletion of exon 3 of the PARK2 gene was detected by MLPA, while a heterozygous splice site variant c.619-3G>C was detected by NGS. Both mutations were shown to result in aberrant transcripts of the PARK2 gene (loss of exons 3 and 6, respectively) by Sanger sequencing of cDNA. Both mutations have co-segregated with the disease in the pedigree. CONCLUSION Compound heterozygous mutations of the PARK2 gene probably underlie the disease in this pedigree. Identification of the splice site variant c.619-3G>C has expanded the mutation spectrum of the PARK2 gene.
Asian Continental Ancestry Group ; China ; DNA Mutational Analysis ; Exons ; Heterozygote ; Humans ; Mutation ; Parkinson Disease ; genetics ; Pedigree ; Ubiquitin-Protein Ligases ; genetics

No abstract available.
Asian Continental Ancestry Group ; Humans ; Spastic Paraplegia, Hereditary

Adult ; Humans ; Male ; Myoclonic Epilepsies, Progressive ; diagnostic imaging ; genetics ; therapy ; Nerve Tissue Proteins ; genetics ; Pedigree

Ulcerative colitis is a chronic,non-specific inflammatory disease.The persistent damage to its intestinal epithelium is key to the development of the disease.In recent years,a new form of cell death has been identified by researchers-iron death-which is thought to be an important contributor to intestinal epithelial cell death.The occurrence of iron death is often associated with abnormal intracellular iron metabolism,reduced cystine/glutamate reverse transporter activity,abnormal lipid metabolism,voltage-dependent anion channel activation and overexpression of the Nrf2 gene.Iron death can lead to smaller mitochondria,increased membrane density and reduced number of cristae,unlike conventional cell death,which does not exhibit specific phenomena.Studies have found that TCM can alleviate iron death in intestinal epithelial cells by reducing intracellular iron content,inhibiting lipid reactive oxygen species production and regulating Nrf2 gene expression,thus acting as a treatment for ulcerative colitis.Therefore,Chinese medicine may become an important tool for the treatment of ulcerative colitis.This paper reviews the relationship between cellular iron death and ulcerative colitis and the research progress of Chinese medicine in treating ulcerative colitis through the iron death pathway.

【Objective】 To investigate the clinical application of self-developed magnetic anchoring device for assisting thoracoscopic pulmonary resection. 【Methods】 Eleven patients underwent thoracoscopic pulmonary assisted with resection magnetic anchoring technique at the Department of Thoracic Surgery, The First Affiliated Hospital of Xi’an Jiaotong University, from March to May 2019. Their clinical data were retrospectively analyzed. The operation time, blood loss, blood transfusion volume, postoperative hospital stay, and postoperative complications were recorded. 【Results】 There were seven male and four female patients, with the average age of (51.6±13.9) years (range from 22 to 69 years). Three single-port and eight single-utility-port thoracoscopic surgeries were performed. Magnetic instruments provided good surgical field exposure in all operations. Among 11 surgeries, one was converted to thoracotomy and one to three-hole surgery due to enlargement and adhesion of hilar lymph nodes. The operation time was (107.8±63.1) minutes (range of 27-182 minutes). The blood loss was 50 (10-50)mL (range of 5-1 000 mL). No blood transfusion was needed during the operation. The postoperative hospital stay was (5.0±1.8) days (range of 3-9 days). No postoperative complications occurred in all the patients. 【Conclusion】 Magnetic anchor technique can effectively alleviate the "chopstick effect" in thoracoscopic surgery. Magnetic anchor technique is safe and feasible in assisting thoracoscopic pulmonary resection.