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Öğe Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family(Lippincott Williams & Wilkins, 2019) Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, AysehanFBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.Öğe Carbamazepine-induced sperm disorders can be associated with the altered expressions of testicular KCNJ11/miR-let-7a and spermatozoal CFTR/miR-27a(Wiley, 2021) Tektemur, Ahmet; Etem Onalan, Ebru; Kaya Tektemur, Nalan; Dayan Cinkara, Serap; Kilincli cetin, Ayten; Tekedereli, Ibrahim; Kuloglu, TuncayMale infertility is a global health problem, and the underlying molecular mechanisms are not clearly known. Ion channels and microRNAs (miRNAs), known to function in many vital functions in cells, have been shown to play a significant role in male infertility through changes in their expressions. The study aimed to evaluate the alterations of testicular and/or spermatozoal potassium voltage-gated channel subfamily J member 11 (KCNJ11), Cystic fibrosis transmembrane conductance regulator (CFTR), miR-let-7a and miR-27a expressions in carbamazepine-related male infertility. Here, we showed that carbamazepine reduced sperm motility, increased abnormal sperm morphology, and impaired hormonal balance as well as increased relative testis weight and decreased relative seminal vesicle weight. On the other hand, downregulated KCNJ11 and upregulated miR-let-7a expressions were determined in testis (p < .05). Also, downregulated KCNJ11 and upregulated CFTR and miR-27a expressions were found in spermatozoa (p < .05). Interestingly, altered testicular KCNJ11 and miR-let-7a expressions were correlated with decreased sperm motility and elevated sperm tail defect. Besides, spermatozoal CFTR and miR-27a expressions positively correlated with sperm tail defects. The results indicated a significant relationship between ion channel and/or miRNA expression alterations and impaired sperm parameters due to carbamazepine usage.Öğe A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment(Galenos Yayincilik, 2019) Camtosun, Emine; Akinci, Aysehan; Demiral, Emine; Tekedereli, Ibrahim; Sigirci, AhmetCleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature and other changes in skeletal patterning and growth. The gene responsible for pathogenesis has been mapped to the short arm of chromosome 6p21, core binding factor alpha-1 (CBFA1) or runt related transcription factor-2 (RUNX2). Here we describe a CCD patient with a novel mutation in the RUNX2 gene. A five-and-a-half year old girl presented with severe short stature, dysmorphic facial appearance (hypertelorism, prominent forehead, high palate, midfacial hypoplasia), macrocephaly, large anterior fontanelle, increased anteroposterior chest diameter. Her shoulders were close to each other and her bilateral clavicles appeared short on physical examination. Bilateral hypoplastic clavicles, coxa valga, hypoplasia of iliac bones, wide symphysis pubis and phalangeal dysplastic features were detected on her skeletal X-ray examination. She was diagnosed as having CCD. Molecular analysis detected a novel heterozygous mutation 'NM_001024630.3p.T155P(c.463A > C)' in the RUNX2 gene. At age seven years and two months old, because of her severe short stature, growth hormone (GH) treatment was started and she responded well to GH therapy with no adverse effects. In conclusion, hypoplasia or aplasia of the clavicles, failure of cranial suture closure, dental anomalies and short stature should bring CCD to mind. We present a novel mutation in the RUNX2 gene for CCD. We obtained growth velocity gain with GH treatment in our patient.Öğe Central irisin administration suppresses thyroid hormone production but increases energy consumption in rats(Elsevier Ireland Ltd, 2018) Tekin, Suat; Erden, Yavuz; Ozyalin, Fatma; Onalan, Ebru Etem; Cigremis, Yilmaz; Colak, Cemil; Tekedereli, IbrahimIrisin, which is secreted from the skeletal muscle in response to physical exercise and defined as a thermogenic peptide, may play an important role in energy metabolism. Thyroid hormones, which are one of the other influential factors on the metabolic status, increase heat production and are the main regulators of energy metabolism. This study was conducted to determine the possible effects of irisin administration on thyroid hormones. Forty adult male Wistar albino rats were used in the study. The rats were equally divided into 4 groups (n = 10). The brain infusion kit was implanted in the groups, and irisin (or solvent as control) was centrally administered to the rats via osmotic mini pumps for 7 days. During the experiment, food consumption, body weights, and body temperatures of the animals were recorded. Food intake was significantly increased in the groups treated with irisin (p < 0.05), but their body weights were not changed. Hypothalamic TRH gene expression, serum TSH, fT3, and fT4 levels were significantly lower in the groups treated with irisin as compared to the naive and control groups (p < 0.05). In addition, irisin increased UCP1 mRNA expression in white and brown adipose tissue and UCP3 mRNA expression in muscle tissue in rats and also raised their body temperature (p < 0.05). Consequently, although central irisin administration has inhibitory effects on the hypothalamic-pituitary thyroid axis, it seems to be an important agent in the regulation of food intake and energy metabolism.