Comprehensive Cytogenetic and ISSR Analysis in the Context of Conservation of the Local Breed of Brown Carpathian Cattle BreedAbstract 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 [...] 16 79 |
Challenges and Ethical Issues Related to Non-Invasive Prenatal Testing (NIPT)by
Thomas Liehr
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 [...] 155 551 |
Assessment of Genetic Diversity and Polymorphism in Corylus avellana L. Pollen by Inter-Primer Binding Site Marker AnalysisAbstract 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 [...] 102 352 |
Evaluation of Ten Bread Wheat (Triticum aestivum) Cultivars and Five of Their Hybrids under Salinity Stress at Germination and Seedling Stageby
Doaa Mokhtar
,
Amina Abdel-Hamid
,
Ahmed Mohamed Mostafa
,
Ahmed M.S. Elfanah
,
Mohamed A Badawi
,
Abdullah A. Saber
,
Hoda S. Barakat
and
Sara Aly
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 [...] 84 413 |
Insights from Stem Cell and CRISPR-Based Therapies for Diabetes Mellitus: A Systematic ReviewAbstract 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 [...] 205 923 |
Determining the Role of KRAS in Patients with Different Demographic Profiles Diagnosed with Diabetes Mellitus: A Case-Control Studyby
Noora A. Hadi
,
Rehab S. Ramadhan
,
Khalid Suhail A. AlAzzawi
,
Rebah N. Algafari
,
Sura S. Talib
and
Rawaa A. Khalaf
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 [...] 121 416 |
Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese PopulationAbstract 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 [...] 171 655 |
Analysis of Leukocyte Telomere Length in Brazilian People Living with HIV with and Without Cancerby
Rafaele Tavares Silvestre
,
Mariana Chantre-Justino
,
Mariana Alexandre Bragante
,
Paula Lacorte de Carvalho
,
Lucas Delmonico
,
Gilda Alves
,
Maria Helena Ornellas
and
Dirce Bonfim de Lima
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 [...] 418 975 |
Stem Cell-Derived Exosomes: Non-Coding RNA Cargos for Reprogramming the Tumor Immune Microenvironmentby
Manal Hadi Ghaffoori Kanaan
,
Beom-Jin Lee
,
Sura Saad Abdullah
,
Chulhun Park
,
Abdolmajid Ghasemian
and
Steward Mudenda
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 [...] 529 1649 |
Genetic Differentiation of Populations of Three Megalopolises by DNA Markers of the Y-Chromosome in Connection with the Problem of Developing Genetic DatabasesAbstract 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 [...] 570 1937 |
Genetic and Clinical Features of Tuberous Sclerosis Patients from the Republic of BashkortostanAbstract 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 [...] 437 1191 |
Acknowledgment to Reviewers of OBM Genetics in 2025Abstract 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 [...] 363 911 |
The Application of Next-Generation Sequencing in LeukemiaAbstract 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 [...] 462 1695 |
Diagnostic Challenges of Rothmund-Thomson Syndrome in Infancy: A Case Report from a Resource-Limited Settingby
Marcella Anggatama
,
Hanggoro Tri Rinonce
,
Dwinanda Almira Rizkiani
,
Eddy Supriyadi
,
Raden Roro Rini Andayani
,
Yohanes Widodo Wirohadidjojo
and
Retno Danarti
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 [...] 522 1490 |
Differential Expression of MiR-21 and MiR-19 in Biliary Atresia: Diagnostic Potential and Therapeutic Implicationsby
Mahintaj Dara
,
Negar Azarpira
,
Nasrin Motazedian
,
Mahdokht Hossein-Aghdaie
,
Seyed-Mohsen Dehghani
,
Bita Geramizadeh
and
Elaheh Esfandiari
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 [...] 664 1965 |
Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy ControlsAbstract 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 [...] 513 2248 |
Episomal Vectors: Principle, Utility, and Applicationby
Masahiro Sato
,
Emi Inada
