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International Journal of Human Genetics最新文献

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Genetic Characterisation of Pantothenate Kinase Associated Neurodegeneration (PKAN) in a Consanguineous Family from Jammu and Kashmir India 印度查谟和克什米尔一个近亲家族泛酸激酶相关神经变性(PKAN)的遗传特征
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.828
Swarkar Sharma
{"title":"Genetic Characterisation of Pantothenate Kinase Associated Neurodegeneration (PKAN) in a Consanguineous Family from Jammu and Kashmir India","authors":"Swarkar Sharma","doi":"10.31901/24566330.2022/22.03.828","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.828","url":null,"abstract":"Pantothenate kinase-associated neurodegeneration (PKAN), a rare neurological disorder occurs by variation(s) in the PANK2 (Pantothenate kinase 2) gene and is linked to iron accumulation in the basal ganglia. The researchers have carried out targeted gene sequencing of all exons of PANK2 in a patient with suspected phenotype of PKAN. A missense variant in exon 6 of PANK2 gene (NM_153638.3:c.1583C>T,NP_705902.2:p.Thr528Met) has been identified in the patient. Further, sequencing of the exon in extended consanguineous family showed autosomal recessive mode of inheritance in the family. It is emphasised that inclusion of molecular diagnostics in clinical evaluation procedures of potential genetic or uncharacterised abnormalities is critical especially if the family has known history of high consanguinity. It is anticipated to provide effectively, such families with access to a variety of genetic counselling programmes, thus reducing illness burden in the affected family.","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":"41987220","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 Long Non-coding Ribonucleic Acid X Inactive Specific Transcript/microRNA-29a/phosphatase and Tensin Homolog Deleted on Chromosome Ten Pathway in Osteogenic Differentiation of Bone Marrow Mesenchymal Stem Cells and Postmenopausal Osteoporosis 长非编码核糖核酸X无活性特异性转录物/microRNA-29a/磷酸酶和10号染色体通路上张力素同源物缺失在骨髓间充质干细胞成骨分化和绝经后骨质疏松中的作用
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.803
Jian Liu
{"title":"Roles of Long Non-coding Ribonucleic Acid X Inactive Specific Transcript/microRNA-29a/phosphatase and Tensin Homolog Deleted on Chromosome Ten Pathway in Osteogenic Differentiation of Bone Marrow Mesenchymal Stem Cells and Postmenopausal Osteoporosis","authors":"Jian Liu","doi":"10.31901/24566330.2022/22.03.803","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.803","url":null,"abstract":"The researchers aimed to inquire into the roles of long non-coding ribonucleic acid X inactive specific transcript/microRNA-29a/phosphatase and tensin homolog deleted on chromosome ten (lncRNA-XIST/miR-29a/ PTEN) pathway in the osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) and postmenopausal osteoporosis (PMOP). In the miR-29a + Lenti-NC group, ALP activity, concentration of alizarin red, and mRNA and protein expressions of Runx2, OPN and OCN significantly increased, whereas the mRNA and protein expressions of LPL, AP-2 and leptin decreased (P<0.05). In contrast with the miR-29a + Lenti-NC group, miR-29a + Lenti-XIST and miR-29a + Lenti-PTEN groups had decreased ALP activity, concentration of alizarin red, and mRNA and protein expressions of Runx2, OPN and OCN, but increased mRNA and protein expressions of LPL, AP-2 and leptin (P<0.05). BMSCs have incremental expressions of lncRNA-XIST and PTEN and a declined expression of miR-29a. LncRNAXIST suppresses the osteogenic differentiation of BMSCs by feat of the miR-29a/PTEN pathway.","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":"48123614","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
1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) Induces Cell Apoptosis of Human Mesangial Cells 1,25-二羟基维生素D3（1,25-（OH）2D3）诱导人系膜细胞凋亡
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.821
Chunjian Zhang
{"title":"1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) Induces Cell Apoptosis of Human Mesangial Cells","authors":"Chunjian Zhang","doi":"10.31901/24566330.2022/22.03.821","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.821","url":null,"abstract":"In China, primary glomerulonephritis is the leading cause of end-stage renal disease (ESRD), and patients who require kidney transplantation often with ESRD. Glomerulonephritis primary’s most prevalent subtype is Mesangial proliferative glomerulonephritis (MsPGN). Although the cell apoptosis of human mesangial cells (HMCs) may be harmful in MsPGN, it plays a major role in the elimination of excessive HMCs and reparative glomerular remodelling after inflammation. A powerful mitogen for growing mesangial cells is epidermal growth factor (EGF). Therefore, it is possible to induce the proliferation of HMCs by incubating with EGF in vitro. 1,25(OH)2D3(VD3) may cause cell death in HMCs via activating AKT, caspase-3, caspase-9, JNK, and ERK, as well as elevating Bax and Bad levels.","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":"48732144","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
