A5003607219- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Cardiovascular Effects of Exercise
- RNA regulation and disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Lipoproteins and Cardiovascular Health
- Genomic variations and chromosomal abnormalities
- Diabetes and associated disorders
- Congenital heart defects research
- Urological Disorders and Treatments
- Mitochondrial Function and Pathology
- Cardiac electrophysiology and arrhythmias
- Hormonal and reproductive studies
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- Vestibular and auditory disorders
- Growth Hormone and Insulin-like Growth Factors
- CRISPR and Genetic Engineering
- Hepatitis B Virus Studies
- Lysosomal Storage Disorders Research
- Myasthenia Gravis and Thymoma
Iran University of Medical Sciences
2016-2024
Tehran University of Medical Sciences
2011-2024
Tarbiat Modares University
2008-2024
Development Research Center
2024
Shaheed Rajaei Cardiovascular Medical and Research Center
2016-2022
Tabriz University of Medical Sciences
2021
Royan Institute
2021
Hemophilia Center of Iran
2021
Qazvin University of Medical Sciences
2011-2016
Children's Medical Center
2011-2012
Vitamin D is important for calcium absorption and skeletal growth. insufficiency (VDI) a prevalent health problem in children. A study was performed to determine the prevalence of VDI healthy children living Tehran, Iran. In cross-sectional study, 963 students (424 boys 539 girls) aged 7–18 years were selected by random sampling. Serum 25-hydroxyvitamin (25-OHD), calcium, alkaline phosphatase phosphorus measured. defined as serum 25-OHD <20 ng/ml. Prevalence 53.6% girls 11.3% boys. female...
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...
Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) many populations. Here, we investigated mutations 114 patients from 77 affected ARNSHL families including 54 consanguineous marriages 23 nonrelative Iranian population. Clinical studies genetic counseling were performed for all families. directly sequenced. Three known large deletions [del(GJB6-D13S1830), del(GJB6-D13S1854), a 920 kb deletion] also checked by quantification common...
Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is most frequent of congenital adrenal hyperplasia. Forty four affected families were investigated to identify mutation spectrum gene. Methods: Families subjected clinical, biochemical, and molecular analyses. Allele-specific polymerase chain reaction amplification was used for eight common mutations followed by dosage analysis exclude deletions. Results: The detected deletions chimera (31.8%). Other...
Specific alleles at the HLA-DRB1, -DQA1, and -DQB1 loci seem to be associated with variable risks of developing type 1 diabetes (T1D). This study assessed distribution HLA-DR -DQ among Iranian T1D patients healthy controls. In this study, were determined in 100 children unrelated The following found have a strong positive association T1D: DRB1*0301, DRB1*0401, DRB1*0402, DQA1*0301, DQA1*0501, DQB1*0201, DQB1*0302. Meanwhile, protective associations for DRB1*1001, DRB1*1101, DRB1*15, DRB1*16,...
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...
Abstract TRDN mutations cause catecholaminergic polymorphic ventricular tachycardia (CPVT) but may present with abnormal electrocardiogram (ECG) findings provoking a diagnosis of long QT syndrome (LQTS). We report two novel cases sudden cardiac death in children due to , providing further insight into this rare and aggressive inherited arrhythmia syndrome. Whole exome sequencing (WES) was performed unrelated who experienced arrest during exercise were negative for targeted testing LQTS. WES...
β-Thalassemia (β-thal) caused by mutations on the HBB gene is most common single-gene disorder in world. In this study, mutation was investigated Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted study. DNA samples extracted from peripheral blood. The sequenced all recruited patients. Eleven and eight polymorphisms found studied IVS-II-1 (G>A) (HBB: c.315+1 G>A) mutation, accounting for 25.61% of mutant alleles. Other included codon 8 (–AA)...
APOC2-related hypertriglyceridemia occurs due to biallelic variants of this gene. Here, genotype-phenotype architecture all pathogenic APOC2 is investigated among heterozygous and homozygous individuals. Clinical heterogeneity various types the also described, pancreatitis in more than half homozygotes carrying chain-termination highlighted as well. For study, patients were selected who had a plasma triglyceride level above 250 mg/dL. The coding intronic regions gene amplified using Sanger...
Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to group of primary adrenal insufficiency (PAI) and mainly caused by mutations in the MC2R MRAP genes. A comprehensive search was conducted find reported variants In silico pathogenic analysis performed for variants. PCR amplification sequencing were three patients. Structural analysis, modeling, interactome applied characterize novel their proteins. About 80% -related cases showed clinical...