发布求助
文献互助 智能选刊 最新文献

International Journal of Human Genetics最新文献

筛选
英文 中文
Cellular Heterogeneity of Lung Adenocarcinoma is Correlated with EGFR Inhibitor Resistance 肺腺癌的细胞异质性与表皮生长因子受体抑制剂的耐药性有关
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-11-02 DOI: 10.31901/24566330.2023/23.04.879
Ying Huang
{"title":"Cellular Heterogeneity of Lung Adenocarcinoma is Correlated with EGFR Inhibitor Resistance","authors":"Ying Huang","doi":"10.31901/24566330.2023/23.04.879","DOIUrl":"https://doi.org/10.31901/24566330.2023/23.04.879","url":null,"abstract":"Although EGFR inhibitors have high curative effect on lung adenocarcinoma, EGFR inhibitor resistance is still a difficult problem that must be overcome at present. By integrating bulk RNA-seq data from EGFR inhibitorsensitive and resistant lung adenocarcinoma cell lines, the researchers identified key genes associated with EGFR inhibitor resistance. By integrating single-cell RNA-seq data from 12 clinical lung adenocarcinoma samples, 22 subpopulations of lung adenocarcinoma cells were identified. This study not only confirmed that the cellular heterogeneity of lung adenocarcinoma is associated with EGFR inhibitor resistance, but also cell subpopulations with EGFR inhibitor resistance properties, such as cluster6, may be closely related to tumor malignancy, suggesting that the study focusing on EGFR inhibitor resistant subpopulations will help to find suitable strategies to overcome EGFR inhibitor resistance.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139290851","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
Genetic Underpinnings of Adolescent Idiopathic Scoliosis: A Review 青少年特发性脊柱侧凸的遗传基础：综述
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-11-02 DOI: 10.31901/24566330.2024/24.01.880
Ekta Rai
{"title":"Genetic Underpinnings of Adolescent Idiopathic Scoliosis: A Review","authors":"Ekta Rai","doi":"10.31901/24566330.2024/24.01.880","DOIUrl":"https://doi.org/10.31901/24566330.2024/24.01.880","url":null,"abstract":"Adolescent Idiopathic Scoliosis (AIS) is a three-dimensional spine deformity with lateral curvature having a Cobb angle exceeding 10° in the individual. It affects about 1-4 percent of adolescents globally and more frequently occurs in females than males. Despite the extensive research carried out on AIS, its aetiology is not known yet. However, several genetic studies suggest the contribution of various genetic variants in the possible aetiology of AIS. This review summarises the genetic association studies, including linkage, candidate as well as genome-wide association studies that were carried out globally on AIS and also categorised the associated genes in different biological pathways such as neurodevelopmental, hormone-related, cartilage and bone development pathways, based on their potential functional roles in the respective pathway, to understand the pathology of the disorder.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139291012","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
Calculating the Delta Entropy of Differentiation Module in Different Paediatric Sepsis via Analysis of Gene Network 通过基因网络分析计算不同儿科败血症分化模块的德尔塔熵
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-11-02 DOI: 10.31901/24566330.2024/24.01.823
Dan Yu
{"title":"Calculating the Delta Entropy of Differentiation Module in Different Paediatric Sepsis via Analysis of Gene Network","authors":"Dan Yu","doi":"10.31901/24566330.2024/24.01.823","DOIUrl":"https://doi.org/10.31901/24566330.2024/24.01.823","url":null,"abstract":"Paediatric sepsis refers to the body reaction disorder caused by the infection of blood by pathogens. In this study, the researchers aimed to differentiate the 5 types of paediatric sepsis by integrating the mRNA data and PINs analysis. Twenty-three SIRS, 24 uncomplicated sepsis, 21 severe sepsis, 33 septic shock and 28 sepsis deaths were enrolled. The potential genes related to paediatric sepsis were explored. The researchers found that the nodes of SIRS modules were 8, 7 and 4 with corresponding edges of 28, 21 and 6. The nodes of uncomplicated sepsis were 6, 3 and 5, with corresponding edges of 15, 3 and 10. The nodes of severe sepsis module and corresponding edges respectively were 3 and 3. One differentiation module of sepsis death contained 4 nodes and 6 edges. In conclusion, the genes that participate in the ribosome and cell cycle pathways probably play important roles in the development of paediatric sepsis.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139290487","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
Participation of MiR-145-5p in Neuronal Ischemia/Reperfusion Injury by Targeting Fibroblast Growth Factor-5 MiR-145-5p靶向成纤维细胞生长因子-5参与神经元缺血再灌注损伤
4区 生物学
International Journal of Human Genetics Pub Date : 2023-10-17 DOI: 10.31901/24566330.2024/24.01.809
Lei Xu
