Detaylı Arama

Bulunan: 46 Adet 0.002 sn
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Bulunan: 46 Adet 0.002 sn
Koleksiyon [7]
Tam Metin [1]
Yayın Türü [4]
Yazar [20]
Yayın Yılı [14]
Konu Başlıkları [20]
Yayıncı [12]
Yayın Dili [2]
Dergi Adı [20]
Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease

Dursun A. | Durakbasi-Dursun H.G. | Zamani A.G. | Gulbahar Z.G. | Dursun R. | Yakicier C.

Article | 2006 | Mediators of Inflammation2006

Objectives. Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or inserti . . .on mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated. Copyright © 2006 Ahmet Dursun et al Daha fazlası Daha az

Neurocutaneous melanosis associated with Dandy-Walker malformation

Kalayci M. | Çagavi F. | Bayar U. | Gül Ş. | Dursun A. | Ermis B. | Açikgöz B.

Article | 2006 | Acta Neurochirurgica148 ( 10 ) , pp.1103 - 1106

Neurocutaneous melanosis is an uncommon congenital disorder consisting of benign or malignant melanocytic tumors of the leptomeninges with large or numerous cutaneous congenital melanocytic nevi. The Dandy-Walker malformation occurs as an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. To our knowledge, the association of these two conditions has been reported only 14 times. In this article, we present a newborn patient with neurocutaneous melanosis associated with Dandy-Walker malformation, which was diagnosed by magnetic r . . .esonance imaging. © 2006 Springer-Verlag Daha fazlası Daha az

Investigation of genetic variations of il17 for vitiligo disease

Celik S.K. | Tekin N.S. | Genc G.C. | Edgunlu T. | Turkcu U.O. | Dursun A.

Article | 2019 | Kuwait Medical Journal51 ( 3 ) , pp.283 - 289

Objective: Vitiligo is a disorder of pigmentation characterized by the presence of depigmented skin macules due to a chronic and progressive loss of melanocytes from the cutaneous epidermis. Among many different etiologic hypotheses that have been suggested so far for vitiligo, the most compelling one involves a combination of environmental and genetic factors that cause autoimmune melanocyte destruction. The purpose of this study is then to determine whether there is any relationship between vitiligo and IL17 gene Glu126Gly, His161Arg and G197A polymorphisms. Design: Controlled prospective study Setting: Department of Molecular Bio . . .logy and Genetics, Bulent Ecevit University Subjects: Genetic polymorphisms of IL17 gene were detected by using polymerase chain reaction based restriction fragment length polymorphism in 86 vitiligo patients and 90 healthy controls. Intervention: For genetic analysis, 5 ml of venous blood was drawn into tubes containing EDTA from each patient. Main outcome measures: IL17 gene Glu126Gly, His161Arg and G197A polymorphisms in vitiligo patients Results: As a result of our study, we have found a significant relation between His161Arg polymorphism of IL17F gene and vitiligo patients (p = 0.045). Conclusions: Our findings suggest that the IL17F His161Arg gene polymorphism has a protective role in susceptibility to vitiligo. This may be regarded as hypothesis-generating and should further be investigated in independent studies. © 2019, Kuwait Medical Association. All rights reserved Daha fazlası Daha az

Prediction of subclinical left ventricular dysfunction with strain rate imaging in patients with mild to moderate rheumatic mitral stenosis

Dogan S. | Aydin M. | Gursurer M. | Dursun A. | Onuk T. | Madak H.

Article | 2006 | Journal of the American Society of Echocardiography19 ( 3 ) , pp.243 - 248

Background: Left ventricular (LV) long-axis function evaluated by Doppler tissue echocardiography-derived strain rate (SR) imaging has been shown to be a useful index of LV systolic function; however, it has not been evaluated in patients with mitral stenosis (MS). We examined the LV long-axis function of patients with pure MS and normal global systolic function as assessed by LV ejection fraction. Method: In all, 30 patients (22 women; 45 ± 9 years) with mild to moderate MS (mitral valve area = 1.5 ± 0.3 cm2) and 28 healthy volunteers (20 women; 44 ± 10 years) were evaluated by both conventional and Doppler tissue echocardiography. . . . Two-dimensional Doppler tissue echocardiography was performed in the apical 4-chamber view in the septal and lateral wall on the mitral annular level. Peak systolic myocardial SR and end-systolic strain data were measured for both segments. Results: Peak systolic SR (1.2 ± 0.4% vs 1.8 ± 0.39%, P < .001) and end-systolic strain (10 ± 5 vs 25 ± 6 s-1, P < .001) were both significantly lower in patients with MS than in control subjects. Conclusions: Patients with MS had significantly impaired long-axis function evaluated by Doppler tissue echocardiography-derived SR imaging despite normal global systolic function. Copyright 2006 by the American Society of Echocardiography Daha fazlası Daha az

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Vissers L.E.M. | Fano V. | Martinelli D. | Campos-Xavier B. | Barbuti D. | Cho T.-J. | Dursun A.

