by Mohsen Akbaribazm

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

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 [...]

by Nadia A. Abdelmegeed Abdelwahed

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

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 [...]

by OBM Genetics Editorial Office

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

An Interview with Dr. Masahiro Sato

by OBM Genetics Editorial Office

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

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 [...]

by 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

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 [...]

by 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

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 [...]

by 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

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 [...]

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

Received: 24 November 2024;  Published: 10 June 2025;  doi: 10.21926/obm.genet.2502296

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 [...]

by 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

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 [...]

by Arbnora Batalli-Kepuska  , Lidvana Spahiu  , Emir Behluli  and Gazmend Temaj

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

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 [...]

by Giuseppe Merra

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

by Amanda Pong  and Pavel Klein

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

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 [...]

by OBM Genetics Editorial Office

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

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 [...]

by 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

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 [...]

by 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

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 [...]

by Yohanes Ridora  , Niken Trisnowati  and Retno Danarti

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

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 [...]

by 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

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 [...]

by 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

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 [...]

by 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

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 [...]

by Faten Dhawi  and Shefin Basheera

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

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 [...]

by 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

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 [...]

by Leila Zirak  and Reza Khakvar

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

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 [...]

by 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

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 [...]

by Lunawati Lo Bennett

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

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 [...]

by Corrado Angelini

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

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 [...]

by José Ramón Alonso-Fernández

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

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 [...]

by Majid Monajjemi  , Fatemeh Mollaamin  and Ahmad R. Alsayed

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

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 [...]

by OBM Genetics Editorial Office

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

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 [...]

by 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

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, [...]

by 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

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 [...]

by Zeki Kara  and Ahmet Beyatlı

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

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 [...]

by Fatemeh Mollaamin  and Majid Monajjemi

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

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 [...]

by Oluwafemi G. Oluwole

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

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 [...]

by 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

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 [...]

by Alessandro Stasi  and Krittinon Choavaratana

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

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 [...]

by 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

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, [...]

by Bolanle Adenike Akinsanola  , Matthew Iyobhebhe  , Tobiloba Christianah Maduakolam-Aniobi  , Tomilola Debby Olaolu  , Damilare Emmanuel Rotimi  and Oluwafemi Adeleke Ojo

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

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

by Phumzile Mkhize  and Phetole Mangena

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

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 [...]

by Fatemeh Mollaamin  , Majid Monajjemi  and Ahmad R. Alsayed

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

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 [...]

by Walter Calderón Gerstein  , Gabriela Torres Samaniego  and Kevin Pazos Sovero

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

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 [...]

by Khevin Jade Gumaru  , Harley Rodriguez  and Ourlad Alzeus G. Tantengco

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

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

by Thomas Liehr  and Peining Li

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

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

by 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

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. [...]

by Hela Mhiri  , Manel Chalbi  , Nesrine Dridi  , Faten Ouled Brahim  and Med Ali Chemli

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

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

by Nadia A. Abdelmegeed Abdelwahed

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

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 [...]

by 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

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 [...]

by 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

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 [...]

by Takayoshi Kiba

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

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) [...]

by 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

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 [...]

by Lucia Urbanová  , Silvia Farkasova  , Ivana Speváková  , Matúš Kyseľ  , Veronika Šimora  , Miroslava Kacaniova  and Jana Žiarovská

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

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