P3 - Articles - Open Access, Fast Publication, Free Publication, Timeliness, Ground-breaking research, Peer review, LIDSEN, Science Journal, Engineering Journal, Health Science Journal, Crossref Indexed, Google Scholar Indexed, Low APC, Original Research Articles

Table of Content

Open Access Review

Spinal Muscular Atrophy: An Overview

Steven D. Ross ,

Sydney Rudowski and

Shibani Kanungo

Received: 10 April 2023; Published: 14 June 2023; doi: 10.21926/obm.genet.2302182

Abstract

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Futur [...]

1465 11438

Open Access Review

From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian Reserve

Florence Naillat

Received: 25 August 2021; Published: 26 April 2022; doi: 10.21926/obm.genet.2202153

Abstract

In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functiona [...]

1464 11383

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Shaymaa Azawi ,

Lisa-Marie Barf ,

Thomas Liehr ,

Stefanie Kankel and

Martina Rincic

Received: 25 March 2022; Published: 27 June 2022; doi: 10.21926/obm.genet.2202159

Abstract

After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor banding-based molecular cytogenetics. A slightly hyperdiploid karyotype with 43 chromosomes was described. The main aberrations comprised several unbalanced translocat [...]

1453 8896

Open Access Original Research

Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based Study

Anju Khairwa

Received: 14 September 2022; Published: 22 November 2022; doi: 10.21926/obm.genet.2204172

Abstract

Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by comparing histological findings. The index study is a retrospective cross-sectional analytical study. The data was collected at the pathology department from May 2017 to December 2019 according to hospital ethical protoco [...]

1451 9529

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

Kosuke Shigematsu ,

Yukiko Mikami ,

Mamiko Shinsaka ,

Masanobu Kinoshita and

Yasushi Takai

Received: 29 June 2022; Published: 28 March 2023; doi: 10.21926/obm.genet.2301179

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM and 3 non-CDM patients. The correlation betwee [...]

1450 13668

Open Access Review

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

Penko Spetsov and

Nadia Daskalova

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

Abstract

High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification of HMW-GS is the prerequisite for pyramiding high-quality glutenin genes. The present review is designed to list all published HMW-GS alleles in Triticum species and triticale (A- and B genomes), focusing on methods for their identification. T. monococcum is characterized by 37 alleles at the Glu-1 locus versus fou [...]

1445 7082

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Eduardo Garrido ,

Javier Botella de Maglia ,

Oriol Sibila and

Gustavo Zubieta-Calleja

Received: 18 July 2022; Published: 09 September 2022; doi: 10.21926/obm.genet.2203163

Abstract

High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

1440 10679

Open Access Review

MiRNAs as Promising Therapeutic Targets for Breast Cancer

Morkoss M. Fakhry ,

Asmaa R. Abdel-Hamed ,

Noha M. Mesbah ,

Dina M. Abo-Elmatty ,

Mohamed M. Sayed-Ahmed ,

Abdel-Moneim M. Osman and

Ola S. Ahmed

Received: 27 November 2023; Published: 26 February 2024; doi: 10.21926/obm.genet.2401215

Abstract

Breast cancer (BC) is the most common cause of cancer-related death and is the malignancy most frequently diagnosed in females worldwide. BC incidence is predicted to continue increasing worldwide. Without interventions, annual new cases will reach over 3 million by 2030. Genetic abnormalities account for almost 70% of all BC cases worldwide. Biological pathways implicated include non-coding RNAs (ncRNAs). MiRNAs are small non-coding RNA molecules that play a role in post-transcriptional regulation of gene expressi [...]

1438 9574

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Irina Udina ,

Yurii Vasiliev ,

Vladimir Volobuyev ,

Olga Gulenko and

Alesya Gracheva

Received: 24 December 2021; Published: 27 June 2022; doi: 10.21926/obm.genet.2202158

Abstract

In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-"long" alleles) (rs2234663) provided resistance to the most intensive form of dental caries. The groups of children with DFC (decompensated form of caries) were significantly different from the pooled group SFC (subcompensated form of cari [...]

1425 9457

Open Access Case Report

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

Nydia Rena Benita Sihombing ,

Nani Maharani ,

Agustini Utari and

Tri Indah Winarni

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 [...]

1422 7346

Open Access Review

Molecular Plant Physiology for Model Plants under Abiotic Stress Conditions

Babak Sokouti

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

Abstract

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

1411 9624

Open Access Perspective

Understanding the Regulation of Transcription in Mental Illness

Sean J. O’Sullivan

Received: 17 June 2021; Published: 17 November 2021; doi: 10.21926/obm.genet.2104143

Abstract

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolstered psychiatry. This t [...]

