Mestiri, S Zaaber, I Nasr, I Marmouch, H
Published in
Balkan Journal of Medical Genetics
Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (FcγRIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of VDR rs7975232 and FCGR2A rs 1801274 ...
Türkyilmaz, A Ata, P Akbaş, F Yağci, İ
Published in
Balkan Journal of Medical Genetics
Spondyloarthropathies (SpAs), are a group of chronic inflammatory diseases with a number of genetic, physiopathological, clinical and radiological features. Ankylosing spondylitis (AS) is the most common type of spondylo-arthropathies, and >90.0% of patients with ankylosing spondylitis are human leukocyte antigen-B27 (HLA-B2 7)-positive. In recent ...
Vidović, V Maksimović, N Novaković, I Damnjanović, T Jekić, B Vidović, S Majkić Singh, N Stamenković-Radak, M Nikolić, D Marisavljević, D
...
Published in
Balkan Journal of Medical Genetics
Brain-derived neurotrophic factor (BDNF) has an important role in energy balance. It suppresses food intake, reduces hepatic glucose production and converts white fat into brown fat in adipose tissue, leading to energy dissipation, lowered blood glucose and a lean phenotype. Studies have shown that the single nucleotide polymorphism (SNP) Val66Met ...
Yin, S Li, W Yang, G Cheng, Y Yi, Q Fan, S Ma, Q Zeng, F
Published in
Balkan Journal of Medical Genetics
Induced pluripotent stem cells (iPSCs), generated from somatic cells, not only possess similar characteristics with embryonic stem cells (ESCs), but also present more advantages than ESCs in medical applications. The classical induction method that utilizes the integration of exogenous genes into chromosomes may raise the potential risk of the safe...
Kalkan, R Altarda, M Tosun, O
Published in
Balkan Journal of Medical Genetics
During menopausal transition, decreased level of estrogen brings a number of physiological problems and hormonal changes. In this study, promoter methylation of RANKL and FSHR genes were identified in 30 premenopausal and 35 postmenopausal women using methylation-specific high resolution melting (MS-HRM) analysis. The statistical analyses and their...
Stangler Herodež, Š Marčun Varda, N N, Kokalj Vokač Krgović, D
Published in
Balkan Journal of Medical Genetics
Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D gene. Although KS is a well-characterized syndrome...
Öztan, G Aktan, M Palanduz, S İşsever, H Öztürk, S Nikerel, E Uçur, A Bağatir, G Bayrak, A Çefle, K
...
Published in
Balkan Journal of Medical Genetics
Chronic lymphocytic leukemia (CLL) is a neoplasm characterized by excessive accumulation of B lymphocytes in the peripheral blood, bone marrow and lymph nodes. We assessed the expressions of 22 genes in the p53 pathway in 30 CLL patients and 15 healthy subjects by a RT2 Profiler PCR (polymerase chain reaction) Array technique and their relation to ...
Karaman, A Karaman, B Çetinkaya, A Karaman, S Demirci, O
Published in
Balkan Journal of Medical Genetics
A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At bi...
Nennicioglu, Y Kaya, H Eraybar, S Atmaca, S Gorukmez, O Armagan, E
Published in
Balkan Journal of Medical Genetics
Catechol-O-methyl transferase (COMT) enzyme has a role in the inactivation of catecholamine neurotransmitters. Functional polymorphism in the COMT gene has been reported to play an important role in schizophrenia, bipolar affective disorder, aggressive and antisocial behavior, suicide attempts and the pathogenesis of Parkinson’s disease. In this st...
Türkyılmaz, A Yaralı, O
Published in
Balkan Journal of Medical Genetics
Trisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The cli...
