Javad Jamshidi

Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.

[ 1 ] - ATP2B1 rs2681472 and STK39 rs35929607 polymorphisms and risk of Hypertension in Iranian Population

    Background: ATP2B1 and STK39 have been introduced as essential hypertension candidate genes. The association of these genes’ variations have not been studied in Iranian population yet. Here we aimed to investigate the association of ATP2B1 rs2681472 and STK39 rs35929607 polymorphisms with the risk of hypertension in an Iranian population.    Methods: We inclu...

[ 2 ] - Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)

In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...

[ 4 ] - A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease