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Open Access Review

Physio-Chemical and Molecular Characterization of Salinity Stress in Wheat: Mitigation Approaches and Future Perspectives

Received: 09 July 2025;  Published: 10 November 2025;  doi: 10.21926/obm.genet.2504316

Abstract

Wheat constitutes the backbone of global food supplies, and its production is directly linked to the food and nutritional security of the mounting population. Wheat is vulnerable to abiotic stresses like heat, salinity, and drought. These abiotic stresses tend to reduce the food security of the increasing population by reducing wheat production and nutritional quality. Among abiotic stresses, salinity stress (SS) has emerged as the most prevailing stress in modern high-input wheat farming systems, as it severely ha [...]

1025 4067

Open Access Original Research

The Effect of Adding Mealworm, Probiotics, and Mealworm Plus Probiotics on IL-8 Gene Expression in Liver and Spleen Tissues of Broiler Chickens

Received: 30 July 2025;  Published: 30 October 2025;  doi: 10.21926/obm.genet.2504315

Abstract

Interleukin-8 (IL-8), a pro-inflammatory cytokine, plays a critical role in immune modulation in poultry and has potential applications in veterinary and human medicine. This study investigated the effects of dietary supplementation with mealworm (Tenebrio molitor), probiotics, or their combination on IL-8 gene expression in the livers and spleens of broiler chickens. A total of 160 one-day-old broiler chickens (Ross 308 strain) were assigned to four treatments (basal diet, basal diet + 0.2 g/kg probiotic, basal di [...]

647 2703

Open Access Review

Etiopathogenesis of Ebstein’s Anomaly Revisited

Received: 28 June 2025;  Published: 30 October 2025;  doi: 10.21926/obm.genet.2504314

Abstract

Ebstein's anomaly (EA) is a rare form of congenital heart disease (CHD), characterized by abnormal cardiac anatomy involving a defective tricuspid valve (TV), resulting in tricuspid regurgitation (TR) and cyanosis. EA is represented in different case scenarios with varying degrees of complexity across various age groups. It usually affects 0.2-0.7 out of 10,000 live births and accounts for 0.3%-0.6% of all CHD cases. While its occurrence is mainly sporadic, evidence from multiple studies suggests that EA can be ass [...]

5418 13790

Open Access Research Article

Potential Synergistic Interaction Between Curcumin and Sorafenib Enhances Cytotoxicity in NCI-H5222 Lung Cancer Cells

Received: 25 August 2025;  Published: 15 October 2025;  doi: 10.21926/obm.genet.2504313

Abstract

Non-small cell lung cancer (NSCLC), accounting for approximately 85% of lung cancer cases, remains a leading cause of cancer-related mortality. Genetic alteration such as EGFR mutations, tobacco exposure, and resistance to apoptosis, slows its progression and limits therapeutic success. Although targeted therapies and immunotherapy have improved outcomes for select patients, resistance remains a major challenge, highlighting the need for more effective treatments. This study investigated the potential synergistic i [...]

706 3157

Open Access Original Research

Network Topology Similarities Across Cancer Types: Identifying Central Protein Hubs for Drug Discovery

Received: 18 June 2025;  Published: 13 October 2025;  doi: 10.21926/obm.genet.2504312

Abstract

A molecular-level understanding of cancer is essential for the development of effective therapies. Constructing protein-protein interaction (PPI) networks offers a valuable approach to identifying dysregulated driver genes and potential therapeutic targets. In this study, we modeled cancer PPI networks as metric spaces and applied mathematical and computational algorithms to analyze their structural and functional properties. Our findings reveal that these networks share a conserved architecture across different ca [...]

666 2723

Open Access Case Report

Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder

Received: 05 June 2025;  Published: 15 September 2025;  doi: 10.21926/obm.genet.2503311

Abstract

Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), and atopic diathesis, often mimicking other inflammatory dermatoses. We report a 9-month-old Javanese Indonesian male infant presenting with extensive erythematous, scaly skin lesions and severe pruritus. Laboratory tests revealed [...]

630 3117

Open Access Original Research

Association of Dopamine D2 Receptor (DRD2) C939T and a Lack of Association of Tumor Necrosis Factor-β (TNF-β) +A252G Polymorphisms with Susceptibility to Migraine in A Northern Iranian Population

Received: 09 June 2025;  Published: 11 September 2025;  doi: 10.21926/obm.genet.2503310

Abstract

Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G and DRD2 C939T polymorphisms confer genetic susceptibility to migraine in a Northern Iranian case-control sample. In total, 151 migraineurs (105 with MO 46 with MA) and 144 healthy control subjects were included in this st [...]

1286 4051

Open Access Case Report

The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegia

Received: 30 November 2024;  Published: 04 September 2025;  doi: 10.21926/obm.genet.2503309

Abstract

Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, a Moldavian‑Ukrainian pedigree in which homozygous c.612C>G (p.Phe204Leu) in C1QBP causes autosomal‑recessive PEO in the absence of cardiomyopathy, thereby expanding the phenotypic spectrum of C1QBP‑related disease. W [...]

651 3431

Open Access Review

Plant-Derived Nanoparticles in Cancer Therapy: A Comprehensive Review of Recent Advances and Future Prospects

Received: 04 July 2025;  Published: 18 August 2025;  doi: 10.21926/obm.genet.2503308

Abstract

Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradability, and multifunctional therapy. In this review, we discussed the recent advancements in PDNPs for cancer therapy, including the green synthesis of PDNPs using phytochemical (flavonoids, terpenoids) reducing and cappin [...]

