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International Journal of Human Genetics最新文献

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Glucose-Regulated Protein 94 Expression in Patients with Non- Small Cell Lung Cancer and Prognostic Significance 糖调节蛋白94在非小细胞肺癌患者中的表达及预后意义
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-11-03 DOI: 10.31901/24566330.2022/22.04.787
Yusheng Yan
{"title":"Glucose-Regulated Protein 94 Expression in Patients with Non- Small Cell Lung Cancer and Prognostic Significance","authors":"Yusheng Yan","doi":"10.31901/24566330.2022/22.04.787","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.787","url":null,"abstract":"The researchers aimed to study the correlations of expression of glucose-regulated protein 94 (GRP94) with clinicopathological characteristics and prognosis of patients with non-small cell lung cancer (NSCLC). NSCLC tissue specimens were collected from January 2016 to January 2018. The prognostic factors of NSCLC patients were analyzed. Survival curves were plotted. Logistic multivariate regression analysis was performed to explore the factors influencing prognosis. GRP94 protein was mainly expressed in the nucleus in NSCLC and para-carcinoma tissues. The high expression rates of GRP94 in NSCLC tissues were significantly different in patients with and without tumor metastasis after surgery (P<0.05). GRP94-positive NSCLC patients had significantly longer mean survival time than GRP94-negative ones (P<0.01). Positive GRP94 expression, maximum diameter of tumor, pathological type, lymph node metastasis, T stage and postoperative TNM stage were independent risk factors affecting prognosis. GRP94 is an independent factor influencing the prognosis of NSCLC, as a potential target for treatment.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44562442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Long Non-coding Ribonucleic Acid Plasmacytoma Variant Translocation 1 Regulating Octamer Binding Transcription Factor 4 Expression on Hepatocellular Carcinoma Cells 长非编码核糖核酸浆细胞瘤变异易位1调控八聚体结合转录因子4在肝癌细胞中的表达
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-11-03 DOI: 10.31901/24566330.2022/22.04.832
Xiaoshan Lin
{"title":"Effects of Long Non-coding Ribonucleic Acid Plasmacytoma Variant Translocation 1 Regulating Octamer Binding Transcription Factor 4 Expression on Hepatocellular Carcinoma Cells","authors":"Xiaoshan Lin","doi":"10.31901/24566330.2022/22.04.832","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.832","url":null,"abstract":"The researchers aimed to evaluate the effects of long non-coding ribonucleic acid plasmacytoma variant translocation 1 (lncRNA PVT1) regulating octamer binding transcription factor 4 (OCT4) expression on hepatocellular carcinoma (HCC) cells. It was discovered that in contrast to the blank group, si-PVT1 group had lower PVT1 and OCT4 expressions, number of invading cells and wound healing rate, and higher radiosensitivity (P<0.05). OCT4 served as a gene targeted by lncRNA PVT1. The PVT1 group exhibited declined luciferase activity compared with the NC group after transfection with wild-type OCT4 (P<0.05). In comparison with those of the sh-NC group, the number of invading cells and wound healing rate dropped in the sh-OCT4 group (P<0.05). At the same radiation dose, a lower survival fraction than that in the sh-NC group was observed in the sh-OCT4 group (P<0.05). Silencing lncRNA PVT1 significantly suppresses HCC cell invasion as well as migration and elevates their radiosensitivity, probably by down-regulating OCT4 expression.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49178218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlations of Arterial Phase CT Characteristics of Hepatocellular Carcinoma with Differentiation Degree and Expressions of PCNA and PTEN 肝细胞癌动脉期CT特征与分化程度及PCNA、PTEN表达的相关性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-11-03 DOI: 10.31901/24566330.2022/22.04.833
Wei Wang
