OBM Genetics最新文献

{"title":"Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic Leukemia","authors":"Arbnora Batalli-Kepuska, L. Spahiu, E. Behluli, G. Temaj","doi":"10.21926/obm.genet.2403253","DOIUrl":"https://doi.org/10.21926/obm.genet.2403253","url":null,"abstract":"Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. The use of blinatumomab for treating R/R B-ALL has shown to be very efficient, especially as a bridge tool to hematopoietic stem cell transplantation (HSCT). The response to blinatumomab treatment ranged from 69% after two cycles in phase II clinical trials. Blinatumomab has shown great anti-leukemia activity as a single agent in children with R/R B-ALL. Here, we will review the data from several research groups that show pharmacological and clinical data on blinatumomab for pediatric and adult B-ALL, both as an immunotherapeutic and in combination.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"1 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141822392","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}

{"title":"Potential Use of Human Mesenchymal Stem Cells (hMSCs) in Pancreatic Damage/Cancer","authors":"Havva Özgen Eyüpoğlu, Erol Eyüpoğlu, N. Serakinci","doi":"10.21926/obm.genet.2403252","DOIUrl":"https://doi.org/10.21926/obm.genet.2403252","url":null,"abstract":"Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. This communication discusses current research findings on the application of hMSCs in pancreatic damage and cancer treatment while evaluating hMSC-mediated gene therapy in pancreatic disorders. Moreover, the challenges and considerations associated with hMSC-based therapies and the potential best therapeutic approaches are discussed. Furthermore, the current scientific evidence regarding hMSCs in revolutionizing the management of pancreatic damage and cancer, offering future perspectives for improved therapeutic strategies for patients facing these daunting conditions, is critically discussed.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":" 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141831408","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}

{"title":"Integrated Web Application (Snips2HLA-HsG) Development for Sample Preparation and Model Creation for HLA Allele Prediction with the SNP Data Using HIBAG Package of Bioconductor and R Programming","authors":"Balamurugan Sivaprakasam, Prasanna Sadagopan","doi":"10.21926/obm.genet.2402243","DOIUrl":"https://doi.org/10.21926/obm.genet.2402243","url":null,"abstract":"The present study introduces Snips2HLA-HsG, an integrated application designed for SNP genotype analysis and HLA allele type prediction. Leveraging attribute bagging, a powerful ensemble classifier technique from the Bioconductor HIBAG package, Snips2HLA-HsG offers a comprehensive response for genetic analysis. Accessible via https://snips2hla.shinyapps.io/hla_home/, the application distinguishes itself by prioritizing user-friendliness and integrating all-purpose functionalities, including sample preparation, model generation, HLA prediction, and accuracy assessment. In contrast to the fragmented landscape of existing HLA imputation software, this study addresses the need for an integrated, user-centric platform. By streamlining processes and enhancing accessibility, Snips2HLA-HsG ensures usability, even for biologists with limited computer proficiency. Future updates will address the choice between one or ten classifiers, aiming to optimize server utility and meet research needs effectively by adding more classifiers to utilize multiple cores for faster calculations. Looking ahead, Snips2HLA-HsG will undergo regular updates and maintenance to ensure continued effectiveness and relevance in genetic research. Maintenance efforts will focus on resolving issues or bugs and providing ongoing user support.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"5 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141343077","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}

{"title":"Melatonin As a Protective Agent Against Environmental Stresses: A Review into Its Molecular Regulation in Plants","authors":"Buti Obaid Saeed Alfalahi, Imane Lamdjad, Noaman Atallah Alheety, Mustafa Alnujaifi, Abdul Qayyum","doi":"10.21926/obm.genet.2402242","DOIUrl":"https://doi.org/10.21926/obm.genet.2402242","url":null,"abstract":"Understanding the impact of melatonin (N-acetyl-5-methoxytryptamine) on plant gene expression is crucial for unlocking its full potential as a tool for crop improvement and stress tolerance. Melatonin has emerged to have several influences on the transcriptional activity of numerous genes, helping to orchestrate plant responses to environmental cues. Furthermore, it has been shown that melatonin signaling pathways control downstream gene expression to ensure proper plant growth and development. Therefore, clearing out the complex interaction between melatonin and plant gene expression has enormous potential to further our knowledge of plant biology and develop novel farming techniques. In this review, we have gathered the recent studies that elucidate the role of applied melatonin in regulating stress-responsive genes under various abiotic stresses.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"126 49","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141351656","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}

