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Dr. Mahmut Cerkez Ergoren
1. Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, 99138, Cyprus</br>2. DESAM Institute, Near East University, Nicosia, 99138, Cyprus

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0 Molecular Medicine
0 Genome editing
0 Rare disease
0 Population genetics and diversity
0 Mutation databases

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Original article
Published: 29 July 2021 in Australian Veterinary Journal
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A highly transmissible severe acute respiratory coronavirus 2 (SARS-CoV-2) caused the coronavirus diseases 2019 (COVID-19) pandemic, which resulted the highest morbidity and mortality rates among SARS-CoV and MERS-CoV. SARS-CoV-2 B.1.1.7 variant indicated the higher transmission among human-to-human and increasing hospitalisation. SARS-CoV-2 infection was observed in domestic animals showing human-to-pet transmission. In the current study, we report the first direct known human-to-cat transmission of the SARS-CoV-2 B.1.1.7 variant within the same family. Previous findings showed that companion animals can get infected by COVID-19 patients after 3–6 weeks; however, according to our molecular findings, the cat was infected by the viral variant at the same period. Moreover, B.1.1.7 infection caused and developed several clinical symptoms including cardiac and ocular abnormalities. Overall, our findings determined the first direct and high transmission ability of the B.1.1.7 variant from COVID-19 affected family members to cat. This result showed that the SARS-CoV-2 B.1.1.7 variant could have the highest transition capacity from human to domestic cat as shown for human-to-human. The governmental or worldwide policies should consider more detailed against the war with COVID-19 pandemic.

ACS Style

A Curukoglu; Mc Ergoren; Fe Ozgencil; S Sayiner; Me Ince; T Sanlidag. First direct human‐to‐cat transmission of the SARS‐CoV ‐2 B.1.1.7 variant. Australian Veterinary Journal 2021, 1 .

AMA Style

A Curukoglu, Mc Ergoren, Fe Ozgencil, S Sayiner, Me Ince, T Sanlidag. First direct human‐to‐cat transmission of the SARS‐CoV ‐2 B.1.1.7 variant. Australian Veterinary Journal. 2021; ():1.

Chicago/Turabian Style

A Curukoglu; Mc Ergoren; Fe Ozgencil; S Sayiner; Me Ince; T Sanlidag. 2021. "First direct human‐to‐cat transmission of the SARS‐CoV ‐2 B.1.1.7 variant." Australian Veterinary Journal , no. : 1.

Journal article
Published: 21 June 2021 in Genes
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Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardation, but there are conflicting interpretations about its pathogenicity. Overall, to our knowledge, this is the first patient representing a severe ciliopathy phenotype caused by a homozygous synonymous AHI1 variation. Further investigations should be performed to determine any involvement of the CC2D1A gene in ciliopathy phenotypes such as Joubert syndrome.

ACS Style

Gulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes 2021, 12, 945 .

AMA Style

Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime Temel, Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes. 2021; 12 (6):945.

Chicago/Turabian Style

Gulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. 2021. "A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype." Genes 12, no. 6: 945.

Journal article
Published: 01 June 2021 in Balkan Journal of Medical Genetics
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Obesity is as a global health problem due to its interaction with complex chronic disorders such as cardiovascular disorders, type 2 diabetes mellitus (T2DM) and cancer. Despite the fact that pathogenesis of obesity is not yet clearly understood, it is associated with a combination of psychological, environmental and various genetic factors. Here, employing a case-control design, we aimed to examine the effects of the GHRL c.152C>T (p.Arg51Gln) (rs34911341) and c.214G>T (p.Leu72Met) (rs696217) markers on susceptibility to obesity in a Turkish-Cypriot population, as well as to evaluate whether these markers affect biochemical parameters and show their putative functional consequences. This study involved 211 Turkish-Cypriot subjects (106 obese and 95 non obese). Genotyping for the GHRL gene polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Our results indicate that the GHRL Leu72Met polymorphism was found to be significantly higher in obese patients, with respect to genotypic (p = 0.0012) and allelic (p = 0.0005) frequencies. Strikingly, the rs696217 GT genotype (heterozygous) had significantly lower serum high-density lipoprotein cholesterol (HDL-C) (p = 0.015) than GG (wild type) genotypes. Overall, Leu72Met susceptibility variant may be considered as risk and crucial marker for both obesity and cholesterol metabolism in the community of Turkish-Cypriots. Thus, the dual effect of the GHRL gene Leu72Met variant may be used for clinical diagnosis.