MicroRNA-584-5p Restrains the Viability of Lung Cancer Cells through Targeting DPY30 Directly MicroRNA-584-5p通过直接靶向DPY30抑制肺癌细胞活力
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-09-01 DOI: 10.31901/24566330.2022/22.03.818
Jing Su
{"title":"MicroRNA-584-5p Restrains the Viability of Lung Cancer Cells through Targeting DPY30 Directly","authors":"Jing Su","doi":"10.31901/24566330.2022/22.03.818","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.818","url":null,"abstract":"","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":"43058224","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
Pluripotent Stem Cells – Potential Uses in the Pharmaceutical Field 多能干细胞-在制药领域的潜在用途
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-06-15 DOI: 10.31901/24566330.2022/22.03.820
A. I. Femeela
{"title":"Pluripotent Stem Cells – Potential Uses in the Pharmaceutical Field","authors":"A. I. Femeela","doi":"10.31901/24566330.2022/22.03.820","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.820","url":null,"abstract":"The cells can divide and differentiate into several types of cells in an organism. It is not able to differentiate as the extraembryonic tissues, which are termed as the ‘pluripotent cells’. The transcription factors such as, SOX-2, C-MYC, OCT-4 and KLF-4 are involved in the maintenance of pluripotency. Pluripotent stem cells (PSCs) can self-renewal cells, which may be either induced pluripotent stem cells (iPSCs) or embryonic stem cells (ESCs). Pluripotent cells can be used in the treatment of diseases like cancer, cosmetics and the healing of skin burns. The current review majorly focuses on the PHCs along with their history, their molecular markers and major transcription factors in a brief manner. The techniques including sensors and assays used for the assessment of pluripotency have also been discussed.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43372116","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
Hyperoside Facilitates Gastric Cancer (GC) Cell Apoptosis and Inhibits Viability via NF-κB/PTEN/JAK2 Pathway 金丝桃苷通过NF-κB/PTEN/JAK2通路促进胃癌细胞凋亡及抑制细胞活力
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-06-15 DOI: 10.31901/24566330.2022/22.03.819
Bo Shu
{"title":"Hyperoside Facilitates Gastric Cancer (GC) Cell Apoptosis and Inhibits Viability via NF-κB/PTEN/JAK2 Pathway","authors":"Bo Shu","doi":"10.31901/24566330.2022/22.03.819","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.819","url":null,"abstract":"This study investigated impacts of hyperoside on viabilities and apoptosis of gastric cancer (GC) cells. CCK-8 and flow cytometry were applied for examining HGC-27 cell viabilities and apoptosis, indicating that hyperoside treatment suppressed cell viabilities but facilitated cell apoptosis. Additionally, RT-qPCR results revealed that mRNA expressions of Bcl-2 in HGC-27 cells were downregulated while Bax and caspase-3 were elevated with hyperoside treatment. Furthermore, ELISA examined changes about protein concentrations of NF-κB/PTEN/JAK signalling pathway in HGC-27 cells after being treated by hyperoside. Results showed that protein concentrations of phosphorylated NF-κB/ p65 were reduced with hyperoside treatment while PTEN and JAK2 protein concentrations were promoted.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48729024","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
Research on Diagnosis and Prognosis of Cervical Cancer in FOXD1 宫颈癌FOXD1基因的诊断与预后研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-25 DOI: 10.31901/24566330.2022/22.03.810
Fang Liu
{"title":"Research on Diagnosis and Prognosis of Cervical Cancer in FOXD1","authors":"Fang Liu","doi":"10.31901/24566330.2022/22.03.810","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.810","url":null,"abstract":"The aim of the present study was to investigate the diagnostic and prognostic value of FOXD1 in cervical carcinoma. 24 patients with cervical carcinoma were the sample for this study. Human cervical carcinoma cell lines (AV3, Hela229, CaSki and Hela cells) and cervical normal cell line (UVECs) were used in this study for vitro model. FOXD1 mRNA expression level was up-regulated in the tissue of cervical cancer, compared with paracancerous tissue group. FOXD1 mRNA expression level in I-II patients with cervical cancer was lower than those of III-IV patients with cervical cancer. Overall survival (OS) and disease-free survival (DFS) of FOXD1 high expression were lower than those of FOXD1 low expression. FOXD1 mRNA expression level was induced in cervical cancer cell lines, compared with UVECs cell. In conclusion, serum FOXD1 expression was the diagnostic and prognostic value for cervical carcinoma, and promotes cell growth and metastasis via Warburg effect by CTGF.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47309404","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