1449 7468

Open Access Review

Trends in Breast Cancer Epigenetics Research from 1993 to 2023: A Bibliometric Analysis

Received: 12 January 2025;  Published: 15 August 2025;  doi: 10.21926/obm.genet.2503307

Abstract

Breast cancer is a significant health problem. Epigenetic alterations that influence gene expression were implicated in breast cancer pathogenesis. Bibliometric analysis can be done to evaluate the existing literature and identify gaps and emerging trends. This bibliometric analysis aims to provide an overview of the current landscape of global breast cancer epigenetics research, identify existing networks of countries and authors’ keywords, and assess the association of a country’s socioeconomic indica [...]

745 4685

Open Access Original Research

Morpho-Biochemical Characterization and Genetic Analyses of the Traits of Mungbean Genotypes Confined with Yield Attributing Traits and Salinity Stress Tolerance

Received: 31 May 2025;  Published: 07 August 2025;  doi: 10.21926/obm.genet.2503306

Abstract

Low phenotypic and genotypic variability for yield-attributing traits and susceptibility to salinity stress are constraints of mungbean productivity. The objectives of the study are to phenotype a set of exotic mungbean genotypes for yield-attributing traits and salinity tolerance, as well as to conduct genetic analysis of these traits for efficient selection. Three consecutive experiments were conducted to fulfill these objectives. In the first experiment, 26 mungbean genotypes were evaluated for yield traits unde [...]

1140 5558

Open Access Original Research

Effects of Plastoquinone Derivative 10-(6'-Plastoquinonyl) Decyltriphenylphosphonium on Rice Seeds Grown under Complete Flooding Conditions

Received: 20 February 2025;  Published: 22 July 2025;  doi: 10.21926/obm.genet.2503305

Abstract

The present work aimed to study the effects of 10-(6'-plastoquinonyl) decyltriphenylphosphonium (SkQ1) on rice (Oryza sativa) plants germinating under flooding conditions. The influence of different concentrations of SkQ1 (mitochondria-targeted antioxidant) on resistance to complete flooding was assessed on rice seedlings of the Kuboyar variety. The total level of reactive oxygen species (ROS), H2O2-induced chemiluminescence, and gene expression of antioxidant enzymes (OsSODA (superoxide dismutase A), OsSODB (s [...]

727 3517

Open Access Review

Leveraging DNA Databases to Reconnect Families Separated by Conflicts and Humanitarian Crises

Received: 14 May 2025;  Published: 15 July 2025;  doi: 10.21926/obm.genet.2503304

Abstract

Ongoing global conflicts and humanitarian crises have led to unprecedented displacement, including millions of separated children, many of whom, especially infants, cannot be traced using traditional methods. This paper advocates for the establishment of a voluntary, privacy-protected global DNA database, managed by an extra-governmental entity, to facilitate family reunification. It presents a comprehensive socio-technical framework that synthesizes a novel operational model with the requisite legal and ethical sa [...]

958 4858

Open Access Original Research

Impact of Normalization Methods on Metagenomic Characterization of Amaranthus Cruenthus var. Pribina-Associated Microbiomes Under Cadmium Stress

Received: 17 January 2025;  Published: 15 July 2025;  doi: 10.21926/obm.genet.2503303

Abstract

The study of endophytic and rhizosphere microbiota offers considerable potential for applications in agriculture, biotechnology, and bioremediation, given the phytoremediation capacity of Amaranthus cruentus var. Pribina performed a detailed analysis of the root and rhizosphere microbial communities under cadmium (Cd) stress. Although metagenomics provides powerful tools for microbial community profiling, the reproducibility and interpretability of the results are strongly influenced by the data processing strategi [...]

1033 3805

Open Access Original Research

Evaluation of Polylocus Spectra of DNA Fragments of the Genus Eguus Using ISSR-PCR Markers

Received: 16 April 2025;  Published: 07 July 2025;  doi: 10.21926/obm.genet.2503302

Abstract

Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of breeds and species of farm animals. The aim of the study is to study the molecular genetic component and phylogenetic relationships in the aboriginal Hutsul horse breed and fossil remains of ancient horses using ISSR-PCR markers. The polymorp [...]

709 3422

Open Access Original Research

Serum Shock Enhances Endogenous Melatonin Production and Mitochondrial Gene Regulation in U87-MG Glioblastoma Cells

Received: 14 March 2025;  Published: 07 July 2025;  doi: 10.21926/obm.genet.2503301

Abstract

Glioblastoma (GBM) is the most aggressive primary brain tumor, with a poor prognosis despite advancements in understanding its biology. Melatonin, a key regulator of metabolism and cellular homeostasis, is known for its neuroprotective and anti-cancer properties. While traditionally linked to pineal gland secretion, emerging evidence suggests that glioblastoma cells can produce melatonin within their mitochondria. This study investigates whether serum shock can influence endogenous melatonin production and mitochon [...]

971 4286

Open Access Original Research

Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndrome

Received: 05 October 2024;  Published: 03 July 2025;  doi: 10.21926/obm.genet.2503300

Abstract

To investigate the potential impact of the additional chromosome 21 on the gut microbiome in patients with Down syndrome (DS), two monozygotic (MZ) and two dizygotic (DZ) twin pairs discordant for DS were studied. Whole-genome shotgun sequencing was conducted to analyze the taxonomic and functional profiles of the gut microbial community in the twins and assess whether the gut microbiome composition influences the development of psychological pathologies. Sequencing generated a total of 2,338,132 reads, combined ac [...]

