Sima Mansoori Derakhshan
Hematology & Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran| Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran
[ 1 ] - Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of b-Thalassemic Patients
Background: b-Thalassemia is a common autosomal recessive disorder in human caused by a defect in b-globin chain synthesis. The most common mutations causing b-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of norma...
[ 2 ] - The worldwide frequency of MYO15A gene mutations in patients with autosomal recessive non-syndromic hearing loss: A meta‐analysis
MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to Septemb...