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Antileukemic Effects of Anti-miR-146a, Anti-miR-155, Anti-miR-181a, and Prednisolone on Childhood Acute Lymphoblastic Leukemia
(Hindawi Limited, 2021) Durmaz B.; Bagca B.G.; Cogulu O.; Susluer S.Y.; Alpay A.; Aksoylar S.; Gunduz C.
Prednisolone has been used frequently in the treatment of acute lymphoblastic leukemia. However, to overcome the challenges of the treatment, the development of additional therapies is of great importance. Small, non-protein-coding RNAs, namely, microRNAs (miRNAs), are critical epigenetic regulators with physiological and pathological importance. This study is aimed at determining the effects of miR-146a, miR-155, and miR-181a inhibition with their corresponding anti-miRs on both leukemic and healthy cells, individually and with prednisolone. Leukemic (SUP-B15) and healthy B-lymphocyte (NCI-BL 2171) cell lines were used in this study. A total of 12 experimental groups included individual and combinational silenced ALL-associated miRNAs (hsa-miR-155, hsa-miR-146a, and hsa-miR-181a) and their combination with prednisolone. Cytotoxicity, proliferation, cell cycle, and apoptosis analyses were performed by using WST-1, trypan blue, APC-BrdU, Annexin V, and JC-1 methods in each study group, respectively. To control the effectiveness of anti-miR transfection and prednisolone application, miRNA expression analysis was performed from all groups. Anti-miR application was effective on the viability, proliferation, cell cycle, and apoptosis of leukemia cells, and this effect was increased with prednisolone administration. In addition, this activity was found to be very low on healthy cells. In conclusion, anti-miR applications may have the potential for clinical use of adjuvant to or as an alternative to conventional therapies for childhood acute lymphoblastic leukemia. © 2021 Burak Durmaz et al.
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: A novel finding in whole exome sequencing
(Lippincott Williams and Wilkins, 2021) Cogulu O.; Mojarrab N.; Simsir O.S.; Durmaz A.; Aykut A.; Cogulu D.
Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
A case of brachman de lange syndrome with cerebellar vermis hypoplasia [2]
(Chapman and Hall Ltd, 1998) Özkınay F.; Cogulu O.; Gündüz C.; Levent E.; Özkınay, Cihangir
[No abstract available]
A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux [3]
(2007) Cogulu O.; Durmaz B.; Özkınay, Cihangir; Özkınay F.
[No abstract available]
Chorionic villus biopsy amniocentesis for prenatal diagnosis [Prenatal tanida koryonik villus biyopsisi ve amniyotik sivi incelemesi]
(1997) Cogulu O.
Chorionic villus biopsy and amniocentesis, the most widely used prenatal diagnosis methods, have been reviewed for their indications, techniques, complications and predictivities.
Cleidocranial dysplasia with new additional findings [2]
(2004) Cogulu O.; Munanoglu D.; Karaca E.; Onay H.; Özkınay F.
[No abstract available]
Comparison of CD38, ZAP70 and hTERT expression with known prognostic markers in patients with chronic lymphocytic leukemia during five-year follow- up period [Kronik lenfositik lösemili hastalarda bilinen prognostik belirteçlerin cd38 zap70 ve htert ekspresyonları ile beş yıllık takip döneminde karşılaştırılması]
(UHOD - Uluslararasi Hematoloji Onkoloji Dergisi, 2014) Vural F.; Karaca E.; Soyer N.; Gunduz C.; Sahin F.; Kosova B.; Saydam, G..; Cagirgan S.; Tombuloglu M.; Özkınay F.; Cogulu O.
Chronic Lymphocytic Leukemia (CLL) is the most common leukemia in adults. Recently CD38, ZAP70 and hTERT activity have been studied for the evaluation of the prognosis of CLL besides clinical staging and lymphocyte doubling time. There are inconsistent results regarding these markers for the evaluation of the prognosis in CLL patients. In this study CD38, ZAP70 and hTERT values in CLL patients were measured to make comparisons between each other and known prognostic factors. Thirty CLL patients who were included in the study were followed up for 5 years after the initial diagnosis. The mean hTERT value in CLL and control cases were 1.00±1.31 and 3.89±3.58, respectively (p< 0.05). The mean CD38 and ZAP70 were 6.20±7.60 and 5.51±5.67, respectively. No significant association was detected between CD38, ZAP70 and hTERT activity. There was no correlation between those parameters and known prognostic parameters such as Rai staging, peripheral lymphocyte levels, age, and sex of the patients, beta-2 microglobulin and reply to treatment in CLL. The overall five-year survival rate in CLL patients is 96.7%. The overall five-year survival rate in CLL patients is 96.7%. In conclusion, further studies including larger series of patients with longer follow-up periods are recommended. © 2014, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved.
Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever (Clinical Rheumatology, (2019), 38, 3, (635-643), 10.1007/s10067-017-3914-0)
(Springer London, 2019) Hortu H.O.; Karaca E.; Sozeri B.; Gulez N.; Makay B.; Gunduz C.; Atik T.; Tekin I.M.; Unsal S.E.; Cogulu O.
