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Open Access Review

A is for Autophagy and Alzheimer's

Received: 01 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.geriatr.1804020

Abstract

Improved understanding of the underlying cellular dysfunction and resultant neuropathology of sporadic Alzheimer’s disease (AD) is needed to stem the anticipated public health crisis due to this increasingly common neurodegenerative disease. The four main risk factors for sporadic AD are age, female gender, genetic carriage of the APOE4 allele and type two diabetes mellitus (T2DM). Each of these four risk factors is associated with impaired and/or dysfunctional autophagy suggesting that perturbation of autophagy is [...]

1775 10612

Open Access Editorial

Behavioral Symptoms of Dementia

Received: 04 November 2018;  Published: 08 November 2018;  doi: 10.21926/obm.geriatr.1804019

Abstract

Behavioral symptoms of dementia

2084 13811

Open Access Original Research

Missing Voices and Aging in Prison: Religiosity’s Influence on Positive Aging through Forgiveness

Received: 24 August 2018;  Published: 06 November 2018;  doi: 10.21926/obm.geriatr.1804018

Abstract

Background: This study investigated the influence of positive psychological predictors, religiosity and forgiveness, on subjective and objective successful aging outcomes among incarcerated males. Methods: Male prison inmates (N=261), aged 45 to 82 and incarcerated in eight state-managed correctional facilities, were sampled from the prison census database (Oklahoma Department of Corrections or DOC). Exclusion criteria, per the Oklahoma DOC, were those housed in medical or psychiatric units, currently in solitary c [...]

1778 12025

Open Access Communication

Cognitive Reserve: Cognitive Abilities that Shield Against Dementia Symptomatology

Received: 19 June 2018;  Published: 31 October 2018;  doi: 10.21926/obm.geriatr.1804017

Abstract

Background: Cognitive reserve describes the capacity for cognitively normal functioning despite brain damage. Previous research on cognitive reserve outlined how characteristics of the brain promote good cognitive functioning, although it is not yet clear what cognitive processes help individuals to maintain good cognitive functioning in the face of brain damage. Methods: Narrative review of relevant articles identified in literature searches for cognitive and/or psychometric characteristics of cognitive reserve. R [...]

1937 11582

Open Access Review

Association between Oral Frailty and Geriatric Conditions

Received: 06 September 2018;  Published: 26 October 2018;  doi: 10.21926/obm.geriatr.1804016

Abstract

In Japan, the amount of aged hospitalized patients has been steadily increasing. Elderly people are susceptible to poor health, and the rise of elderly patients increases medical care expenses, which can cause economic strain. Therefore, it is clinically and socially important to reduce the occurrence of geriatric diseases, such as aspiration pneumonia and cognitive impairment. The daily care by family members is considered to be effective for the prevention of geriatric diseases, however, early detection of the di [...]

2633 13990

Open Access Original Research

Positive Aging a Two-Way Street: Healthy Lifestyle and Attitudes of Others

Received: 07 August 2018;  Published: 18 October 2018;  doi: 10.21926/obm.geriatr.1804015

Abstract

Background: Previous research has indicated the attitudes that others have toward older adults play an important role in their well-being. The current study contributes to the literature because it evaluates attitudes toward older adults. Methods: The participants included Caucasian and Indigenous people residing in Northern Ontario. All participants were asked to complete a demographics questionnaire and the Kogan’s Attitudes Toward Old People Scale (KAOP). Results: Results indicated that Indigenous participants h [...]

1729 9965

Open Access Original Research

New Holistic Enrichment Program Utilizing Maslow’s Hierarchy of Needs Designed for Institutionalized Residential Care Facilities

Received: 19 January 2018;  Published: 10 October 2018;  doi: 10.21926/obm.geriatr.1804014

Abstract

Background: The growing aging population requires care support resources which engage older adults in many different aspects of human functioning and experiences [1]. The purpose of this applied research project was to develop, and pilot test a holistic enrichment program manual used with Institutionalized Residential Care Facilities (IRCF) that encompasses motor skill, social, cognitive and self- enrichment outcomes, and to pilot test the enrichment program manual to be both cost-effective and a time savings to IR [...]

