by Rafaele Tavares Silvestre  , Mariana Chantre-Justino  , Mariana Alexandre Bragante  , Paula Lacorte de Carvalho  , Lucas Delmonico  , Gilda Alves  , Maria Helena Ornellas  and Dirce Bonfim de Lima

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

Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood leukocytes from 78 PLWH on ART, compared with 163 HIV-uninfected controls. The PLWH group was stratified into three subgroups: HIV-only (n = 57), HIV with AIDS-defining cancer (ADC, n = 9), and HIV with NADC (n = 12). Quantitative p [...]

by Manal Hadi Ghaffoori Kanaan  , Beom-Jin Lee  , Sura Saad Abdullah  , Chulhun Park  , Abdolmajid Ghasemian  and Steward Mudenda

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

Stem cell-derived exosomes (SDEs) have emerged as revolutionary mediators in cancer immunotherapy, offering unprecedented potential to reprogram the immunosuppressive tumor immune microenvironment (TIME). These nano-sized extracellular vesicles, laden with non-coding RNAs (ncRNAs), serve as natural biocompatible carriers, capable of orchestrating immune cell dynamics, stromal remodeling, and tumor cell fate. Unlike their tumor-derived counterparts, which often propagate oncogenic signals, SDEs uniquely harbor immun [...]

by Irina G. Udina  , Marina A. Gubina  and Alesya S. Gracheva

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

The purpose of the study was to consider the distribution of Y-chromosome DNA markers in samples from the populations of the three largest megalopolises (Moscow, Saint Petersburg, and Novosibirsk) in the Russian Federation, in the context of developing genetic databases. The study aimed to compare the frequency profiles of 18 Y-chromosome STRs (Short tandem repeats) and the level of genetic differentiation. Based on FST estimates for the distribution of these 18 Y-chromosome STRs, the senior generations of Moscow a [...]

by Rustam Nailevich Mustafin

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

Tuberous sclerosis (TS) is one of the most common hereditary tumor syndromes, occurring with an average incidence of 1 in 9,000 newborns worldwide. The disease manifests itself through the development of tumors of the brain, kidneys, heart, lungs, and skin, along with characteristic depigmented spots. Tuberous sclerosis is caused by germline variants in the TSC1 (encoding hamartin) and TSC2 (encoding tuberin) genes. The hamartin-tuberin protein complex, together with the TBC1D7 molecule, inhibits the serine/threoni [...]

by OBM Genetics Editorial Office

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

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web of Sci [...]

by Konstantinos Agiannitopoulos  and Elisavet Kouvidi

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

Leukemia is a heterogeneous group of hematologic malignancies characterized by the dysfunctional proliferation of white blood cells in the bone marrow. Genetic alterations are important risk factors for the development and progression of leukemia, and their detection is crucial. Although many genetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR), have provided valuable information, they all have the limitation of incomplete genomic coverage. The ev [...]

by Marcella Anggatama  , Hanggoro Tri Rinonce  , Dwinanda Almira Rizkiani  , Eddy Supriyadi  , Raden Roro Rini Andayani  , Yohanes Widodo Wirohadidjojo  and Retno Danarti

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

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by early-onset poikiloderma and multisystem abnormalities. Diagnosis is often confirmed through genetic testing, but in many resource-limited settings, molecular studies are unavailable, necessitating reliance on clinical and histopathological evaluation. We report a 1-year-old boy referred for assessment of progressive pigmented skin lesions. The patient was referred by a pediatrician with febrile neutropenia, bicytopenia suspicio [...]

by Mahintaj Dara  , Negar Azarpira  , Nasrin Motazedian  , Mahdokht Hossein-Aghdaie  , Seyed-Mohsen Dehghani  , Bita Geramizadeh  and Elaheh Esfandiari

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

Biliary atresia (BA), a severe pediatric liver disease of unknown etiology, causes neonatal jaundice, progressive cholestasis, and life-threatening liver fibrosis. Emerging evidence suggests microRNAs (miRNAs) – small non-coding RNAs that regulate gene expression by binding target mRNAs may play a role in BA pathogenesis. Circulating miRNAs have shown diagnostic potential for various diseases, prompting our investigation of miR-21 and miR-19 as potential biomarkers in BA. We conducted a case-control study comparing [...]

by Recai Aci  , Adem Keskin  , Özlem Sezer  , Taner Karakaya  , Samet Semiz  and Melek Bilgin

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

This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), were also analyzed. Seventy HLA-B51–positive BD patients and 114 HLA-B51–negative healt [...]

by Masahiro Sato  , Emi Inada  , Satoshi Watanabe  , Issei Saitoh  , Naoko Kubota  , Yoko Iwase  , Kazunori Morohoshi  and Shingo Nakamura

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

An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such episomal vectors are usually based on sequences from DNA viruses such as bovine papillomavirus 1 and Epstein-Barr virus. When cells are transfected with an episomal vector harboring a drug-resistance gene and subsequently [...]