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International Journal of Human Genetics最新文献

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Study on Esmolol Treating Septic Cardiomyopathy by Regulating NLRP3 Inflammasome 艾司洛尔通过调节NLRP3炎症小体治疗脓毒性心肌病的研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.02.805
Yongxia Li
{"title":"Study on Esmolol Treating Septic Cardiomyopathy by Regulating NLRP3 Inflammasome","authors":"Yongxia Li","doi":"10.31901/24566330.2022/22.02.805","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.805","url":null,"abstract":"To expound the mechanism of esmolol in the treatment of septic cardiomyopathy, flow cytometry was used to observe changes in the levels of Treg cells. Ultrasound detection was performed to extract cardiac function in each group of sepsis rats. ELISA was applied to detect myocardial injury markers and inflammatory factors. Pathological detection of myocardial damage was performed, and the heart tissue protein was extracted. Western Blot was employed to detect the expression levels of NLRP3, ASC, casepase-1 and other antibodies in myocardial tissue. Esmolol can significantly improve the cardiac function of rats with septic cardiomyopathy. The experimental results suggested that its therapeutic effect is through regulating the balances between the level of Treg cells and the level of anti-inflammatory factors, as well as the expression level of NLRP3 inflammasomerelated protein and its pro-inflammatory factors.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46444243","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
Long Noncoding RNA FENDRR Facilitates Progressions of Hemangioma Endothelial Cells via Sponging MicroRNA-424 长非编码RNA FENDRR通过自发MicroRNA-424促进血管瘤内皮细胞的发展
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.02.801
Qiang Liu
{"title":"Long Noncoding RNA FENDRR Facilitates Progressions of Hemangioma Endothelial Cells via Sponging MicroRNA-424","authors":"Qiang Liu","doi":"10.31901/24566330.2022/22.02.801","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.801","url":null,"abstract":"The present study investigated effects of FENDRR and miR-424 on modulating HemECs progressions. Using RT-qPCR, FENDRR was detected to be upregulated in HemECs. The knockdown of FENDRR inhibited HemECs viability, migratory and invasive abilities but accelerated the cell apoptosis. Additionally, MMP-9 and VEGFA were also suppressed. Luciferase reporter test then verified that miR-424 in HemECs was sponged by FENDRR and downregulated in HemECs. Furthermore, overexpressed FENDRR restrained miR-424 mimics-induced high miR-424 expression. Beyond that, suppressed HemECs viability, invasiveness and migratory ability and increased apoptosis caused by miR424 mimics were also reversed by FENDRR overexpression. Moreover, miR-424-induced low MMP-9 and VEGFA were restored by overexpressed FENDRR.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43016735","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
Expression of Mutant Ectodysplasin- A Gene in Hypohidrotic Ectodermal Dysplasia 突变型表皮发育不良蛋白-A基因在少汗性表皮发育不良中的表达
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.03.814
F. He
{"title":"Expression of Mutant Ectodysplasin- A Gene in Hypohidrotic Ectodermal Dysplasia","authors":"F. He","doi":"10.31901/24566330.2022/22.03.814","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.814","url":null,"abstract":"To investigate the protein expression changes of c.878T>G mutant and wild-type Ectodysplasin-A (EDA) gene on prokaryotic vectors from hypohidrotic ectodermal dysplasia (HED) families. The c.878T>G mutant and wild-type EDA genes were amplified, screened, and double-enzyme digested to obtain the target fragments. The recombinant plasmids were constructed and introduced into Escherichia coli. Lactosidase (IPTG) induces the expression of the target gene. The EDA protein expression content was determined by Western blot and enzyme-linked immunosorbent method. On the prokaryotic expression vector, the c.878T>G mutant and wild-type EDA protein expression increased with the increase of induction time, and the mutant protein expression was lower than the wild-type protein expression at the same point (P<0.05). In conclusion, the c.878T>G gene mutation in this family caused one amino acid of the EDA protein to become another amino acid, and the c.878T>G mutation site can lead to a significant decrease in the expression of EDA protein on the prokaryotic expression vector, is highly pathogenic and may be the cause of the HED family.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41993768","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
