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Table of Contents

Volume 8,Issue 2

Open Access Case Report

Chromosome 7 Isodisomy in a Child with Silver-Russell Syndrome

Received: 19 March 2024;  Published: 24 June 2024;  doi: 10.21926/obm.genet.2402247

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, dysmorphi [...]

Open Access Review

Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal Abnormalities

Received: 24 March 2024;  Published: 20 June 2024;  doi: 10.21926/obm.genet.2402246

Abstract

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 condu [...]

Open Access Original Research

Physico-Chemical Study of the Anti-Diabetic Drug of [BzN-EJJ-amide] for Treatment Type2 Diabetes Using CNT Sensor by Drug Delivery Method

Received: 22 February 2024;  Published: 19 June 2024;  doi: 10.21926/obm.genet.2402245

Abstract

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 inhi [...]

Open Access Original Research

Establishment of an In Vitro Propagation, Transformation, and Gene Editing System in Tomato (Solanum lycopersicum)

Received: 12 January 2024;  Published: 18 June 2024;  doi: 10.21926/obm.genet.2402244

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 transfo [...]

Open Access Original Research

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

Received: 24 December 2023;  Published: 14 June 2024;  doi: 10.21926/obm.genet.2402243

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 [...]

Open Access Review

Melatonin As a Protective Agent Against Environmental Stresses: A Review into Its Molecular Regulation in Plants

Received: 05 February 2024;  Published: 12 June 2024;  doi: 10.21926/obm.genet.2402242

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. [...]

Open Access Original Research

The Screening Strategies Used to Establish Egyptian Women Entrepreneurs’ Attitudes towards Genetic Technology

Received: 12 March 2024;  Published: 12 June 2024;  doi: 10.21926/obm.genet.2402241

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 sho [...]

Open Access Original Research

Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Translocations

Received: 15 April 2024;  Published: 11 June 2024;  doi: 10.21926/obm.genet.2402240

Abstract

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 [...]

Open Access Research Article

Reflective Evaluation of Next-Generation Sequencing Data during Early Phase Detection of the Delta Variant

Received: 01 March 2024;  Published: 30 May 2024;  doi: 10.21926/obm.genet.2402239

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 achievi [...]

Open Access Review

Biotechnology Innovation in Do-It-Yourself (DIY) Gene Editing: A Call for a New Regulatory Framework

Received: 04 March 2024;  Published: 29 May 2024;  doi: 10.21926/obm.genet.2402238

Abstract

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 i [...]

Open Access Review

Bacteriophages Therapy: Exploring Their Promising Role in Microbiome Modulation and Combatting Antibiotic Resistance

Received: 28 February 2024;  Published: 28 May 2024;  doi: 10.21926/obm.genet.2402237

Abstract

Bacteriophages, or phages, are viruses that infect bacteria, exhibiting specificity towards particular bacterial strains. Despite being overshadowed by traditional antibiotics in the West, interest in phage therapy has resurged due to the escalating antimicrobial resistance crisis. Understanding phage biology, selection, production, and pharmacology is crucial for their clinical application. Phages interact intricately with the human microbiome, influencing bacterial populations and potentially [...]

Open Access Original Research

The Significance of Key Proteins in the RAS Signaling Pathway: Implications for Cancer and Therapeutic Targets

Received: 18 January 2024;  Published: 24 May 2024;  doi: 10.21926/obm.genet.2402236

Abstract

The RAS signaling pathway is a crucial cell transduction pathway central to transmitting signals from outside the cell to the cell nucleus and influencing fundamental biological mechanisms like cell growth, division, and specialization. This signaling pathway has recently received much attention in scientific research because of its involvement in various diseases, especially carcinogenesis. Our study identified the significance of crucial proteins in the RAS signaling cascade in cancer developm [...]

Open Access Original Research

Cryptic Resilience: Decoding Molecular Networks in Pearl Millet for Enhanced Heat Stress

Received: 20 February 2024;  Published: 20 May 2024;  doi: 10.21926/obm.genet.2402235

Abstract

Pearl millet (Pennisetum glaucum), a vital cereal crop renowned for its drought tolerance, is a cornerstone for smallholder farmers in arid and semi-arid regions, ranking as the fifth most significant cereal globally. Despite its resilience, the molecular mechanisms underlying its tolerance to heat stress remained elusive. To address this knowledge gap, we subjected ten-day-old pearl millet seedlings to an unprecedented temperature of 50°C for 60 seconds. Subsequent next-gen [...]

Open Access Opinion

Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome

Received: 15 February 2024;  Published: 08 May 2024;  doi: 10.21926/obm.genet.2402234

Abstract

Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. Epilepsy develops in ~90% folllowed by drug-resistant epilepsy (DRE). Recently, prevention of DRE and developmental encephalopathy was shown to be possible in TSC using early administration of vigabatrin. For the first time, medica [...]

Open Access Review

Induced Mutagenesis using Gamma Rays: Biological Features and Applications in Crop Improvement

Received: 24 December 2023;  Published: 29 April 2024;  doi: 10.21926/obm.genet.2402233

Abstract

Induced mutagenesis has emerged as an essential field of plant breeding to address global food security challenges, offering tools to enhance crop productivity, resistance, and nutritional value. Among the mutation induction tools, the physical mutagen such as gamma rays holds promise for efficient mutation induction. Gamma rays, a type of high-energy electromagnetic radiation, possess unique characteristics that enable them to penetrate plant tissues and induce genetic mutations. The biological [...]

