To explore a causal relationship between ferroptosis-related gene heat shock protein A5 (HSPA5) and hepatocellular carcinoma (HCC).

Objective: To analyze and clarify the clinical and pathogenic gene variation and genetic etiology of polycystic liver disease. Methods: The proband clinical data and family history were collected. Whole-exome sequencing technology was used to detect the proband gene variations. Fluorescence quantitative PCR validation was performed on the proband and his family to screen out pathogenic gene variation. Results: A multiple liver cyst was found in an 18-year-old male proband during a physical examination. There were no abnormalities in his liver function, and both his father and grandfather had multiple liver cysts without any obvious discomfort or other special manifestations. Whole exome sequencing suggested a heterozygous deletion in exon 1 (Exon 1) of the SEC63 gene in the proband. Real-time fluorescence quantitative PCR confirmed that the heterozygous deletion variation of the SEC63 gene Exon 1 of the proband came from his father, and the same heterozygous deletion was detected in his grandfather. The gene variant had a pathogenic variation that had been rarely reported before and was in accordance with the the American college of Medical Genetics and Genomics (ACMG) guidelines. Conclusions: The genetic etiology of this autosomal dominant polycystic liver disease has been clarified, and the heterozygous deletion of Exon1 of the SEC63 gene is a newly discovered gene variation that broadens the variation spectrum of the SEC63 gene.

Objective: To experimentally validate clinical samples, analyze the mRNA expression of the FYVE domain containing phosphatidylinositol 3-phosphate 5 kinase (PIKFYVE) gene, and its clinical significance based on the Cancer Genome Atlas (TCGA) database in hepatocellular carcinoma (HCC). Methods: Data information on 424 clinical samples (including 374 cases of HCC tissues and 50 cases of non-tumorous liver tissues) were collected based on the TCGA database. Cox regression analysis and the Kaplan-Meier method were used to analyze the relationship between mRNA expression of the PIKFYVE gene and the clinical characteristics as well as survival prognosis in patients with HCC. The relationship between the PIKFYVE gene and immune cell infiltration was examined by correlation analysis with 24 kinds of immune cells. In addition, the mRNA expression level of the PIKFYVE gene and RAC-alpha serine/threonine-protein kinase (AKT1), phosphatase and tensin homolog (PTEN), protein kinase C alpha (PRKCA), inositol polyphosphate-5-phosphatase (INPP5D), phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1), inositol polyphosphate 4-phosphatase type II (INPP4B) and phospholipase C beta 4 (PLCB4) gene correlations were analyzed in HCC tissues. At the same time, paraffin sections of highly differentiated, moderately differentiated, poorly differentiated, and non-tumor liver tissues from patients with HCC were collected from the Department of Pathology of the First Affiliated Hospital of Xinjiang Medical University. The histopathological observation was performed by HE staining. Immunohistochemistry was used to verify the expression levels of the PIKFYVE and Ki67 proteins in each clinical sample. The t-test was used for intergroup comparison of continuous data. The χ2 test and Wilcoxon rank sum test were used for intergroup comparison of enumeration data. The Kaplan-Meier method was used for survival analysis. Results: The expression level of the PIKFYVE gene was higher in the HCC tumor than that in normal liver tissue (P<0.01). The overall survival time of patients was significantly longer in the low expression group than that in the high expression group (HR=1.57, 95%CI: 1.10～2.25, P=0.014). The results of univariate Cox regression analysis showed that tumor stage, pathological grade, tumor status, residual tumor, and PIKFYVE expression level all had an effect on OS (P<0.05). The PIKFYVE prognostic risk model had a proportionate score of HR=1.533 (95%CI: 1.077～2.181, P=0.018). Multivariate Cox risk regression analysis showed that the PIKFYVE prognostic risk model had a proportionate score of HR=1.481 (95%CI: 0.886～2.476, P=0.134) and an area under the receiver operating characteristic curve of 0.559, indicating that it had predictive value for survival prediction. The results of the correlation analysis showed that the expression level of PIKFYVE was strongly correlated with immune cell infiltration and TP53 (P<0.01). The results of immunohistochemical staining showed that the expression level of PIKFYVE was significantly higher in HCC tissue samples than that in non-tumor liver tissues (P<0.01), and was negatively correlated with the degree of differentiation. Conclusion: PIKFYVE, as an independent risk factor, is expected to be developed into a biomarker for clinical diagnosis, offering a reference for novel therapeutic agents in HCC.

