Publications by authors named "Bahman Kamali"
NPJ Genom Med
August 2023
Article Synopsis
- Researchers found a variant in an intron of the NHEJ1 gene linked to eye development disorders like microphthalmia, which has no coding-region mutations.
- They conducted a study involving Jewish Iranian families and identified a critical region on chromosome 2q35 that contains this variant, which is connected to the Indian hedgehog (Ihh) gene, important for eye development.
- Experimental studies in mice and chickens confirmed that this intronic variant disrupts the enhancer activity of the Ihh gene, leading to the identified eye conditions and illustrating how intronic variants can influence nearby gene expression.
