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S. Ghafouri‐Fard

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Open access Jul 2026

Discovery of a prognostic two-lncRNA panel correlated with immune-associated transcripts for forecasting overall survival in pancreatic cancer.

BACKGROUND Pancreatic cancer is among the most lethal cancers because of late diagnosis and inadequate therapeutic preferences. The tumor microenvironment and immune response have critical roles in disease progression and patient outcomes. LncRNAs are regulators of immune function and tumorigenesis, yet their prognostic value in pancreatic cancer remains partly clarified. METHODS RNA-sequencing data and corresponding clinical features for 178 pancreatic cancer patients were obtained from TCGA. Immune-related mRNAs were retrieved from the MSigDB, and immune-related lncRNAs were identified based on a significant Pearson correlation with at least two immune-related mRNAs. Regression analyses were sequentially applied to construct a prognostic immune-related lncRNA set. The predictive performance of the set was assessed using time-dependent ROC curves and Kaplan-Meier survival analysis in both the TCGA training cohort and an independent external validation cohort (GSE224564). RESULTS From 4059 lncRNAs, 1172 immune-related lncRNAs demonstrated strong associations with immune-related mRNAs. Sequential screening identified 34 survival-associated lncRNAs by univariate Cox regression (P < 0.01), 12 lncRNAs following LASSO regression, and ultimately two lncRNAs-CASC8 (HR = 1.7, P < 0.05) and LINC01004 (HR = 0.54, P < 0.05)-by multivariate Cox regression. A risk score signature was developed using these two lncRNAs. Time-dependent ROC analysis demonstrated moderate-to-good predictive precision in the training cohort, with area under the curve (AUC) values of 0.702, 0.774, and 0.84 for 1-, 3-, and 5-year overall survival, respectively. Patients in the high-risk group exhibited significantly worse survival compared to the low-risk group (P < 0.05). External validation in the GSE224564 cohort confirmed consistent risk stratification (P = 0.019), though with lower discriminative accuracy (AUC ∼ 0.60). Multivariate analysis demonstrated that the risk score acted as an independent prognostic factor in both cohorts. CONCLUSION The CASC8 and LINC01004 immune-related lncRNA profile serves as a potential prognostic marker for pancreatic cancer. This set demonstrates increasing predictive trends over time in the training dataset. The presented findings offer novel insights into the correlation of immune-related lncRNAs with pancreatic cancer progression and provide a foundation for future risk stratification modeling.

Hajar Eftekhari, Arash Safarzadeh, Emad Babakhanzadeh et al. · 0 citations
Open access Aug 2026

Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and Counseling.

BACKGROUND Retinal dystrophies (RD) are a heterogeneous group of genetic disorders leading to progressive vision loss. The notable gap in the genetics of RD is primarily due to unidentified disease genes and variants. Advanced genotyping technologies present significant opportunities for the identification of causative variants, thereby contributing to improved disease management. METHODS This study investigates the genetic basis of RD in 12 families from Iran. Comprehensive ophthalmic evaluations were conducted for each participant, including visual acuity testing, slit-lamp examinations, and optical coherence tomography (OCT). Whole exome sequencing (WES) and computer-assisted data analysis were utilized for genotyping and identifying DNA variants. Exome enrichment was achieved using the Illumina TruSeq kit, and sequencing was performed on the Illumina NextSeq500 platform. Bioinformatic analysis involved variant calling and annotation, with stringent filtering based on established criteria. Variants were prioritized according to the American College of Medical Genetics and Genomics (ACMG) guidelines, and pathogenic variants were validated through Sanger sequencing, achieving a 100% concordance rate. RESULTS We identified variants in all the families, including significant pathogenic variants in genes such as EYS. Several novel variants were also discovered, contributing to the expanding genetic landscape of RD. Additionally, variants in syndromic RD genes were identified, emphasizing the need for comprehensive genetic screening. CONCLUSIONS Our findings demonstrate the utility of WES in the molecular diagnosis of retinal dystrophies, highlighting the importance of functional validation of newly identified variants. This study contributes valuable insights into the genetic basis of RD. Our findings have the potential to enhance genetic counseling and improve the classification of subtypes in RD.

elham alimoradi, Arash Salmaninejad, Parham Nejati et al. · 0 citations
Review Open access Aug 2026

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome

This study expands the mutational landscape of JS in the Iranian population and underscores the utility of WES as a first-tier diagnostic tool for JS and related ciliopathies.

Sheyda Khalilian, Mohadeseh Fathi, Zahra Farbood et al. · 0 citations