{"title":"The Screening Strategies Used to Establish Egyptian Women Entrepreneurs’ Attitudes towards Genetic Technology","authors":"Nadia A. Abdelmegeed Abdelwahed","doi":"10.21926/obm.genet.2402241","DOIUrl":"https://doi.org/10.21926/obm.genet.2402241","url":null,"abstract":"In this quantitative study, the researcher examined the screening strategies used to establish Egyptian women entrepreneurs' attitudes toward genetic technology. Using a questionnaire, the researcher collected data from 318 Egyptian women entrepreneurs. From applying the path analysis through Analysis of Moment Structures (AMOS) version 26.0, this study’s findings demonstrate genomic knowledge’s positive effect on attitudes towards genetic technology (β = 0.176; p = 0.003). The path analysis shows that, on the one hand, the feasibility of screening procedures has a positive effect on attitudes toward genetic technology (β = 0.171; p = 0.000). On the other hand, this study’s findings show that societal and health system issues negatively and not statistically significantly affect attitudes toward genetic technology (β = -0.007; p = 0.556). In addition, this study’s findings help towards initiatives to improve genomic literacy through educational programs and in association with genetic experts. Moreover, this study’s conclusions foster community assignation and open discourse to generate a knowledgeable and supportive environment, ensuring that policies and practices align with women entrepreneurs' unique needs and concerns about genetic technology.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"90 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141352610","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}

{"title":"X Ray-Induced Insulinoma Cell Line Rin-5F Has a Novel Mutation Site, C.A1459G (P.T487A), in Death Domain Associated Protein (DAXX) Gene","authors":"Takayoshi Kiba","doi":"10.21926/obm.genet.2401223","DOIUrl":"https://doi.org/10.21926/obm.genet.2401223","url":null,"abstract":"A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone. The complete DNA and RNA were extracted from the cultivated cells as well. Double-stranded cDNA was then synthesized using the RNA template. Sequencing was done using a 3730xl DNA Analyzer. In the present study, c.A1459G (p.T487A) in Exon 5 in the DAXX gene was detected in Rin-5F cell lines, one of the X-ray-induced insulinomas. An NCBI homology search reveals that the 487 amino acid site in rats is the 497 amino acid of humans, based on the genomic cDNA homology between rats and humans. In humans, the COSMIC database suggests that mutations involving 497 amino acids have not been detected in all human cancers. However, the mutation of 496 amino acids was detected in human stomach and colon cancers. This is the first account of the DAXX gene's state in a cell line created by exposure to X-rays. This may point to the need for additional data and research on unique gene alterations involved in the development of X-ray-induced insulinoma tumors.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140228966","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}

{"title":"Preimplantation Genetic Testing: Personal Views Regarding the Invasiveness of Trophectoderm Biopsy and Risks on Embryos Development “An Operators Survey”","authors":"F. Al-Rshoud, Lina Almahmoud, Nagham Younis, Rnad AL. Ajarmeh, Ahmad M. Fares","doi":"10.21926/obm.genet.2401222","DOIUrl":"https://doi.org/10.21926/obm.genet.2401222","url":null,"abstract":"This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), number of laser pulses, assessment of embryo survival after biopsy, and degeneration rate. An online cross-sectional survey was conducted in November 2022. The collected data presented the perception of embryologists (>10 years experience) about the difficulty of the technique and the awareness of the risks it imposes on embryonic development. Potential predictors of embryologists’ awareness of the risks of trophectoderm biopsy in preimplantation genetic testing (PGT) and procedure difficulty were investigated. 125 embryologists were eligible, and 72 (57.6%) adequately filled the questionnaire, of which 51 (70.8%) perceived the procedure as moderately difficult. However, 8 (11.1%) embryologists perceive it as very difficult. Regarding the preferred time of zona breaching, 39 (54.2%) of embryologists perform zona breaching on day 5 of embryonic life. 68% claim they primarily use flicking when performing TE biopsy. Moreover, 33 (45.8%) of the 72 surveyed embryologists claimed they use 2-3 laser pulses, and 56 (77.8%) claimed it takes 2 to 3 minutes to finish the procedure. Regarding the embryologists’ awareness of the risk of Inner Cell Mass (ICM) herniation, most embryologists 46 (64%) believed there is a moderate risk if zona breaching is done on day 3. 23 (32%) acknowledge the procedure as having a low risk for embryonal development. 29 (40.3%) of embryologists assess survival by checking the re-expansion of the biopsied blastocyst after 2 hours, while 18% check blastocyst re-expansion after 15 minutes. 39 (54.2%) claimed that the incidence of degeneration rate post-TE biopsy is rare. TE biopsy strategy is one of the most promising biopsy techniques in PGT. Most embryologists in Jordan perceive the procedure as moderately difficult due to the technical considerations involved in performing the optimum TE biopsy.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"36 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140259520","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}

