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International Journal of Human Genetics最新文献

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Modification of Insulin-Like Growth Factor-1 Gene Induces Differentiation of Adipose-derived Stem Cells into Chondrocytes 胰岛素样生长因子-1基因修饰诱导脂肪干细胞向软骨细胞分化
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-10 DOI: 10.31901/24566330.2022/22.02.786
Xiao-ling Jiang
{"title":"Modification of Insulin-Like Growth Factor-1 Gene Induces Differentiation of Adipose-derived Stem Cells into Chondrocytes","authors":"Xiao-ling Jiang","doi":"10.31901/24566330.2022/22.02.786","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.786","url":null,"abstract":"The researchers aimed to assess the effects of modification by insulin-like growth factor-1 (IGF-1) gene on the differentiation of adipose-derived stem cells (ADSCs) into chondrocytes. Rat ADSCs were divided into normal, control and experiment groups. Experiment and control groups were transfected with pcDNA3.1-IGF-1 and pcDNA3.1- IGF-1-NC, respectively. Their osteogenic, adipogenic and chondrogenic differentiation capacities were determined using alizarin red staining, oil red O staining and toluidine blue staining, respectively. The expressions of type I collagen (ColI) and ColII were detected by immunofluorescence assay, and the protein expressions of ColI, ColII and IGF-1 were measured by Western blotting. Compared with the normal group, the experiment group had significantly enhanced osteogenic, adipogenic and chondrogenic differentiation capacities and increased protein expressions of ColI, ColII and IGF-1 (P<0.05), whereas normal and control groups had similar results (P>0.05). Modification by IGF-1 gene obviously contributes to the differentiation of rats ADSCs into chondrocytes.","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":"45839872","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
Plasma Haptoglobin and Group-specific Component Phenotypic Variants Increase the Risk of Chronic Kidney Disease 血浆珠蛋白和群体特异性成分表型变异增加慢性肾脏疾病的风险
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-10 DOI: 10.31901/24566330.2022/22.01.800
Pavani Sanapala
{"title":"Plasma Haptoglobin and Group-specific Component Phenotypic Variants Increase the Risk of Chronic Kidney Disease","authors":"Pavani Sanapala","doi":"10.31901/24566330.2022/22.01.800","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.01.800","url":null,"abstract":"ABSTRACT The researchers studied the correlation of Haptoglobin (HP) and Group-specific Component (GC) plasma protein biomarkers in chronic kidney disease (CKD) patients and non-CKD controls using discontinuous-polyacrylamide gel electrophoresis. The results showed a significant difference between the CKD and control clusters of 2-2 variants for HP (p=0.0036) and GC (p= 0.0033). The current research indicates 2-2 phenotype is an independent risk determinant for CKD, while risk analysis reports odds value >1 for both protein polymorphisms signifying an effective risk towards CKD. The multifactor dimensional reduction analysis also detailed HP and GC markers have a strengthening and stronger association and are causative for CKD development. Collectively, the findings signify a potential risk of plasma HP and GC polymorphisms being susceptible to CKD and their key role in the deterioration of kidney functions.","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":"49131181","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
Relationship between Cytochrome P450 2E1 Gene Polymorphism and Susceptibility of Low Birth Weight Infants 细胞色素P450 2E1基因多态性与低出生体重儿易感性的关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-02-10 DOI: 10.31901/24566330.2022/22.01.798
Xiaoyan Deng