ACS Style

E Becer; Mc Ergoren. Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity. Balkan Journal of Medical Genetics 2021, 24, 27 -34.

AMA Style

E Becer, Mc Ergoren. Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity. Balkan Journal of Medical Genetics. 2021; 24 (1):27-34.

Chicago/Turabian Style

E Becer; Mc Ergoren. 2021. "Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity." Balkan Journal of Medical Genetics 24, no. 1: 27-34.

Journal article
Published: 01 June 2021 in The EuroBiotech Journal
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A reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) is regarded as the most sensitive method available and is being used for screening procedure for all incoming passengers to Northern Cyprus for SARS-CoV-2. This study investigated the compatibility of two different RT-qPCR methodologies Diagnovital® and Bio-Speedy® by re-analyzing the previously confirmed positive samples. A total of 43 previously confirmed positive samples were re-analyzed by two different commercially available SARS-CoV-2 RT-qPCR kits. Only 23.5% of positive samples detected by Diagnovital® RT-qPCR kit were detected by Bio-Speedy® detection kit. In conclusion, adoption of Diagnovital® RT-qPCR kit detecting two regions of SARS-CoV-2 genome in our laboratories enabled the detection of SARS-CoV-2 in asymptomatic cases with higher sensitivity and contributed to the prevention of viral transmission within the country. The timely detection of infection in asymptomatic individuals may be the key to a successful fight against the COVID- 19 pandemic.

ACS Style

Gulten Tuncel; Mahmut Cerkez Ergoren; Buket Baddal; Pinar Tulay; Ayse Arikan; Emrah Guler; Cenk Serhan Ozverel; H. Kaya Suer; Murat Sayan; Tamer Sanlidag. Comparison of RT-qPCR results of different gene targets for SARS-CoV-2 in asymptomatic individuals during COVID-19 pandemic. The EuroBiotech Journal 2021, 5, 26 -31.

AMA Style

Gulten Tuncel, Mahmut Cerkez Ergoren, Buket Baddal, Pinar Tulay, Ayse Arikan, Emrah Guler, Cenk Serhan Ozverel, H. Kaya Suer, Murat Sayan, Tamer Sanlidag. Comparison of RT-qPCR results of different gene targets for SARS-CoV-2 in asymptomatic individuals during COVID-19 pandemic. The EuroBiotech Journal. 2021; 5 (s1):26-31.

Chicago/Turabian Style

Gulten Tuncel; Mahmut Cerkez Ergoren; Buket Baddal; Pinar Tulay; Ayse Arikan; Emrah Guler; Cenk Serhan Ozverel; H. Kaya Suer; Murat Sayan; Tamer Sanlidag. 2021. "Comparison of RT-qPCR results of different gene targets for SARS-CoV-2 in asymptomatic individuals during COVID-19 pandemic." The EuroBiotech Journal 5, no. s1: 26-31.

Original article
Published: 16 March 2021 in Global Medical Genetics
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Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circassians managed to reach the island, however, many of them had faced with endemic malaria again in Cyprus. An autosomal recessive hematological disorder thalassemia was the second endemic health condition after malaria, whereas thalassemia carriers show resistance to malaria infections. Materials and Methods A large Cypriot family with 57 members whose grandparents were supposed to be in that ship journey has been investigated in this study. Polymerase chain reaction (PCR)–amplification refractory mutation system (ARMS) analysis technique was used for genotyping the HHB gene. Results The human β-globin (HBB) gene c.316–106C > G (IVS-II-745) (II-745) heterozygous variation have been detected. Conclusion Overall, this study is a very good example for a typical natural selection. In this case, one single gene point mutation did not limit survival in the society; natively, it increased their survival changes to form new colonization and the inheritance of the mutation to the next generations.

ACS Style

Mahmut C. Ergoren; Sehime G. Temel; Gamze Mocan; Munis Dundar. The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus. Global Medical Genetics 2021, 08, 069 -071.

AMA Style

Mahmut C. Ergoren, Sehime G. Temel, Gamze Mocan, Munis Dundar. The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus. Global Medical Genetics. 2021; 08 (02):069-071.

Chicago/Turabian Style

Mahmut C. Ergoren; Sehime G. Temel; Gamze Mocan; Munis Dundar. 2021. "The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus." Global Medical Genetics 08, no. 02: 069-071.