The name of the last author of this article was incorrectly presented as “Cogulu Ozgur” this should have been “Ozgur Cogulu”. © 2019, International League of Associations for Rheumatology (ILAR).
A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange Syndrome phenotype
(2005) Egemen A.; Ulger Z.; Özkınay F.; Gulen F.; Cogulu O.
A de novo T (X;8)(p11.2; q24.3) demonstrating Cornelia De Lange Syndrome phenotype: Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8)(p11.2; q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2; q24.3) was not reported so far in Cornelia de Lange syndrome.
Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis
(2012) Cogulu O.; Pariltay E.; Durmaz A.A.; Aykut A.; Gunduz C.; Ozbaran B.; Aydin H.H.; Erermis S.; Aydin C.; Özkınay F.
[No abstract available]
Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease [2]
(2004) Alpman A.; Bora E.; Karaca E.; Cankaya T.; Onay H.; Cogulu O.; Gunduz C.; Kleijer W.J.; Özkınay F.
[No abstract available]
Determination of fetal Rhesus D status by maternal plasma DNA analysis
(Walter de Gruyter GmbH, 2013) Aykut A.; Onay H.; Sagol S.; Gunduz C.; Özkınay F.; Cogulu O.
In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/ chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample )case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false- positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl
(2007) Cogulu O.; Gunduz C.; Karaca E.; Onay H.; Superti-Furga A.; Özkınay F.
Vertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature.
The emphasis of tumor suppressor genes and oncogenes in diagnosis and prognosis of anaplastic brain tumors [Anaplastik beyin tümörlerinin tani{dotless} ve prognozunda tümör süpressör genlerin ve onkogenlerin önemi]
(2012) Avci Ç.B.; Susluer S.Y.; Dodurga Y.; Akalin T.; Cogulu O.; Dalbasti T.; Oktar N.; Gunduz C.
The aim of the study is to the determine the profiles of tumor suppressor genes and oncogenes which cause brain tumor, establishing the association between the prognosis of cancer and the quantitation of genetic and epigenetic changes, and bringing a molecular approach to definite diagnosis. For this purpose, explant cell cultures are performed from the anaplastic brain tumor tissues of the cases. The expression analysis of the tumor suppressor genes (p53, RB1, PTEN, MGMT, RUNX3, DMBT1, PIKE) and oncogenes (EGFR, PIK3CA, MDM2, Olig2, GSTT1, COX-2 and hTERT) were determined by comparing the expression of GAPDH housekeeping gene using real-time online RT-PCR. The promoter regions of all the tumor suppressor genes' hypermethylation and also methylated and unmethylated copy numbers were determined with Q-PCR by using methylation specific primer and probes and the quantitation was carried out by comparing with each other. A significant difference was determined among the oncogenes; EGFR and hTERT gene expressions in patient tumor group. hTERT gene expression showed a significant difference with tumor grades. DMBT1 gene expression showed a significant difference with tumor grades. A prominent decrease was found in the aberration of tumor suppressor gene copy number in the glioma group. Gene copy number and gene expression of GSTT1 gene showed a significant correlation. RB1 and MGMT promoter methylation showed a significant difference in tumor patient group. Over expression of PIK3CA, EGFR and COX-2 among oncogenes and loss of copy number of PTEN, RB1 and RUNX3 among tumor suppressor genes found associated with short survival.
Erratum: The genotoxic effect of radiofrequency waves on mouse brain (Journal of Neuro-Oncology (2012) 106 (53-58) DOI: 10.1007/s11060-011-0644-z)
(2012) Karaca E.; Durmaz B.; Aktug H.; Yildiz T.; Guducu C.; Irgi M.; Koksal M.G.C.; Özkınay F.; Gunduz C.; Cogulu O.
[No abstract available]
The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases
(2008) Cogulu O.; Kosova B.; Gunduz C.; Karaca E.; Aksoylar S.; Erbay A.; Karapinar D.; Vergin C.; Vural F.; Tombuloglu M.; Cetingul N.; Özkınay F.
The aim of this study is to evaluate (1) the human telomerase-specific reverse transcriptase (hTERT) mRNA expression in childhood acute leukemia, (2) the association between the hTERT mRNA expression with the patients' characteristics and the known prognostic factors and (3) the correlation of the patients' survival with the initial hTERT mRNA value at diagnosis. A total of 40 newly diagnosed patients consist of children [31 cases with acute lymphoblastic leukemia (ALL) and 9 cases with acute myeloblastic leukemia (AML)] were prospectively included into the study. The online real-time reverse- transcriptase PCR was used for the quantification of hTERT in bone marrow (BM). All cases were re-evaluated for their survival after 2 years. The highest hTERT mRNA value was observed in Pre B-cell ALL patients followed by B-cell ALL, T-cell ALL and AML. The hTERT mRNA relative ratio difference between the ALL and AML groups was significant. No significant association was found when hTERT mRNA expression was evaluated in relation with the hematological parameters (except hemoglobin level), blast percentages and the risk groups. No significant difference was determined between the rate of complete remission and relapse of cases with the hTERT mRNA values in all malignancy groups. Patients who had higher initial hTERT mRNA values showed significantly longer disease-free survival (DFS) and overall survival (OS) in ALL (P = 0.000 and 0.01, respectively). Although DFS and OS was longer in AML patients with lower initial hTERT mRNA, the difference was not significant. In conclusion, the hTERT mRNA expression values were not significantly associated with the known prognostic factors in children both with ALL and AML. hTERT mRNA value is a significant factor for childhood ALL at diagnosis in relation to the estimated survival. © 2008 The Japanese Society of Hematology.