686 4151

Open Access Original Research

The Identification and Classification of Novel Genetic Variants in the MCPH1 Gene Suggest Association with Non-Syndromic Hearing Impairment

Received: 16 January 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502299

Abstract

Human mouse orthologous hearing impairment genes were investigated in African patients for causal variants. A homozygous mutation in exon 13 of the microcephalin1 (MCPH1) gene, which encodes the BRCA1-carboxyl terminal 2 domain (BRCT2), was reported in non-syndromic hearing impairment (NSHI). The present study aims to investigate further the emerging roles of MCPH1 in the genetics of NSHI in African patients in the new and larger cohorts. This study screened multiplex families and isolated cases, including 90 patie [...]

747 3814

Open Access Original Research

A New Database on Constitutional Human Ring Chromosomes

Received: 20 April 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502298

Abstract

Human ring chromosomes (RCs) constitute one of the rarest described inborn chromosomal rearrangements. At first, they seem to be just another subgroup of structural chromosomal aberrations like translocations, inversions, or insertions. However, RCs are more complex, as they almost always occur in conjunction with a mosaic karyotype constitution, resulting in mosaic monosomy of the affected chromosome. Most likely due to the latter effect, a genotype-phenotype correlation is still not available. To proceed with sol [...]

663 4606

Open Access Case Report

Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical Observation

Received: 06 April 2025;  Published: 24 June 2025;  doi: 10.21926/obm.genet.2502297

Abstract

We report the case of a 3-year-old girl from a consanguineous marriage, initially diagnosed with vitamin D deficiency–associated periodontitis following early tooth mobility. Despite supplementation, her condition worsened with the onset of palmoplantar hyperkeratosis. Further investigations revealed the diagnosis of Papillon-Lefèvre Syndrome (PLS), a rare genetic disorder causing severe periodontitis and palmoplantar keratosis. The patient was managed with vitamin D supplementation, dental extractions, and a remov [...]

683 4477

Open Access Original Research

Reciprocal Translocations in Prenatal Diagnosis: Latin America Data

by Luis A. Méndez-Rosado  , Luis A. Sotillo-Bent  , José Sotillo-Lindo  , Anduriña Barrios-Martínez  , Dulce Hechavarria-Estenoz  , Margarita Mayeta  , Jose Hernández-Gil  , Hector Pimentel-Benitez  , Maria Elena de la Torre  , Hibo Moreno  , Pedro Díaz-Véliz  , Alicia Vaglio  , Roberto Quadrelli  , Diana Sánchez-Peñarate  , Mabel Cerrillo-Hinojosa  , Pedro Carbonell-de la Torre  , Judith Pupo-Balboa  , Michel Soriano-Torres  , Marilyn del Sol  , Arlay Castelvi  , Enny Morales  , Damarys García  , Rocío Serrano-Hidalgo  , Catalina Obando  , Liz Pardo  , Laritza del Toro  , Miladys Martinez  , Conrado Uria-Gómez  , Maria G Arteaga Ontiveros  , Mayte Castro  , Odalys Rabelo  , Sahily Miñoso  , Deysi Licourt  , Irenia Blanco  , Roberto Lardoeyt-Ferrer  , Nereida Gonzalez  and Olga Quiñones-Masa
Received: 24 November 2024;  Published: 10 June 2025;  doi: 10.21926/obm.genet.2502296

Abstract

Generally, in reciprocal translocations there are no gains or losses of genetic material. From the clinical point of view, its primary importance lies in the fact that it can generate errors due to incorrect chromosome segregation during meiosis in carriers. On the other hand, other mutations are less frequent in the genome, specifically in the DNA breakpoints implied in these translocations. In Latin America there are no large-scale reports about this topic. To contribute to the study of reciprocal translocations [...]

1170 6232

Open Access Original Research

In Silico Evaluation of Anti-SARS-CoV-2 Bioactive Compounds from Jatropha curcas

Received: 12 March 2025;  Published: 25 May 2025;  doi: 10.21926/obm.genet.2502295

Abstract

Jatropha curcas L., a medicinal shrub renowned for its diverse phytochemicals, has been traditionally used to treat various ailments, including ulcers, neoplasms, and dermatological conditions. Despite its pharmacological promise, its potential against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) remains unexplored. This study investigates the antiviral efficacy of J. curcas phytochemicals targeting the SARS-CoV-2 main protease (Mpro), a critical enzyme for viral replication, using advanced computat [...]

1071 5787

Open Access Case Report

Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the KMT2D Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorder

Received: 16 January 2025;  Published: 21 May 2025;  doi: 10.21926/obm.genet.2502294

Abstract

Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intellectual disability, and dermatoglyphic abnormalities. We analyzed two unrelated Iranian patients suspected of having KS using whole-exome sequencing. An in silico analysis was performed to evaluate the potential effects of the discovered variants on the structure and function of t [...]

