A5056455794- Cardiomyopathy and Myosin Studies
- Cardiac electrophysiology and arrhythmias
- RNA regulation and disease
- Cardiovascular Effects of Exercise
- Cytomegalovirus and herpesvirus research
- Metabolism and Genetic Disorders
- Congenital heart defects research
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Sports injuries and prevention
- Aortic Disease and Treatment Approaches
- Orthopedic Surgery and Rehabilitation
- Peripheral Nerve Disorders
- Galectins and Cancer Biology
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Neurological diseases and metabolism
- Muscle Physiology and Disorders
- Cardiac Arrest and Resuscitation
- Growth Hormone and Insulin-like Growth Factors
- Ion channel regulation and function
- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Cardiac Valve Diseases and Treatments
- Sexual Differentiation and Disorders
- Tendon Structure and Treatment
Shaheed Rajaei Cardiovascular Medical and Research Center
2017-2025
Iran University of Medical Sciences
2017-2024
Tehran University of Medical Sciences
2020
Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, with variable incidence rates. A significant portion of cases stems from novel variants, while others inherit it affected parents. This study focuses on identifying the cause MFS in specific family, using whole-exome sequencing (WES). 15-year-old male confirmed was examined, showing symptoms palpitations and severe mitral valve regurgitation. WES performed, followed by confirmation Sanger sequencing. Variants were...
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for based on clinical neuroradiological findings 2016 2019. Patients with a suggestive specific leukodystrophy, e. g. metachromatic Canavan disease, Tay-Sachs disease mutations single genes (108; 71%) while patients less evaluated by NGS. 108 152(71%) had MRI patterns known leukodystrophy. In total, 114(75%) affected individuals...
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease 31 years. In this article, Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG performed. After DNA extraction, genetic testing was done, PCR-sequencing applied find causal mutations. Segregation analysis also performed...
Background MYBPC 3 mutations have been described in dilated cardiomyopathy ( DCM ) and hypertrophic HCM ). A mutation, c.3373G>A, has reported to cause autosomal recessive form of . Here, we report that this mutation can dominant Methods Next‐generation sequencing using targeted panel a total 23 candidate genes following Sanger was applied detect causal Computational analyses were also performed available software tools. In silico structural functional including protein modeling...
Arrhythmogenic cardiomyopathy (ACM) characterized by progressive myocardial loss and replacement with fibro-fatty tissue is a major cause of sudden cardiac death (SCD). In particular, ACM predominantly left ventricular involvement, known as arrhythmogenic (ALVC), has poor prognosis. The proband underwent whole-exome sequencing (WES) to determine the etiology ALVC. Family members were then analyzed using PCR Sanger sequencing. Clinical evaluations including 12-lead ECG, transthoracic...
Abstract Aims Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic cardiac disorder characterized by unexplained left ventricular hypertrophy. It can cause a wide spectrum of clinical manifestations, ranging from asymptomatic to heart failure and sudden death (SCD). Approximately half HCM cases are caused variants in sarcomeric proteins, including α‐tropomyosin (TPM1). In this study, we aimed characterize the molecular phenotype Iranian pedigree with SCD. Methods Results The...
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH). In this study, we investigated role CYP21A2 gene variants patients with Iranian population. Forty (13 males and 27 females), clinically diagnosed PP, were analyzed for molecular testing variants. Direct sequencing was performed samples. Also, dosage analysis cases. Fourteen (35%) had a mutation p.Gln318X p.Val281Leu, out...
Abstract Background: This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. Methods: 152 children, aged from 1day to 15 years, were genetically tested for based on clinical neuroradiological findings 2016 2019. Patients with a suggestive specific leukodystrophy, e. g. metachromatic Canavan disease, Tay-Sachs disease mutations single genes (108; 71%) while patients less evaluated by NGS. Results: 108 152(71%) had MRI patterns known leukodystrophy. In...