{"title":"Correlations of Arterial Phase CT Characteristics of Hepatocellular Carcinoma with Differentiation Degree and Expressions of PCNA and PTEN","authors":"Wei Wang","doi":"10.31901/24566330.2022/22.04.833","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.833","url":null,"abstract":"The purpose of this study was to explore the correlations of the arterial-phase enhanced CT characteristics of hepatocellular carcinoma (HCC) with the differentiation degree and expressions of proliferating cell nuclear antigen (PCNA) and phosphatase and tensin homologue (PTEN). Seventy-nine HCC patients who underwent three-phase dynamic contrast-enhanced CT before surgery were selected to observe the arterial-phase characteristics. The degree of HCC tissue differentiation was evaluated by hematoxylin-eosin staining. PCNA and PTEN expressions were detected by immunohistochemistry. Spearman’s correlation analysis was conducted. The tumour size and vascular enhancement characteristics were negatively correlated with HCC differentiation degree and PTEN expression, and positively correlated with PCNA expression. The capsule integrity was positively correlated with HCC differentiation degree and PTEN expression, and negatively correlated with PCNA expression. The arterial-phase CT characteristics of HCC reflect the differentiation degree and expressions of PCNA and PTEN.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46267407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two Null Variants Q2417X and R3409X in FLG Gene are Relevant to Ichthyosis Vulgaris in a Chinese Family FLG基因中的两个空变异株Q2417X和R3409X与一个中国家族的寻常性鱼鳞病相关
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-10-03 DOI: 10.31901/24566330.2022/22.04.826
Haiou Jiang
{"title":"Two Null Variants Q2417X and R3409X in FLG Gene are Relevant to Ichthyosis Vulgaris in a Chinese Family","authors":"Haiou Jiang","doi":"10.31901/24566330.2022/22.04.826","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.826","url":null,"abstract":"Ichthyosis vulgaris (IV) is one of the most ordinary hereditary keratinising illness, characterised by scaly, dry skin, and palmoplantar hyperlinearity. The function loss of filaggrin (FLG) gene mutations is considered as the molecular aetiology for IV. In this study the pathogenic variants of a Chinese IV family were explored by exome sequencing and PCR sequencing. Two null heterozygous variants in FLG coexisted in the pedigree, including c.7249C>T (Q2417X) and c.10225C>T (R3409X). The Q2417X variant was only found in the proband and their healthy mother, whereas the R3409X variant was observed in the other affected family members. The proband with Q2417X showed a much more severe phenotype than the patients with R3409X did, but their mother with Q2417X presented no clinic symptoms. The results strongly support that IV is a semidominant keratinising disorder that involved hereditary and environmental risk aspects and expanded the FLG variants spectrum in Asian populations.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46208980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Study on Thyroxine Preventing Coronary Atherosclerosis through TGFBR1 Signaling Pathway 甲状腺素通过TGFBR1信号通路预防冠状动脉粥样硬化的研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-10-03 DOI: 10.31901/24566330.2022/22.04.841
Xuan Zhang
{"title":"Study on Thyroxine Preventing Coronary Atherosclerosis through TGFBR1 Signaling Pathway","authors":"Xuan Zhang","doi":"10.31901/24566330.2022/22.04.841","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.841","url":null,"abstract":"To explore the mechanism of Thyroxine inhibiting Human Aortic Vascular Smooth Muscle Cell (HASMC) proliferation, migration and vascular intimal hyperplasia through the transforming growth factor b receptor 1(TGFBR1). 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)- 2H-tetrazolium (MTS), 5-ethynyl-2' -deoxyuridine (EdU) staining, Transwell, cell scratch test and Western bloting were performed sequentially to detect the effects of Thyroxine on HASMC and the TGFBR1 signaling pathway. A cell model of TGFBR1 overexpression was constructed to further explore the mechanism of TGFBR1 in Thyroxine inhibiting the activation of HASMC. Thyroxine can inhibit HASMC proliferation and migration, and the activation of TGFBR1 signaling pathway,both in a concentration-dependent manner. Following the overexpression of TGFBR1, the effect of Thyroxine on inhibiting HASMC proliferation, migration and activation of TGFBR1 signaling pathway was partially inhibited. Thyroxine can inhibit the proliferation, migration and vascular intimal hyperplasia of HASMC by inhibiting the activation of TGFBR1 signaling pathway, thereby playing a role in preventing and treating vascular restenosis and related diseases.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47688872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NTNG1 Modulates Progressions of Prostate Cancer Cells through JAK/STAT Signalling Pathway NTNG1通过JAK/STAT信号通路调控前列腺癌细胞的进展