CD200 as a Valuable Marker for Differentiating between CLL and Other B-cell Lymph Proliferative Disorders CD200作为区分CLL和其他B细胞淋巴增生性疾病的有价值标志物
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-25 DOI: 10.31901/24566330.2022/22.02.812
Noha Elnagdy
{"title":"CD200 as a Valuable Marker for Differentiating between CLL and Other B-cell Lymph Proliferative Disorders","authors":"Noha Elnagdy","doi":"10.31901/24566330.2022/22.02.812","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.02.812","url":null,"abstract":"Chronic lymphocytic leukaemia (CLL) being the commonest subtype of mature B-cell lymphoid neoplasms need to be differentiated correctly from other B-chronic lymphoproliferative disorders (BCLPD). CD200 is being an essential marker for prognosis and diagnosis of CLL. Sixty patients diagnosed with BCLPD were evaluated for CD200 expression with eight-colour flow cytometry. An integration of modified Matutes score and CD200 were applied for CLL diagnosis. The overall immunophenotype of CLL patients in this study showed significant, frequent expression of CD5, CD22, CD23, CD43 and CD200. Atypical versus typical CLL patients’ phenotype comparison revealed significant lower expression of CD5 and CD43 with higher expression of CD79b in atypical CLL patients. CD200 was expressed significantly higher in CLL patients (typical and atypical) than in MCL patients who showed dim CD200 expression in only twenty-five percent of patients. The inclusion of CD200 within the diagnostic markers can empower the modified Matutes score accuracy for CLL.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46779537","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
MTHFR C677T Polymorphism and Risk of Acute Lymphoblastic Leukaemia in Mexican Population MTHFR C677T多态性与墨西哥人群急性淋巴细胞白血病的风险
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.03.815
J. P. Meza-Espinoza
{"title":"MTHFR C677T Polymorphism and Risk of Acute Lymphoblastic Leukaemia in Mexican Population","authors":"J. P. Meza-Espinoza","doi":"10.31901/24566330.2022/22.03.815","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.815","url":null,"abstract":"The C677T polymorphism of the MTHFR gene has been frequently associated with acute lymphoblastic leukaemia (ALL) around the world. Therefore, the objective of this study was to determine whether the MTHFR C677T polymorphism is associated with ALL in Mexican children and adults. A case-control study was conducted on 243 patients with ALL (136 children and 107 adults) and 379 healthy controls. Genotyping of the C677T polymorphism was performed by the polymerase chain reaction-restriction fragment length polymorphism method. The frequency of the T allele was forty-three percent, fifty-two percent, and forty-six percent in children, adults, and controls, respectively. No risk of ALL was found for T allele carriers in children [OR=0.81 (0.52-1.25), P=0.33], but an increased risk was detected in adults [OR=4.98 (2.24-11.10), P<0.001]. The findings in children agree with most of the studies but are discordant with those reported in adults. These differences could be due to ethnicity, genetic background, sampling, and methodology.","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":"45716509","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
Circular RNA TOP2A Promotes Apoptosis and Suppresses Cell Viability of Ox-LDL-induced HAEC Cells via Sponging MicroRNA-27a-3p 环状RNA TOP2A通过海绵MicroRNA-27a-3p促进ox - ldl诱导的HAEC细胞凋亡并抑制细胞活力
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2022-04-15 DOI: 10.31901/24566330.2022/22.03.816
Yi He
{"title":"Circular RNA TOP2A Promotes Apoptosis and Suppresses Cell Viability of Ox-LDL-induced HAEC Cells via Sponging MicroRNA-27a-3p","authors":"Yi He","doi":"10.31901/24566330.2022/22.03.816","DOIUrl":"https://doi.org/10.31901/24566330.2022/22.03.816","url":null,"abstract":"This study explored impacts of circular RNA TOP2A and miR-27a-3p on HAECs after ox-LDL treatment. RNA expressions of circRNA TOP2A and miR-27a-3p were assessed by RT-qPCR in normal and ox-LDL-treated HAECs, showing circRNA TOP2A was inhibited and miR-27a-3p was upregulated after ox-LDL treatment. HAECs viabilities were promoted by ox-LDL treatment but overexpressed circRNA TOP2A suppressed the cell viability. Moreover, Ki-67 protein expression was downregulated while cleaved caspase-3 was inhibited. MiR-27a-3p was then confirmed to be sponged and suppressed by circRNA TOP2A while miR-27a-3p mimics promoted its expression. Additionally, decreased cell viability caused by overexpressed circRNA TOP2A was also reversed by miR-27a-3p overexpression. Furthermore, downregulated Ki-67 and increased cleaved caspase-3 protein expressions caused by circRNA TOP2A upregulation were also restored by overexpressed miR-27a-3p, resulting in promoted Ki-67 and decreased cleaved caspase-3.","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":"44887896","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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