,
Satoshi Watanabe
,
Issei Saitoh
,
Naoko Kubota
,
Yoko Iwase
,
Kazunori Morohoshi
and
Shingo Nakamura
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 [...] 1198 6804 |
Physio-Chemical and Molecular Characterization of Salinity Stress in Wheat: Mitigation Approaches and Future Perspectivesby
Muhammad Zahid
,
Amir Shakeel
,
Dilawar Aslam
,
Qumber Abbas
,
Basharat Ali
,
Yasir Niaz
,
Javed Iqbal
,
Fatih Çiğ
,
Murat Erman
,
Hakkı Akdeniz
,
Mohammad Sohidul Islam
,
Muhammad Aamir Iqbal
,
Disna Ratnasekera
,
Ömer Konuşkan
and
Ayman El Sabagh
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 [...] 1012 4036 |
The Effect of Adding Mealworm, Probiotics, and Mealworm Plus Probiotics on IL-8 Gene Expression in Liver and Spleen Tissues of Broiler Chickensby
Mohammadreza Mohammadabadi
,
Amin Khezri
,
Olena Babenko
,
Oleksandr Oleksandrovich Borshch
,
Oleksandr Kalashnyk
,
Iryna Starostenko
,
Sergii Тkachenko
,
Nataliia Klopenko
,
Iryna Tytarenko
,
Ivan Bezpalyi
and
Aliakbar Khabiri
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, [...] 641 2686 |
Etiopathogenesis of Ebstein’s Anomaly RevisitedAbstract 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 [...] 5411 13756 |
Potential Synergistic Interaction Between Curcumin and Sorafenib Enhances Cytotoxicity in NCI-H5222 Lung Cancer CellsAbstract 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 [...] 703 3140 |
Network Topology Similarities Across Cancer Types: Identifying Central Protein Hubs for Drug Discoveryby
Emad Fadhal
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 [...] 661 2707 |
Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorderby
Dwinanda Almira Rizkiani
,
Erliana Tantri Harsono
,
Raden Roro Rini Andayani
,
Hanggoro Tri Rinonce
,
Niken Trisnowati
and
Retno Danarti
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 [...] 620 3099 |
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 PopulationAbstract 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 [...] 1277 4038 |
The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegiaby
Ivanna Shymanska
,
Sofiia Levandivska
,
Marharyta Marchuk
,
Anastasiya Honchar
,
Volodymyr Kravets
and
Halyna Makukh
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, [...] 638 3411 |
Plant-Derived Nanoparticles in Cancer Therapy: A Comprehensive Review of Recent Advances and Future ProspectsAbstract 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 [...] 1429 7424 |
Trends in Breast Cancer Epigenetics Research from 1993 to 2023: A Bibliometric AnalysisAbstract 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 [...] 732 4656 |
Morpho-Biochemical Characterization and Genetic Analyses of the Traits of Mungbean Genotypes Confined with Yield Attributing Traits and Salinity Stress Toleranceby
Mumtarim Haque Mim
,
Biswajit Das
,
Sheikh Mahfuja Khatun
,
Sadia Akter
,
Jannatul Naim
,
Mohammad Anowar Hossain
,
Mohammad Pessarakli
and
Mohammad Anwar Hossain
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 [...] 1129 5535 |
Effects of Plastoquinone Derivative 10-(6'-Plastoquinonyl) Decyltriphenylphosphonium on Rice Seeds Grown under Complete Flooding Conditionsby
Nadezhda G. Duplii
,
Kirill V. Azarin
,
Alexander V. Usatov
,
Andrey A. Plotnikov
,
Ritu Rani
and
Vishnu D. Rajput
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 [...] 716 3497 |
Leveraging DNA Databases to Reconnect Families Separated by Conflicts and Humanitarian CrisesAbstract 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 [...] 945 4834 |
Impact of Normalization Methods on Metagenomic Characterization of Amaranthus Cruenthus var. Pribina-Associated Microbiomes Under Cadmium StressAbstract 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 [...] 1024 3781 |