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-28 DOI: 10.31901/24566330.2022/22.04.836
Yabin Xie
{"title":"NTNG1 Modulates Progressions of Prostate Cancer Cells through JAK/STAT Signalling Pathway","authors":"Yabin Xie","doi":"10.31901/24566330.2022/22.04.836","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.836","url":null,"abstract":"Netrin-G1 (NTNG1) is a glycosyl-phosphatidylinositol-affixed synaptic adhesion molecule that participates in carcinoma developments. However, its underlying mechanism in regulating prostate cancer (PCa) is uncertain. NTNG1 mRNA and protein expressions in prostate cancer tissue samples and cells were demonstrated to be promoted using RT-qPCR and western blot. Thereafter, using CCK-8, NTNG1 overexpression accelerated PCa cell viability while suppressed NTNG1 restrained cell viability. Additionally, transwell results indicated that migratory and invasive abilities of PCa cells were also facilitated by overexpressed NTNG1 but inhibited with NTNG1 suppression. Furthermore, using RT-qPCR, Janus kinase 1 (JAK1) has been detected to be upregulated by NTNG1 upregulation but suppressed with NTNG1 downregulation. Moreover, JAK1, JAK2, signal transducer and activator of transcription 3 (STAT3), Ki67 and E-cadherin protein expressions were also suppressed by the knockdown of NTNG1 but elevated with NTNG1 overexpression. In PCa cells, NTNG1 acted as an oncogene through activating JAK/STAT3 signalling pathway.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43235079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ATF1 Regulating Signaling Pathways between Nasopharyngeal Carcinoma Cells and Immortalized Epithelial Cells ATF1调节鼻咽癌细胞与永生上皮细胞之间的信号通路
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-03 DOI: 10.31901/24566330.2022/22.03.831
Guo-Liang Huang
{"title":"ATF1 Regulating Signaling Pathways between Nasopharyngeal Carcinoma Cells and Immortalized Epithelial Cells","authors":"Guo-Liang Huang","doi":"10.31901/24566330.2022/22.03.831","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.831","url":null,"abstract":"This study aims to provide a comprehensive pathway regulated by ATF1 and screen for differences between cancer and normal cells. Genome-wide mRNA expression microarrays were performed using RNA isolated from ATF1 over-expressing CNE1 and NP69 cells. The ATF1 regulating expression pattern and signaling was investigated by GO annotation, KEGG pathway and PPI network. A total of 1651 genes were found to be expressed differentially between CNE1-ATF1 and CNE1-control cells, 4304 genes were shown to be expressed differentially between NP69-ATF1 and NP69-control cells. In the GO annotation, KEGG analysis and PPI networks, pathways associated with cancer, apoptosis and cell proliferation exhibited the most significant correlation with ATF1 modulation in both cells. Different pathways were suggested as immune response in CNE1 cells and metabolism in NP69 cells. Taken together, the data of this study provide a comprehensive signaling pathway regulated by ATF1 and figure out the differences between cancer and normal cells.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42158390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of EGFR Mutations on NSCLC Patients Treated by Ramucirumab plus Docetaxel EGFR突变对Ramucirumab联合多西他赛治疗NSCLC患者的影响
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.813
Hua Gong