Associations of OPRM1 A118G Gene Polymorphism with Pain Sensitivity and Opioid Dosage of Patients with Postherpetic Neuralgia OPRM1 A118G基因多态性与疱疹后神经痛患者疼痛敏感性和阿片类药物剂量的关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-10 DOI: 10.31901/24566330.2022/22.02.796
Qiang Fu
{"title":"Associations of OPRM1 A118G Gene Polymorphism with Pain Sensitivity and Opioid Dosage of Patients with Postherpetic Neuralgia","authors":"Qiang Fu","doi":"10.31901/24566330.2022/22.02.796","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.796","url":null,"abstract":"This study aimed to explore the associations of OPRM1 A118G gene polymorphism with pain sensitivity and opioid dosage of patients with postherpetic neuralgia (PHN). According to the 3-month follow-up results, 103 PNH patients were enrolled as a PHN group, and 112 without PHN after herpes zoster were included as a non-PHN group. The factors affecting PHN occurrence were subjected to one-way analysis of variance and multivariate logistic regression analysis. The frequency distribution of GG, AG and AA genotypes in both PHN and non-PHN groups conformed to the Hardy-Weinberg equilibrium law (P>0.05). Initial treatment duration of more than 72 hours, severe acute pain and genotype GG were independent risk factors for PHN. Genotype GG exhibited significantly increased distribution frequency in mild, moderate and severe PHN groups. The 48-hour opioid dosage was highest in the patients with genotype GG (P<0.05). OPRM1 A118G gene polymorphism causes individual differences in the pharmacodynamics of opioids in PHN patients.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48263763","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
HLA Polymorphism in Punjabi Population of Pakistan 巴基斯坦旁遮普人群HLA多态性研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-15 DOI: 10.31901/24566330.2022/22.01.797
M. Idrees
{"title":"HLA Polymorphism in Punjabi Population of Pakistan","authors":"M. Idrees","doi":"10.31901/24566330.2022/22.01.797","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.01.797","url":null,"abstract":"ABSTRACT High polymorphism of the human leukocyte antigen (HLA) alleles is frequently used to determine the origin and migration of human population. Furthermore, HLA-A, -B and -DR alleles specific frequencies are important to distingush the genetic structure between related enthic groups and is helpful in hematopoietic stem cell, organ transplantation and disease association. The data on HLA-A, B and DRBI* loci at a high-resolution level is limited in Punjab Population, Pakistan, therefore, the present research was designed to explore the genetic profile of patients collected from Punjab, Pakistan using HLA-A, HLA-B and HLA-DRBI* genotypes with sequence specific primers. The allelic frequencies, haplotype distribution and genetic distances were investigated to map a genetic relationship. The most common alleles and haplotypes originating in Punjabi population were HLA-02, HLA-B*40, HLA-DRB1*15, A*2602-B*08-DRB*03, and A*02-B*51-DRB1*13. The bootstrap stats was applied with the phylogenetic analysis suggesting a strong evolutionary relationship with 80 percent validation. This shows that Punjabis have heredity with Sindhis as their personal predecessor. Altogether, these findings would be helpful in the selection of transplantation procedure, planning donor registry and for anthropologic studies.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48340722","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
MiR-155 Promotes Proliferation and Epithelial-mesenchymal Transition (EMT) and Inhibits Apoptosis of Cervical Cancer Cells via Regulating ING4 MiR-155通过调节ING4促进宫颈癌症细胞增殖和上皮-间质转化（EMT）并抑制细胞凋亡