Evaluation of telomerase mRNA (hTERT) in childhood acute leukemia
(2004) Cogulu O.; Kosova B.; Karaca E.; Gunduz C.; Özkınay F.; Aksoylar S.; Gulen H.; Kantar M.; Oniz H.; Karapinar D.; Cetingul N.; Erbay A.; Vergin C.; Özkınay, Cihangir
Human telomerase reverse transcriptase (hTERT) is the catalytic component of telomerase enzyme and has been shown to be associated with telomerase activity (TA). Although many studies in adult leukemia have established the importance of TA, very few have been reported in the children. In this study hTERT levels in childhood leukemia was evaluated and compared with the prognostic factors described before. The LightCycler instrument was used (online real-time PCR) for the quantification of hTERT in peripheral blood and bone marrow in 23 cases with acute lymphoblastic leukemia (ALL) and in 8 cases with acute myeloblastic leukemia (AML). Ten cases with normal peripheral blood (PB) and bone marrow (BM) were selected as control group. Cytogenetic analyses were available in 21 patients with leukemia. In all cases with acute leukemia and in control group, peripheral blood (PB) hTERT levels correlated significantly with bone marrow (BM) hTERT levels. Before treatment, patients with ALL had significantly higher hTERT levels than that of AML patients and control cases. Among patients with ALL, higher hTERT levels were observed in patients with pre-B leukemia, followed by B cell and T cell leukemia patients. Initially increased hTERT levels decreased to the nearly normal levels during remission in cases with ALL. No correlation was observed between the initial hTERT levels and the known prognostic factors except cytogenetic findings. Higher hTERT levels were detected in patients having karyotypic abnormalities which indicate poor prognosis. hTERT levels are significantly high in childhood ALL with the highest level of pre-B cell leukemia before treatment. Those high levels of hTERT decrease to almost normal levels in remission. hTERT levels might be useful in monitoring of leukemia in children. © 2004 Taylor & Francis Ltd.
The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.
(2009) Durmaz B.; Alpman A.; Pariltay E.; Akgul M.; Ataman E.; Kirbiyik O.; Cogulu O.; Özkınay F.
Our study aimed to review and evaluate the referral reasons of patients at Department of Pediatric Genetics, Ege University, between 1998 and 2006. In total, 2342 patients were referred to the pediatrics outpatient clinic for dysmorphological examination and suspected genetic conditions. The files were evaluated retrospectively, and they were grouped into five categories. The subgroups included mental retardation (MR)-multiple congenital anomalies and isolated anomalies in 1472 (62.85%), syndromes that may be associated with cytogenetic abnormalities in 634 (27.07%), suspected single-gene disorders in 134 (5.72%), suspected microdeletion syndromes in 48 (2.05%), and other genetic conditions comprising complex multifactorial disorders and ambiguous genitalia in 54 (2.31%). These data have provided useful information on the frequency of different groups of genetic diseases, genetic causes of MR, and the feasibility of genetic services. In conclusion, genetic service should be encouraged among physicians and patients in addition to the diagnosis, prognosis, and disease management efforts.
Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy.
(2009) Cogulu O.; Durmaz B.; Pehlivan S.; Alpman A.; Özkınay F.
[No abstract available]
A further patient of pure 15q deletion: Clinical and molecular cytogenetic findings
(Editions Medecine et Hygiene, 2016) Solmaz A.E.; Durmaz B.; Braekeleer M.D.; Cogulu O.; Özkınay F.
A further patient of pure I5q deletion: clinical and molecular cytogenetic findings: A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated I5q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, who was referred to the Pediatric Genetics Department with growth retardation and multiple congenital abnormalities. In her medical history, she had a cleft palate, hip dislocation and crossed renal ectopia. Dysmorphological evaluation revealed a triangular face, low-set ears, fissured cleft tongue, micrognathia, proximally placed hypoplastic thumbs, genu valgus, 2-3 toe skin syndactyly, clinodactyly and nail hypoplasia. Speech problems were also noticed. The karyotype was normal. Subtelomeric fluorescent in-situ hybridisation (FISH) analysis showed a de novo terminal deletion about 755 kb. Furthermore, the breakpoint was located within the CHSYI gene that is responsible for Temtamy preaxial brachydactyly syndrome which shares clinical features with 15qter deletion syndrome. To the best of our knowledge, this deletion is the smallest among reported patients. It is considered that the patient presented here significant contribution to phenotype-genotype correlation in I5q deletion patients.

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