1036 6015

Open Access Review

The Roles of IL-6, IL-8, and TNF-α in Pediatric Immune Defense and Infection Severity

Received: 12 December 2024;  Published: 23 April 2025;  doi: 10.21926/obm.genet.2502293

Abstract

Cytokines are pivotal regulators of immune responses. They are critical in mediating inflammation, recruiting immune cells, and driving pathogen clearance. Among these, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-α) stand out as key players in pediatric immunity, as they exhibit unique expression patterns that reflect the dynamic nature of the developing immune system. This review explores the dual roles of these cytokines in orchestrating immune defense and their potential as d [...]

1223 9905

Open Access Review

Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materials

Received: 18 December 2024;  Published: 15 April 2025;  doi: 10.21926/obm.genet.2502292

Abstract

Oil palm is the most productive vegetable oil crop compared to other oil-bearing crops because it produces the highest oil yield per hectare. Palm oil is very versatile since it is used for producing food and beverages, personal care and cosmetics, cleaning products, biofuel, and bioenergy. To cater to the increasing demand in the global palm oil market, much research has been done to improve the oil's yield and modify its quality in addition to the oil palm height through breeding. Due to its long breeding cyc [...]

1968 15502

Open Access Case Report

Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review

Received: 22 November 2024;  Published: 14 April 2025;  doi: 10.21926/obm.genet.2502291

Abstract

Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes the alpha chain of type XVIII collagen. This type of collagen functions as a proteoglycan, predominantly located in the basement membrane of human tissues. This study examined an Iranian female presenting with symptoms of horizontal nystagmus, strabismus, and suspected vision loss, with a [...]

958 5739

Open Access Case Report

Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case Report

Received: 19 March 2024;  Published: 03 April 2025;  doi: 10.21926/obm.genet.2502290

Abstract

X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe, through an 8-year follow-up case report, the clinical approach adopted in managing dental features in both primary and permanent dentition in a child diagnosed with XLHR. The oral manifestations were mainly premature e [...]

756 3871

Open Access Review

Diagnosis of Infectious Diseases by CRISPR/Cas System

Received: 18 November 2024;  Published: 01 April 2025;  doi: 10.21926/obm.genet.2502289

Abstract

Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas system is used as a tool for the rapid diagnosis of infectious diseases and their treatment and the prevention of infection spread among people. The CRISPR-based diagnostic system could be the next-generation standard beca [...]

1446 18909

Open Access Original Research

Investigating Interest in Cancer Predisposition Testing and Expanded Carrier Screening in Routine Gynecologic Care among Pregnancy Capable Individuals

Received: 28 May 2024;  Published: 25 March 2025;  doi: 10.21926/obm.genet.2501288

Abstract

The goal of this qualitative study was to explore pregnancy capable individuals’ perceptions of having cancer predisposition testing (CPT) and/or expanded carrier screening (ECS) during routine gynecologic care and how these perceptions differ across individuals. A thematic analysis was conducted based on qualitative data from 26 semi-structured interviews with women between 20 and 35 years of age at a single academic health center in the Mountain West of United States. The analysis indicated that participants’ int [...]

1082 4505

Open Access Original Research

Potential CRISPR-Cas9-based Antiviral Activity Against Hepatitis C Virus in Liver Cancer

Received: 04 July 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501287

Abstract

Hepatitis C virus (HCV) is a primary global health concern, and though therapeutic options have improved, no very effective vaccine is available despite decades of research. The health and vitality of the organism are related to the result of homeostatic regulation of the internal environment. In contrast, it follows that disruption of homeostatic mechanisms leads to disease, particularly in liver cancer. Since HCV can rapidly mutate to evade the immune response, an effective HCV vaccine must rely on the identifica [...]

1143 5434

Open Access Research Article

Inheritance Studies of Root-Knot Nematode (Meloidogyne Species) Resistance in Tomato (Solanum Lycopersicum L.)

Received: 22 August 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501286

Abstract

Plant-parasitic nematodes threaten tomato cultivation in Ghana, particularly the root-knot nematodes, causing substantial economic yield losses. However, these yield losses can be prevented through resistant varieties. This study aims to determine the type of gene action, heritability, heterosis and inbreeding depression for root-knot nematode resistance in tomato. A cross between CSIR/CRI-P005 (P1), an adapted variety with good yield but susceptible to root-knot nematode and VFNT (P2), which is resistant to root-k [...]

787 4990

Open Access Case Report

When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesia

Received: 30 December 2024;  Published: 14 February 2025;  doi: 10.21926/obm.genet.2501285

Abstract

DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two cases of DiGeorge syndrome, each demonstrating a different combination of clinical phenotypes. Two girls (2 years-3 months old and 2 years-2 months old) were diagnosed with 22q11.2DS following chromosomal microarray anal [...]

827 8291

Open Access Case Report

Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case Report

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Abstract

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

1318 7010

Open Access Original Research

Clinical and Molecular Profile of Dystrophin Gene Deletions in Eastern Morocco

Received: 04 October 2024;  Published: 04 February 2025;  doi: 10.21926/obm.genet.2501283

Abstract

Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our study aims to determine the molecular profile and genotype/phenotype correlations of dystrophinopathies in the eastern region of Morocco. We report patients referred for 4 years (2020-2023) to the Medical Genetics Laboratory of the Mohammed VI U [...]