Öğe Central irisin administration suppresses thyroid hormone production but increases energyconsumption in rats(Elsevıer ıreland ltd, elsevıer house, brookvale plaza, east park shannon, co, clare, 00000, ıreland, 2018) Tekin, Suat; Erden, Yavuz; Ozyalin, Fatma; Cigremis, Yilmaz; Colak, Cemil; Tekedereli, Ibrahim; Sandal, SuleymanIrisin, which is secreted from the skeletal muscle in response to physical exercise and defined as a thermogenic peptide, may play an important role in energy metabolism. Thyroid hormones, which are one of the other influential factors on the metabolic status, increase heat production and are the main regulators of energy metabolism. This study was conducted to determine the possible effects of irisin administration on thyroid hormones. Forty adult male Wistar albino rats were used in the study. The rats were equally divided into 4 groups (n = 10). The brain infusion kit was implanted in the groups, and irisin (or solvent as control) was centrally administered to the rats via osmotic mini pumps for 7 days. During the experiment, food consumption, body weights, and body temperatures of the animals were recorded. Food intake was significantly increased in the groups treated with irisin (p < 0.05), but their body weights were not changed. Hypothalamic TRH gene expression, serum TSH, fT3, and fT4 levels were significantly lower in the groups treated with irisin as compared to the naive and control groups (p < 0.05). In addition, irisin increased UCP1 mRNA expression in white and brown adipose tissue and UCP3 mRNA expression in muscle tissue in rats and also raised their body temperature (p < 0.05). Consequently, although central irisin administration has inhibitory effects on the hypothalamic-pituitary thyroid axis, it seems to be an important agent in the regulation of food intake and energy metabolism.Öğe Cytotoxic activity and apoptosis induction by a series Ag(I)-NHC complexes on human breast cancer cells and non-tumorigenic epithelial cell line(Elsevier, 2021) Kutlu, Turkan; Yildirim, Isil; Karabiyik, Hande; Kilincli, Ayten; Tekedereli, Ibrahim; Gok, Yetkin; Dikmen, MirisThe main problems encountered in treatment with anticancer drugs, undesired side effects, and toxicity. One of the most important parameters in cell transport is the lipophilic and solubility property of the drug. Enough with the potential effects, side effects with minimal demand for new anti-cancer compounds, mechanisms of action of the compound can meet because of increased efforts to be clarified. In this case, scientists were encouraged to do new research. In particular, the organometallic compounds are one of the topics focused lately. Ag(I)-NHC complexes are one of the most important classes of organometallic compounds. Although the anticancer activity of Ag(I)-NHC complexes have been known recently times, the anticancer effects of 2-morpholino ethyl substituted benzimidazolium derivative, lipophilic, and solubility properties. Ag(I)-NHC complexes have not unknown yet. Therefore, we aimed to investigate of cytotoxic effect and apoptosis mechanism on breast cancer cell lines (MCF7), breast adenocarcinoma cell lines (MDA-MB-231), and non-tumorigenic epithelium cell lines (MCF 10A) of new Ag(I)-NHC complexes that derivative from morpholine-linked benzimidazole, were synthesized and antimicrobial activity was determined in our previous study. The cytotoxicity was determined by the MTS method, and the apoptosis mechanisms were determined the cell cycle, Annexin V, and caspase-3 analysis. A new benzimidazolium salt bearing morpholino ethyl substituent (2) was synthesized. This benzimidazolium salt was characterized by NMR and FT-IR spectroscopic method and elemental analysis technique. Also, the structure of the new benzimidazolium salt was confirmed by single-crystal X-ray diffraction. Ag(I)-NHC complexes inhibited the growth of MCF7 and MDA-MB-231 cells depending on the dosage and time. The complexes 3a and 3b exhibited a significant difference p < 0.05; p < 0.001; and p < 0.001 level depend on depending on the increase in concentration on cancer cells. All compound induced by apoptosis was associated with stopping the cell cycle in phase G1 and the caspase-3 activity exhibited. The complex 3c was the lowest number of caspase-activating cells (2.1%) compared with both the control and other complexes in MDA-MB-231 cells. But the complex 3a was the highest number of caspase-activating cells (% 9.6). These findings have shown that these new Ag(I)-NHC complexes can be important new anticancer agents for breast cancer treatments. (C) 2020 Elsevier B.V. All rights reserved.