{"title":"Participation of MiR-145-5p in Neuronal Ischemia/Reperfusion Injury by Targeting Fibroblast Growth Factor-5","authors":"Lei Xu","doi":"10.31901/24566330.2024/24.01.809","DOIUrl":"https://doi.org/10.31901/24566330.2024/24.01.809","url":null,"abstract":"The researchers made efforts in elucidating the mechanism for miR-145-5p participating in neuronal ischemia/reperfusion injury (I/R) via targeting fibroblast growth factor-5 (FGF5). OGD/R was performed to construct the neuronal injury model. After OGD/R, the oxidative stress injury of nerve cells was enhanced significantly, the levels of lactic dehydrogenase, reactive oxygen species and malondialdehyde rose, while the superoxide dismutase activity decreased. Both miR-145-5p and cell apoptosis rate increased. MiR-145-5p had a targeting relation to FGF5. After miR- 145-5p inhibitor transfection of nerve cells, inhibition of oxidative stress together with apoptosis was observed. FGF5 siRNA could reverse the impact on oxidative stress, FGF5, and apoptosis exerted by miR-145-5p-inhibitor in the OGD/ R model. Being a latent target of I/R treatment, miR-145-5p induces the oxidative stress injury as well as apoptosis of HT22 cells by targeting and binding FGF5.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135993235","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
Roles of LCN2, PDIA3 and HGF in Progression and Remission of Non-small Cell Lung Cancer LCN2、PDIA3和HGF在非小细胞肺癌进展和缓解中的作用
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-01-15 DOI: 10.31901/24566330.2023/23.01.843
Jing Zhang
{"title":"Roles of LCN2, PDIA3 and HGF in Progression and Remission of Non-small Cell Lung Cancer","authors":"Jing Zhang","doi":"10.31901/24566330.2023/23.01.843","DOIUrl":"https://doi.org/10.31901/24566330.2023/23.01.843","url":null,"abstract":"The research aimed to investigate the expressions of lipid-carrying protein 2 (LCN2), protein disulfideisomerase A3 (PDIA3) and hepatocyte growth factor (HGF) during the progression of non-small cell lung cancer (NSCLC), and their predictive values for disease remission. A total of 120 NSCLC patients admitted from January 2021 to January 2022 were enrolled. The patients with complete remission and partial remission were assigned into the remission group, while those with stable disease and progressive disease were assigned into the non-remission group. LCN2, PDIA3 and HGF had higher positive expression rates in the case of tumour diameter more than or equal to 3 cm, TNM stage 3/4, moderate and low differentiation, lymph node metastasis and deep invasion (P<0.05). The predictive efficiency of combination of LCN2, PDIA3 and HGF for disease remission was highest. There were positive correlations among LCN2, PDIA3 and HGF (P<0.05). LCN2, PDIA3 and HGF are highly expressed in NSCLC, and their expressions are elevated with disease progression.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46234155","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
Expressions of miR-132, miR-145 and miR-208 in Patients with Acute Myocardial Infarction and Correlations with Gensini Score 急性心肌梗死患者miR-132、miR-145、miR-208的表达及其与Gensini评分的相关性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-01-15 DOI: 10.31901/24566330.2023/23.01.846
Ling Lin
{"title":"Expressions of miR-132, miR-145 and miR-208 in Patients with Acute Myocardial Infarction and Correlations with Gensini Score","authors":"Ling Lin","doi":"10.31901/24566330.2023/23.01.846","DOIUrl":"https://doi.org/10.31901/24566330.2023/23.01.846","url":null,"abstract":"The researchers aimed to investigate the correlations of miR-132, miR-145 and miR-208 with the Gensini score (GS) of patients with acute myocardial infarction (AMI). Totally 120 AMI patients and 80 healthy volunteers undergoing physical examination were included into AMI group and healthy group, respectively. The AMI patients were subdivided into low GS (LGS) group (< 30 points) and high GS (HGS) group (>30 points). Independent risk factors included troponin I (TnI), creatine kinase (CK) isoenzyme, uric acid (UA), C-reactive protein (CRP), miR-132, miR-145 and miR208, which affected the severity of coronary artery lesions (CALs) (P<0.05). Compared with miR-132, miR-145, and miR208 alone, their combination had the highest diagnostic value, with the area under curve (95%CI) of 0.911 (0.869-0.978), sensitivity of 89.89 percent and specificity of 70.91 percent (P<0.001). MiR-132, miR-145, and miR-208 are abnormally expressed in AMI patients. Their combination has higher diagnostic value for the severity of CALs in AMI patients.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42243189","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 Casein Kinase 2 Alpha Subunit on the Proliferation, Invasion and Migration of Pancreatic Cancer PANC-1 Cells via the PI3K/Akt/GSK-3β Pathway 酪蛋白激酶2 α亚基通过PI3K/Akt/GSK-3β通路对胰腺癌PANC-1细胞增殖、侵袭和迁移的影响
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-01-15 DOI: 10.31901/24566330.2023/23.01.844
Qiwei Hao