906 5801

Open Access Case Report

Maternally Derived Complex Small Supernumerary Marker Chromosome 22 Associated with Cat-Eye Syndrome Like Features

Received: 14 October 2024;  Published: 27 January 2025;  doi: 10.21926/obm.genet.2501282

Abstract

Cat-eye syndrome (CES) is a rare genetic disease first reported in 1965. The estimated prevalence of CES is 1:50,000 to 1:150,000, and it is typically associated with an inverted duplicated small supernumerary marker chromosome (sSMC) derived from chromosome 22. The specific chromosomal band involved in CES causing partial tetrasomy is 22q11.21, where chromosomal rearrangements occur due to the presence of low-copy repeats (LCR22). The phenotype of CES is extremely diverse, ranging from normal to multiple abnormali [...]

1035 5526

Open Access Case Report

A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin Therapy

Received: 28 October 2024;  Published: 08 January 2025;  doi: 10.21926/obm.genet.2501281

Abstract

Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales covers the entire body. Affected newborns have abnormal facial features, such as ectropion, eclabium, and ears and nose flattening. Although HI was formerly assumed to be fatal, more intensive neonatal care and early retinoid therapy may imp [...]

2738 15088

Open Access Review

Gene Therapy Strategies for Muscular Dystrophies: Current Insights and Future Directions

Received: 04 September 2024;  Published: 08 January 2025;  doi: 10.21926/obm.genet.2501280

Abstract

Gene therapy, a groundbreaking method for addressing genetic mutations, includes strategies such as gene repair, replacement, inactivation, or the introduction of therapeutic genes, circumventing traditional surgical or pharmacological approaches. Delivery through viral or non-viral vectors presents trade-offs in efficiency and immune response. Recent gene-editing technologies like ZFNs, TALENs, and CRISPR facilitate precise genome modifications by inducing targeted double-strand breaks, with CRISPR/Cas9 recognized [...]

1385 20026

Open Access Research Article

Effects of Coenzyme Q10 on H2O2-Induced Oxidative Stress of Human Keratinocytes

Received: 05 July 2024;  Published: 06 January 2025;  doi: 10.21926/obm.genet.2501279

Abstract

Keratinocytes are particularly vulnerable to oxidative stress due to their function as the primary natural protective barrier exposed to chemicals, rays, and pollution to stimulate the formation of free radicals in the body. Two factors of interest correlate with cellular senescence under oxidative stress. These include regulating antioxidant synthesis, which maintains free-radical homeostasis through the Nrf2 gene, and the prevention of telomere shortening, which involves the collaboration of human telomerase gene [...]

1363 8148

Open Access Original Research

Comparison of Heavy Metal and Disinfectant Resistance of S. aureus and Enterococcus Isolates with Antibiotic Resistance Profiles

Received: 31 July 2024;  Published: 05 January 2025;  doi: 10.21926/obm.genet.2501278

Abstract

Antimicrobial resistance is one of the most significant threats to our present and future. Recently, it has been suggested that antibiotic-resistant microorganisms also exhibit resistance to heavy metals and disinfectants, and these resistance profiles may interact with each other. Microorganisms can be exposed to heavy metals and disinfectants in different ways in various environments. They are especially likely to be exposed to quaternary ammonium compounds used in the food industry or heavy metals due to tap wat [...]

1459 6852

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2024

Received: 03 January 2025;  Published: 03 January 2025;  doi: 10.21926/obm.genet.2501277

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2024. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web of Sci [...]

633 2791

Open Access Review

Role of Genomics in Neonatal Care and Research—A Narrative Review

Received: 07 April 2024;  Published: 20 December 2024;  doi: 10.21926/obm.genet.2404276

Abstract

There is a high prevalence of genetic abnormalities that significantly contribute to overall morbidity and mortality in neonates. Since early diagnosis is crucial for the optimal administration of conventional and customized medications, neonatal acute care has the most significant potential to benefit from genomic medicine. Genome sequencing has been demonstrated to have diagnostic, therapeutic and informational value in many investigations. With underlying genetic disorders, genome sequencing has the power to cha [...]

1007 6477

Open Access Review

A Systematic Review on the Role of SnRK2 Gene in Arabidopsis thaliana Growth Stages under Abiotic Stresses

Received: 29 August 2024;  Published: 17 December 2024;  doi: 10.21926/obm.genet.2404275

Abstract

This systematic review examines the role of SnRK2 (Sucrose non-fermenting 1-Related protein Kinase 2) genes in Arabidopsis thaliana growth and responses to abiotic stresses. SnRK2 protein kinases are key components of abscisic acid (ABA) signaling and osmotic stress responses in plants. The review synthesizes findings from numerous studies on how different SnRK2 genes regulate Arabidopsis growth, development, and stress tolerance at various life stages. Key topics covered include SnRK2 functions under environmental [...]

1745 10962

Open Access Review

Molecular Markers Used to Reveal Genetic Diversity and Phylogenetic Relationships in Crop Plants

Received: 16 June 2024;  Published: 12 December 2024;  doi: 10.21926/obm.genet.2404274

Abstract

Genetic diversity allows plants to adapt to changing environmental conditions to survive and increases their ability to respond to yield, production, pests and diseases. The application of molecular markers developed due to developments in biochemistry, molecular biology, and plant technology has shed light on plant genetics and breeding studies and produced an enormous amount of knowledge. The theoretical knowledge will guide in determining the scope, amount, and distribution of different aspects of genetic divers [...]