Research article
Published: 15 February 2021 in Applied Immunohistochemistry & Molecular Morphology
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Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare genetic diseases. Pseudoachondroplasia (PSACH, MIM 177170) is a rare disease inherited in an autosomal dominant manner. It is known that variations in the cartilage oligomeric matrix protein (COMP) gene are associated with the disease. Here, we report a 39-month-old boy with short stature. He gave visible growth and development delayed phenotype after 12 months. Further genetic resequencing analysis was carried out to identified the disease-causing variant. Furthermore, computational approaches were used to characterize the effect of the variant. In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.

ACS Style

Gulten Tuncel; Nese Akcan; Seref Gul; Sebnem O. Sag; Ruveyde Bundak; Gamze Mocan; Sehime G. Temel; Mahmut C. Ergoren. Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia. Applied Immunohistochemistry & Molecular Morphology 2021, 29, 546 -550.

AMA Style

Gulten Tuncel, Nese Akcan, Seref Gul, Sebnem O. Sag, Ruveyde Bundak, Gamze Mocan, Sehime G. Temel, Mahmut C. Ergoren. Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia. Applied Immunohistochemistry & Molecular Morphology. 2021; 29 (7):546-550.

Chicago/Turabian Style

Gulten Tuncel; Nese Akcan; Seref Gul; Sebnem O. Sag; Ruveyde Bundak; Gamze Mocan; Sehime G. Temel; Mahmut C. Ergoren. 2021. "Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia." Applied Immunohistochemistry & Molecular Morphology 29, no. 7: 546-550.

Journal article
Published: 01 January 2021 in The EuroBiotech Journal
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The pandemic COVID-19 is caused by a highly transmissible severe acute respiratory coronavirus 2 (SARS-CoV-2) which showed the highest morbidity and mortality rates among the other coronavirus infections such as SARS-CoV and MERS-CoV. However, the numbers of infected cases as well as mortality rates are varying from population to population. Therefore, scientist has urged the SARS-CoV-2 genome and host genetic factors investigations. Recently, new SARS-CoV-2 variants has been detected and though to affect the diseases transmission from human to human. In this mini-review, we aimed to explained detected SARS-CoV-2 variants that thought to influence the COVID-19 severity and transmission using the literature.

ACS Style

Mahmut Cerkez Ergoren; Pinar Tulay; Munis Dundar. Are new genome variants detected in SARS-CoV-2 expected considering population dynamics in viruses? The EuroBiotech Journal 2021, 5, 1 -3.

AMA Style

Mahmut Cerkez Ergoren, Pinar Tulay, Munis Dundar. Are new genome variants detected in SARS-CoV-2 expected considering population dynamics in viruses? The EuroBiotech Journal. 2021; 5 (1):1-3.

Chicago/Turabian Style

Mahmut Cerkez Ergoren; Pinar Tulay; Munis Dundar. 2021. "Are new genome variants detected in SARS-CoV-2 expected considering population dynamics in viruses?" The EuroBiotech Journal 5, no. 1: 1-3.

Journal article
Published: 01 October 2020 in The EuroBiotech Journal
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Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.

ACS Style

Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Havva Cobanogullari; Gulten Tuncel; Meryem Betmezoglu; Matteo Bertelli; Tamer Sanlidag. The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute. The EuroBiotech Journal 2020, 4, 167 -170.

AMA Style

Mahmut Cerkez Ergoren, Elena Manara, Stefano Paolacci, Havva Cobanogullari, Gulten Tuncel, Meryem Betmezoglu, Matteo Bertelli, Tamer Sanlidag. The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute. The EuroBiotech Journal. 2020; 4 (4):167-170.

Chicago/Turabian Style

Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Havva Cobanogullari; Gulten Tuncel; Meryem Betmezoglu; Matteo Bertelli; Tamer Sanlidag. 2020. "The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute." The EuroBiotech Journal 4, no. 4: 167-170.