{"title":"Relationship between Cytochrome P450 2E1 Gene Polymorphism and Susceptibility of Low Birth Weight Infants","authors":"Xiaoyan Deng","doi":"10.31901/24566330.2022/22.01.798","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.01.798","url":null,"abstract":"ABSTRACT The purpose of this study is to investigate the relationship between cytochrome P450 2E1 (CYP2E1) RsaI/PstI and DraI single gene polymorphism (SNP) and low birth weight infants (LBW) of Chinese population. The researchers detected CYP2E1 RsaI/PstI and DraI SNPs by real-time PCR cycling and HRM analysis in 461 premature delivery and 461 healthy pregnant women. This paper found that RsaI/PstI C2C2 was statistically significantly correlation with increased risk of LBW (Odds ratios= 0.66,95% CI: 0.44–0.98, P = 0.04) and (Odds ratios = 0.75 , 95% CI: 0.56–0.99, P=0.04) for C2C2, compared with C1C1 and C1C1 + C1C2, respectively. When CYP2E1 RsaI/PstI and DraI SNPs combine, the risk of low birth weight infants was increased in individuals with both DraI TT and RsaI/ PstI C2C2 genotypes (Odds ratios=0.59, 95% CI=0.36–0.97). The current study demonstrates CYP2E1 RsaI/PstI polymorphism is significantly related to LBW and the interaction between the RsaI/PstI and DraI polymorphisms has a significant impact on LBW.","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":"41857321","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
Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma 一个中国表皮松解性掌跖角化病家系KRT9移码突变的鉴定
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-11-25 DOI: 10.31901/24566330.2021/21.04.791
An-li Shu
{"title":"Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma","authors":"An-li Shu","doi":"10.31901/24566330.2021/21.04.791","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.04.791","url":null,"abstract":"Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis caused by variants of keratin 9 (KRT9) or KRT1 gene. In this study causative gene mapping in a Chinese EPPK family was performed with Two-point linkage analysis and haplotyping. Positive linkage results were obtained on 17q (Zmax=2.06, θmax=0.0) at D17S799, which indicated KRT9 to be the most responsible gene for the family. Subsequently, direct sequencing identified a novel frameshift mutation caused by a 5bp deletion (∆GGAGG) in KRT9 in all affected individuals but not in the unaffected members or the 50 unrelated controls. The frameshift changed the encoding of the following nine amino acids and resulted in a readthrough translation in exon 7. The data revealed that the novel frameshift mutation in KRT9 was responsible for the Chinese EPPK pedigree. The researchers’ findings broaden the spectrum of KRT9 variants and provide further evidence for the highly genetic heterogeneity of EPPK.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44196784","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 DANCR Restrains Sensitivity to 5-fluorouracil in Prostate Cancer through Sponging MiR-577 LncRNA DANCR通过赞助MiR-577抑制癌症前列腺对5-氟尿嘧啶的敏感性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-11-25 DOI: 10.31901/24566330.2021/21.04.794
Minghua Zhang
{"title":"LncRNA DANCR Restrains Sensitivity to 5-fluorouracil in Prostate Cancer through Sponging MiR-577","authors":"Minghua Zhang","doi":"10.31901/24566330.2021/21.04.794","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.04.794","url":null,"abstract":"ABSTRACT This present study explored the functions of lncRNA DANCR on regulating sensitivity to 5-fluorouracil (5- FU) in prostate cancer in vitro. The RT-qPCR examined RNA expressions of LNCRNA DANCR in RWPE-1, VCaP, PC3 and LNCaP cells, which also measured RNA levels of miR-577 in PC3 cells. DANCR was highly expressed in prostate cancer cell lines. 5-FU (0, 1, 5 and 10¼M) treatment induced the decrease of PC3 cell viability and low RNA expressions of DANCR but increased miR-577 in PC3 cells. The luciferase reporter test detected the binding between DNACR and miR- 577 . Interactions between DANCR and miR-577 were examined. Knockdown of DANCR downregulated DANCR and Bcl- 2 RNA expressions but accelerated cell viability and upregulated Bax, which were enhanced by the overexpression of miR- 577. Hence, DANCR might restrain sensitivity of prostate cancer cells to 5-FU by downregulating miR-577","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46329404","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-382-5p’s Function as a Suppressor in Osteosarcoma (OS) by Targeting PDPK1 MiR-382-5p靶向PDPK1在骨肉瘤(OS)中的抑制功能
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-11-25 DOI: 10.31901/24566330.2021/21.04.790
Ji-Luan Liu
