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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

S. Dastgheib

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Review Open access Sep 2026

A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome

Background Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 genes impli...

Sheyda Khalilian, Mohadeseh Fathi, Mona Entezam et al. · 0 citations
Open access Aug 2026

The Expression of Long Noncoding RNA FOXD2-AS1 and OIP5-AS1 in Breast Cancer and Its Relationship with Clinicopathological Characteristics

Background: Breast cancer is one of the most common malignancies in women. A major challenge in its diagnosis and treatment is the lack of adequate molecular targets. Various risk factors can influence the likelihood of developing breast cancer. Reduced expression of long noncoding RNAs (lncRNAs), such as OIP5-AS1 and...

Mahboobeh Khodakarim, S. Dastgheib, Yaser Mansoori et al. · 0 citations
Case report Open access Aug 2026

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

A novel likely pathogenic variant in the LOXHD1 gene, c.3713dupA (p.Asp1238Glufs*10), was identified and enhances the comprehension of the genetic underpinnings of hearing loss and may aid in molecular diagnostics and genetic counseling for impacted families.

Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi 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

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