Mohammad Yahya Vahidi Mehrjardi
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 ] - The new genomic editing system (CRISPR)
Over the past decades, progression in genetic element manipulation, and consequently, the treatment of diseases has been remarkable. It is worth noting that these genetic manipulations perform at different levels, including DNA and RNA. The earlier genomic editing techniques, including MN, ZFN , TALEN , performing their functions by creating double-stranded breaks (DSBs), and after breakage, th...
[ 3 ] - 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...
[ 4 ] - 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...
[ 5 ] - Study of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations
Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirt...
[ 6 ] - Investigating the Molecular miRNAs as Biomarkers of Type 2 Diabetes
Introduction: Biomarkers would significantly improve the early detection of the disease and identification of individuals at risk of emerging complications. Diabetes mellitus is a group of diverse and complex metabolic disorders. Both type 1 diabetes (T1D) and type 2 diabetes (T2D) mellitus are associated with distinct alterations in the profile of MicroRNAs (miRNAs) in the blood, which are som...
[ 7 ] - 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...
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