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-15 DOI: 10.31901/24566330.2022/22.01.776
M. Du
{"title":"MiR-155 Promotes Proliferation and Epithelial-mesenchymal Transition (EMT) and Inhibits Apoptosis of Cervical Cancer Cells via Regulating ING4","authors":"M. Du","doi":"10.31901/24566330.2022/22.01.776","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.01.776","url":null,"abstract":"ABSTRACT Cervical cancer, the fourth common gynecologic malignancy, causes huge menace to female health. This work studied the role of miR-155 and ING4 in changes in proliferation, and apoptosis in epithelial–mesenchymal transition (EMT) of cervical cancer cells. RNA levels of miR-155 and ING4 were assessed with RT-qPCR. MiR-155 inhibition and ING4 overexpression were achieved through transfection methods, whose expressions were evaluated by RT-qPCR. CCK-8 and flow cytometry measured cell viabilities and apoptosis, respectively. RT-qPCR was also implemented for examining expressions of E-cadherin, Snail and N-cadherin. MiR-155 was highly expressed in cervical cancer cells while its suppression retarded cell viabilities and EMT but enhanced the apoptosis. In contrast, ING4 expressions were significantly decreased in cervical cancer cells. Overexpression of ING4 blocked cell viabilities and EMT but promoted apoptosis. Moreover, overexpressed ING4 sharply inhibited cell viabilities and EMT and enhanced apoptosis. MiR-155 might accelerate proliferation, EMT and suppress apoptosis in cervical cancer cells in vitro while ING4 played an antipodal role. Further studies are needed for gaining comprehensive knowledge of miR-155 and ING4 in the future.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49548960","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
Clinical Implications of Bone Metabolic Markers in Patients with Type 2 Diabetes Mellitus 2型糖尿病患者骨代谢标志物的临床意义
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-15 DOI: 10.31901/24566330.2022/22.02.799
Yujie Wu
{"title":"Clinical Implications of Bone Metabolic Markers in Patients with Type 2 Diabetes Mellitus","authors":"Yujie Wu","doi":"10.31901/24566330.2022/22.02.799","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.799","url":null,"abstract":"This paper compared the changes of bone metabolic markers (BTM) in patients with Type 2 Diabetes Mellitus (T2DM) with or without diabetic kidney disease (DKD). 204 T2DM patients were divided into 4 groups, such that group 1 had no albuminuria, group 2 had microalbuminuria, group 3 with macroalbuminuria, and group 4 with DKD according to urine albumin and albumin to creatinine ratio (ACR) and levels of serum creatinine (SCR). The ACR, SCR, uric acid (UA), osteocalcin (OC), procollagen type I N-terminal propeptide (PINP), C-terminal telopeptide of type I collagen (CTX) and bone mineral density of the lumbar vertebrae 1-4 (BMDLV) in DKD were considerably higher than those who were non-DKD (P<0.05). When there is no DKD in diabetes, ACR detection is the most sensitive and specific. When it comes to DKD, the SCR is the most sensitive, and PINP specificity is greater than CTX, but the sensitivity is lower. DKD is a major contributor to osteoporosis risk.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43294684","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 Between High-mobility Group Box 1 and Th1/Th2 Cytokines in Peripheral Blood of Patients with Unexplained Recurrent Spontaneous Abortion 原因不明复发性自然流产患者外周血高迁移率组盒1与Th1/Th2细胞因子的相关性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-15 DOI: 10.31901/24566330.2022/22.02.795
D. Fu