1577 16858

Open Access Communication

Important Guide for Natural Compounds Inclusion in Precision Medicine

Received: 25 April 2024;  Published: 06 December 2024;  doi: 10.21926/obm.genet.2404273

Abstract

Precision medicine describes the definition of disease at a higher resolution by genomic and other technologies to enable more precise targeting of disease subgroups with new therapies. Preventative or therapeutic interventions can be developed with the knowledge of how a compound acts safely in the body to target receptors and produce the desirable effect. With the completion of the Human Genome Project in 2003 and the rapid increase in sequencing and bioinformatics tools, obtaining information about a person's ge [...]

948 5050

Open Access Review

Epstein-Barr Virus and Helicobacter pylori as Two Main Risk Factors in Gastric Cancer

Received: 21 June 2024;  Published: 20 November 2024;  doi: 10.21926/obm.genet.2404272

Abstract

Microbial and viral pathogens have emerged as key contributors to cancer development. Research conducted in the last twenty years has significantly enhanced our comprehension of the cancer-causing capabilities of infectious agents. An illustrative instance is gastric cancer (GC), which is closely associated with Helicobacter pylori (H. pylori) and Epstein-Barr virus (EBV) infections, with approximately 90% of non-cardia GC cases attributed to H. pylori infection and around 10% linked to EBV. Despite significant res [...]

1676 9169

Open Access Research Article

External Validation and Modification of a New Score for Predicting Mortality in Patients with COVID-19 in High Altitude Patients. A Peruvian Study

Received: 07 December 2022;  Published: 20 November 2024;  doi: 10.21926/obm.genet.2404271

Abstract

This study aims to validate two predictive mortality scores for patients with COVID-19 to support clinical decision-making in those who require hospitalization. The tomographic patterns found can be added to the original scores to increase their predictive power. Retrospective, analytical, observational, and cross-sectional studies were carried out in two phases. 489 medical records of patients with COVID-19 hospitalized at “Daniel A. Carrión” Hospital in Huancayo (located at 3,250 meters above sea level) were revi [...]

650 3990

Open Access Research Article

Phenotypic Characterization of Advanced Breeding Lines of Rice (Oryza sativa L.) for Drought and Low Phosphorus Stress Tolerance

Received: 02 August 2024;  Published: 01 November 2024;  doi: 10.21926/obm.genet.2404270

Abstract

Drought and phosphorus (P) deficiency stress are two significant natural abiotic stresses restricting rice growth and yield worldwide. Developing rice varieties tolerant to drought and low P stress is crucial for sustainable agricultural production. To address these issues, two separate experiments were conducted using selected advanced rice breeding lines to study the impact of drought and low P stress on yield-attributing traits. The first experiment evaluated the drought stress tolerance of five advanced lines ( [...]

1391 8610

Open Access Original Research

Cytogenetic and ISSR-Markers Polymorphism in the Population of Local Ukrainian Lebedyn Cows

Received: 18 June 2024;  Published: 31 October 2024;  doi: 10.21926/obm.genet.2404269

Abstract

The preservation of the fund of local breeds of agricultural animals, which are breeding materials for the creation of new ones and the improvement of existing ones, meets the FAO requirements, which are the protection of biological diversity. The study of the genetic structure of cows of the local Lebedyn breed, which was bred in Ukraine, using cytogenetic and molecular genetic methods, is aimed at establishing information about the structure of the gene pool of these animals and the uniqueness of their genotype. [...]

668 3848

Open Access Original Research

Synergistic Effect of Resveratrol and Paclitaxel in the Treatment of Malignant Pleural Mesothelioma

Received: 11 June 2024;  Published: 18 October 2024;  doi: 10.21926/obm.genet.2404268

Abstract

Malignant pleural mesothelioma (MPM) is a lethal and aggressive cancer due to exposure to asbestos since this carcinogen is still being used in industrial buildings and housing in several countries. Untreated MPM has a median survival time of 12 months, and most people die within 24 months after diagnosis. If caught early, surgery may be performed. Treatment option for palliative care is limited using platinum with pemetrexed. Malignant transformation of a cell is attributed to a series of genetic and epigenetic ev [...]

952 5587

Open Access Original Research

Effect of Drought Stress on Agronomic Traits and Total Leaf Proteins in Different Bottle Gourd [Lagenaria siceraria (Molina) Standl.] Genotypes

Received: 16 July 2024;  Published: 16 October 2024;  doi: 10.21926/obm.genet.2404267

Abstract

Breeding drought-tolerant genotypes using genetic and biochemical tools is an important mitigation strategy to improve stress response and yields in bottle gourd [Lagenaria siceraria (Molina) Standl.]. This current study evaluated the variations among bottle gourd genotypes for potential breeding purposes by establishing the relationship between agronomic traits and the protein profile required for the plants’ resilience against drought stress. The study assessed 12 bottle gourd accessions grown under non-str [...]

1077 4749

Open Access Case Report

Novel FLNC Gene Variant Associated with Hypertrophic Cardiomyopathy

Received: 13 August 2024;  Published: 12 October 2024;  doi: 10.21926/obm.genet.2404266

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting approximately 1 in 500 people. It is the most common genetic cardiomyopathy inherited as a Mendelian trait in approximately 50% of patients, mainly due to pathogenic variants in genes encoding sarcomeric proteins. Mutations in the sarcomeric protein filamin C (FLNC) gene, with a cytogenetic localization on 7q32.1, have been linked to hypertrophic cardiomyopathy, as they have been determined to increase the risk of ventricular a [...]

