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Concerns about the health effects of radiofrequency (RF) waves have been raised because of the gradual increase in usage of cell phones, and there are scientific questions and debates about the safety of those instruments in daily life. The aim of this study is to evaluate the genotoxic effects of RF waves in an experimental brain cell culture model. Brain(More)
Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T−B−NK+SCID. Amorphic mutations in RAG1(More)
Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause potentially lethal congenital myasthenic syndromes associated with episodic apnea (ChAT-CMS). Here, we analyze the functional consequences of 12 missense and one nonsense mutations of CHAT in(More)
Telomerase is a reverse transcriptase enzyme contributing to the maintenance of the telomeric structure by adding telomere repeat sequences to chromosomal ends, thus compensating for its shortening. Telomerase activity which is common in cancers and human germ line tissue, may also be increased, although to a lesser extent, in systemic autoimmune diseases.(More)
An improved understanding of the molecular mechanisms in asthma through exploring the role of microRNAs may offer promise to reveal new approaches for primary prevention and identification of new therapeutic targets in childhood asthma. The primary goal of this study is to identify the microRNAs that play a role in the pathogenesis of asthma in pediatric(More)
AIMS Sex chromosome abnormalities (SCAs) are the most common genetic disorder with a frequency of 1/400 or 1/500 live births. In this study we aimed to evaluate the initial indications, frequencies, and pregnancy termination rates of pregnancies with SCAs referred to Ege University Medical Faculty, Department of Medical Genetics. Prenatal diagnosis was(More)
PURPOSE OF INVESTIGATION To evaluate the prevalence and effects of inherited thrombophilia caused by factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations in women with recurrent pregnancy loss. METHODS A study group of 97 women with recurrent miscarriages and a control group of 71 healthy pregnant women were(More)
OBJECTIVE The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. METHODS In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among(More)
OBJECTIVE We assessed the association between interleukin-10 (IL-10) -1082G/A and -592C/A polymorphisms, and coronary heart disease (CHD). METHODS A cross-sectional, observational study included 86 patients (mean age 43.36±4.930 years) diagnosed to have CHD and 88 healthy controls (mean age 47.07±8.135 years). IL-10 -1082G/A and -592C/A polymorphisms were(More)