Article | 2011 | American Journal of Medical Genetics, Part A155 ( 11 ) , pp.2609 - 2616

We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.R132S as apparent somatic mosaicism. Sanger sequencing confirmed the presence of the mutation in blood DNA in one patient, and in blood and saliva (but not in fibroblast) DNA in the other patient. Mutations at codon 132 of IDH1 cha . . .nge the enzymatic specificity of the cytoplasmic isocitrate dehydrogenase enzyme. They result in increased D-2-hydroxy-glutarate production, ?-ketoglutarate depletion, activation of HIF-1? (a key regulator of chondrocyte proliferation at the growth plate), and reduction of N-acetyl-aspartyl-glutamate level in glial cells. Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization. © 2011 Wiley Periodicals, Inc Daha fazlası Daha az

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings

Cakmak-Genc G. | Karakas-Celik S. | Dursun A. | Piskin I.E.

Article | 2015 | Gene568 ( 2 ) , pp.211 - 214

We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-q . . .ter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis. © 2015 Daha fazlası Daha az

Youngest netherton patient with infantile asthma [Infantil astimi olan en küçük netherton hastasi]

Kutsal E. | Gücüyener K. | Bakirtaş A. | Eldeş N. | Öztaş M. | Dursun A.

Article | 2008 | Tuberkuloz ve Toraks56 ( 1 ) , pp.104 - 108

Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six months old girl presenting with the feature of severe respiratory distress, generalized erythrodermia, and brittle hair.

Probing the dealloying critical potential morphological characterization and steady-state current behavior

Dursun A. | Pugh D.V. | Corcoran S.G.

Article | 2005 | Journal of the Electrochemical Society152 ( 2 ) , pp.104 - 108

Hypertrophic cardiomyopathy with midventricular obstruction in association with ostium secundum-type atrial septal defect

Aydin M. | Dogan S.M. | Gürsürer M. | Onuk T. | Dursun A. | Cam F.

Article | 2005 | European Journal of General Medicine2 ( 3 ) , pp.129 - 131

This paper reports a 74 year-old-man with a hypertrophic cardiomyopathy associated with mid-ventricular obstruction and a secundum type atrial septal defect. He had been suffering from shortness of breath and occasional attacks of dizziness. Doppler echocardiography revealed the gradient in the mid-left ventricular area. A transesophageal echocardiogram confirmed the findings of transthoracic study and an ostium secundum-type atrial septal defect was documented. The present case represents a rare combination of hypertrophic cardiomyopathy associated with midventricular obstruction, and an ostium secundum type atrial septal defect in . . . an elderly man Daha fazlası Daha az

The role of GNLY gene polymorphisms in psoriasis pathogenesis

Ermis E. | Celik S.K. | Solak N. | Genc G.C. | Dursun A.

Article | 2019 | Anais brasileiros de dermatologia94 ( 2 ) , pp.198 - 203

BACKGROUND: Psoriasis is a systemic inflammatory disorder that involves complex pathogenic interactions between the innate and adaptive immune systems. The most accepted mechanism in the etiopathogenesis of psoriasis is the induction of inflammation with keratinocyte hyperproliferation. Granulysin (GNLY) is a cytolytic antimicrobial peptide (AMP) that is secreted together with granzyme and perforin from the granules of human cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. It has been immunohistochemically proven that the expression of granulysin is increased in lesions of psoriasis. OBJECTIVE: This study aimed to inves . . .tigate the relationship between psoriasis disease and granulysin gene polymorphisms. METHODS: GNLY rs7908 and rs10180391 polymorphisms were studied by PCR-RFLP in 100 psoriasis patients under treatment in the Dermatology Polyclinic of Bulent Ecevit University. In addition, 100 healthy individuals with similar age and sex distribution were used as a control group. RESULTS: In the control group, GNLY rs7908 CC genotype was significantly higher than in psoriasis patients (P= 0.031; OR= 0.305; Cl= 0.305 (0.121 - 0.773). In our study, the genotype distributions in patients and control groups were GNLY rs7908 (SNP) GG (51%, 37%), GC (41%, 44%), CC (8%, 19%); GNLY rs10180391 (SNP) from the CC (41%, 44%), CT (42%, % 41), TT (17%, 15%). STUDY LIMITATIONS: The study only included Turkish patients. CONCLUSION: Our findings showed that GNLY rs7908 CC genotype and C allele had a protective effect against psoriasis and decreased the disease severity (according to PASI score), whereas rs10180391 SNP did not show any effective role in psoriasis pathogenesis Daha fazlası Daha az

Angiotensin-converting enzyme gene and endothelial nitric oxide synthase gene polymorphisms in Behçet's disease with or without ocular involvement

Dursun A. | Durakbasi-Dursun H.G. | Dursun R. | Baris S. | Akduman L.

Article | 2009 | Inflammation Research58 ( 7 ) , pp.401 - 405

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