Chromosome 7 Isodisomy in a Child with Silver-Russell Syndrome
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
![](/uploads/images/unknow-avatar.png)
Abstract
55 489
Chromosome 7 Isodisomy in a Child with Silver-Russell Syndromeby
![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract
Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficul [...] 55 489 |
Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal AbnormalitiesAbstract
Infertility affects millions globally, with 10-15% of couples experiencing unexplained cases. Despite advancements in medicine, the cause remains unknown, causing emotional distress. Recent research suggests a genetic basis for this issue. This review aims to provide a better understanding of the underlying genetic factors contributing to unexplained infertility and potentially identify genetic markers that could aid in the diagnosis and treatment of this condition. A literature review was conducted to understand t [...] 73 405 |
Physico-Chemical Study of the Anti-Diabetic Drug of [BzN-EJJ-amide] for Treatment Type2 Diabetes Using CNT Sensor by Drug Delivery MethodAbstract
The potential and selective inhibitors of protein tyrosine phosphatase 1B (PTP1B) are therapeutically useful in treating type 2 diabetes. N-Benzoyl-L-glutamyl-[4-phosphono(difluoromethyl)]-L-phenylalanine-[4-phosphono(difluoro-methyl)]-L-phenylalanineamide (BzN-EJJ-amide) (BGD) which is the ligand of 1LQF protein code extracted from protein data bank (PDB) is an inhibitor of PTP-1B that indicates selectivity over several protein tyrosine phosphatases. In this research, the interaction between the anti-diabetic drug [...] 58 388 |
Establishment of an In Vitro Propagation, Transformation, and Gene Editing System in Tomato (Solanum lycopersicum)Abstract
Tomato (Solanum lycopersicum), a family of Solanaceae, is an annual crop grown in fields and greenhouses. Tomato is the fourth-largest agricultural crop in the world, with a market value of more than $50 billion. Numerous attempts were conducted on the tomato for further improvement via in vitro regeneration and transformation. This study aims to establish in vitro multiplication, transformation, and gene editing systems in tomatoes by using cotyledon explants. Cotyledon explants were placed on the MS medium suppor [...] 80 465 |
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 ProgrammingAbstract
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, mode [...] 90 841 |
Melatonin As a Protective Agent Against Environmental Stresses: A Review into Its Molecular Regulation in Plantsby
![]() ![]() ![]() ![]() ![]() 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 [...] 111 675 |
The Screening Strategies Used to Establish Egyptian Women Entrepreneurs’ Attitudes towards Genetic TechnologyAbstract
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 [...] 141 618 |
Molecular Cytogenetic Characterization of Rare but Repeatedly Observed TranslocationsAbstract
Balanced chromosomal rearrangements, including translocations, contribute to infertility, repeated abortions, and/or genetically imbalanced offspring in corresponding carriers. A translocation is usually considered a unique, de novo, or familial event. Besides, some translocations have also been shown to develop multiple times with slightly different or even identical breakpoints; for others, founder effects have been suggested. Here, two known recurrent translocations [t(11;22)(q23.3;q11.21) and der(X)t(X; Y)(p22. [...] 91 527 |
Reflective Evaluation of Next-Generation Sequencing Data during Early Phase Detection of the Delta Variantby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract
During the SARS-CoV-2 pandemic, next-generation sequencing (NGS) technologies like the Ion Torrent S5 and Illumina MiSeq, alongside advanced software, improved genomic surveillance in South Africa. This study analysed anonymized samples from the Eastern Cape using Genome Detective and NextClade, showing Ion Torrent S5 and Illumina MiSeq success rates of 96% and 94%, respectively. The study focused on genomic coverage (above 80%) and mutation detection (below 100), with the Ion Torrent S5 achieving 99% coverage comp [...] 141 874 |
Biotechnology Innovation in Do-It-Yourself (DIY) Gene Editing: A Call for a New Regulatory FrameworkAbstract
The expansion of do-it-yourself (DIY) gene editing, facilitated by Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology, has catalyzed a significant shift in scientific research and biotechnology innovation. This movement is propelled by a community-driven approach that challenges the traditional confines of scientific exploration, allowing amateur scientists to perform sophisticated biological experiments. While this democratization fosters inclusivity and accelerates innovation, it simult [...] 155 875 |
TOP