1043 5816

Open Access Review

Status of Azoospermia in Saudi Arabia: A Retrospective Narrative Mini-Review

Received: 19 April 2024;  Published: 30 September 2024;  doi: 10.21926/obm.genet.2403265

Abstract

The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saudi Arabia. This study included all published studies written in English that were published in Saudi Arabia. Online searches via PubMed and Google Scholar were conducted from their inception to 15 January 2023. A total of 624 studies [...]

1071 11980

Open Access Original Research

Polyploidy Induction by Sodium Azide and Ethyl Methane Sulfonate in Grape Genotypes

Received: 03 June 2024;  Published: 27 September 2024;  doi: 10.21926/obm.genet.2403264

Abstract

Continuous improvement of vine rootstocks and grape varieties is necessary for the sustainability of viticulture. In this context, grapevine breeding and especially the development of polyploid grapevine genotypes offer opportunities. This study investigated the effectiveness of sodium azide (SA, five dozes and two treatment duration) and ethyl methane sulfonate (EMS, four dozes and two treatment duration) in inducing polyploidy. In Ekşi Kara and Gök Üzüm grape cultivars and 41B and Fercal grapevine rootstocks, dif [...]

1008 5089

Open Access Original Research

DNA-Based Variability of Length Polymorphism of Plant Allergens Coding Genes Homologs in Selected Lamiaceae Herbs

Received: 21 May 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403263

Abstract

Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the variability of plant genes that code for allergens - BBAP (Bet v 1-Based Amplicon Polymorphism) and PBAP (Profilin-Based Amplicon Polymorphism). Variability of Bet v 1 homologues within individual genomes showed similari [...]

661 4213

Open Access Case Report

Becker Phenotype Muscular Dystrophy in a Man with Klinefelter Syndrome: A Rare Association

Received: 08 July 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403262

Abstract

To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he had a clinical and muscle biopsy diagnosis of muscular dystrophy, possibly type Becker. His physical examination showed severe weakness of the pelvic and shoulder girdle, with a waddling gait, grade II scoliosis associated with tall height, [...]

784 4842

Open Access Review

Clinical Features, Genetic Landscape and Management of Behçet's Syndrome: A Comprehensive Review

Received: 25 June 2024;  Published: 19 September 2024;  doi: 10.21926/obm.genet.2403261

Abstract

Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnostic tests. Management requires a multidisciplinary approach to control inflammation and alleviate symptoms, utilizing treatments like corticosteroids, immunosuppressive agents, and biological therapies. The higher preval [...]

753 8656

Open Access Review

Molecular Marker Applications in the Selection of Elite Genotypes for Plant Stress Tolerance and Genetic Fidelity

Received: 17 May 2024;  Published: 02 September 2024;  doi: 10.21926/obm.genet.2403260

Abstract

Molecular markers play a crucial role in accelerating crop production for sustainable agriculture by identifying resistant traits and enhancing genetic diversity. In this review, we examine the impact of the molecular markers on advancing our understanding of stress tolerance mechanisms in plants, addressing the pressing imperative to bolster global food production to meet the escalating demands of the growing population. Additionally, the application of molecular markers to evaluate the genetic accuracy of plants [...]

1374 9880

Open Access Case Report

Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review

Received: 02 April 2024;  Published: 30 August 2024;  doi: 10.21926/obm.genet.2403259

Abstract

6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal microarray and confirmed by fluor [...]

1267 6247

Open Access Book Review

Case Studies in the Ethics of Assisted Reproduction, by Louise P. King & Isabelle C. Band, Switzerland: Springer Cham, 152 Pages, Ebook, 978-3-031-41215-8

Received: 12 June 2024;  Published: 21 August 2024;  doi: 10.21926/obm.genet.2403258

Abstract

"Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving law, bioethics, reproductive endocrinology, and reproductive biology. Using case studies, the findings address ethical challenges in ART practice, such as the transf [...]

1594 7282

Open Access Case Report

A Child Carrying a Large Deletion in the 10p.15.3-p12.31 Region

Received: 01 June 2024;  Published: 20 August 2024;  doi: 10.21926/obm.genet.2403257

Abstract

Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-banded analysis. A chro [...]

886 6559

Open Access Review

Phenylketonuria—Past, Present, and Future Directions

Received: 12 May 2024;  Published: 16 August 2024;  doi: 10.21926/obm.genet.2403256

Abstract

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine (Phe), that can reach toxic levels in the blood. PKU is managed with a medical diet and sometimes with medication. If diagnosed early and with strict dietary control, neurocognitive deficits can be prevented. There is an important [...]

2142 32779

Open Access Original Research

Miscarriages after Natural Conception & IVF: Comparative Study of Genetic Analysis of Products of Conception

Received: 30 April 2024;  Published: 05 August 2024;  doi: 10.21926/obm.genet.2403255

Abstract

Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is chromosomal abnormalities (CA) of the embryo. To compare the frequency and structure of chromosomal abnormalities (CA) of the embryo during miscarriages after IVF and natural conception. Retrospective cohort comparative study. The s [...]

934 6899

Open Access Review

Exploring Multitargets Treatment for Diabetes

Received: 17 February 2024;  Published: 30 July 2024;  doi: 10.21926/obm.genet.2403254

Abstract

Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. This review aimed to explore the multi-target treatment for diabetes. This study investigates explicitly recent reports published in peer-reviewed journals indexed in various databases, including Web of Science, Scopus, PubMed, Google [...]

