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Genoty** R1336X and Eliminating the Pseudogene Amplification in Type 3 von Willebrand Disease Patients
Among inherited bleeding disorders, von Willebrand disease (VWD) is the most common disease worldwide. Type 3, the most severe form, is more...
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Prevalence of TP53 gene Pro72Arg (rs1042522) single nucleotide polymorphism among Egyptian breast cancer patients
BackgroundThe P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The...
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Association between type 2 diabetes mellitus and TCF7L2 gene variant in the Pakistani cohort
IntroductionType 2 diabetes mellitus (T2DM) is one of the leading preventable chronic diseases with high rates of morbidity and mortality. It is...
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Impact of gene polymorphism of glutathione S-transferase and ghrelin as a risk factor in Egyptian women with gestational diabetes mellitus
BackgroundGestational diabetes mellitus is the most common metabolic dysfunction that arises during pregnancy. GDM can lead to serious health...
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Genetic association analysis of rs662799 ( − 1131A > G) polymorphism of APOA5 gene with morphometric and physio-metric traits using multiplex PCR
BackgroundThe apolipoprotein A5 ( APOA5 ) gene, significantly expressed in liver, has been involved in regulation of triglyceride metabolism, plasma...
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Association of the ANGPTL3 gene polymorphisms and haplotypes with cardiovascular diseases in Birjand longitudinal aging study (BLAS)
SubjectCardiovascular disease is now well established as an interaction between genetic and environmental components. Newly identified single...
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Association between risk of brucellosis and genetic variations in MicroRNA-146a
BackgroundSingle nucleotide polymorphisms (SNPs) are the most common types of DNA changes in the human genome that leading to phenotypic differences...
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The importance of SOCS1 − 1478 CA/del polymorphism and expression in breast cancer: a case–control study in the north of Iran
PurposeThis project aimed to evaluate the relationship between the suppressor of cytokine signaling-1 ( SOCS1 ) − 1478 CA > del genetic variation and...
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Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case–control study
Epilepsy is one of the most common neurological disorders with the incidence rate higher in develo** states. It is a multifactorial ailment in...
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Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
BackgroundThe present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two...
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Association of P2X7 receptor genetic polymorphisms and expression with rheumatoid arthritis susceptibility in a sample of the Iranian population: a case-control study
ObjectiveRheumatoid arthritis (RA) is a complex inflammatory autoimmune disease with joint eruption, systemic manifestation, and numerous...
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EGFR Gene Mutation and Methodological Evaluation in 399 Patients with Non-small Cell Lung Cancer
The purpose of the present study was to study the characteristics of epidemic growth factor receptor (EGFR) gene distribution in patients with...
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Micronutrients intake and genetic variants associated with premature ovarian insufficiency; MASHAD cohort study
Background and aimpremature ovarian insufficiency (POI) is defined as the menopause before 40 years of age, and its prevalence is reported to be...
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Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population
BackgroundChronic kidney disease (CKD) is a significant comorbidity among hypertensive patients. Polymorphisms in the non-muscle myosin heavy chain 9...
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Kidd Blood Group Genoty** for Thalassemia Patient in Iran
We aimed to determine the JK genotype in thalassemia patients from Iran using different molecular methods to compare with phenoty** results. We...
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Association of factor V Leiden R506Q, FXIIIVal34Leu, and MTHFR C677T polymorphisms with acute myocardial infarction
BackgroundAcute myocardial infarction (AMI) is a leading cause of death and morbidity around the world. Although the association between...
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Association of ADIPOQ rs266729 and rs1501299 gene polymorphisms and circulating adiponectin level with the risk of type 2 diabetes in a population of Iran: a case-control study
PurposeMutation in various regions of the adiponectin (ADIPOQ) gene is described to be associated with type 2 diabetes (T2D). Our aim was to...
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Angiotensin I converting enzyme gene polymorphisms and risk of psychiatric disorders
Angiotensin-converting enzyme (ACE) as an important enzyme in the renin-angiotensin system facilitates biogenesis of the functionally active product...
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Role of eNOS and TGFβ1 gene polymorphisms in the development of diabetic nephropathy in type 2 diabetic patients in South Indian population
BackgroundDiabetic nephropathy is known to be a leading complication of diabetes mellitus, characterized by diverse aspects such as high urinary...
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Assessment the effect of vitamin D supplementation on plasma vitamin D levels, inflammation, and oxidative stress biomarkers based on vitamin D receptor genetic variation in breast cancer survivors: a protocol for clinical trial
BackgroundBoth human genes and environmental exposures, due to complex interplay, play important role in the cancer etiology. Vitamin D is associated...