{"title":"Correlations Between High-mobility Group Box 1 and Th1/Th2 Cytokines in Peripheral Blood of Patients with Unexplained Recurrent Spontaneous Abortion","authors":"D. Fu","doi":"10.31901/24566330.2022/22.02.795","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.795","url":null,"abstract":"The researchers aimed to explore the correlations between high-mobility group box 1 (HMGB1) and T helper cell (Th1/Th2) cytokines in the peripheral blood of patients with unexplained recurrent spontaneous abortion (URSA). After treatment, IL-2, IFN-ã and HMGB1 expressions significantly declined, while IL-4 and IL-10 expressions rose in URSA group (P<0.05). HMGB1, IL-2 and IFN-ã expressions were significantly lower and IL-4 and IL-10 expressions were higher in the successful pregnancy group than those in the failed pregnancy group (P<0.05). HMGB1 was positively correlated with IL-2 and IFN-ã, while negatively correlated with IL-4 and IL-10 (P<0.01). Th1 cell percentage and Th1/Th2 ratio were significantly higher and Th2 cell percentage was lower at 12 and 24 hours, than those under stimulation with HMGB1 at 0 hours (P<0.05). URSA is associated with the shift of Th1/Th2 balance toward Th1. HMGB1 may regulate the balance of Th1/Th2 immune response, as a potential target for treating URSA.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43554441","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
LncRNA HOTAIR/MiR-217/GPD2 Axis Medicates Hypoxia Injury of Myocardial Cells LncRNA-HOTAIR/MiR-217/GPD2轴治疗心肌细胞缺氧损伤
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-12 DOI: 10.31901/24566330.2022/22.02.808
L. Dai
{"title":"LncRNA HOTAIR/MiR-217/GPD2 Axis Medicates Hypoxia Injury of Myocardial Cells","authors":"L. Dai","doi":"10.31901/24566330.2022/22.02.808","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.808","url":null,"abstract":"This study examined impacts of lncRNA HOX Transcript Antisense RNA (HOTAIR), miR-217 and Glycerol-3-phosphate dehydrogenase 2 (GPD2) on progressions of cardiomyocytes after hypoxia damage. Hypoxia treatment induced low cell viability and increased apoptosis. RT-qPCR evaluated suppressed expressions of lncRNA HOTAIR. Overexpressed lncRNA HOTAIR accelerated AC16 cell viability but restrained cell apoptosis and proinflammatory protein expressions while the knockdown of HOTAIR caused opposite results. MiR-217 then was examined to be inhibited by HOTAIR overexpression, whose upregulation reduced AC16 cell viability but facilitated apoptosis and pro-inflammatory protein expressions. Luciferase reporter test then verified that GPD2 was bound and decreased by miR-217, which promoted AC16 cell viability but hampered cell apoptosis and pro-inflammatory protein expressions after overexpression. Moreover, PI3K/AKT signaling pathway was activated by overexpression of GPD2","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46442154","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
miR-625-3p Regulates Transcription Factor 21 (TCF21) Expression to Enhance Radio-resistance of Hepatoma Cells miR-625-3p调节转录因子21 (TCF21)表达增强肝癌细胞放射抵抗
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-10 DOI: 10.31901/24566330.2022/22.01.785
Jiongbo Lou
{"title":"miR-625-3p Regulates Transcription Factor 21 (TCF21) Expression to Enhance Radio-resistance of Hepatoma Cells","authors":"Jiongbo Lou","doi":"10.31901/24566330.2022/22.01.785","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.01.785","url":null,"abstract":"ABSTRACT miR-625-3p regulates cell functions in various cancers. However, its role in radio-resistance in hepatoma remains to be unveiled. This study aims at investigating the functions of miR-625-3p in hepatoma. RTPCR detected miR-625-3p/TCF21 expression in hepatoma tissues and cell line. MTT assays were conducted to analyze the miR-625-3p role in regulations of radio-resistance of hepatoma cells. Overall survival was evaluated in correlation to miR-625-3p among patients. Luciferase reporter experiments validated the predicted TCF21 as miR-625-3p target. Higher miR-625-3p expression was discovered in hepatoma patients. In tissues of radio resistant patients, miR-625-3p was higher. The overexpression of miR-625-3p increased the radio-resistance of hepatoma cells to irradiation. miR-625-3p adversely moderated TCF21 via binding to the 3’UTR of TCF21. Downregulating miR-625-3p promoted the cell sensitivity to irradiation, which was reversed by TCF21 inhibition.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44246866","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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