1401 9054

Open Access Research Article

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Negar Noorbakhsh ,

Mina Zamani ,

Alireza Sedaghat ,

Jawaher Zeighami ,

Farangis Foroughi Behbahani ,

Sahere Parvas ,

Alihossein Saberi ,

Mohammad Hamid ,

Roya Ghanavati ,

Gholamreza Shariati and

Hamid Galehdari

Received: 11 October 2022; Published: 12 May 2023; doi: 10.21926/obm.genet.2302181

Abstract

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of the pyrin protein. In this research, we aimed to examine the entire exons of MEFV fo [...]

1399 9141

Open Access Original Research

The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships

Bernard R. Baum and

Douglas A. Johnson

Received: 07 January 2022; Published: 24 April 2022; doi: 10.21926/obm.genet.2202152

Abstract

We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA NTS, greatly facilitates analysis. We investigated the potential of defining unit classes in other plant genera and several animal genera as a step towards future phylogenetic analyses. Our results demonstrate that in in [...]

1383 8199

Open Access Original Research

Investigating Cytogenetic Profiles in Couples Experiencing Recurrent Implantation Failure Post in vitro Fertilization

Bojana Petrovic ,

Milica Komnenic Radovanovic ,

Nikolina Erceg ,

Srboljub Milicevic and

Marija Dusanovic Pjevic

Received: 22 November 2023; Published: 17 January 2024; doi: 10.21926/obm.genet.2401211

Abstract

This study evaluates how chromosomal factors affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of infertility and unsuccessful IVF treatment. Among these cases, nine (9%) displayed aberrant chromosomal patterns, including balanced translocations (5%), sex chromosome deletions [...]

1373 6590

Open Access Review

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

Monday Uchenna Obaji ,

Angus Nnamdi Oli and

Malachy C Ugwu

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 [...]

1372 11430

Open Access Case Report

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

Lamiae Afif ,

Zhour El Amrani ,

Aziza Sbiti ,

Ilham Ratbi ,

Imane Cherkaoui Jaouad ,

Youssef El Kadiri ,

Thomas Liehr ,

Abdelaziz Sefiani and

Abdelhafid Natiq

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

Abstract

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

1371 6542

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

Negar Gorjizadeh ,

Payam Saadat ,

Abbas Azadmehr and

Saeed Irian

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 [...]

1359 4291

Open Access Original Research

Molecular Study on Y Chromosome Microdeletion in Male Infertility: A Cross-Sectional Design in Indonesian Men

Dicky Moch Rizal ,

Ika Setyawati ,

Arya Adiningrat ,

Agus Widiyatmoko ,

Supriyatiningsih and

Nandia Septiyorini

Received: 09 October 2023; Published: 27 February 2024; doi: 10.21926/obm.genet.2401216

Abstract

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Stu [...]

1351 8876

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Anna A. Pendina ,

Mikhail I. Krapivin ,

Irina D. Mekina ,

Irina V. Aleksandrova ,

Yanina M. Sagurova ,

Evgeniia M. Komarova ,

Mariia A. Ishchuk ,

Andrei V. Tikhonov ,

Olesya N. Bespalova ,

Alexander M. Gzgzyan ,

Igor Yu. Kogan and

Olga A. Efimova

Received: 13 May 2022; Published: 23 September 2022; doi: 10.21926/obm.genet.2203164

Abstract

This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

1351 8209

Open Access Original Research

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

Somayeh Alimoradi Askari ,

Mehdi Nasr Esfahani ,

Kowsar Shirazi ,

Arman Nasr Esfahani ,

Hossein Zeinalzadeh-Tabrizi and

Mojtaba Mohammadi

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

Abstract

Garlic (Allium sativum), cultivated worldwide for its medicinal and nutritional value, faces challenges due to diseases caused by various pathogens. In this study, eleven garlic genotypes from Iran and one from China were selected and sown under natural infection rendered by the rust fungus (Puccinia alli) over two consecutive years. Subsequently, disease distribution and severity, percentage of infection and susceptibility of different garlic genotypes to rust disease were investigated. The results showed that gen [...]

1346 6599

Open Access Original Research

Artocarpus Communis Seed Regulates P53, IRS, HsD17β2, FTO, and CYP11a Genes in Polycystic Ovarian Syndrome Rats

Akingbolabo Daniel Ogunlakin ,

Oluwafemi Adeleke Ojo ,

Chimzi David Onu-Boms ,

Oluwafemi Samson Afolayan ,

Peluola Olujide Ayeni ,

Idayat Adeola Akinwumi ,

Opeyemi Josephine Akinmurele ,

Great Oluwamayokun Adebodun ,

Damilare Iyinkristi Ayokunle ,

Owoola Azeezat Ambali ,

Omolola Adenike Ajayi-Odoko ,

Oluwaseun Abigael Ogunlakin and

Mubo Adeola Sonibare

Received: 20 November 2023; Published: 20 February 2024; doi: 10.21926/obm.genet.2401213

Abstract

Polycystic ovarian syndrome (PCOS) is a prevalent endocrine illness that affects 5-10% of reproductive women globally. It is a multifaceted hormonal disorder characterized by the involvement of numerous molecular mechanisms that contribute to its development. This study investigates the effect of Artocarpus communis seed on the hormonal imbalance and P53, IRS, HsD17β2, FTO, and CYP11a genes expression in the ovaries of letrozole-induced polycystic ovarian syndrome rats. To induce PCOS in 30 female Wistar rats, [...]