Öğe Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience(Erciyes Univ Sch Medicine, 2023) Deveci, Mehmet Fatih; Ates, Kubra; Alagoz, Meral; Tekedereli, Ibrahim; Gokce, Ismail Kursad; Aslan, Mehmet; Ozdemir, RamazanObjective: Ichthyosis is a keratinization disorder that is characterized by a defective skin barrier and inability to retain water in the skin. Ichthyosis is extremely rare and mostly hereditary, and its manifestations typically involve dryness, scaling, and hyperkeratosis. Moreover, different clinical findings may be observed depending on the concomitant anomalies. Patients with ichthyosis should be protected from infection and hypernatremic dehydration during the neonatal period. After diagnosis, patients with ichthyosis should be screened for concomitant genetic disorders and their families should be referred to genetic counseling. Materials and Methods: In this study, ichthyosis cases observed in our neonatal intensive care unit were retrospectively evaluated. We analyzed the genetic analyses and demographic and clinical data of patients hospitalized in our unit over the past 9 years. Results: Three of the 24 patients evaluated expired during the neonatal period. Genetic analysis was performed on 10 patients, with 8 exhibiting a pathogenic variant. Four of these cases were diagnosed with syndromic ichthyosis, whereas four were nonsyndromic. Conclusion: Patients with ichthyosis need to be diagnosed early and subsequently screened for accompanying anomalies. In managing this disorder, genetic analysis and counseling are as important as proper skin care, hydration, and infection prevention and should not be overlooked.Öğe The Insertion allele of angiotensin converting enzyme increases the risk for coronary artery ectasia(Drunpp-Sarajevo, 2012) Tekedereli, Ibrahim; Kara, Murat; Dagli, Necati; Gurevin, Mehmet Sait; Kobat, Mehmet AliCoronary artery ectasia(CAE) is characterized by dilation of the coronary arteries, exceeding the 1.5-fold of normal adjacent segment in coronary angiography. A common polymorphism in the angiotensin converting enzyme (ACE) gene is insertion/deletion (I/D) polymorphism. The presence of D allele has been shown to be associated with higher blood ACE concentrations. One hundred CAE patients and the 100 healthy controls were enrolled in the study. The frequencies of DD, ID and II genotypes were 42, 48 and 10% for CAE patients, 65, 33 and 2% for healthy controls, respectively (p=0.0014). The allele frequencies for D and I allele were 0.815 and 0.185 for the control group and 0.660 and 0.340 for the patient group (p=0.0004). In conclusion, our data suggest that the I allele which represents lower ACE levels leads to a decrease in vascular tone and increase in the susceptibility to CAE.Öğe Investigation of the Effects of Irisin Hormone on the Hypothalamic Control of Feeding(Wiley-Blackwell, 2015) Tekin, Suat; Erden, Yavuz; Sandal, Suleyman; Cigremis, Yilmaz; Tekedereli, Ibrahim; Colak, Cemil[Abstract Not Available]Öğe Liraglutide Treatment in a Morbidly Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success(Galenos Publ House, 2023) Camtosun, Emine; Akinci, Ehan; Kayas, Leman; Ciftci, Nurdan; Tekedereli, IbrahimVariants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in the short term. In this paper, our experience with liraglutide treatment in an adolescent patient carrying a MC4R gene variant is presented. A female patient was admitted first at the age of 12.5 years with a complaint of progressive weight gain. She had marked excess of appetite since infancy. On physical examination of the pubertal female patient with a body mass index (BMI) of 36.1 kg/m(2) (3.48 standard deviation score), there was no pathological finding except diffuse acanthosis nigricans. Laboratory examinations revealed only insulin resistance. Weight loss was not achieved with lifestyle changes, metformin and orlistat treatments. On genetic examination, a sporadic heterozygous c.206T > G(p.I69R) variant that had been reported previously, was found in MC4R gene. Treatment with the GLP-1 RA, liraglutide, was initiated and a 19.2% reduction was achieved in the body weight and BMI at the end of 32 weeks. However, the patient, whose treatment compliance was disrupted due to significant gastrointestinal complaints, returned to her former weight within a few months (13 weeks) after treatment was stopped. In this case with a known pathogenic variant in MC4R gene, decrease of appetite and weight loss were achieved with liraglutide treatment, but side-effects of this treatment led to discontinuation of therapy. In such cases, there is need for effective and tolerable treatment options.