2623 17724

Open Access Original Research

Dementia: Aloneness, Social and Relational Engagement, and Psychological Growth in Families

Received: 23 June 2018;  Published: 08 October 2018;  doi: 10.21926/obm.geriatr.1804013

Abstract

Background: Minimal research investigates negative and positive perspectives of wellbeing in families, when a member with dementia is limited in their speech, or speech is absent. Methods: Seeking to explore this phenomenon further, semi-structured interviews sought negative and positive subjective interpretations from 27 family carers (mild to profound dementia). Interviews explored the participants' experience of changing relational and social engagement when a family member lives with dementia. Data were analyse [...]

2265 12507

Open Access Review

Online Dating Profiles and Problems in Older Adults: A Review

Received: 28 April 2018;  Published: 25 September 2018;  doi: 10.21926/obm.geriatr.1803012

Abstract

This narrative review is based on literature searches of PubMed and PsycINFO using the terms online dating in older adults. The papers that met inclusion criteria include content analyses of online dating profiles and interviews with online dating individuals. The issues that emerged from this literature included online versus off-line advantages and disadvantages, online profile characteristics that differ by age and gender and online use problems. Online versus off-line dating older adults have reputedly experien [...]

2499 28695

Open Access Review

Neuroimaging in Dementia

Received: 15 May 2018;  Published: 03 September 2018;  doi: 10.21926/obm.geriatr.1803011

Abstract

Amyloid positron emission tomography (PET), fluorodeoxyglucose (FDG) PET, and magnetic resonance imaging (MRI) are three modalities in the imaging of Alzheimer’s disease (AD). This article reviews the experience and data obtained from AD research using these techniques to understand the natural history of AD and to enhance therapeutic trials. It is now realised that their use can improve early detection of AD, and has opened a new corridor which may lead toward successful treatment.

2291 15779

Open Access Review

A Review of Oral Health in Older Adults: Key to Improving Nutrition and Quality of Life

Received: 26 April 2018;  Published: 27 August 2018;  doi: 10.21926/obm.geriatr.1803010

Abstract

With increased life expectancy coupled with falling birth rate, issues concerning population ageing have vital outcomes and effects for all aspects of human life particularly as it relates to older people’s health and health care. Among these issues are oral health diseases which present as major public health concerns and constitute significant burden to all regions of the world. FDI World Dental Federation in 2018, states that 90% of the entire world’s population will be afflicted by oral health problems in their [...]

2620 22886

Open Access Original Research

The Effect of the Human Plasma Molecule GHK-Cu on Stem Cell Actions and Expression of Relevant Genes

Received: 08 June 2018;  Published: 14 August 2018;  doi: 10.21926/obm.geriatr.1803009

Abstract

Background: Stem cell technology is a promising research area with a potential to create effective therapies for many degenerative diseases. However, to apply stem cell technology, we need to be able to identify and understand mechanisms that distinguish healthy regeneration processes from processes, which may result in chronic inflammation, scarring, fibrosis or cancer. GHK-Cu (glycine-L-histidine-lysine) is a small copper-binding peptide, which has a remarkable and well-documented ability to improve wound healing [...]

3868 115773

Open Access Original Research

Implementation of a Geriatric Patient-Centered Medical Home: the Geriatric Patient – Aligned Care Team (GeriPACT)

Received: 21 May 2018;  Published: 13 August 2018;  doi: 10.21926/obm.geriatr.1803008

Abstract

Background: A Veterans Health Administration (VHA) patient centered medical home, the Geriatric Patient- Aligned Care Team (GeriPACT). Methods: Plan-Do-Study-Act (PDSA) cycles regarding strategy, resource development, patient and caregiver experience of care, and clinical care process improvement. Stakeholder engagement for half-time operation with initial grant support for personnel who also had collateral duties. Tracking of operations data. Results: The clinic population grew from 200 to 627 over a 7-year period [...]

2299 13641

Open Access Original Research

Simultaneous Localization and Mapping (SLAM) for Route Reversal Learning

Received: 25 May 2018;  Published: 09 August 2018;  doi: 10.21926/obm.geriatr.1803007

Abstract

Background: In this paper, we describe the design of a virtual environment (VE) using Simultaneous Localization and Mapping (SLAM) to scan and replicate a real environment (RE) in a virtual domain. Compared to using a CAD software, SLAM allows for the replication of an RE quite easily and quickly. Methods: To test the user’s performance in a SLAM-based VE, we developed an immersive virtual reality setup using a specialized wheelchair (VRNChair) and a head mounted display (Oculus Rift DK2), and employed a knowledge [...]