{"title":"A Review on Male Infertility and Herbal Medicine: Complementary and Alternative Therapies in Animal Models","authors":"Mohsen Akbaribazm, Elnaz Khordad, Mohsen Rahimi","doi":"10.21926/obm.genet.2401221","DOIUrl":"https://doi.org/10.21926/obm.genet.2401221","url":null,"abstract":"Various factors contributing to male infertility include genetic determinants, hormonal/neurological imbalance, erectile/libido disorders, genital tract injuries, and toxic/ischemic testicular injuries. Herbs increase sperm count and quality parameters, as well as sexual performance in infertile men, through various mechanisms. For this purpose, efforts were made to investigate effective plants in treating infertility, focusing on those studied in animal research. In this review, we explored the latest findings from animal studies on the therapeutic applications of medicinal plants in male infertility. Based on MeSH keywords, 250 animal studies investigating the effects of herbs on male infertility were reviewed, 72 of which were selected after removing duplicated and unrelated articles. The search was conducted in the Scientific Information Database, the World Health Organization database, Web of Science, Science Direct, Iranmedex, Cochran Library, PubMed, and Google Scholar. The mechanisms underlying the therapeutic effects of herbs on male infertility caused by hormonal disorders, oxidative stress, cytokines, inflammatory pathways, as well as erectile and libido disorders were discussed. Aphrodisiac, spermatogenesis-inducing compounds, antioxidants, anti-inflammatory agents, and androgenic compounds, including anthocyanins, proanthocyanidins, ginsenosides, protodioscin, quassinoids, sesquiterpenes, diosgenin, phyto-oestrogens, thymoquinone, and bajijiasu, in these plants increase male fertility by affecting the hypothalamic-pituitary-gonadal axis and improving sperm’s functional parameters and fertility indices in relation with seminiferous tubules.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"59 7‐8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140261604","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}

{"title":"Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1","authors":"Khaliunaa Bayanbold, Noel Tolbanen, John A Bernat, Jaime Nagy","doi":"10.21926/obm.genet.2401220","DOIUrl":"https://doi.org/10.21926/obm.genet.2401220","url":null,"abstract":"Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in 85% of cells. Clinical features of this individual included atypical facies with frontal bossing, bitemporal narrowing, prominent cupped ears, and mild speech delay. Presented here is a novel case of PTLS associated with mosaic gains of chromosomes 14 and 17. As small supernumerary marker chromosomes (sSMCs) involving non-acrocentric chromosomes are rare, this case contributes to our understanding of phenotypic spectrum associated with sSMC(17).","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"122 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140079087","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}

{"title":"Artocarpus Communis Seed Regulates P53, IRS, HsD17β2, FTO, and CYP11a Genes in Polycystic Ovarian Syndrome Rats","authors":"Akingbolabo Daniel Ogunlakin, O. Ojo, Chimzi David Onu-Boms, Oluwafemi Samson Afolayan, P. O. Ayeni, I. A. Akinwumi, Opeyemi J. Akinmurele, G. Adebodun, Damilare Iyinkristi Ayokunle, O. A. Ambali, Omolola Adenike Ajayi-Odoko, O. A. Ogunlakin, M. Sonibare","doi":"10.21926/obm.genet.2401213","DOIUrl":"https://doi.org/10.21926/obm.genet.2401213","url":null,"abstract":"Polycystic ovarian syndrome (PCOS) is a prevalent endocrine illness that affects 5-10% of reproductive women globally. It is a multifaceted hormonal disorder characterized by the involvement of numerous molecular mechanisms that contribute to its development. This study investigates the effect of Artocarpus communis seed on the hormonal imbalance and P53, IRS, HsD17β2, FTO, and CYP11a genes expression in the ovaries of letrozole-induced polycystic ovarian syndrome rats. To induce PCOS in 30 female Wistar rats, letrozole was administered at a dosage of 1 mg/kg. For 12 days, Artocarpus communis seed aqueous extract (100 and 250 mg/kg body weight) and Clomiphene citrate (1 mg/kg body weight), a standard medication, were given. ELISA assessed luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol levels. The levels of P53, IRS, HsD17β2, FTO, and CYP11a gene expression in the ovaries were assessed. The aqueous extract reduced LH and increased FSH levels in Letrozole-induced PCOS rats. Additionally, seed aqueous extract (250 mg/kg bw) regulated the expression of P53, type 2 17-HSD (17-HSD), fat mass and obesity-associated (FTO), 11a-hydroxylase/17,20-desmolase (CYP11a), and insulin receptor substrate (IRS) genes in the ovaries of PCOS rats. Therefore, Artocarpus communis seed might have multifaceted effects on molecular pathways associated with PCOS, potentially normalizing androgen metabolism, hormonal imbalance, and ovarian function.","PeriodicalId":503721,"journal":{"name":"OBM Genetics","volume":"13 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139958200","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}