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Table of Content

Open Access Original Research

Clinical Variabilities of PTPN11 Pathogenic Variant in Indonesian Noonan Syndrome Patients

Received: 08 January 2026;  Published: 06 May 2026;  doi: 10.21926/obm.genet.2602338

Abstract

Noonan syndrome (NS) is an autosomal dominant disorder with a wide spectrum of symptoms and clinical phenotypes, including short stature, congenital heart defects (CHD), and distinctive facial features. A pathogenic variant in the PTPN11 gene is the major cause of NS. This is a pr [...]

74 290

Open Access Review

Climate Change-Induced Stress and Neural Plasticity: Genetic and Epigenetic Mechanisms of Adaptation

Received: 09 January 2026;  Published: 15 April 2026;  doi: 10.21926/obm.genet.2602337

Abstract

Changes in the environment driven by climate change are becoming significant stressors that impact brain function, but the connections between these changes and neural plasticity remain unclear. This review aims to offer a comprehensive synthesis of the impact of climate-related stressors on neural [...]

274 1246

Open Access Case Report

A Novel Missense Variant in the CDH23 Gene is Segregated in an Iranian Family with Hearing Loss

Received: 25 November 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602336

Abstract

Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-synd [...]

140 551

Open Access Case Report

A Case of Prenatal Diagnosis of Apert Syndrome in the Second Trimester of Pregnancy

Received: 12 September 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602335

Abstract

Craniosynostosis is a disorder characterized by premature closure of cranial sutures, resulting in restricted skull growth perpendicular to the affected suture and compensatory growth in other directions. Over 180 syndromes have been classified under craniosynostosis, of which eight are associated w [...]

159 560

Open Access Original Research

Complete Chloroplast Genome of Rauvolfia tetraphylla (Gentianales: Apocynaceae) and Phylogenetic Analysis

Received: 15 January 2026;  Published: 07 April 2026;  doi: 10.21926/obm.genet.2602334

Abstract

Rauvolfia tetraphylla L. (1753) is an important medicinal species of Apocynaceae, widely used for its rich indole alkaloids and related bioactive compounds. We report the first complete chloroplast genome of R. tetraphylla. The genome exhibits a typical circ [...]

259 765

Open Access Original Research

Comprehensive Cytogenetic and ISSR Analysis in the Context of Conservation of the Local Breed of Brown Carpathian Cattle Breed

Received: 01 December 2025;  Published: 01 April 2026;  doi: 10.21926/obm.genet.2602333

Abstract

The article reveals the variability of the genome of cattle of the local small-numbered domestic Brown Carpathian breed using cytogenetic and molecular genetic polylocus markers, and justifies the need to integrate local breeds into the modern system of agricultural production in accordance with FAO [...]

194 739

Open Access Review

Challenges and Ethical Issues Related to Non-Invasive Prenatal Testing (NIPT)

Received: 21 January 2026;  Published: 26 March 2026;  doi: 10.21926/obm.genet.2601332

Abstract

Non-invasive prenatal testing (NIPT) is now standard in prenatal care in many countries, even though it was introduced only about 15 years ago. Due to its rapid adoption into decades-old prenatal care plans, gynecologists, obstetricians, and the general public still struggle to understand the possib [...]

485 1791

Open Access Original Research

Assessment of Genetic Diversity and Polymorphism in Corylus avellana L. Pollen by Inter-Primer Binding Site Marker Analysis

Received: 26 December 2025;  Published: 23 March 2026;  doi: 10.21926/obm.genet.2601331

Abstract

Genetically conditioned variation in pollen has been demonstrated to have a substantial influence on reproductive mechanisms and population dynamics. The present study evaluated the genetic variability of 28 pollen samples of Corylus avellana L. using iPBS (Inter Primer Binding [...]

245 828

Open Access Original Research

Evaluation of Ten Bread Wheat (Triticum aestivum) Cultivars and Five of Their Hybrids under Salinity Stress at Germination and Seedling Stage

Received: 23 November 2025;  Published: 20 March 2026;  doi: 10.21926/obm.genet.2601330

Abstract

Salinity poses a danger to food security; hence, it is necessary to create crop types that can withstand salt to meet the growing demand for food. The goal of the current study was to examine the morphological and biochemical responses of wheat (Triticum aestivum L.) genotypes u [...]

235 923

Open Access Review

Insights from Stem Cell and CRISPR-Based Therapies for Diabetes Mellitus: A Systematic Review

Received: 27 November 2025;  Published: 17 March 2026;  doi: 10.21926/obm.genet.2601329

Abstract

Diabetes mellitus (DM) is a metabolic disorder resulting from aberrations in insulin secretion or action. Diabetes mellitus still presents as a global health challenge. Conventional diabetes treatment may result in unwanted side effects and/or poor compliance. More personalized and curative approach [...]

661 2752

Open Access Original Research

Determining the Role of KRAS in Patients with Different Demographic Profiles Diagnosed with Diabetes Mellitus: A Case-Control Study

Received: 06 December 2025;  Published: 15 March 2026;  doi: 10.21926/obm.genet.2601328

Abstract

Diabetes mellitus (DM) is widely spread among populations. About 3 of 10 people show the symptoms of this disease. Many factors may cause this illness in both types (type 1 and type 2 DM), mainly attributed to insufficient insulin production in type 1 DM or developing insulin resistance in type 2 DM [...]