Open Access Review

Salinity Stress in Maize: Consequences, Tolerance Mechanisms, and Management Strategies

Received: 04 December 2023;  Published: 29 April 2024;  doi: 10.21926/obm.genet.2402232

Abstract

Maize, along with rice and wheat, is a popular staple food crop worldwide, and the most widely produced cereal crop. It is a versatile crop that may be utilized as a source of raw materials for human and animal fodders. Low agricultural yield and rapid population expansion significantly threaten future food security. Maize production is hampered by biotic and abiotic causes, with abiotic factors being the most critical limitation to agricultural output worldwide. Soil salinity is a key abiotic f [...]

Open Access Original Research

Unveiling Genetic Variation in Garlic Genotypes in Response to Rust Disease Using RAPD Markers

Received: 23 January 2024;  Published: 28 April 2024;  doi: 10.21926/obm.genet.2402231

Abstract

Garlic (Allium sativum), cultivated worldwide for its medicinal and nutritional value, faces challenges due to diseases caused by various pathogens. In this study, eleven garlic genotypes from Iran and one from China were selected and sown under natural infection rendered by the rust fungus (Puccinia alli) over two consecutive years. Subsequent [...]

Open Access Review

Molecular Plant Physiology for Model Plants under Abiotic Stress Conditions

Received: 23 December 2023;  Published: 24 April 2024;  doi: 10.21926/obm.genet.2402230

Abstract

Extreme temperatures, drought, and high soil salinity are some of the significant abiotic stresses that can severely impact crop yields, posing a threat to global food production. Comprehensive studies on model plant species are crucial for understanding their biochemical, physiological, and molecular responses to abiotic stresses. Identifying stress response mechanisms and potential targets can aid in developing stress-tolerant crop varieties. Additionally, elucidating the functions of reactive [...]

Open Access Case Report

Sun Safety Struggles Among Children with Xeroderma Pigmentosum in a Tropical Low-Income Country

Received: 05 February 2024;  Published: 19 April 2024;  doi: 10.21926/obm.genet.2402229

Abstract

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photoprotection compliance among pediatric XP patients. However, no studies have assessed photoprotection compliance among children with XP living in tropical and low-economic settings. This article report [...]

Open Access Review

Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid Oxidation

Received: 08 February 2024;  Published: 18 April 2024;  doi: 10.21926/obm.genet.2402228

Abstract

Newborn screening for neuromuscular disorders and glycogen or fatty acid oxidation disorders aims to identify infants at risk for these conditions, allowing for early intervention and management. While not all neuromuscular disorders currently have established newborn screening programs, there are various disorders for which screening is available or under investigation. Neuromuscular disorders encompass a wide range of conditions that affect the nerve, muscle, or the connection between them. Ex [...]

Open Access Original Research

A Comprehensive in Silico Analysis of the Functional and Structural Consequences of the Deleterious Missense Nonsynonymous SNPs in Human GABRA6 Gene

Received: 20 December 2023;  Published: 15 April 2024;  doi: 10.21926/obm.genet.2402227

Abstract

Epilepsy, a prevalent neurological disorder, affects more than 50 million individuals worldwide and is characterized by recurring seizures. Nonsynonymous single nucleotide polymorphisms (nsSNPs) found within coding regions of epilepsy-related genes are believed to have significant impacts on protein function. This is due to their tendency to cause mutations in the encoded amino acids, which can subsequently lead to pathogenic alterations in protein structure and function. Consequentl [...]

Open Access Original Research

Chest CT Scan Features of COVID-19 in a Hospitalized High-Altitude Population

Received: 30 November 2022;  Published: 12 April 2024;  doi: 10.21926/obm.genet.2402226

Abstract

There is a lack of knowledge regarding the type of lung compromise in high-altitude residents with COVID-19. This study aims to evaluate the lung compromise in chest CT scans of high-altitude dwellers hospitalized with COVID-19. Retrospective study that took place in "Daniel Alcides Carrión" Regional Hospital, located 3,250 meters above sea level in the city of Huancayo, Perú. 464 medical charts and chest CT images of hospitalized patients with confirmed COVID-19 from January to March [...]

Open Access Review

Allelic Variation of High-Molecular-Weight Glutenin Genes in Triticum Species and Triticale (× Triticosecale Wittmack)

Received: 27 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402225

Abstract

High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification of HMW-GS is the prerequisite for pyramiding high-quality glutenin genes. The present review is designed to list all published HMW-GS alleles in Triticum species and triticale (A- [...]

Open Access Book Review

Book Review: Small Supernumerary Marker Chromosomes. Basics

Received: 21 February 2024;  Published: 09 April 2024;  doi: 10.21926/obm.genet.2402224

Abstract

This review provides a critical assessment of the content and structure of the recently published book by Dr. Thomas Liehr, 'Small Supernumerary Marker Chromosomes: Basics.'
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