1772 12057

Open Access Short Report

Positive Life Experiences Following a Dementia Diagnosis

Received: 15 June 2018;  Published: 26 July 2018;  doi: 10.21926/obm.geriatr.1803006

Abstract

Background: Given the stigma and fear associated with Alzheimer’s disease (AD), combined with the progressive nature of the disease, the diagnosis of AD or mild cognitive impairment (MCI) is often very difficult; yet, there may still be ways to experience some positive outcomes following diagnosis. We aim to assess the psychological impact of a diagnosis of MCI or early dementia on positive well-being. Methods: Individuals with a diagnosis of MCI or AD were mailed surveys with the Silver-Lining Questionnaire. Resul [...]

2084 12874

Open Access Case Report

The Positive Effect of Long-Term Repetitive Transcranial Magnetic Stimulation Therapy for Mild Cognitive Impairment: Three Case Studies

Received: 12 March 2018;  Published: 11 June 2018;  doi: 10.21926/obm.geriatr.1802005

Abstract

Background: Mild Cognitive Impairment [MCI] is a transition stage between normal aging and dementia. It seems to be useful to treat MCI before the onset of early dementia, though no pharmacological treatment is recommended [1]. These case studies aimed to assess the efficacy of long-term repetitive Transcranial Magnetic Stimulation [rTMS] treatment on cognition, and clinical changes, in elderly MCI patients. Methods: Three patients with MCI were treated by rTMS with different parameters of stimulation, targeting th [...]

1977 13194

Open Access Editorial

What is Geriatrics?

Received: 20 March 2018;  Published: 28 March 2018;  doi: 10.21926/obm.geriatr.1801004

Abstract

All of us are intuitively aware, and many of us explicitly aware as well, of the meaning of geriatrics as a specialty. After all, most of us practice geriatrics or we have been intimately involved with this area and we are know the reality of geriatrics. Or do we? Geriatrics is an oddly ill-defined specialty when you look at it more carefully. Some of us practice medicine, some of us practice in the social sciences, and many of us simply do our jobs day-to-day and try to get by. What we share, however, is the heart [...]

1682 9464

Open Access Editorial

Gene Therapy Comes of Age

Received: 12 December 2017;  Published: 24 December 2017;  doi: 10.21926/obm.geriatr.1704003

1742 9210

Open Access Review

The Feasibility and Necessity of a Revolution in Geriatric Medicine

Received: 19 February 2017;  Published: 13 April 2017;  doi: 10.21926/obm.geriatr.1702002

Abstract

Currently, geriatric medicine consists mainly of palliative treatment of the disorders that characterize senile decay. This is perfectly compatible with the prevailing view that aging is the inevitable result of multiple degenerative processes that cannot be treated effectively as they are, in themselves, inevitable and irreversible. This interpretation of aging clashes with a mass of data and arguments that, conversely, indicate that aging is a specific physiological function, favoured by supra-individual natural [...]

1502 12090

Open Access Editorial

OBM Geriatrics—An International Open Access Journal for 21st Century Geriatrics Medicine

Received: 11 December 2016;  Published: 06 January 2017;  doi: 10.21926/obm.geriatr.1701001

Abstract

Geriatrics, and much of clinical medicine, is on the verge of a profound transformational shift. Until now, there has been a sharp conceptual divide between diseases which can be readily and effectively treated, and diseases which we have thought to be beyond clinical intervention. In the first disease category, are many of the most common infections that respond to antibiotics and immunizations. We have made dramatic changes in the demographics and the mortality of many such treatable diseases. At the other extrem [...]

1677 16918

Open Access Research Article

Skin Cancer and Its Classification in the Aged: A Study of Melanoma and Squamous Cell Carcinoma Using OCT and AI

Received: 21 February 2026;  Published: 07 June 2026;  doi: 10.21926/obm.genet.2602345

Abstract

Skin cancer is a major disease that affects older subjects in the US. There are 56 million Americans 65 years and older in the US and the median age for melanoma diagnosis in the United States is 66 years. Each year 6 M patients are treated for skin cancer including basal cell carcinoma, squamous cell carcinoma, and melanoma. Both melanoma and squamous cell carcinoma can metastasize with melanoma being more likely to metastasize compared to squamous cell carcinoma and lead to death. The need to screen older subject [...]

80 249

Open Access Original Research

Clinical Manifestation of Osteogenesis Imperfecta in Indonesian Patients: A Multi-Centre Study

Received: 22 January 2026;  Published: 02 June 2026;  doi: 10.21926/obm.genet.2602344

Abstract

Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestat [...]