1341 5594

Open Access Editorial

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

Giuseppe Merra

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

1329 6418

Open Access Review

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

Leila Naseri ,

Mohsen Akbaribazm and

Mozafar Khazaei

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

Abstract

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

1326 9990

Open Access Editorial

Acknowlegement to Reviewers of OBM Genetics in 2020

OBM Genetics Editorial Office

Received: 07 January 2021; Published: 07 January 2021; doi: 10.21926/obm.genet.2101122

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. 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 receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition di [...]

1307 6288

Open Access Original Research

Comparison of Sputum and Oropharyngeal Microbiome Compositions in Patients with Non-Small Cell Lung Cancer

Elizaveta Baranova ,

Vladimir Druzhinin ,

Ludmila Matskova ,

Pavel Demenkov ,

Valentin Volobaev and

Alexey Larionov

Received: 01 August 2022; Published: 07 November 2022; doi: 10.21926/obm.genet.2204169

Abstract

Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave differently in the microbiome of NSCLC patients and healthy subjects. In the study, the taxonomic composition of the sputum and oropharyngeal microbiomes of 23 male p [...]

1304 7322

Open Access Review

Mycobacterium Tubercular Mediated Inflammation and Lung Carcinogenesis: Connecting Links

Abhay Vashishth ,

Mohd Shuaib ,

Tanya Bansal and

Shashank Kumar

Received: 03 September 2022; Published: 21 June 2023; doi: 10.21926/obm.genet.2302183

Abstract

Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the link between tuberculosis and lung cancer exist. It has been proposed that tuberculosis causes chronic inflammation, which increases the risk of lung cancer by creating [...]

1294 8436

Open Access Original Research

Reciprocal Translocations in Prenatal Diagnosis: Latin America Data

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 [...]

1292 6597

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

Mumtarim Haque Mim ,

Biswajit Das ,

Sheikh Mahfuja Khatun ,

Sadia Akter ,

Jannatul Naim ,

Mohammad Anowar Hossain ,

Mohammad Pessarakli and

Mohammad Anwar Hossain

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 [...]

1286 6040

Open Access Research Article

The Use of Transgenic Resistant Plums in Transgrafting Fails to Confer Plum Pox Virus Resistance in Prunus

Michel Ravelonandro and

Pascal Briard

Received: 16 January 2023; Published: 25 July 2023; doi: 10.21926/obm.genet.2303189

Abstract

In order to sustain productivity, growers are implementing fruit trees to provide plum pox virus (PPV) resistant varieties. Unfortunately, classical breeding approaches have failed to develop resistant varieties. RNA interference (RNAi) silencing, as an alternate strategy, has been shown to be an efficient approach to combat PPV disease (sharka). PPV resistance based on RNAi has been demonstrated in natural conditions for over 10 years. Experiments using graft inoculation in high-containment greenhouses show that s [...]

1282 166824

Open Access Case Report

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

Khaliunaa Bayanbold ,

Noel N. Tolbanen ,

John A. Bernat and

Jaime Nagy

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

Abstract

Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identified a ring chromosome containing portions of chromosomes 14 and 17 in [...]

1275 6832

Open Access Review

Exploring the Regenerative Potential of Stem Cells for Treating Eye Diseases: A Review of the New Findings

Mohsen Akbaribazm

Received: 27 September 2023; Published: 31 January 2024; doi: 10.21926/obm.genet.2401212

Abstract

The escalating prevalence of vision loss due to eye diseases has instigated a quest for innovative therapies, given that conventional approaches often fall short in repairing and regenerating damaged eye tissues, particularly the retina. Stem cell-based interventions have emerged as a promising avenue, with numerous studies in animal models and human trials exploring their potential to enhance visual acuity. Beyond addressing conditions like age-related macular degeneration (AMD) and diabetic retinopathy (DR), stem [...]

1275 6704

Open Access Research Article

An Evidence of Drug Repurposing for COVID-19 Pandemic Based on In silico Investigation from Phenolic Derivatives of Silybum Marianum Against SARS-Cov-2 Proteins

Swaraj Mohanty ,

Soumya Lipsa Rath ,

Poornima Sharma and

Yasmin Ahmad

Received: 11 January 2023; Published: 04 July 2023; doi: 10.21926/obm.genet.2303186

Abstract

The outbreak of coronavirus disease-2019 (COVID-19) had a striking impact on the worldwide healthcare system within a very short period. The availability of a large number of clinical data on SARS-CoV-2, conventional precautionary majors, and treatment strategies with the existing therapeutic antiviral drug molecules also fails to control progression and disease transmission among the population. Hence, we implemented pharmacoinformatics approaches to facilitate the drug discovery by repurposing naturally available [...]