274 849

Open Access Review

Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese Population

Received: 03 December 2025;  Published: 09 March 2026;  doi: 10.21926/obm.genet.2601327

Abstract

Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associat [...]

329 1162

Open Access Original Research

Analysis of Leukocyte Telomere Length in Brazilian People Living with HIV with and Without Cancer

Received: 31 May 2025;  Published: 04 February 2026;  doi: 10.21926/obm.genet.2601326

Abstract

Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood [...]

593 1360

Open Access Review

Stem Cell-Derived Exosomes: Non-Coding RNA Cargos for Reprogramming the Tumor Immune Microenvironment

Received: 10 October 2025;  Published: 14 January 2026;  doi: 10.21926/obm.genet.2601325

Abstract

Stem cell-derived exosomes (SDEs) have emerged as revolutionary mediators in cancer immunotherapy, offering unprecedented potential to reprogram the immunosuppressive tumor immune microenvironment (TIME). These nano-sized extracellular vesicles, laden with non-coding RNAs (ncRNAs), serve as natural [...]

719 2281

Open Access Original Research

Genetic Differentiation of Populations of Three Megalopolises by DNA Markers of the Y-Chromosome in Connection with the Problem of Developing Genetic Databases

Received: 04 June 2025;  Published: 12 January 2026;  doi: 10.21926/obm.genet.2601324

Abstract

The purpose of the study was to consider the distribution of Y-chromosome DNA markers in samples from the populations of the three largest megalopolises (Moscow, Saint Petersburg, and Novosibirsk) in the Russian Federation, in the context of developing genetic databases. The study aimed to compare t [...]

772 2663

Open Access Review

Genetic and Clinical Features of Tuberous Sclerosis Patients from the Republic of Bashkortostan

Received: 29 September 2025;  Published: 08 January 2026;  doi: 10.21926/obm.genet.2601323

Abstract

Tuberous sclerosis (TS) is one of the most common hereditary tumor syndromes, occurring with an average incidence of 1 in 9,000 newborns worldwide. The disease manifests itself through the development of tumors of the brain, kidneys, heart, lungs, and skin, along with characteristic depi [...]

578 1589

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2025

Received: 04 January 2026;  Published: 04 January 2026;  doi: 10.21926/obm.genet.2601322

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer c [...]

458 1134

Open Access Short Review

The Application of Next-Generation Sequencing in Leukemia

Received: 02 May 2025;  Published: 25 December 2025;  doi: 10.21926/obm.genet.2504321

Abstract

Leukemia is a heterogeneous group of hematologic malignancies characterized by the dysfunctional proliferation of white blood cells in the bone marrow. Genetic alterations are important risk factors for the development and progression of leukemia, and their detection is crucial. Although many geneti [...]

635 2319

Open Access Case Report

Diagnostic Challenges of Rothmund-Thomson Syndrome in Infancy: A Case Report from a Resource-Limited Setting

Received: 26 October 2025;  Published: 11 December 2025;  doi: 10.21926/obm.genet.2504320

Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by early-onset poikiloderma and multisystem abnormalities. Diagnosis is often confirmed through genetic testing, but in many resource-limited settings, molec [...]

695 1984

Open Access Original Research

Differential Expression of MiR-21 and MiR-19 in Biliary Atresia: Diagnostic Potential and Therapeutic Implications

Received: 24 May 2025;  Published: 26 November 2025;  doi: 10.21926/obm.genet.2504319

Abstract

Biliary atresia (BA), a severe pediatric liver disease of unknown etiology, causes neonatal jaundice, progressive cholestasis, and life-threatening liver fibrosis. Emerging evidence suggests microRNAs (miRNAs) – small non-coding RNAs that regulate gene expression by binding target mRNAs may play a r [...]

782 2262

Open Access Original Research

Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy Controls

Received: 01 October 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504318

Abstract

This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established [...]

682 2806

Open Access Review

Episomal Vectors: Principle, Utility, and Application

Received: 31 August 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504317

Abstract

An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such ep [...]

1749 9754

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 incr [...]

1228 4828

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, [...]

828 3185

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 acro [...]

5622 14529

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 tar [...]

826 3569

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 netwo [...]

785 3082

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 (bamb [...]

763 3400

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 an [...]

1358 4288

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, [...]

727 3635

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, biodegradabi [...]

1546 8036

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 [...]

812 4960

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 con [...]

1284 6034

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 [...]

806 3710

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 dat [...]

1035 5241

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 mi [...]

1124 4073

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 bre [...]

778 3588

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 [...]

1021 4527

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 [...]

766 4443

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 impair [...]

822 4025

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 c [...]

771 4919

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 reveale [...]

734 4831

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 le [...]

1292 6592

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 Respir [...]

1148 6021

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 anal [...]

1108 6340

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, [...]

1356 11386

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 [...]

2147 16337

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 o [...]

1040 6081

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 [...]

820 4046

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 sy [...]

1577 19832

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