{"title":"MiR-382-5p’s Function as a Suppressor in Osteosarcoma (OS) by Targeting PDPK1","authors":"Ji-Luan Liu","doi":"10.31901/24566330.2021/21.04.790","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.04.790","url":null,"abstract":"ABSTRACT miR-382-5p engages in development of osteosarcoma (OS). However, the regulatory system of miR-382-5p in osteosarcoma remains to be revealed. This research studied the interplay between PDPK1 and miR- 382-5p in OS. RT-PCR was used to evaluate miR-382-5p and PDPK1 expression in OS cells and normal human osteoblast cells. Dual-luciferase reporter assay validated PDPK1 as a miR-382-5p target. CCK-8 evaluated the cell viability. Flow cytometric method determined cell apoptosis rate. Transwell and Scratch assays estimated the cell metastasis. miR-382-5p was inhibited in OS cells. Further functional results showed miR-382-5p upregulation reduced cell viability, and mobility by mediating PDPK1 in OS cells","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44322205","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
Predicting the Role of SERPINA1 DNA Methylation in Chronic Obstructive Pulmonary Disease and Anaemia and Identification of 3 Novel Methylation Sites SERPINA1 DNA甲基化在慢性阻塞性肺病和贫血中的作用预测及3个新甲基化位点的鉴定
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-10-25 DOI: 10.31901/24566330.2021/21.04.793
A. Anand
{"title":"Predicting the Role of SERPINA1 DNA Methylation in Chronic Obstructive Pulmonary Disease and Anaemia and Identification of 3 Novel Methylation Sites","authors":"A. Anand","doi":"10.31901/24566330.2021/21.04.793","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.04.793","url":null,"abstract":"ABSTRACT Anaemia and chronic obstructive pulmonary disease (COPD) are the common blood and respiratory disorders respectively. The proper lung function is maintained by the SERPINA1 gene predominantly that encodes for alpha 1 antitrypsin protein, which also regulates the iron homeostasis of the human body, whereas imbalance in the iron homeostasis may result in the anaemic condition. The altitudinal variations influence anaemia and COPD. DNA methylation is involved in the early developmental processes, which influences the gene functioning without altering the sequence. The current study has been aimed at analyzing the inter-relationship between anaemia and COPD with DNA methylation of the SERPINA1 gene under altitudinal changes. The methodology involves the DNA isolation, bisulfite conversion and sequencing of the SERPINA1 gene. The results of the current study have shown that SERPINA1 DNA methylation did not significantly involve anaemia and COPD irrespective altitudes, but 3 novel CpG sites cg94377701, cg94389678 and cg94389930 were identified in the SERPINA1 gene of anaemia and COPD patients.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45378042","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
Down Syndrome Survey in South Indian Population- Understanding Inheritance, Perceptions, Interventions and Diagnosis 南印度人群唐氏综合症调查——了解遗传、认知、干预和诊断
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-09-25 DOI: 10.31901/24566330.2021/21.04.792
Disha Sawhney
{"title":"Down Syndrome Survey in South Indian Population- Understanding Inheritance, Perceptions, Interventions and Diagnosis","authors":"Disha Sawhney","doi":"10.31901/24566330.2021/21.04.792","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.04.792","url":null,"abstract":"ABSTRACT Down syndrome (DS) has been prevalent worldwide, for centuries now. Despite the fact that tremendous research has been done on DS ever since the early 1950s, most results obtained, are on the basis of etiological and demographic factors and predominantly of the western data. Every year in India, >30,000 children are born with DS. This survey has been done keeping the Indian population in mind and to analyze the outlook of parents having children with DS, understand the comorbidities and their management. The study was conceptualized to create an exhaustive and comprehensive questionnaire to study the pattern of inheritance of Trisomy 21, analyze influence and correlation of advanced maternal age, sex ratio, order of birth, hypothyroidism, common comorbidities, abortions, Attention deficit hyperactivity disorder (ADHD) and sleeping difficulties in individuals