1271 8526

Open Access Original Research

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

Majid Monajjemi ,

Fatemeh Mollaamin and

Ahmad R. Alsayed

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 [...]

1258 5659

Open Access Review

Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

Marie K. Norris and

Shibani Kanungo

Received: 29 June 2023; Published: 10 October 2023; doi: 10.21926/obm.genet.2304196

Abstract

The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

1255 10443

Open Access Review

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

Corrado Angelini

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

Abstract

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

1250 5734

Open Access Editorial

Another Productive Year

Joep Geraedts

Received: 13 January 2020; Published: 14 January 2020; doi: 10.21926/obm.genet.2001102

Abstract

At the beginning of a new year it is always good to look both backwards and forwards and to highlight a few items that are relevant with respect to the long-term development of our journal. As everybody knows, the principle of open access publishing is that the authors pay fees (the article‐processing charges or APCs) to publish in the journal rather than that the readers pay subscription costs for the journal. Three years ago, OBM Genetics started as an open access journal publishing its first papers totally free [...]

1247 9218

Open Access Original Research

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

Emad Fadhal

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

Abstract

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

1243 8341

Open Access Review

Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers

Ashley Lahr ,

Nadene Henderson ,

Lee Williams ,

Georgianne Arnold and

Damara Ortiz

Received: 14 June 2023; Published: 25 September 2023; doi: 10.21926/obm.genet.2303194

Abstract

Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

1239 11055

Open Access Original Research

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

Phumzile Mkhize and

Phetole Mangena

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 [...]

1236 5048

Open Access Case Report

Progressive Pseudo-Rheumatoid Dysplasia a Rare Genetic Musculoskeletal Condition Causing Crippling Disability in a Young Boy- a Case Report

Sumant Chavda ,

Subhranshu Sekhar Kar and

Alyaa Kamal Al Ramah

Received: 05 July 2023; Published: 30 October 2023; doi: 10.21926/obm.genet.2304202

Abstract

Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities with a relatively high prevalence in Middle Eastern countries. Camptodactyly and platyspondyly are the standard features found in this condition. We present a very y [...]

1236 7091

Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Zahra Iran Pour Mobarakeh ,

Mansoureh Nickbakht ,

Susan Sabbagh ,

Maryam Khorramizadeh and

Marzieh Amiri

Received: 02 January 2023; Published: 29 June 2023; doi: 10.21926/obm.genet.2302184

Abstract

Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in Iran. Therefore, this study aimed to explore the relationship between hearing loss risk factors and Automated Auditory Brainstem Response (AABR) and Transient-Evok [...]

1231 7306

Open Access Review

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

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

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 [...]

1229 4848

Open Access Original Research

Characterization of ‘Ca. Phytoplasma asteris’, ‘Ca. Phytoplasma australiense’ and ‘Ca. Phytoplasma mali’ Associated with Russian Olive Witches’-Broom Disease in Iran Using Next-Generation Sequencing

Leila Zirak and

Reza Khakvar

Received: 31 August 2023; Published: 04 December 2023; doi: 10.21926/obm.genet.2304204

Abstract

Russian olive trees showing witches’-broom disease symptoms in urban green spaces and orchards in northwest Iran were sampled for phytoplasma detection. PCR assays and Sanger sequencing of 16S rRNA gene confirmed that ‘Ca. Phytoplasma asteris’ was associated with Russian olive witches’-broom disease. For genomic characterization of phytoplasma associated with disease, the total DNA of an infected tree was analyzed by Illumina next-generation sequencing (NGS). The NGS analysis generated 46011 [...]

1229 5855

Open Access Original Research

Cytogenetic Effects of the Neonicotinoid Insecticides Nuprid 200 SL and Calypso 480 SC on Plant Model System

Ivan Stoyanov ,

Penka Vasileva ,

Teodora Staykova ,

Teodora Popova and

Evgeniya N. Ivanova

Received: 22 June 2023; Published: 14 December 2023; doi: 10.21926/obm.genet.2304208

Abstract

Data from the present study indicate that the neonicotinoid insecticides Nuprid 200 SL (with the active substance imidacloprid) and Calypso 480 SC (with the active substance thiacloprid) reduce the mitotic activity by inhibiting cell division and increasing chromosomal aberrations in the cells of the root apical meristem of Allium cepa L. The tested solutions of pesticides cause a wide range of anomalies associated with disorders in forming the cell's division apparatus and the integrity of chromosomes. The compara [...]