Evaluation of Polylocus Spectra of DNA Fragments of the Genus Eguus Using ISSR-PCR MarkersAbstract 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 [...] 699 3401 |
Serum Shock Enhances Endogenous Melatonin Production and Mitochondrial Gene Regulation in U87-MG Glioblastoma Cellsby
Shayan Balkhi
,
Marie Saghaeian Jazi
,
Nader Mansour Samaei
,
Nahid Rezaie
and
Mahtab Farahmandrad
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 [...] 960 4265 |
Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndromeby
Pierre-Yves Maillard
,
Sima Tokajian
,
Marie Vilaire-Meunier
,
Charbel Al Khoury
,
Cybel Mehawej
,
Eliane Chouery
,
Marie-Anne Caillaud
,
Louise Maillebouis
,
Ines Ben Smida
,
Sophie Durand
,
Aimé Ravel
,
Cecile Cieuta-Walti
,
Marie-Noëlle Ungeheuer
,
Clotilde Mircher
and
André Mégarbané
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 [...] 675 4133 |
The Identification and Classification of Novel Genetic Variants in the MCPH1 Gene Suggest Association with Non-Syndromic Hearing ImpairmentAbstract 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 [...] 735 3799 |
A New Database on Constitutional Human Ring Chromosomesby
Thomas Liehr
and
Peining Li
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 [...] 650 4578 |
Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical ObservationAbstract 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 [...] 680 4457 |
In Silico Evaluation of Anti-SARS-CoV-2 Bioactive Compounds from Jatropha curcasby
Faten Dhawi
and
Shefin Basheera
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 [...] 1059 5772 |
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 Disorderby
Mohammad-Reza Ghasemi
,
Maryam Mirahmadi
,
Hadi Bayat
,
Mohammad Miryounesi
,
Reza Mirfakhraie
,
Shadab Salehpour
,
Raheleh Tangestani
,
Faezeh Sherafat
,
Hasan Roudgari
and
Milad Gholami
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 [...] 1028 5996 |
The Roles of IL-6, IL-8, and TNF-α in Pediatric Immune Defense and Infection SeverityAbstract 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, [...] 1213 9825 |
Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materialsby
Ayub Nor Hanin
,
Mat Yunus Abdul Masani
,
Ong-Abdullah Janna
,
Omar Abdul Rasid
and
Ghulam Kadir Ahmad Parveez
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 [...] 1957 15460 |
Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Reviewby
Mohammad-Reza Ghasemi
,
Maryam Mirahmadi
,
Hadi Bayat
,
Morteza Sheikhi Nooshabadi
,
Sanaz Jamshidi
,
Shadab Salehpour
,
Reza Mirfakhraie
,
Fatemeh Fazeli
,
Mohammad Miryounesi
and
Milad Gholami
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 [...] 943 5704 |
Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case ReportAbstract 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 [...] 747 3854 |
Diagnosis of Infectious Diseases by CRISPR/Cas Systemby
Mahintaj Dara
,
Negin Shafieipour
,
Mahsa Saffar
,
Mehdi Dianatpour
,
Seyed-Mohammad-Bagher Tabei
and
Seyed-Alireza Dastgheib
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 [...] 1434 18860 |
Investigating Interest in Cancer Predisposition Testing and Expanded Carrier Screening in Routine Gynecologic Care among Pregnancy Capable IndividualsAbstract 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 ba [...] 1067 4478 |
Potential CRISPR-Cas9-based Antiviral Activity Against Hepatitis C Virus in Liver CancerAbstract 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 co [...] 1134 5420 |
Inheritance Studies of Root-Knot Nematode (Meloidogyne Species) Resistance in Tomato (Solanum Lycopersicum L.)by
Matilda Frimpong
,
Michael Kwabena Osei
,
Kingsley Osei
,
Ruth Naa Ashiokai Prempeh
,
Joseph Gyau
,
Isaac Newton Boakye-Mensah
,
Bismark Abugri
and
Maxwell Darko Asante
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 [...] 776 4968 |
When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesiaby
Joni Indah Sari
,
Nydia Rena Benita Sihombing
,
Nani Maharani
,
Tri Indah Winarni
and
Agustini Utari
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 [...] 826 8283 |
Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case ReportAbstract 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. [...] 1307 6993 |
Clinical and Molecular Profile of Dystrophin Gene Deletions in Eastern Moroccoby
Fatimazahra Smaili
,
Khawla Zerrouki
,
Fatima Ezzahra Aouni
,
Ayad Ghanam
,
Maria Rkain
,
Abdeladim Babakhouya
and
Mariam Tajir
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 stud [...] 896 5779 |
Maternally Derived Complex Small Supernumerary Marker Chromosome 22 Associated with Cat-Eye Syndrome Like Featuresby
Hicham Bouchahta
,
Zhour EL Amrani
,
Siham Chafai Elalaoui
,
Fatima Ouboukss
,
Aziza Sbiti
,
Laila Sbabou
,
Thomas Liehr
,
Abdelaziz Sefiani
and
Abdelhafid Natiq
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 involve [...] 1030 5513 |
A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin TherapyAbstract 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 [...] 2728 15036 |
Gene Therapy Strategies for Muscular Dystrophies: Current Insights and Future DirectionsAbstract 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 [...] 1384 19998 |
Effects of Coenzyme Q10 on H2O2-Induced Oxidative Stress of Human KeratinocytesAbstract 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 [...] 1321 8091 |
Comparison of Heavy Metal and Disinfectant Resistance of S. aureus and Enterococcus Isolates with Antibiotic Resistance ProfilesAbstract 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 ca [...] 1456 6824 |
Acknowledgment to Reviewers of OBM Genetics in 2024Abstract 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 c [...] 622 2771 |
Role of Genomics in Neonatal Care and Research—A Narrative ReviewAbstract 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 bene [...] 996 6456 |
A Systematic Review on the Role of SnRK2 Gene in Arabidopsis thaliana Growth Stages under Abiotic StressesAbstract 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 osmoti [...] 1721 10920 |
Molecular Markers Used to Reveal Genetic Diversity and Phylogenetic Relationships in Crop Plantsby
Özlem Özbek
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 sh [...] 1547 16767 |
Important Guide for Natural Compounds Inclusion in Precision MedicineAbstract 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 [...] 939 5031 |
Epstein-Barr Virus and Helicobacter pylori as Two Main Risk Factors in Gastric Cancerby
Parisa Zeynali
,
Hossein Teimouri
,
Seyed Mohammad Ali Hashemi
,
Arefeh Ebrahimian
,
Seyed Nooreddin Faraji
,
Shahriar Sakhaei
and
Emad Behboudi
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 as [...] 1668 9140 |
External Validation and Modification of a New Score for Predicting Mortality in Patients with COVID-19 in High Altitude Patients. A Peruvian Studyby
Walter Calderón-Gerstein
,
Gabriela Torres-Samaniego
,
Kevin Pazos-Sovero
and
Mirella Calderón-Anyosa
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, observati [...] 649 3987 |
Phenotypic Characterization of Advanced Breeding Lines of Rice (Oryza sativa L.) for Drought and Low Phosphorus Stress Toleranceby
Sopnil Ahmed Jahin
,
Biswajit Das
,
Adrita Abdullah
,
Sadia Akter
,
Mohammad Abu Kawsar Sarower Siddique
and
Mohammad Anwar Hossain
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 [...] 1380 8588 |
Cytogenetic and ISSR-Markers Polymorphism in the Population of Local Ukrainian Lebedyn CowsAbstract 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 [...] 666 3840 |
Synergistic Effect of Resveratrol and Paclitaxel in the Treatment of Malignant Pleural MesotheliomaAbstract 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 dia [...] 949 5579 |
