Mohammadreza Dehghani
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[ 1 ] - A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
[ 2 ] - MiR-181b Expression Levels as Molecular Biomarker for Type 2 Diabetes
Background and purpose: Type 2 diabetes mellitus (T2DM) as a progressive metabolic disorder is rising very fast around the world. Diagnosis of T2DM at early stages (prediabetic) is important in reducing the mortality associated with this disease. Several studies have shown that micro-RNAs play a major role in the pathogenesis of the T2DM. Because of the high stability of these regulatory RNA i...
[ 3 ] - The Relationship between Mutation in HOXB1 Gene and Acute Myeloid Leukemia
Background: HOX genes are an exceedingly preserved family of homeodomain-involving transcription factors. They are related to a number of malignancies, comprising acute myeloid leukemia (AML). This study aimed to evaluate the effect of HOXB1 7bp deletion mutation on HOXB1gene expression in 36 individuals. Materials and Methods: The present cross-sectional study was done on a large Iranian fami...
[ 4 ] - COVID-19 Seroepidemiology Study of Yazd Province, First Peak, Spring 2020: A Population-Based Cross-Sectional Study
Introduction: SARS-COV 19 is a new coronavirus that was reported first time in 30 December 2019 in Wuhan, China. The first case of coronary heart disease in Iran was reported with a definitive test on February 18 in Qom province and the first case in Yazd province on 24 February. The World Health Organization (WHO) declared a Covid infection on March 11 a pandemic. The aim of this study was to ...
[ 5 ] - A Missense Mutation in the HMNT Gene Responsible for Autosomal Recessive Intellectual Disability in an Iranian Family with Consanguineous Marriage
Background and Aims: One of the neurotransmitters in the brain is Histamine which acts as several biological mechanism regulators like inflammation, gastric acid secretion, and neuromodulation. Inactivation of Histamine occurs by histamine N-methyltransferase (HNMT) enzyme. The HNMT transfers a methyl group from S-adenosyl-L-methionine to Histamine and is the main process for the termination of...