Global Medical Genetics最新文献_第10页

CD24 + MDSC-DCs Induced by CCL5-Deficiency Showed Improved Antitumor Activity as Tumor Vaccines 缺乏ccl5诱导的CD24 + mdsc - dc作为肿瘤疫苗具有更好的抗肿瘤活性

IF 1.7

Global Medical Genetics Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1743569

Lei Huang, Zequn Ding, Yan Zhang

{"title":"CD24 + MDSC-DCs Induced by CCL5-Deficiency Showed Improved Antitumor Activity as Tumor Vaccines","authors":"Lei Huang, Zequn Ding, Yan Zhang","doi":"10.1055/s-0042-1743569","DOIUrl":"https://doi.org/10.1055/s-0042-1743569","url":null,"abstract":"Background Dendritic cell (DC) tumor vaccine has been extensively utilized in preclinical and clinical studies; however, this technique has encountered many difficulties, particularly in late-stage tumor patients. For those, ex vivo-induced DCs are actuallymyeloid-derived suppressive cells-derived DCs (MDSC-DCs). MDSCs with immunosuppressive activity, but not monocytes, became the major DC precursor. Thus, how to enhance antitumor activity of MDSC-DCs is urgent need to address. Methods We utilized 4T1 and MC38 tumor-bearing both wildtype and CC chemokine ligand 5 −/− (CCL5 −/− ) mice as animal models. MDSC-DCs were induced from splenocytes of these mice by granulocyte macrophage–colony stimulating factor/interleukin-4 with or without all-trans-retinoic acid (ATRA) in vitro for 7 days, then incubated with tumor-cell-lysis to treat mouse models for total three doses. For human MDSC-DCs, peripheral bloods from colorectal cancer patients were induced in vitro as murine cells with or without T- lymphocytes depletion to get rid of CCL5. Results Flow cytometry analysis showed that MDSCs from CCL5 −/− mice could be induced into a new type of CD24 + MDSC-DCs in the presence of ATRA, which had more antitumor activity than control. Antibody blocking and adoptive transfer experiments demonstrated that downregulation of regulatory T cells (Tregs) mediated the inhibition of CD24 + MDSC-DCs on tumor growth. Mechanically, CD24 + MDSC-DCs inhibited Tregs' polarization by secreting cytokine or coactivators' expression. What's important, decreasing CCL5 protein levels by T- lymphocytes depletion during both murine and human MDSC-DCs in vitro induction could also acquire CD24 + MDSC-DCs. Conclusion Knockdown of CCL5 protein during MDSC-DCs culture might provide a promising method to acquire DC-based tumor vaccines with high antitumor activity.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"97 - 109"},"PeriodicalIF":1.7,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44145803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Contributing Reviewers in 2021. 2021年投稿审稿人。

IF 1.7

Global Medical Genetics Pub Date : 2022-02-11 eCollection Date: 2022-03-01 DOI: 10.1055/s-0042-1742488

引用次数: 0

Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study 非综合征性听力障碍患者GJB2基因变异的家族性研究

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743257

Smita Hegde, Rajat Hegde, S. Kulkarni, Kusal K. Das, P. Gai, R. Bulagouda

{"title":"Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study","authors":"Smita Hegde, Rajat Hegde, S. Kulkarni, Kusal K. Das, P. Gai, R. Bulagouda","doi":"10.1055/s-0042-1743257","DOIUrl":"https://doi.org/10.1055/s-0042-1743257","url":null,"abstract":"Objective The goal of this research was to investigate the gap junction beta 2 ( GJB2 ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient's DNA was isolated from peripheral blood samples. The GJB2 gene coding region was analyzed through Sanger sequencing. Results There is no changes in the first exon of the GJB2 gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3′-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. Conclusion GJB2 mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"152 - 158"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47045387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Variants in Interleukin-10 Gene Association with Susceptibility and Cervical Cancer Development: A Case Control Study 白介素-10基因与易感性和宫颈癌发展相关的遗传变异:一项病例对照研究

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743262

Pushpendra D. Pratap, Syed Tasleem Raza, Ghazala Zaidi, Shipra Kunwar, Sharique Ahmad, M. Charles, A. Eba, Muneshwar Rajput

{"title":"Genetic Variants in Interleukin-10 Gene Association with Susceptibility and Cervical Cancer Development: A Case Control Study","authors":"Pushpendra D. Pratap, Syed Tasleem Raza, Ghazala Zaidi, Shipra Kunwar, Sharique Ahmad, M. Charles, A. Eba, Muneshwar Rajput","doi":"10.1055/s-0042-1743262","DOIUrl":"https://doi.org/10.1055/s-0042-1743262","url":null,"abstract":"Objectives Cervical cancer (CC) is one of the most destructive disease caused by persistent HPV infection which affects women worldwide, especially in developing countries. The genetic basis of host immune response especially cytokine function has been shown to influence CC susceptibility. Studies have demonstrated that IL-10 gene polymorphism have been associated with numerous malignancies, but in context to CC results were inconclusive. Though, aim of our study to investigate the association between IL-10 -1082A/G and -819C/T promoter polymorphism and CC susceptibility. Material and Methods This study comprised 192 women with CC and 200 controls. HPV detection was done by RT-PCR and genotyping was assessed through PCR-RFLP method. Serum concentration of IL-10 measured by ELISA. Results Women with AG and AG+GG genotypes of IL-10 -1082A/G had two-fold increased risk of CC [OR, 2.35 (95% CI, 1.54–3.58), p = 0.005], [OR, 2.03 (95% CI, 1.36–3.04), p = 0.0005] compared to controls. Women with G allele of -1082A/G polymorphism had linked with CC susceptibility [OR, 1.39 (95% CI, 1.02–1.88), p = 0.036] compared to controls. No significant difference was found between patients and controls in the genotype or allele frequencies of IL–10 -819C/T polymorphism [OR, 1.00 (95% CI, 0.63–1.58), p = 0.99]. The level of serum concentration of IL-10 was significantly higher in cases compared to controls. Conclusion These findings help to understand that polymorphism of IL-10 -1082A/G gene is associated with increased risk of CC development and can serve as a marker of genetic susceptibility to CC.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"129 - 140"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48406665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Mannose-Binding Lectin 2 Gene Polymorphism during Pandemic: COVID-19 Family 大流行期间甘露糖结合凝集素2基因多态性:COVID-19家族

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743258

T. Tukek, S. Pehlivan, Y. Oyacı, U. Işoğlu-Alkaç

引用次数: 1

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy 婴儿18p染色体缺失综合征和不对称鼻中隔肥厚的表现

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743261

A. Kocaaga, S. Yimenicioglu

引用次数: 0

Psoriasis: An Immunogenetic Perspective 银屑病的免疫遗传学研究

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743259

A. Kocaaga, M. Kocaağa

引用次数: 5

The Human Genetics of Dental Anomalies 牙齿畸形的人类遗传学

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743572

M. Khan, Nadeem Ahmed, P. Neela, Nayeem Unnisa

引用次数: 5

Genetic Variants and Drug Efficacy in Tuberculosis: A Step toward Personalized Therapy 结核病的遗传变异和药物疗效:迈向个体化治疗的一步

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743567

Almas Khan, M. Abbas, Sushma Verma, Shrikant Verma, A. Rizvi, F. Haider, Syed Tasleem Raza, F. Mahdi

{"title":"Genetic Variants and Drug Efficacy in Tuberculosis: A Step toward Personalized Therapy","authors":"Almas Khan, M. Abbas, Sushma Verma, Shrikant Verma, A. Rizvi, F. Haider, Syed Tasleem Raza, F. Mahdi","doi":"10.1055/s-0042-1743567","DOIUrl":"https://doi.org/10.1055/s-0042-1743567","url":null,"abstract":"Tuberculosis (TB) continues to be a major infectious disease affecting individuals worldwide. Current TB treatment strategy recommends the standard short-course chemotherapy regimen containing first-line drug, i.e., isoniazid, rifampicin, pyrazinamide, and ethambutol to treat patients suffering from drug-susceptible TB. Although Mycobacterium tuberculosis , the causing agent, is susceptible to drugs, some patients do not respond to the treatment or treatment may result in serious adverse reactions. Many studies revealed that anti-TB drug-related toxicity is associated with genetic variations, and these variations may also influence attaining maximum drug concentration. Thus, inter-individual diversities play a characteristic role by influencing the genes involved in drug metabolism pathways. The development of pharmacogenomics could bring a revolution in the field of treatment, and the understanding of germline variants may give rise to optimized targeted treatments and refine the response to standard therapy. In this review, we briefly introduced the field of pharmacogenomics with the evolution in genetics and discussed the pharmacogenetic impact of genetic variations on genes involved in the activities, such as anti-TB drug transportation, metabolism, and gene regulation.","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"9 1","pages":"90 - 96"},"PeriodicalIF":1.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45356095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing 无创产前检测中胎儿微缺失和单基因变异的生物信息学方法比较

IF 1.7

Global Medical Genetics Pub Date : 2022-02-01 DOI: 10.1055/s-0042-1743573

Lizzy Teleboshe Paul, M. C. Ergoren

引用次数: 0