99 429

Open Access Original Research

Prenatal Diagnosis of Severe Factor VII Deficiency in the Setting of Maternal Breast Cancer

Received: 23 January 2026;  Published: 26 May 2026;  doi: 10.21926/obm.genet.2602343

Abstract

Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder (RBD), presenting with various clinical manifestations. Given the heightened risk of life-threatening bleeding and fatal hemorrhagic complications, prompt detection of the disorder is critical, especially in cases with low FVII levels and a history of familial severe clinical presentations. In such cases, prenatal diagnosis (PND) emerges as a life-saving option. In this study, we reported two PNDs in a family with a positive family hi [...]

151 448

Open Access Original Research

Genetic Variants in Panamanian Patients with Hereditary Cardiomyopathies

Received: 26 January 2026;  Published: 20 May 2026;  doi: 10.21926/obm.genet.2602342

Abstract

Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carrier families to prov [...]

279 648

Open Access Case Report

Clinical and Molecular Cytogenetic Characterization of a De Novo 3q26.33-q28 Duplication: Case Report and Literature Review

Received: 06 February 2026;  Published: 19 May 2026;  doi: 10.21926/obm.genet.2602341

Abstract

Isolated duplications of the long arm of chromosome 3 (3q) are rare chromosomal abnormalities. To date, approximately 32 pure cases have been documented. Most reported 3q duplications arise from unbalanced translocations or inversion-loops mechanisms and are associated with additional chromosomal imbalances, making pure duplications particularly valuable for genotype-phenotype correlations. We report a 17-year-old female with a de novo pure tandem duplication of 3q26.33-q28 (~10.945 Mb). The clinical course was mar [...]

284 778

Open Access Review

A Multi-Omics Panorama of Acute Myeloid Leukemia: From Molecular Hallmarks to Clinical Translation

Received: 14 March 2026;  Published: 18 May 2026;  doi: 10.21926/obm.genet.2602340

Abstract

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with genetic and clinical characteristics. Recent advances in multi-omic technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, immunomics, microbiome profiling, and both spatial and single-cell analyses, have greatly enhanced our understanding of AML pathobiology. Substantial multi-omic studies show that recurrent driver mutations not only impart traditional genomic lesions but also participate in chromatin re [...]

308 1111

Open Access Review

Latest Approaches in Cancer Therapy and Remaining Gaps

Received: 12 December 2025;  Published: 13 May 2026;  doi: 10.21926/obm.genet.2602339

Abstract

Cancer remains one of the major global challenges due to its complex and heterogeneous molecular nature across individuals. Recent advances in technology have enhanced the understanding of cancer’s molecular mechanisms, paving the way for the development of effective therapeutics. These include small-molecule inhibitors and monoclonal antibodies, used to interfere with the oncogenic signaling pathways. Immunotherapy has also emerged as a promising area in cancer therapy, with approaches such as immune checkpoint in [...]

253 703

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 preliminary study in Indonesia involving 29 patients with clinical features of NS. Detailed clinical and echocardiography data were collected. Genomic DNA was extracted from a peripheral blood sample. Exome sequencing or PCR followed by Sang [...]

292 1138

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 plasticity via genetic and epigenetic mechanisms. A structured literature search (2000-2025) was conducted using PubMed, Scopus, and Web of Science, integrating evidence from in vitro, animal, and human studies. Findings [...]

453 2085

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-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p [...]

274 936

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 with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene: isolated coronal synostosis, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevens syndrome, Jackson–Weiss syndrome, Crouzon syndrome wi [...]

270 897

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 circular quadripartite structure of 155,667 bp, with an overall GC content of 37.8%. The genome comprises a large single-copy (LSC) region of 86,332 bp, a small single-copy (SSC) region of 17,853 bp, and a pair of inverted repeat (IR) regions of 25,741 bp each. A to [...]

411 1164

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 requirements. The work aimed to study the genetic uniqueness of cows of the brown Carpathian breed using cytogenetic and molecular genetic markers. The karyotype of the animals corresponded to the species norm and was 2 [...]

286 1008

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 possibilities, benefits, and limitations of NIPT. The biggest challenge facing NIPT is that comprehensive training for healthcare professionals and independent, unbiased information for pregnant women and their families about [...]

694 2477

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 Sites Polymorphism) markers 1882 and 2152. The collection of biological material was undertaken at various locations across five European countries, with the objective of capturing a broad spectrum of environmental conditions. The genetic re [...]