Review article
Published: 28 September 2020 in Critical Reviews in Oncology/Hematology
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Personalized medicine holds promise to tailor the treatment options for patients’ unique genetic make-up, behavioral and environmental background. Liquid biopsy is non-invasive technique and precise diagnosis and treatment approach. Significantly, NGS technologies have revolutionized the genomic medicine by novel identifying SNPs, indel mutations in both coding and non-coding regions and also a promising technology to accelerate the early detection and finding new biomarkers for diagnosis and treatment. The number of the bioinformatics tools have been rapidly increasing with the aim of learning more about the detected mutations either they have a pathogenic role or not. EGFR, ROS1 and ALK genes are members of the RTK family. Until now, mutations within these genes have been associated with many cancers and involved in resistance formation to TKIs. This review article summarized the findings about the mostly investigated variations in EGFR, ROS1 and ALK genes and their potential role in liquid biopsy approach.

ACS Style

Mahmut Cerkez Ergoren; Havva Cobanogulları; Sehime Gulsun Temel; Gamze Mocan. Functional coding/non-coding variants in EGFR, ROS1 and ALK genes and their role in liquid biopsy as a personalized therapy. Critical Reviews in Oncology/Hematology 2020, 156, 103113 .

AMA Style

Mahmut Cerkez Ergoren, Havva Cobanogulları, Sehime Gulsun Temel, Gamze Mocan. Functional coding/non-coding variants in EGFR, ROS1 and ALK genes and their role in liquid biopsy as a personalized therapy. Critical Reviews in Oncology/Hematology. 2020; 156 ():103113.

Chicago/Turabian Style

Mahmut Cerkez Ergoren; Havva Cobanogulları; Sehime Gulsun Temel; Gamze Mocan. 2020. "Functional coding/non-coding variants in EGFR, ROS1 and ALK genes and their role in liquid biopsy as a personalized therapy." Critical Reviews in Oncology/Hematology 156, no. : 103113.

Journal article
Published: 25 September 2020 in Current Drug Metabolism
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Background: The use of psychoactive substances is one of the most dangerous social problems worldwide. Nicotine dependence results from the interaction between neurobiological, environmental and genetic factors. Serotonin is a neurotransmitter that has a wide range of central nervous system activities. The serotonin transporter gene has been previously linked to psychological traits. Objective: A variable number of tandem repeats within the serotonin transporter-linked polymorphic gene region are believed to alter the transcriptional efficiency of the 5-HTT gene. Therefore, we aimed to investigate the association between this polymorphic site and smoking behavior in the Turkish Cypriot population. Methods: A total of 259 (100 smokers, 100 non-smokers and 59 ex-smokers) Turkish Cypriots were included in this population-based cross-sectional study. Genomic DNA was extracted from peripheral blood samples and the 5-HTTVNTR2 polymorphisms were determined by the PCR-RFLP. Results: The allelic frequency and genotype distribution results of this study showed a strong association (P Conclusion: This is the first genetic epidemiology study to investigate the allelic frequencies of 5-HTTVNTR2 polymorphisms associated with smoking behavior in the Turkish Cypriot population. Based on the results of this study, genome-wide association studies should be designed for preventive medicine in this population.

ACS Style

Emine Kandemis; Gulten Tuncel; Ozen Asut; Sehime G. Temel; Mahmut C. Ergoren. Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population. Current Drug Metabolism 2020, 21, 466 -470.

AMA Style

Emine Kandemis, Gulten Tuncel, Ozen Asut, Sehime G. Temel, Mahmut C. Ergoren. Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population. Current Drug Metabolism. 2020; 21 (6):466-470.

Chicago/Turabian Style

Emine Kandemis; Gulten Tuncel; Ozen Asut; Sehime G. Temel; Mahmut C. Ergoren. 2020. "Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population." Current Drug Metabolism 21, no. 6: 466-470.

Clinical microbiology research paper
Published: 31 July 2020 in Brazilian Journal of Microbiology
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Recent UNAIDS reports (December 2019) indicate that 37.9 million people have been affected by HIV infection around the globe in 2018, of which 1.7 million are cited as new infections. Human immunodeficiency virus-1 (HIV-1) requires both the CD4 receptor, as the primary receptor, and a chemokine co-receptor to gain entry into the cell. In addition to the WT allele for C–C motif chemokine receptor 5 (CCR5-wt), there is another allele with a 32 bp deletion in the protein coding region (CCR5-Δ32). Individuals who are homozygous for the mutant allele are resistant towards M-tropic HIV infections. In the current study, we aimed to determine the CCR5-Δ32 allele frequency in the Turkish Cypriot population with 326 subjects, 141 men (43.1%) and 185 (56.9%) women. The region of the CCR5 gene containing the Δ32 deletion was amplified using flanking primers. The CCR5 gene Δ32 allele frequency was calculated at 3% and only observed in heterozygous individuals. We hope that our current publication could be a point of dialog between the physicians, the government officials and the public set up a more modern and well-structured HIV screening program in an effort to control and hopefully eliminate HIV from the Turkish Cypriot population.