Effect of Drought Stress on Agronomic Traits and Total Leaf Proteins in Different Bottle Gourd [Lagenaria siceraria (Molina) Standl.] Genotypesby
Phumzile Mkhize
and
Phetole Mangena
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 [...] 1076 4740 |
Novel FLNC Gene Variant Associated with Hypertrophic Cardiomyopathyby
José A. Cedeño-Escudero
,
Luis A. Sotillo-Bent
,
Carolina Vega- Cuellar
,
Rolando González-Angulo
,
Evelyn Medina-Batista
,
José Sotillo-Lindo
and
Luis A. Méndez-Rosado
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 protein [...] 1038 5783 |
Status of Azoospermia in Saudi Arabia: A Retrospective Narrative Mini-Reviewby
Meshari A. Alzahrani
,
Mohammad A. Alghafees
,
Lama H. Aldosari
,
Abdulaziz K. Almaymuni
,
Abdulltaif M. Altalhah
,
Mohammed M. Abualgasem
and
Basel O. Hakami
Abstract The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saud [...] 1068 11970 |
Polyploidy Induction by Sodium Azide and Ethyl Methane Sulfonate in Grape Genotypesby
Zeki Kara
and
Ahmet Beyatlı
Abstract Continuous improvement of vine rootstocks and grape varieties is necessary for the sustainability of viticulture. In this context, grapevine breeding and especially the development of polyploid grapevine genotypes offer opportunities. This study investigated the effectiveness of sodium a [...] 1002 5078 |
DNA-Based Variability of Length Polymorphism of Plant Allergens Coding Genes Homologs in Selected Lamiaceae Herbsby
Lucia Urbanová
,
Silvia Farkasova
,
Ivana Speváková
,
Matúš Kyseľ
,
Veronika Šimora
,
Miroslava Kacaniova
and
Jana Žiarovská
Abstract Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the [...] 660 4204 |
Becker Phenotype Muscular Dystrophy in a Man with Klinefelter Syndrome: A Rare Associationby
Arianne Llamos-Paneque
,
Isabel Echevarria-Frutos
,
Amaury León-Siosa
,
Tanja Herrmann
and
Thomas Liehr
Abstract To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he [...] 783 4836 |
Clinical Features, Genetic Landscape and Management of Behçet's Syndrome: A Comprehensive Reviewby
Edoardo Masiello
,
Sebastiano Caruso
,
Salvatore Lavalle
,
Roberta Foti
,
Caterina Gagliano
,
Ignazio La Mantia
,
Salvatore Giuseppe Cocuzza
,
Luigi La Via
,
Federica Maria Parisi
,
Christian Calvo-Henriquez
,
Miguel Mayo-Yanez
,
Jerome R. Lechien
,
Claudia Di Napoli
and
Antonino Maniaci
Abstract Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnos [...] 750 8625 |
Molecular Marker Applications in the Selection of Elite Genotypes for Plant Stress Tolerance and Genetic FidelityAbstract Molecular markers play a crucial role in accelerating crop production for sustainable agriculture by identifying resistant traits and enhancing genetic diversity. In this review, we examine the impact of the molecular markers on advancing our understanding of stress tolerance mechanisms in plants, a [...] 1372 9854 |
Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Reviewby
Lamiae Afif
,
Zhour El Amrani
,
Aziza Sbiti
,
Ilham Ratbi
,
Imane Cherkaoui Jaouad
,
Youssef El Kadiri
,
Thomas Liehr
,
Abdelaziz Sefiani
and
Abdelhafid Natiq
Abstract 6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and s [...] 1265 6202 |
Case Studies in the Ethics of Assisted Reproduction, by Louise P. King & Isabelle C. Band, Switzerland: Springer Cham, 152 Pages, Ebook, 978-3-031-41215-8Abstract "Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of inform [...] 1587 7255 |
A Child Carrying a Large Deletion in the 10p.15.3-p12.31 RegionAbstract Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global deve [...] 883 6542 |
Phenylketonuria—Past, Present, and Future Directionsby
Nicole A. Bailey
and
Laura Mackay
Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine [...] 2136 32714 |
Miscarriages after Natural Conception & IVF: Comparative Study of Genetic Analysis of Products of Conceptionby