{"title":"Effects of Casein Kinase 2 Alpha Subunit on the Proliferation, Invasion and Migration of Pancreatic Cancer PANC-1 Cells via the PI3K/Akt/GSK-3β Pathway","authors":"Qiwei Hao","doi":"10.31901/24566330.2023/23.01.844","DOIUrl":"https://doi.org/10.31901/24566330.2023/23.01.844","url":null,"abstract":"The researchers aimed to evaluate the functions of casein kinase 2 alpha subunit (CK2a) expression silencing in influencing pancreatic cancer (PC) PANC-1 cells from the aspects of invasion, proliferation and migration. As PC-1, PC PANC-1 and SW1990 cells exhibited significantly reduced CK2a mRNA expression level in contrast to normal pancreatic cells HPDE6-C7, while PC tissues displayed raised expression level compared with adjacent tissues (P<0.05). CK2a mRNA expression had significant correlations with nerve infiltration, lymph node metastasis, tumor differentiation degree and tumor-node-metastasis stage. After interfering with the expression of CK2a in PANC-1 cells, p-PTEN had elevated expression, while p-Akt473, p-GSK-3β, p-c-Raf, p-Akt308, p-PDK1, Snail and Vimentin, βcatenin had significantly down-regulated expressions, impeding cell growth, decreasing the number of healing wounds and invading cells. Moreover, the transplanted tumors were inhibited in terms of growth. For PC PANC-1 cells, their metastasis, proliferation and invasion were modulated by CK2a probably through regulating the PI3K/Akt/GSK-3β pathway that targeted epithelial-mesenchymal transition.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43744001","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
Assessment of Association of ITLN1 SNPs rs2274907A>T and rs2274908 G>A with Coronary Artery Disease in People from Punjab 旁遮普人ITLN1 SNPs rs2274907A>T和rs2274908G>A与冠心病相关性的评估
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2023-01-15 DOI: 10.31901/24566330.2023/23.01.861
N. Kaur
{"title":"Assessment of Association of ITLN1 SNPs rs2274907A>T and rs2274908 G>A with Coronary Artery Disease in People from Punjab","authors":"N. Kaur","doi":"10.31901/24566330.2023/23.01.861","DOIUrl":"https://doi.org/10.31901/24566330.2023/23.01.861","url":null,"abstract":"The objectives of the present study were to determine the genotype and allele frequency distributions of rs2274907 and rs2274908 SNPs of the ITLN1 gene in CAD cases (n=206) and controls (n=206) inhabiting the state of Punjab in northwest India and to seek association, if any, of these SNPs with CAD. Age, lifestyle patterns, dietary habits and various biochemical traits (CHOL, TG, HDL, LDL and VLDL) were examined for possible association with the studied SNP genotypes in CAD cases. Statistically significant differences were found between CAD cases and controls in physical activity (OR=0.27, p<0.0001), alcohol intake (OR=0.67, p=0.04), smoking (OR=1.93, p=0.001), diet type (OR=1.76, p=0.011) and fruit intake (OR=2.62, p<0.0001). All biochemical trait differences were also found to be highly statistically significant (p<0.0001). The present case-control study revealed that both the SNPs at ITLN1 locus were statistically significantly associated with the occurrence of CAD in the people of Punjab.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47810593","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
Laccase Domain-Containing Protein 1 Promoted Inflammation of Osteoporosis Model via NOD2 Ubiquitination by RIP2 漆酶结构域蛋白1通过RIP2介导NOD2泛素化促进骨质疏松模型炎症反应
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-12-15 DOI: 10.31901/24566330.2022/22.04.834
Jun Zhang
{"title":"Laccase Domain-Containing Protein 1 Promoted Inflammation of Osteoporosis Model via NOD2 Ubiquitination by RIP2","authors":"Jun Zhang","doi":"10.31901/24566330.2022/22.04.834","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.834","url":null,"abstract":"The purpose of this experiment was to elucidate the latent influence of Laccase Domain-Containing Protein 1 (LACC1) regulatory loop in the progression of osteoporosis. Serum samples of volunteers were obtained from the researchers’ hospital. Mice were induced by an osteoporosis model using ovariectomy. LACC1 mRNA expression levels were up-regulated in patients with osteoporosis. LACC1 protein and mRNA expression levels in mice with osteoporosis were measured. LACC1 promoted inflammation of osteoporosis in the in vitro model. LACC1 promoted osteoporosis in the mice model. LACC1 protein interlinked nucleotide-binding oligomerisation domain 2 (NOD2)/ receptor interacting protein 2 (RIP2) protein to reduce ubiquitination of NOD2. NOD2/RIP2 participated in the effects of LACC1 in the model of osteoporosis. These findings suggest that LACC1 promoted inflammation of the osteoporosis model via the induction of NOD2-RIP2 signalling by the inhibition of NOD2 ubiquitination. The inhibition of LACC1 regulatory loop provides new targets for treatment of osteoporosis.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48385046","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 : 2022-12-15 DOI: 10.31901/24566330.2022/22.04.831
Fangfang Wang
{"title":"ATF1 Regulating Signaling Pathways between Nasopharyngeal Carcinoma Cells and Immortalized Epithelial Cells","authors":"Fangfang Wang","doi":"10.31901/24566330.2022/22.04.831","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.04.831","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 provides 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":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49014203","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
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信