686 4812

Open Access Review

Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic Leukemia

Received: 08 February 2024;  Published: 19 July 2024;  doi: 10.21926/obm.genet.2403253

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 [...]

994 6219

Open Access Review

Potential Use of Human Mesenchymal Stem Cells (hMSCs) in Pancreatic Damage/Cancer

Received: 13 March 2024;  Published: 17 July 2024;  doi: 10.21926/obm.genet.2403252

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 dis [...]

954 6561

Open Access Editorial

The Intersection of Nutrigenetics, Nutrigenomics, and the Microbiome in Human Health

Received: 03 July 2024;  Published: 10 July 2024;  doi: 10.21926/obm.genet.2403251

1243 6220

Open Access Short Review

A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and Treatment

Received: 27 January 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403250

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularly for neurological patients with motor and verbal impairments. This narrative review aimed to evaluate studies conducted on the use of ETT to improve cognitive abilities in girls with RTT [...]

1138 8631

Open Access Review

Causes of Chromosome Breakage and Mis-segregation Affecting Pregnancy and Newborn Health: An Insight into Developing Reproductive Health Preventive Strategies

Received: 19 February 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403249

Abstract

Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for developing effective preventive strategies to improve reproductive health. This paper aims to review the known causes of chromosome breakage and mis-segregation, emphasizing their impact on pregnancy and newborn health. It further explor [...]

1348 10039

Open Access Review

Hormonal and Physiological Manipulation Methods to Induce Polycystic Ovary in Rodents: A Review of the New Findings

Received: 06 February 2024;  Published: 04 July 2024;  doi: 10.21926/obm.genet.2403248

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex hormone-binding globulin (SHBG) compared with healthy counterparts. Because of the limitations of human studies, animal models of PCOS have been developed to identify appropriate therapeutics and to explore their mechanism [...]

1243 9526

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, dysmorphic features, and feeding difficul [...]

945 6014

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 conducted to understand t [...]

2006 14448

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 inhibitor of PTP-1B that indicates selectivity over several protein tyrosine phosphatases. In this research, the interaction between the anti-diabetic drug [...]

1031 4811

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 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 [...]

1481 9270

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 user-friendliness and integrating all-purpose functionalities, including sample preparation, mode [...]

1088 7960

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. Therefore, clearing [...]

1102 8011

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 shows that, on the one [...]

954 4570

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;22)(q23.3;q11.21) and der(X)t(X; Y)(p22. [...]

969 4651

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 achieving 99% coverage comp [...]

2128 8203

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 innovation, it simult [...]

2613 18675

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 offering therapeutic [...]

1631 10196

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 development and progression. [...]

1171 7918

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-generation RNA sequencing aimed to unrav [...]

1763 8266

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, medical treatment successfully prevent [...]

1031 6178

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 effects are influen [...]

3232 34162

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 factor that reduces a [...]

2513 22265

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. Subsequently, disease distribution and severity, percentage of infection and susceptibility of different garlic genotypes to rust disease were investigated. The results showed that gen [...]

1270 6353

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 oxygen species is e [...]

1335 9153

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 reports a low photoprotect [...]

1021 5940

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. Examples include spina [...]

1186 5522

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. Consequently, nsSNPs have the potential to [...]

1084 7249

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 2021 were reviewed. The mean a [...]

958 4792

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- and B genomes), focusing on methods for their identification. T. monococcum is characterized by 37 alleles at the Glu-1 locus versus fou [...]

1362 6772

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.'

807 3960

Open Access Short Report

X Ray-Induced Insulinoma Cell Line Rin-5F Has a Novel Mutation Site, C.A1459G (P.T487A), in Death Domain Associated Protein (DAXX) Gene

Received: 05 January 2024;  Published: 19 March 2024;  doi: 10.21926/obm.genet.2401223

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) [...]

853 4384

Open Access Original Research

Preimplantation Genetic Testing: Personal Views Regarding the Invasiveness of Trophectoderm Biopsy and Risks on Embryos Development “An Operators Survey”

Received: 02 January 2024;  Published: 07 March 2024;  doi: 10.21926/obm.genet.2401222

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 e [...]

1053 10649

Open Access Review

A Review on Male Infertility and Herbal Medicine: Complementary and Alternative Therapies in Animal Models

Received: 27 September 2023;  Published: 06 March 2024;  doi: 10.21926/obm.genet.2401221

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 fro [...]

2032 14617

Open Access Case Report

Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1

Received: 30 December 2023;  Published: 05 March 2024;  doi: 10.21926/obm.genet.2401220

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 [...]

1179 6579

Open Access Review

Challenges and Opportunities of Gene Therapy in Cancer

Received: 07 October 2023;  Published: 04 March 2024;  doi: 10.21926/obm.genet.2401219

Abstract

Gene therapy involves either the direct introduction of genetic material (DNA or RNA) into the host cell (or organ), known as in vivo gene therapy, the re-introduction of the modified target cells taken out of the host, or ex vivo gene therapy. Cancer is mainly caused by the non-functioning of genes required for normal cell proliferation, and it has emerged as the leading cause of death globally due to the absence of efficient and safe therapies as well as early diagnostic modalities. Therapeutic trials using gene [...]

2548 27641

Open Access Case Report

The Jacobs Syndrome: Clinical Case

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218

Abstract

This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the presence of Y-chromosome dysomy is [...]

1392 8769

Open Access Research Article

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mot [...]

1358 10369

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