Elena V. Kudryavtseva
,
Sergey N. Fedenev
,
Ilia V. Kanivets
,
Anastasiya N. Troitskaya
and
Vladislav V. Kovalev
Abstract Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is [...] 933 6887 |
Exploring Multitargets Treatment for Diabetesby
Bolanle Adenike Akinsanola
,
Matthew Iyobhebhe
,
Tobiloba Christianah Maduakolam-Aniobi
,
Tomilola Debby Olaolu
,
Damilare Emmanuel Rotimi
and
Oluwafemi Adeleke Ojo
Abstract Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. &l [...] 682 4807 |
Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic LeukemiaAbstract Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. [...] 993 6212 |
Potential Use of Human Mesenchymal Stem Cells (hMSCs) in Pancreatic Damage/CancerAbstract Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develo [...] 951 6545 |
A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and TreatmentAbstract Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternat [...] 1133 8612 |
Causes of Chromosome Breakage and Mis-segregation Affecting Pregnancy and Newborn Health: An Insight into Developing Reproductive Health Preventive Strategiesby
Oyovwi Mega Obukohwo
,
Peggy Ejiro Ohwin
,
Rotu Arientare Rume
,
Olowe Gideon Temitope
,
Oyelere Abosede Oreoluwa
and
Adelowo Joy Motunrayo
Abstract Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for devel [...] 1340 10004 |
Hormonal and Physiological Manipulation Methods to Induce Polycystic Ovary in Rodents: A Review of the New FindingsAbstract Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex ho [...] 1241 9513 |
Chromosome 7 Isodisomy in a Child with Silver-Russell Syndromeby
Luis A. Méndez-Rosado
,
Alicia Vaglio
,
Roberto Lardoeyt-Ferrer
,
Albertino Candimba-Sebastiao
,
Judith Pupo-Balboa
,
Ivan Y. Iourov
and
Alejandro Esperon
Abstract Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single n [...] 940 6002 |
Investigating the Genetic Basis of Unexplained Infertility and Potential Chromosomal AbnormalitiesAbstract Infertility affects millions globally, with 10-15% of couples experiencing unexplained cases. Despite advancements in medicine, the cause remains unknown, causing emotional distress. Recent research suggests a genetic basis for this issue. This review aims to provide a better understanding of the un [...] 2000 14421 |
Physico-Chemical Study of the Anti-Diabetic Drug of [BzN-EJJ-amide] for Treatment Type2 Diabetes Using CNT Sensor by Drug Delivery MethodAbstract The potential and selective inhibitors of protein tyrosine phosphatase 1B (PTP1B) are therapeutically useful in treating type 2 diabetes. N-Benzoyl-L-glutamyl-[4-phospho [...] 1030 4802 |
Establishment of an In Vitro Propagation, Transformation, and Gene Editing System in Tomato (Solanum lycopersicum)Abstract Tomato (Solanum lycopersicum), a family of Solanaceae, is an annual crop grown in fields and greenhouses. Tomato is the fourth-largest agricultural crop in the world, with a market value of more than $50 billion. Numerous attempts were conducted on the tomato for further improve [...] 1479 9251 |
Integrated Web Application (Snips2HLA-HsG) Development for Sample Preparation and Model Creation for HLA Allele Prediction with the SNP Data Using HIBAG Package of Bioconductor and R ProgrammingAbstract The present study introduces Snips2HLA-HsG, an integrated application designed for SNP genotype analysis and HLA allele type prediction. Leveraging attribute bagging, a powerful ensemble classifier technique from the Bioconductor HIBAG package, Snips2HLA-HsG offers a comprehensive response for genet [...] 1086 7953 |
Melatonin As a Protective Agent Against Environmental Stresses: A Review into Its Molecular Regulation in Plantsby
Buti Obaid Saeed Alfalahi
,
Imane Lamdjad
,
Mustafa Alnujaifi
,
Noaman Atallah Alheety
and
Abdul Qayyum