1222 6555

Open Access Review

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

Subhranshu Sekhar Kar ,

Rajani Dube ,

Biji Thomas George and

Malay Jhancy

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 [...]

1216 6988

Open Access Original Research

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

Lingzi Zhong ,

Madison A. Krall ,

Brianne M. Daly ,

Wendy Kohlmann and

Kimberly A. Kaphingst

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 [...]

1204 4766

Open Access Review

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

Meshari A. Alzahrani ,

Mohammad A. Alghafees ,

Lama H. Aldosari ,

Abdulaziz K. Almaymuni ,

Abdulltaif M. Altalhah ,

Mohammed M. Abualgasem and

Basel O. Hakami

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

Abstract

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

1199 12402

Open Access Short Review

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

Anna Passaro ,

Antonio Zullo ,

Mariacarla Di Gioia ,

Enza Curcio and

Fabrizio Stasolla

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

Abstract

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

1196 8982

Open Access Interview

An Interview with Dr. Masahiro Sato

OBM Genetics Editorial Office

Received: 13 December 2022; Published: 14 December 2022; doi: 10.21926/obm.genet.2204174

Abstract

An Interview with Dr. Masahiro Sato

1195 6661

Open Access Research Article

An Efficient Method for Micropropagation of Red-List Herbaceous Plant Species (Hedysarum cretaceum)

Vasiliy A. Chokheli ,

Semyon D. Bakulin ,

Olga Yu. Ermolaeva ,

Vishnu D. Rajput ,

Anatoly S. Azarov ,

Arpna Kumari ,

Victoriya V. Stepanenko ,

Anastasia A. Bushkova ,

Pavel A. Dmitriev ,

Marcos Edel Martinez-Montero and

Tatiana V. Varduni

Received: 11 November 2022; Published: 20 July 2023; doi: 10.21926/obm.genet.2303187

Abstract

Hedysarum cretaceum Fisch is a critically endangered herbaceous species with high ornamental and phytomeliorative properties; thus, it needs urgent conservation and protection methods to conserve. In the present study, an efficient method for microtonal propagation of H. cretaceum is developed. The seed sterilization was optimized as treatment with 96% alcohol (2 min) and burned (1 sec) through a burner flame. Murashige and Skoog (MS) medium with the addition of 0.5 mg/L 6-Benzylaminopurine (BAP) (shoots per explan [...]

1183 6984

Open Access Review

The Actual Situation of Covid-19 Infection at High Altitudes in Perú

Fausto Garmendia-Lorena

Received: 03 August 2022; Published: 12 December 2022; doi: 10.21926/obm.genet.2204173

Abstract

This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú. An observational, descriptive, retrospective and longitudinal study based on information from the Peruvian Ministry of Health, COVID-19 Situational Room, warning from the National Epidemiology Center, Prevention and Disease Control, and the Panamerican Health Organization (PAHO) was conducted to analyze the occurrence of the COVID-19 pandemic in Perú from the beginning of the pandemic until March 7, [...]

1181 7762

Open Access Review

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

Buti Obaid Saeed Alfalahi ,

Imane Lamdjad ,

Mustafa Alnujaifi ,

Noaman Atallah Alheety and

Abdul Qayyum

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

Abstract

Understanding the impact of melatonin (N-acetyl-5-methoxytryptamine) on plant gene expression is crucial for unlocking its full potential as a tool for crop improvement and stress tolerance. Melatonin has emerged to have several influences on the transcriptional activity of numerous genes, helping to orchestrate plant responses to environmental cues. Furthermore, it has been shown that melatonin signaling pathways control downstream gene expression to ensure proper plant growth and development. Therefore, clearing [...]

1180 8375

Open Access Case Report

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

Hicham Bouchahta ,

Zhour EL Amrani ,

Siham Chafai Elalaoui ,

Fatima Ouboukss ,

Aziza Sbiti ,

Laila Sbabou ,

Thomas Liehr ,

Abdelaziz Sefiani and

Abdelhafid Natiq

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 [...]

1179 5875

Open Access Original Research

Examining the Relationship between Attitudes Towards Genomic Technology and Genetic Entrepreneurial Intention among Egyptian Healthcare Professionals

Nadia A. Abdelmegeed Abdelwahed

Received: 24 September 2023; Published: 24 October 2023; doi: 10.21926/obm.genet.2304199

Abstract

In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and collected cross-sectional data from 276 health professionals using convenience sampling. Using structural equation modeling (SEM) through SmartPLS 4, the findings sug [...]