Öğe Machine Learning Model-based Detection of Potential Genetic Markers Associated with the Diagnosis of Small-cell Lung Cancer(Zamensalamati Publ Co, 2023) Sarihan, Mehmet Ediz; Kucukakcali, Zeynep; Tekedereli, IbrahimBackground: Small-cell lung cancer (SCLC), which is in the category of intractable cancers, has a low survival rate. It is essential to understand the pathophysiological pathways underlying its development to create powerful treatment alternatives for the disease. Objectives: This study aimed to classify gene expression data from SCLC and normal lung tissue and identify the key genes responsible for SCLC. Methods: This study used microarray expression data obtained from SCLC tissue and normal lung tissue (adjacent tissue) from 18 patients. An Extreme Gradient Boosting (XGBoost) model was established for the classification by five-fold cross-validation. Accuracy (AC), balanced accuracy (BAC), sensitivity (Sens), specificity (Spec), positive predictive value (PPV), negative predictive value (NPV), and F1 scores were utilized for performance assessment. Results: AC, BAC, Sens, Spec, PPV, NPV, and F1 scores from the XGBoost model were 90%, 90%, 80%, 100%, 100%, 83.3%, and 88.9%, respectively. Based on variable importance values from the XGBoost, the HIST1H1E, C12orf56, DSTNP2, ADAMDEC1, and HMGB2 genes can be considered potential biomarkers for SCLC. Conclusion: A machine learning-based prediction method discovered genes that potentially serve as biomarkers for SCLC. After clinical confirmation of the acquired genes in the following medical study, their therapeutic use can be established in clinical practice.Öğe A Novel Effective Myokine in the Control of Reproduction Behaviour; Irisin(Wiley-Blackwell, 2016) Tekin, Suat; Erden, Yavuz; Beytur, Asiye; Cigremis, Yilmaz; Sandal, Suleyman; Turkoz, Yusuf; Tekedereli, Ibrahim[Abstract Not Available]Öğe Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study(Galenos Yayincilik, 2019) Akinci, Aysehan; Turkkahraman, Doga; Tekedereli, Ibrahim; Ozer, Leyla; Evren, Bahri; Sahin, Ibrahim; Kalkan, TarkanObjective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.Öğe A rare mutation in the EPG5 gene causes Vici syndrome(Lippincott Williams & Wilkins, 2018) Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, Ibrahim[Abstract Not Available]Öğe A rare mutation in the epg5 gene causes vici syndrome(Lıppıncott wıllıams & wılkıns, two commerce sq, 2001 market st, phıladelphıa, pa 19103 usa, 2018) Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, IbrahimÖğe Single-center experience in management of progressive familial intrahepatic cholestasis(Elsevier, 2021) Varol, Fatma Ilknur; Selimoglu, Mukadder Ayse; Gungor, Sukru; Yilmaz, Sezai; Tekedereli, IbrahimBackground and study aims: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inherited disease that causes intrahepatic-hepatocellular cholestasis. PFIC constitutes approximately 10-15% of cholestatic liver diseases in children. The aim of this study is to draw attention to this group of diseases, which pose a higher risk, in societies where consanguineous marriage is more common, and to share our experiences since the studies in the literature, regarding this group of diseases are case series with small number of patients. Patients and methods: This cross-sectional study was conducted on 34 patients who were admitted with jaundice and diagnosed by genetic analysis, between January 2015 and July 2020. Results: We found 17.6% of patients with PFIC type 1, 55.9% patients had PFIC type 2, 14.7% patients had PFIC type 3, 8.8% patients had PFIC type 4 and 2.9% patients had PFIC type 5. Partial internal biliary diversion was performed in 5 (14.7%) patients, who had severe itching during follow-up, did not respond to medical treatment, and did not have significant fibrosis in liver biopsy yet. The degree of itching before PIBD was rated as +4 (cutaneous erosion, bleeding and scarring), in 5 patients and the rates were 0 (absent) in two patients, and +1 (mild itching) in 3 patients, 6 months after PIBD, these differences were statistically significant(p = 0.027). The mean weight z score was-1.43 (-3.72-+0.73), before PIBD, while it was 0.39(-1.86 -+2.45), six months after PIBD; the diference was statistically significant(p = 0.043). Liver transplantation was performed in 12 (35.3%) patients with significant fibrosis in liver biopsy and developing signs of portal hypertension. Conclusion: The PFIC disease group is a heterogeneous disease group that is difficult to diagnose and treat. It should be considered in patients with cholestasis and/or pruritus and those with a history of consanguineous marriage between parents and death of a sibling with similar clinical symptoms. (c) 2021 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.Öğe Trisomy 13 with the Absence of Gallbladder(Elsevier Taiwan, 2013) Kara, Murat; Tekedereli, Ibrahim; Durukan, Mehtap; Bozgeyik, Zulkif; Aygun, Denizmen[Abstract Not Available]