The "Developmental Origins of Health and Disease, DOHaD" theory suggests that adverse factors in early life can lead to the occurrence of chronic diseases in adulthood. In recent years, it has been discovered that maternal factors, intrauterine development environment and environmental exposure during pregnancy can mediate the changes of early egg/embryo development, promote the occurrence of reproductive disorders such as polycystic ovary syndrome, diminished ovarian reserve, and endometriosis, and induce intergenerational genetic effects. This article has reviewed the progress of research on maternal factors which may affect the pathogenesis of reproductive disorders, and expounds its mechanism from the perspectives of epigenetic mechanisms such as DNA methylation, histone modification and non-coding small RNA (miRNA) modification, with an aim to provide insights for studying the occurrence of adult reproductive disorders in early life and before pregnancy.

To investigate the mechanism mediating the regulatory effect of lncRNA MAGI2-AS3 on cisplatin (DDP) resistance in non-small cell lung cancer (NSCLC).

To investigate the mechanism of Nlrp6 for regulating hepatocellular carcinoma (HCC) progression in light of lipid synthesis regulation.

To investigate the regulatory effects of LINC00467 on proliferation and metastasis of lung adenocarcinoma cells and the involvement of autophagy in its regulatory mechanism.

To explore the potential role and mechanism of compound tetramethylpyrazine in gastric cancer therapy by using network pharmacology analysis combined with gene function annotation and clinical data analysis.

To investigate the effect of miR-2110 on the biological behaviors, such as cell proliferation, apoptosis, and metastasis, of lung adenocarcinoma (LUAD) cells by means of cell and animal experiments.

To investigate the expression of inositol polyphosphate 4-phosphatase type Ⅱ B (INPP4B) in colorectal cancer (CRC) and the relevant clinical significance, to determine the relationship between INPP4B and matrix metallopeptidase 7 (MMP7) in CRC cells, and to make preliminary exploration of the effects of INPP4B on the proliferation and migration of CRC cells and mechanisms involved.

To investigate the expression and clinical significance of circular RNA (circRNA) 051778 in lung adenocarcinoma-malignant pleural effusion (LA-MPE) and tuberculous pleural effusion (TPE).

To investigate the role of fragile X mental retardation protein (FMRP) in promoting cell migration and epithelial-mesenchymal transition (EMT) in breast cancer (BC) and the potential mechanisms involved.

To investigate the clinicopathological features, immunophenotypes, molecular genetic alterations, and prognosis of succinate dehydrogenase-deficient renal cell carcinoma (SDH-RCC).

To analyze the expression of CREM in gastric cancer (GC) and its correlation with prognosis of the patients.

To investigate the regulatory effect of KHSRP on progression of gastric adenocarcinoma and the role of the JAK1/STAT3 signaling axis in mediating its effect.

To investigate the mechanism of RNF7 for regulating myeloid-derived suppressor cells (MDSCs) in nonsmall cell lung cancer (NSCLC).

To investigate the expression level of HNRNP A1 in colorectal cancer (CRC) and its prognostic implications.

To explore the regulatory effect of miR-6838-5p on DDR1 gene expression and proliferation of breast cancer cells.

To explore the regulatory role of Abelson interactor 2 (ABI2) in progression and prognosis of gastric cancer.

The prognosis of papillary thyroid carcinoma (PTC) is highly dependent on gene mutations and pathologic features.The common gene mutations in PTC include BRAF V600E,RET/PTC rearrangement,and RAS mutations.These mutations have been suggested to be associated with an increased risk of recurrence,poorer efficacy of postoperative radioactive iodine therapy,and reduced survival.The pathologic subtypes of PTC include classic,follicular,tall cell,hobnail,columnar cell,diffuse sclerosing,solid/trabecular,oncocytic,Warthin-like,clear cell,and spindle cell subtypes,which have different aggressiveness and linked with varied clinical prognosis.Therefore,detecting the gene mutations and pathologic subtypes of PTC is of great importance for therapeutic regimen selection and prognosis evaluation.Ultrasound imaging with non-invasiveness,convenience,and high resolution has become the primary examination method for the diagnosis and treatment of thyroid cancer.This paper reviews the correlations of gene mutations and pathologic subtypes with the ultrasound features of PTC,aiming to give new insights into the application of ultrasound imaging in predicting gene mutations and pathologic subtypes of PTC before surgery as well as provide new ideas for accurate assessment of preoperative prognosis.