background: as a dna repair protein, flap endonuclease 1 is a key enzyme in maintaining genomic instability and preventing carcinogenesis. two single nucleotide polymorphisms (snps), -69g>a and 4150g>t are associated with dna damage. this meta-analysis is to evaluate the genetic effects of fen1 gene snps (-69g/a and 4150g/t) and the susceptibility to diseases, including glioma risk, breast canc...

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

conclusions by applying wes, both novel and known scz pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified. background schizophrenia (scz) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity. much of the genetic architecture of the disorder has not yet been clearly elucidate...

Introduction: Hearing impairment is a complex medical disorder whichhas genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with he...

myocardial infarction (mi) and its major determinant, coronary artery disease (cad), are complex diseases arising from the interaction between several genetic and environmental factors. until recently, the genetic basis of these diseases was poorly understood. genome-wide genetic association studies have afforded a comprehensive insight into the association between genetic variants and diseases...

Acute lymphoblastic leukemia (ALL) accounts for nearly 30% of pediatric cancers. The maintenance treatment for ALL comprises daily oral 6-mercaptopurine (6-MP) and weekly methotrexate (MTX). 6-MP is a purine analog that can significantly improve the long-term survival of ALL patients. Despite more than 90% of 5-year survival of childhood ALL in developed countries, treatment interruption due to...

Background To investigate the role of the anti-Müllerian hormone (AMH) signalling pathway in the pathophysiology of idiopathic primary ovarian insufficiency (POI) and age at natural menopause (ANM) using a genetic approach MaterialsAndMethods DNA sequencing was used to detect the genotype distribution and allele frequency of the genes AMH and AMH receptor II (AMHR2) in 120 cases of idiopathic P...

obesity is currently considered as a serious global health problem which is influenced by environmental and genetic factors. association of genetic variants with obesity is widely scrutinized in recent years. the aim of this study was to evaluate present data on genetics of obesity in iranian population in a systematic review study. to obtain all related studies, google scholar, pubmed, and per...

introduction: long-term levodopa treatment of parkinson’s disease (pd) is frequently complicated by spontaneously occurring involuntary muscle movements called dyskinesia. the exact pathological mechanism of this complication has not yet been elucidated. we have previously demonstrated that in pd patients the vulnerability to develop peripheral but not orofacial dyskinesia is associated with th...