1175 6687

Open Access Original Research

Integrated Web Application (Snips2HLA-HsG) Development for Sample Preparation and Model Creation for HLA Allele Prediction with the SNP Data Using HIBAG Package of Bioconductor and R Programming

Balamurugan Sivaprakasam and

Prasanna Sadagopan

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

Abstract

The present study introduces Snips2HLA-HsG, an integrated application designed for SNP genotype analysis and HLA allele type prediction. Leveraging attribute bagging, a powerful ensemble classifier technique from the Bioconductor HIBAG package, Snips2HLA-HsG offers a comprehensive response for genetic analysis. Accessible via https://snips2hla.shinyapps.io/hla_home/, the application distinguishes itself by prioritizing user-friendliness and integrating all-purpose functionalities, including sample preparation, mode [...]

1174 8330

Open Access Research Article

B₅N₁₀ Nanocarrier Functionalized with Al, C, Si Atoms: A Drug Delivery Method for Infectious Disease Remedy

Fatemeh Mollaamin and

Majid Monajjemi

Received: 27 November 2023; Published: 21 February 2024; doi: 10.21926/obm.genet.2401214

Abstract

As proof has recommended a close connection between COVID-19 and neurodegenerative disorders, this article aims to investigate the chloroquine (CLQ) drug as the SARS-CoV-2’s primary protease, which can prevent in vitro viral duplication of all diverse experiments to present. CLQ is an anti-viral drug enlarged by Pfizer, which can operate as an orally effective 3C-like protease inhibitor. In this study, CLQ has been assessed for its effectiveness against coronavirus by trapping it within a boron nitride nanoca [...]

1159 5266

Open Access Original Research

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

Tahere Mohammadpour and

Reza Mohammadzadeh

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

Abstract

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

1158 7627

Open Access Interview

An Interview with Dr. Mark Stoneking

OBM Genetics Editorial Office

Received: 07 July 2022; Published: 13 July 2022; doi: 10.21926/obm.genet.2203160

1154 7914

Open Access Short Review

Normal and Aberrant Muscle Tissue Healing, Learning from Health and Disease

Matthew Kostek and

Siyu Liu

Received: 28 March 2023; Published: 19 September 2023; doi: 10.21926/obm.genet.2303192

Abstract

Human skeletal muscle exhibits remarkable plasticity, being responsive to chemical, mechanical, metabolic, and inflammatory stress. When the homeostatic disturbance is below a threshold of significant damage, the muscle responds by modifying metabolic activity, cell size/shape, and structure, thereby normalizing cellular function. If the disturbance causes significant damage, skeletal muscle, along with a precisely choreographed response from the immune system, can regenerate. Very few pathological conditions inhib [...]

1149 7712

Open Access Original Research

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

Faten Dhawi and

Shefin Basheera

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 [...]

1149 6033

Open Access Original Research

Problems of Motor Development of 6-7 Years Old Children with Autism Spectrum Disorders

Lyudmila N. Voloshina ,

Viktor L. Kondakov ,

Karina E. Panasenko ,

Lyudmila K. Buslovskaya and

Dmitry V. Shcherbin

Received: 21 September 2023; Published: 11 December 2023; doi: 10.21926/obm.genet.2304205

Abstract

According to modern research, there is a high risk of motor development disorders in children 6-7 years old with autism spectrum disorders. This determines the relevance of studying the problem of individual differences in motor development of children 6-7 years old with autism spectrum disorders, the need for objective assessment of its level, and the determination of group and individual strategies for correction of motor development. The study identifies and evaluates the motor development problems of 6-7-year-o [...]

1131 5491

Open Access Original Research

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

Firas AL-Rshoud ,

Lina Almahmoud ,

Nagham Younis ,

Rnad AL. Ajarmeh and

Ahmad M. Fares

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

Abstract

This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), number of laser pulses, assessment of embryo survival after biopsy, and degeneration rate. An online cross-sectional survey was conducted in November 2022. The collected data presented the perception of embryologists (>10 years e [...]

1128 11150

Open Access Original Research

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

Dagmar Moravčíková ,

Jana Žiarovská and

Alžbeta Žiarovská

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 [...]

1125 4076

Open Access Case Report

Novel FLNC Gene Variant Associated with Hypertrophic Cardiomyopathy

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

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 [...]

1119 6188

Open Access Research Article

Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19

Walter Calderón-Gerstein ,

Gabriela Torres-Samaniego ,

Kevin Pazos-Sovero ,

Mirella Calderón-Anyosa ,

Merly Quisurco-Cárdenas and

Viviana Dorregaray-Lizárraga6

Received: 01 December 2022; Published: 19 April 2023; doi: 10.21926/obm.genet.2302180

Abstract

This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude population. A retrospective, longitudinal study reviewed medical records between January and July of 2021 at the Daniel Alcides Carrión Regional Teaching Clinical Surgical Hospital in Huancayo. Categorical variables were anal [...]

