Publications by authors named "Sevda Yesim Ozdemir"
Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, and , which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association.
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- The study investigates the genetic factors, specifically ACE2 and TMPRSS2 gene variants, that may influence the variability in COVID-19 symptoms among infected individuals by analyzing data from 946 whole-exome sequences.* -
- Most variants found were intronic, with only two ACE2 and three TMPRSS2 variants detected, indicating a lack of certain genetic variants typically associated with increased susceptibility to COVID-19 in the Turkish population.* -
- The research helps establish a national genetic variation database and could aid future investigations into how these gene variants impact SARS-CoV-2 infection across different populations.*
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics
June 2022
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.
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- Noise-induced hearing loss (NIHL) primarily affects the outer and inner hair cells in the cochlea, leading to potential damage to spiral ganglion neurons due to glutamate excitotoxicity following acoustic trauma (AT).
- Excessive glutamate release is harmful, while GABA functions in regulating hearing post-injury, suggesting a complex interaction between these neurotransmitters in maintaining hearing sensitivity.
- A study on BALB/c mice reveals that expressions of genes linked to glutamate, GABA, and neurosteroid synthesis change significantly after noise exposure, emphasizing the disrupted balance between excitotoxicity and inhibition in the recovery process.
Background: Behçet's disease (BD), first described in 1937 as a triadic complex of symptoms (oral aphthae, genital ulcers, and hypopyon uveitis), is a chronic, relapsing, multisystemic idiopathic inflammatory disease.
Objective: The objective of this study was to investigate the usability of messenger RNA (mRNA) expression of cytokine genes for following up patients with BD and also assess polymorphisms in these genes as to how they influence mRNA expression.
Methods: This study investigated the role of the IL1A -889(C/T), IL1B -511(C/T), and IL2 -330(T/G) polymorphisms by polymerase chain reaction (PCR)-restriction fragment length polymorphisms and the expression levels of the genes by real-time PCR in BD.