{"title":"Effects of EGFR Mutations on NSCLC Patients Treated by Ramucirumab plus Docetaxel","authors":"Hua Gong","doi":"10.31901/24566330.2022/22.03.813","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.813","url":null,"abstract":"The present paper attempted to define the effects of epidermal growth factor receptor (EGFR) mutations on patients with non-small cell lung cancer (NSCLC) treated by ramucirumab plus docetaxel. Of the 82 enrolled patients, 48 underwent EGFR mutations, showing relevance to sex and smoking history (P<0.05). The analysis yielded that EGFR-mutant (EGFR-Mut) group had a higher objective response rate versus EGFR-wild-type (EGFR-Wt) group (P<0.05). Subsequent to treatment, serum VEGF, bFGF, HDGF, CEA, CA153, CYFRA21-1 and CA199 levels dropped more significantly in EGFR-Mut group (P<0.05). Beyond that, EGFR-Mut exhibited a lower ZPS score and a higher KPS score versus EGFR-Wt group (P<0.05). Further, EGFR-Mut patients displayed strikingly longer median survival time versus EGFR-Wt patients (P<0.05). Ramucirumab plus docetaxel can safely inhibit tumour angiogenesis and regulate the levels of serum tumour markers. EGFR-Mut NSCLC patients with brain metastasis have better treatment outcomes and longer survival.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42527331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
mirna-27a Targets Sprouty Homolog 2 Expression to Affect Growth of Blood Vessels into Degenerated Intervertebral Disc mirna-27a以芽生同源物2表达为目标影响退变椎间盘血管的生长
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.804
Ping Wang
{"title":"mirna-27a Targets Sprouty Homolog 2 Expression to Affect Growth of Blood Vessels into Degenerated Intervertebral Disc","authors":"Ping Wang","doi":"10.31901/24566330.2022/22.03.804","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.804","url":null,"abstract":"This study aimed to evaluate the effects of miRNA-27a-targeting sprouty homolog 2 (SPRY2) on nucleus pulposus cell (NPC)-induced angiogenesis of human microvascular endothelial cells (HMEC-1) in degenerated intervertebral disc. Intervertebral disc tissues were collected from patients with scoliosis (control) and intervertebral disc degeneration (IDD). HMEC-1 cells were divided into control, negative control, sh-miR-27a, miR-27a, SPRY2 and miR-27a + SPRY2 groups. The invasive and angiogenic abilities of HMEC-1 cells were detected through Transwell and tube formation assays. TGF-â1 levels in NPCs and mixed medium were detected by enzyme-linked immunosorbent assay. MiR-27a expression in the intervertebral disc tissue of IDD group significantly exceeded that of the control group. In the SPRY2 group, the number of invading HMEC-1 cells decreased (P<0.05). Compared with the miR-27a group, the miR-27a + SPRY2 group had weakened invasive and angiogenic abilities, and decreased TGF-â1 expression (P<0.05). MiR-27a promotes NPC-induced angiogenesis of HMEC-1 cells through targeted inhibition of SPRY2 expression.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47023224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Omentin-1 Suppressed Inflammation by NLRP3 through AMPK Function Omentin-1通过AMPK功能抑制NLRP3的炎症
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.830
Yong Jiang
{"title":"Omentin-1 Suppressed Inflammation by NLRP3 through AMPK Function","authors":"Yong Jiang","doi":"10.31901/24566330.2022/22.03.830","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.830","url":null,"abstract":"This experiment investigated the biological roles of Omentin-1 in cerebral vessels of acute cerebral ischemia (ACI). The expressions of Omentin-1 in mouse model or patients with ACI were down-regulated. Moreover, Omentin-1 was negatively correlated with NIHSS score or serum IL-1β expression in patients undergoing intravenous thrombolysis for ACI. Omentin-1 was positively correlated with Barthel index in patients undergoing intravenous thrombolysis for ACI. In the mouse model or the in-vitro model, Omentin-1 mitigated inflammation factors. Additionally, in the in-vitro model of ACI, overexpression of Omentin-1 induced AMPK/ NLRP3 signaling pathway. Down-regulation of Omentin-1 also inhibited AMPK/ NLRP3 signaling pathway. Taken together, Omentin-1 suppressed ACI in the ACI model through inhibiting inflammation, which might serve as a potential treatment strategies of cardiovascular and cerebrovascular diseases in ACI.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47673819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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