1113 7741

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

Mohammad-Reza Ghasemi ,

Maryam Mirahmadi ,

Hadi Bayat ,

Mohammad Miryounesi ,

Reza Mirfakhraie ,

Shadab Salehpour ,

Raheleh Tangestani ,

Faezeh Sherafat ,

Hasan Roudgari and

Milad Gholami

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 [...]

1110 6344

Open Access Interview

An Interview with Dr. Joep Geraedts

OBM Genetics Editorial Office

Received: 17 February 2022; Published: 22 February 2022; doi: 10.21926/obm.genet.2201148

1110 7016

Open Access Editorial

A Healthy and Happy 2019

Joep Geraedts

Received: 15 January 2019; Published: 15 January 2019; doi: 10.21926/obm.genet.1901059

Abstract

A healthy and happy 2019

1110 6736

Open Access Original Research

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

Fatemeh Mollaamin ,

Majid Monajjemi and

Ahmad R. Alsayed

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

Abstract

The potential and selective inhibitors of protein tyrosine phosphatase 1B (PTP1B) are therapeutically useful in treating type 2 diabetes. N-Benzoyl-L-glutamyl-[4-phosphono(difluoromethyl)]-L-phenylalanine-[4-phosphono(difluoro-methyl)]-L-phenylalanineamide (BzN-EJJ-amide) (BGD) which is the ligand of 1LQF protein code extracted from protein data bank (PDB) is an inhibitor of PTP-1B that indicates selectivity over several protein tyrosine phosphatases. In this research, the interaction between the anti-diabetic drug [...]

1110 5020

Open Access Case Report

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

Yohanes Ridora ,

Niken Trisnowati and

Retno Danarti

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

Abstract

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

1099 6270

Open Access Opinion

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

Amanda Pong and

Pavel Klein

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

Abstract

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

1092 6443

Open Access Original Research

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

Zeki Kara and

Ahmet Beyatlı

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

Abstract

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

1075 5296

Open Access Review

Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic Leukemia

Arbnora Batalli-Kepuska ,

Lidvana Spahiu ,

Emir Behluli and

Gazmend Temaj

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

Abstract

Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. The use of blinatumomab for treating R/R B-ALL has shown to be very efficient, especially as a bridge tool to hematopoietic stem cell transplantation (HSCT). The response to blinatumomab treatment ranged from 69% after two cycles in phase II [...]

1073 6491

Open Access Concept Paper

Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

José Ramón Alonso-Fernández

Received: 21 March 2023; Published: 30 October 2023; doi: 10.21926/obm.genet.2304201

Abstract

The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine samp [...]

1072 5707

Open Access Editorial

Acknowledgement to Reviewers of OBM Genetics in 2021

OBM Genetics Editorial Office

Received: 05 January 2022; Published: 06 January 2022; doi: 10.21926/obm.genet.2201144

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. 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 receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

1068 6644

Open Access Original Research

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

Lunawati Lo Bennett

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 [...]

1053 5816

Open Access Review

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

Havva Özgen Eyüpoğlu ,

Erol Eyüpoğlu and

Nedime Serakinci

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

Abstract

Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. This communication dis [...]

1046 6890

Open Access Case Report

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

Mohammad-Reza Ghasemi ,

Maryam Mirahmadi ,

Hadi Bayat ,

Morteza Sheikhi Nooshabadi ,

Sanaz Jamshidi ,

Shadab Salehpour ,

Reza Mirfakhraie ,

Fatemeh Fazeli ,

Mohammad Miryounesi and

Milad Gholami

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 [...]

1042 6086

Open Access Review

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

Alessandro Stasi and

Krittinon Choavaratana

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 [...]

1037 5250

Open Access Original Research

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

Shayan Balkhi ,

Marie Saghaeian Jazi ,

Nader Mansour Samaei ,

Nahid Rezaie and

Mahtab Farahmandrad

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 [...]

1035 4544

Open Access Original Research

Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Translocations

Ana Luísa Teixeira Fontes ,

Niklas Padutsch ,

Stefanie Kankel and

Thomas Liehr

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

Abstract

Balanced chromosomal rearrangements, including translocations, contribute to infertility, repeated abortions, and/or genetically imbalanced offspring in corresponding carriers. A translocation is usually considered a unique, de novo, or familial event. Besides, some translocations have also been shown to develop multiple times with slightly different or even identical breakpoints; for others, founder effects have been suggested. Here, two known recurrent translocations [t(11;22)(q23.3;q11.21) and der(X)t(X; Y)(p22. [...]

1029 4827

Open Access Original Research

Clinical and Molecular Profile of Dystrophin Gene Deletions in Eastern Morocco

Fatimazahra Smaili ,

Khawla Zerrouki ,

Fatima Ezzahra Aouni ,

Ayad Ghanam ,

Maria Rkain ,

Abdeladim Babakhouya and

Mariam Tajir

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 [...]

