by Tekin Ahmet Serel  , Onur Ertunç  , Merve Meryem Kıran  , Esra Şengül  , Zeynep Ruken Hakkoymaz  and Eda Uysal Aydın

Received: 11 February 2026;  Published: 07 September 2026;  doi: 10.21926/obm.genet.2603357

Tumor mutational burden (TMB) is a critical biomarker associated with the response to immunotherapy in prostate cancer. The heterogeneity of tumors can complicate the prediction of TMB, making reliable detection essential for effective treatment planning. Recent advancements in deep learning (DL) have facilitated the analysis of histopathological images, enabling better predictions of TMB. This study utilized the Cancer Genome Atlas (TCGA) cohort of prostate cancer patients, comprising 580 H&E-stained whole slide i [...]

by Md Arif Sakil  , Shagata Islam Shorna  , Maisha Rahman  , Tahmina Akter  , Prodipto Bishnu Angon  , Arpita Rani Roy  and Mohammed Arif Sadik Polash

Received: 07 October 2025;  Published: 04 September 2026;  doi: 10.21926/obm.genet.2603356

Salinity and drought stresses induced by climate change pose critical threats to global food security, necessitating a comprehensive insight of plant adaptive mechanisms at the genomic level. This review brings together recent advances in identifying genes, regulatory networks, and evolutionary strategies underlying plant responses to osmotic stress. We discuss key transcription factor families (DREB, NAC, MYB, and WRKY), ion transporters (SOS pathway, NHX, and HKT), genes involved in osmolyte biosynthesis, and rea [...]

by Alfonso Pellegrino  and Alessandro Stasi

Received: 16 January 2026;  Published: 27 August 2026;  doi: 10.21926/obm.genet.2603355

This bibliometric review analyzes 387 Scopus-indexed publications (1970-2025) on the relationship between genetics and education, retrieved with the query (“Genetics” AND “Academic Performance”) OR (“Heritability” AND “Education”). Research output was minimal until the 2000s, then expanded rapidly with the rise of twin cohorts and, after 2010, large genome-wide association studies (GWAS) and polygenic prediction. Science mapping reveals three thematic clusters: classical heritability studies of cognitive and academ [...]

by Elham Amjad  and Babak Sokouti

Received: 15 December 2025;  Published: 24 August 2026;  doi: 10.21926/obm.genet.2603354

The pathology of PD is characterized by progressive degeneration of dopaminergic neurons, although the full regulatory network involved in this process is not yet fully established. The present research employed a multi-omic systems biology design, integrating transcriptomic, functional, epigenetic, and microRNA analyses to develop a mechanistic model of neurodegeneration in the substantia nigra. We have determined six differentially expressed genes, such as tyrosine hydroxylase (TH), solute carrier family 18 membe [...]

by Maria Bisba  , Eirini Louizou  , Konstantinos Tzanakis  , Thomas Liehr  and Spiros Vittas

Received: 21 January 2026;  Published: 21 August 2026;  doi: 10.21926/obm.genet.2603353

Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-level mosaic sSMC (8%) was detected during prenatal testing is reported. The sSMC was found in 12 out of 150 metaphases examined by conventional karyotype, followed by molecular cytogenetic analyses ( [...]

by Elisavet Kouvidi  , Georgios Boutsikas  , Marina Kalomiraki  , Maria Devetzoglou  , Foteini Drimaki  , Ioannis Anagnostopoulos  and Evangelia-Faidra Triantafyllou

Received: 31 December 2025;  Published: 17 August 2026;  doi: 10.21926/obm.genet.2603352

The genetic hallmark of Acute promyelocytic leukemia (APL) is the balanced reciprocal translocation t(15;17)(q24;q21), resulting in the PML::RARα fusion gene. Although the majority of APL patients carry the typical t(15;17), variant translocations involving three or more chromosomes have also been described. We report a case of a 59-year-old man showing clinical, morphologic, laboratory, and immunophenotypic findings of APL. Cytogenetic analysis revealed a variant complex 4-point break-three-way translocation invol [...]

by Leena Rawal  and Vamshi Krishna Thamtam

Received: 15 April 2026;  Published: 10 August 2026;  doi: 10.21926/obm.genet.2603351

Acute myeloid leukemia (AML) represents a clinically and genetically heterogeneous group of hematologic malignancies. Among the less frequently encountered cytogenetic abnormalities are jumping translocations (JTs), in which a segment from a donor chromosome relocates to multiple recipient chromosomes. Although uncommon, these events have been described in association with clonal evolution and, in some cases, more aggressive disease behavior. Here, we describe a 49-year-old man who presented with fatigue and genera [...]

by Sarah Ahmed  , Marwa M. Mohammed  , Hiba Mohammed  , Sana Magzoub  and Mona Ellaithi

Received: 04 January 2026;  Published: 03 August 2026;  doi: 10.21926/obm.genet.2603350

Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy influenced by genetic susceptibility and environmental exposures. The XRCC1 Arg399Gln (rs25487) polymorphism has been associated with NPC risk in several populations; however, evidence from African populations remains scarce. This study investigated the association between the XRCC1 Arg399Gln polymorphism and NPC susceptibility in a Sudanese population. A case-control study was conducted including 71 patients with histopathologically confirmed NPC and 71 [...]

by Manel Chalbi  , Rahma Jrad  , Soumaya Kachti  and Mohamed Ali Chemli

Received: 20 December 2025;  Published: 19 July 2026;  doi: 10.21926/obm.genet.2603349

Epidermolysis bullosa (EB) is a group of rare, genetically determined disorders characterized by blister formation, skin fragility, and mucocutaneous blisters and erosions following minimal trauma. Oral manifestations and dental involvement of EB vary in frequency and severity depending on the subtype. Dental management of children with EB is complex due to the high risk of iatrogenic soft-tissue injury and requires strict adherence to evidence-based preventive and minimally invasive protocols. Published clinical p [...]

by Elham Alimoradi  , Elaheh Emadi  , Parham Nejati  , Fatemeh Molavi  , Mohamad Javad Alibakhshi  and Reza Alibakhshi

Received: 23 April 2026;  Published: 15 July 2026;  doi: 10.21926/obm.genet.2603348

SLITRK6 is essential for inner-ear neuronal survival and retinal development, and pathogenic variants in this gene cause syndromic sensorineural hearing loss (HL) with high myopia. This study aimed to identify the genetic basis of HL and myopia in a consanguineous Iranian family with two affected children and to characterize the molecular consequences of the detected variant. One sibling with bilateral congenital HL and myopia was evaluated using whole-exome sequencing (WES). Common variants (MAF >1%) were excluded [...]