337 1120

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 under salt stress. Salt tolerance in ten wheat cultivars and five selected F1 hybrids was assessed at the germination and seedling stage. Genotypes were assessed for seven traits under control (0 mM NaCl) and salinity stress (150, 200, and 25 [...]

329 1248

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 approaches to the treatment of DM are required. The review explores recent developments in the fields of genetic and molecular underpinnings of DM, focusing on the revolutionary potential of cell- and Clustered Regularly Intersp [...]

955 4136

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. Genes that control specific biochemical pathways involving glucose metabolism can interfere with the manifestation of this disease when they undergo genetic changes like KRAS. Investigating the role of KRAS in DM. Abou [...]

335 1081

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 associated with male infertility. However, a significant part of the human genome, namely non-coding DNA, has not yet been explored. Recent breakthroughs in the realm of high-throughput genomic technologies have unveiled the ind [...]

426 1558

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 leukocytes from 78 PLWH on ART, compared with 163 HIV-uninfected controls. The PLWH group was stratified into three subgroups: HIV-only (n = 57), HIV with AIDS-defining cancer (ADC, n = 9), and HIV with NADC (n = 12). Quantitative p [...]

704 1626

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 biocompatible carriers, capable of orchestrating immune cell dynamics, stromal remodeling, and tumor cell fate. Unlike their tumor-derived counterparts, which often propagate oncogenic signals, SDEs uniquely harbor immun [...]

856 2945

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 the frequency profiles of 18 Y-chromosome STRs (Short tandem repeats) and the level of genetic differentiation. Based on FST estimates for the distribution of these 18 Y-chromosome STRs, the senior generations of Moscow a [...]

874 3347

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 depigmented spots. Tuberous sclerosis is caused by germline variants in the TSC1 (encoding hamartin) and TSC2 (encoding tuberin) genes. The hamartin-tuberin protein complex, together with the TBC1D7 molecule, inhibits the serine/threoni [...]

666 1911

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 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 [...]

506 1273

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 genetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR), have provided valuable information, they all have the limitation of incomplete genomic coverage. The ev [...]

758 2827

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, molecular studies are unavailable, necessitating reliance on clinical and histopathological evaluation. We report a 1-year-old boy referred for assessment of progressive pigmented skin lesions. The patient was referred by a pediatrician with febrile neutropenia, bicytopenia suspicio [...]

783 2258

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 role in BA pathogenesis. Circulating miRNAs have shown diagnostic potential for various diseases, prompting our investigation of miR-21 and miR-19 as potential biomarkers in BA. We conducted a case-control study comparing [...]

848 2483

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 markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), were also analyzed. Seventy HLA-B51–positive BD patients and 114 HLA-B51–negative healt [...]

781 3293

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 episomal vectors are usually based on sequences from DNA viruses such as bovine papillomavirus 1 and Epstein-Barr virus. When cells are transfected with an episomal vector harboring a drug-resistance gene and subsequently [...]

2097 12345

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 [...]

1346 5423

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 [...]

906 3458

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 [...]

5769 15877

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 [...]

929 3958

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 [...]

890 3437

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 [...]

845 3608

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 [...]

1443 4533

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 [...]

775 3810

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 [...]

1681 8684

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 [...]

885 5293

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 [...]

1393 6728

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 [...]

854 3866

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 [...]

1138 5556

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 [...]

1285 4353

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 [...]

827 3720

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 [...]

1075 4728

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 [...]

848 4728

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 [...]

901 4253

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 [...]

858 5192

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 [...]

783 5102

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 [...]

1402 6939

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 [...]

1231 6267

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 [...]

1159 6705

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 [...]

1487 13458

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 [...]

2303 16986

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 [...]

1137 6435

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 [...]

862 4173

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 [...]

1725 20943

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 [...]

1306 4964

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 [...]

1323 5875

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 [...]

932 5428

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 [...]

1102 9143

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 [...]

1535 7657

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 [...]

1132 6483

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 [...]

1251 6135

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 [...]

3458 17509

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 [...]

1538 21781

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 [...]

1700 9055

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 [...]

1700 7579

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 [...]

749 3033

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 [...]

1361 7379

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 [...]

2041 12241

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 [...]

2014 20294

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 [...]

1034 5432

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 [...]

1891 10300

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 [...]

796 4366

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 ( [...]

1703 9495

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. [...]

800 4166

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 [...]

1112 5992

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 [...]

1339 5295

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 [...]

1190 6532

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