Abstract Understanding the impact of melatonin (N-acetyl-5-methoxytryptamine) on plant gene expression is crucial for unlocking its full potential as a tool for crop improvement and stress tolerance. Melatonin has emerged to have several influences on the transcriptional activity of numerous genes, helping t [...] 1100 8002 |
The Screening Strategies Used to Establish Egyptian Women Entrepreneurs’ Attitudes towards Genetic TechnologyAbstract In this quantitative study, the researcher examined the screening strategies used to establish Egyptian women entrepreneurs' attitudes toward genetic technology. Using a questionnaire, the researcher collected data from 318 Egyptian women entrepreneurs. From applying the path analysis through Analys [...] 947 4552 |
Molecular Cytogenetic Characterization of Rare but Repeatedly Observed TranslocationsAbstract Balanced chromosomal rearrangements, including translocations, contribute to infertility, repeated abortions, and/or genetically imbalanced offspring in corresponding carriers. A translocation is usually considered a unique, de novo, or familial event. Besides, some translocatio [...] 963 4643 |
Reflective Evaluation of Next-Generation Sequencing Data during Early Phase Detection of the Delta Variantby
Upasana Ramphal
,
Derek Tshiabuila
,
Yajna Ramphal
,
Jennifer Giandhari
,
Carel van Heerden
,
Cheryl Baxter
,
Stephanie van Wyk
,
Sureshnee Pillay
,
Oluwakemi Laguda-Akingba
,
Eduan Wilkinson
,
Richard Lessells
and
Tulio de Oliveira
Abstract During the SARS-CoV-2 pandemic, next-generation sequencing (NGS) technologies like the Ion Torrent S5 and Illumina MiSeq, alongside advanced software, improved genomic surveillance in South Africa. This study analysed anonymized samples from the Eastern Cape using Genome Detective and NextClade, sho [...] 2126 8194 |
Biotechnology Innovation in Do-It-Yourself (DIY) Gene Editing: A Call for a New Regulatory FrameworkAbstract The expansion of do-it-yourself (DIY) gene editing, facilitated by Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology, has catalyzed a significant shift in scientific research and biotechnology innovation. This movement is propelled by a community-driven approach that chal [...] 2554 18590 |
Bacteriophages Therapy: Exploring Their Promising Role in Microbiome Modulation and Combatting Antibiotic ResistanceAbstract Bacteriophages, or phages, are viruses that infect bacteria, exhibiting specificity towards particular bacterial strains. Despite being overshadowed by traditional antibiotics in the West, interest in phage therapy has resurged due to the escalating antimicrobial resistance crisis. Understanding pha [...] 1629 10177 |
The Significance of Key Proteins in the RAS Signaling Pathway: Implications for Cancer and Therapeutic Targetsby
Emad Fadhal
Abstract The RAS signaling pathway is a crucial cell transduction pathway central to transmitting signals from outside the cell to the cell nucleus and influencing fundamental biological mechanisms like cell growth, division, and specialization. This signaling pathway has recently received much attention in [...] 1168 7892 |
Cryptic Resilience: Decoding Molecular Networks in Pearl Millet for Enhanced Heat Stressby
Faten Dhawi
Abstract Pearl millet (Pennisetum glaucum), a vital cereal crop renowned for its drought tolerance, is a cornerstone for smallholder farmers in arid and semi-arid regions, ranking as the fifth most significant cereal globally. Despite its resilience, the molecular mechanisms underlying i [...] 1761 8254 |
Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndromeby
Amanda Pong
and
Pavel Klein
Abstract Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. Epilepsy develops in ~90% folllowed by drug [...] 1029 6163 |
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