1024 6131

Open Access Original Research

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

Nadia A. Abdelmegeed Abdelwahed

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

Abstract

In this quantitative study, the researcher examined the screening strategies used to establish Egyptian women entrepreneurs' attitudes toward genetic technology. Using a questionnaire, the researcher collected data from 318 Egyptian women entrepreneurs. From applying the path analysis through Analysis of Moment Structures (AMOS) version 26.0, this study’s findings demonstrate genomic knowledge’s positive effect on attitudes towards genetic technology (β = 0.176; p = 0.003). The path analysis shows that, on the one [...]

1011 4757

Open Access Original Research

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

Walter Calderón Gerstein ,

Gabriela Torres Samaniego and

Kevin Pazos Sovero

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

Abstract

There is a lack of knowledge regarding the type of lung compromise in high-altitude residents with COVID-19. This study aims to evaluate the lung compromise in chest CT scans of high-altitude dwellers hospitalized with COVID-19. Retrospective study that took place in "Daniel Alcides Carrión" Regional Hospital, located 3,250 meters above sea level in the city of Huancayo, Perú. 464 medical charts and chest CT images of hospitalized patients with confirmed COVID-19 from January to March 2021 were reviewed. The mean a [...]

1005 4989

Open Access Original Research

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

Elena V. Kudryavtseva ,

Sergey N. Fedenev ,

Ilia V. Kanivets ,

Anastasiya N. Troitskaya and

Vladislav V. Kovalev

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

Abstract

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

1000 7227

Open Access Editorial

Treasure Your Exceptions and Submit These to OBM Genetics

Joep Geraedts

Received: 16 January 2017; Published: 10 February 2017; doi: 10.21926/obm.genet.1701001

992 6924

Open Access Case Report

Chromosome 7 Isodisomy in a Child with Silver-Russell Syndrome

Luis A. Méndez-Rosado ,

Alicia Vaglio ,

Roberto Lardoeyt-Ferrer ,

Albertino Candimba-Sebastiao ,

Judith Pupo-Balboa ,

Ivan Y. Iourov and

Alejandro Esperon

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

Abstract

Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficul [...]

992 6321

Open Access Communication

Important Guide for Natural Compounds Inclusion in Precision Medicine

Oluwafemi G. Oluwole

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 [...]

991 5242

Open Access Case Report

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

Nani Maharani ,

Agustini Utari ,

Nydia Rena Benita Sihombing and

Tri Indah Winarni

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

Abstract

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

984 6892

Open Access Case Report

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

Joni Indah Sari ,

Nydia Rena Benita Sihombing ,

Nani Maharani ,

Tri Indah Winarni and

Agustini Utari

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 [...]

982 8768

Open Access Short Report

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

Takayoshi Kiba

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

Abstract

A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone. The complete DNA and RNA were extracted from the cultivated cells as well. Double-stranded cDNA was then synthesized using the RNA template. Sequencing was done using a 3730xl DNA Analyzer. In the present study, c.A1459G (p.T487A) [...]

942 4586

Open Access Interview

An Interview with Dr. Yuri Shavrukov

OBM Genetics Editorial Office

Received: 09 January 2023; Published: 10 January 2023; doi: 10.21926/obm.genet.2301176

Abstract

An Interview with Dr. Yuri Shavrukov

912 7915

Open Access Book Review

Book Review: Small Supernumerary Marker Chromosomes. Basics

Vladimir A. Trifonov

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

Abstract

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

891 4129

Open Access Research Article

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

Matilda Frimpong ,

Michael Kwabena Osei ,

Kingsley Osei ,

Ruth Naa Ashiokai Prempeh ,

Joseph Gyau ,

Isaac Newton Boakye-Mensah ,

Bismark Abugri and

Maxwell Darko Asante

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 [...]

889 5248

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

OBM Genetics Editorial Office

Received: 05 January 2023; Published: 05 January 2023; doi: 10.21926/obm.genet.2301175

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. 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 receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

877 5543

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2023

OBM Genetics Editorial Office

Received: 04 January 2024; Published: 05 January 2024; doi: 10.21926/obm.genet.2401209

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2023. 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 [...]

873 3912

Open Access Review

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

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

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

Abstract

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

872 9257

Open Access Case Report

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

Arianne Llamos-Paneque ,

Isabel Echevarria-Frutos ,

Amaury León-Siosa ,

Tanja Herrmann and

Thomas Liehr

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

Abstract

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

871 5086

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

Mohammadreza Mohammadabadi ,

Amin Khezri ,

Olena Babenko ,

Oleksandr Oleksandrovich Borshch ,

Oleksandr Kalashnyk ,

Iryna Starostenko ,

Sergii Тkachenko ,

Nataliia Klopenko ,

Iryna Tytarenko ,

Ivan Bezpalyi and

Aliakbar Khabiri

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 [...]

829 3195

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