diagnosed with DS. 50 family triads were interviewed. The results showed that incidence of DS was more in males compared to females. The analysis revealed that mean maternal age of 25-28 years showed increased incidence of DS. 2.5 percent showed severe ID and 27.5 percent had severe ADHD symptoms, while 10-13 percent showed mild to moderate ADHD. The most and least prevalent comorbidity seen was the presence of heart disease (45%) and hearing impairment (10 percent) respectively. It was found that about 40 percent of parents strongly agreed to the idea that Genetic Counseling (GC) is helpful and wanted to reinforce it to others who find it difficult to cope up with their DS child.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43179552","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
Distribution of Selected Single Nucleotide Polymorphisms in the Brahmin, Rajput and Bania Populations of Jammu District of Jammu and Kashmir, North India 北印度查谟和克什米尔查谟地区Brahmin、Rajput和Bania人群中选定单核苷酸多态性的分布
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-08-08 DOI: 10.31901/24566330.2021/21.02.779
S. Chahal
{"title":"Distribution of Selected Single Nucleotide Polymorphisms in the Brahmin, Rajput and Bania Populations of Jammu District of Jammu and Kashmir, North India","authors":"S. Chahal","doi":"10.31901/24566330.2021/21.02.779","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.02.779","url":null,"abstract":"ABSTRACTA total of 461 randomly selected unrelated subjects belonging to three selected castes populations of Jammu district of Jammu and Kashmir (J&K) viz., the Brahmin, Rajput, and Bania were typed using standard PCRRFLP technique for a battery of five SNPs (Single Nucleotide Polymorphisms) namely NAT2, ADH2, PSCR, T2, and ALAD. The objective of the present study was to characterize these populations genetically and assess the degree of genetic differentiation and genetic affinities among them. The results revealed that the present caste populations were moderately differentiated (GST = 0.0105).The genetic distance analysis demonstrated that the Rajput and Bania were in close genetic affinities while the Brahmin population was somewhat distant. In conclusion, the present investigation documented the underlying genomic uniformity in the people of the Jammu district.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47077136","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-200a-3p Accelerated Hypoxia/Reoxygenation Injury in HCM Cells by Enhancing IGF2R via Wnt/β-catenin Signalling Pathway MiR-200a-3p通过Wnt/β-catenin信号通路增强IGF2R加速HCM细胞缺氧/再氧损伤
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-08-05 DOI: 10.31901/24566330.2021/21.02.783
Y. Ge
{"title":"MiR-200a-3p Accelerated Hypoxia/Reoxygenation Injury in HCM Cells by Enhancing IGF2R via Wnt/β-catenin Signalling Pathway","authors":"Y. Ge","doi":"10.31901/24566330.2021/21.02.783","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.02.783","url":null,"abstract":"ABSTRACT The present study examined functions of miR-200a-3p accelerated progressions of HCM cells via IGF2R and Wnt/β-catenin signalling pathway after hypoxia/reoxygenation treatment in vitro. CCK-8 showed that cell viability of HCM was inhibited while apoptosis rates detected by flow cytometry were promoted in a time dependent manner after H/R (12 hours and 24 hours). Beyond that, Bcl-2 and c-IAP1 were decreased but Bax and caspase-3 were upregulated by H/R treatment. IL-1β, IL-6, TNF-α and NLRP3 were also increased after treatment. RT-qPCR showed increased expressions of miR-200a-3p by H/R treatment while its inhibitor elevated cell viability but depressed apoptosis rate and pro-inflammatory cytokines’ expressions. IGF2R was upregulated after H/R treatment and its downregulation magnified effects of suppressed miR-200a-3p. HIF-1α/Wnt/β -catenin signalling pathway was activated by miR-200a-3p and IGF2R while IWP-2 treatment abolished the activation of Wnt3a andβ -catenin, causing decreased apoptosis and pro-inflammatory cytokines’ expressions but accelerated the cell viability.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49279494","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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