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    Article

    Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy

    Duchenne Muscular Dystrophy (DMD) is a progressive muscle wasting disorder caused by loss-of-function mutations in the dystrophin gene. Although the search for a definitive cure has failed to date, extensive e...

    Farzaneh Alizadeh, Yousef Jafari Abraghan… in Molecular and Cellular Biochemistry (2024)

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    Article

    Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A

    Bardet–Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, l...

    Masoumeh Heidari Feizabadi, Masoome Alerasool, Atieh Eslahi… in Biochemical Genetics (2024)