ACS Style

Umut Fahrioglu; Mahmut Cerkez Ergoren; Gamze Mocan. CCR5-Δ32 gene variant frequency in the Turkish Cypriot population. Brazilian Journal of Microbiology 2020, 1 -7.

AMA Style

Umut Fahrioglu, Mahmut Cerkez Ergoren, Gamze Mocan. CCR5-Δ32 gene variant frequency in the Turkish Cypriot population. Brazilian Journal of Microbiology. 2020; ():1-7.

Chicago/Turabian Style

Umut Fahrioglu; Mahmut Cerkez Ergoren; Gamze Mocan. 2020. "CCR5-Δ32 gene variant frequency in the Turkish Cypriot population." Brazilian Journal of Microbiology , no. : 1-7.

Journal article
Published: 18 June 2020 in European Journal of Human Genetics
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Neonatal progeroid syndrome or Wiedemann–Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in the POLR3A (RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in the POLR3A gene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.

ACS Style

Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Gulten Tuncel; Seref Gul; Matteo Bertelli. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome. European Journal of Human Genetics 2020, 28, 1675 -1680.

AMA Style

Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Elena Manara, Stefano Paolacci, Gulten Tuncel, Seref Gul, Matteo Bertelli. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome. European Journal of Human Genetics. 2020; 28 (12):1675-1680.

Chicago/Turabian Style

Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Gulten Tuncel; Seref Gul; Matteo Bertelli. 2020. "Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome." European Journal of Human Genetics 28, no. 12: 1675-1680.

Review
Published: 18 June 2020 in The Eurasian Journal of Medicine
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ACS Style

Niyazi Senturk; Mahmut Cerkez Ergoren. Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study. The Eurasian Journal of Medicine 2020, 52, 153 -160.

AMA Style

Niyazi Senturk, Mahmut Cerkez Ergoren. Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study. The Eurasian Journal of Medicine. 2020; 52 (2):153-160.

Chicago/Turabian Style

Niyazi Senturk; Mahmut Cerkez Ergoren. 2020. "Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study." The Eurasian Journal of Medicine 52, no. 2: 153-160.

Review
Published: 14 April 2020 in Clinical Nutrition ESPEN
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The Obesity is related to type 2 diabetes, and diseases with metabolic syndrome characteristics such as dyslipidemia, hypertension and cardiovascular illness. The nutrition is the most important environmental factor that modulates the phenotype type of obesity. The impacts of nutrients might modulate the gene expression. The recent studies have focused on the relationship between obesity in terms of gene-environment interactions. There is a relationship between genetic indicators, fat mass accumulation, body composition and Mediterranean diet. The evaluation of nutrition treatment or interventions together with the genetic state; provides to manage or prevent the development of chronic diseases. As a result of nutrigenetic studies; specific nutrition factors in Mediterranean Diet have positive effects on gene expressions related to obesity. In the future, the rapidly-developing nutrition science and the optimal nutrition model special for individuals might play an important role in terms of health development and healing. This metanalysis aimed to explain the current status and relationship between metabolic syndrome indicators that are related to obesity and the gene-nutrient interactions within the Mediterranean Diet.

ACS Style

Cangul Tuncay; Mahmut Cerkez Ergoren. A systematic review of precision nutrition and Mediterranean Diet: A personalized nutrition approaches for prevention and management of obesity related disorders. Clinical Nutrition ESPEN 2020, 38, 61 -64.

AMA Style

Cangul Tuncay, Mahmut Cerkez Ergoren. A systematic review of precision nutrition and Mediterranean Diet: A personalized nutrition approaches for prevention and management of obesity related disorders. Clinical Nutrition ESPEN. 2020; 38 ():61-64.

Chicago/Turabian Style

Cangul Tuncay; Mahmut Cerkez Ergoren. 2020. "A systematic review of precision nutrition and Mediterranean Diet: A personalized nutrition approaches for prevention and management of obesity related disorders." Clinical Nutrition ESPEN 38, no. : 61-64.

Article
Published: 01 April 2020 in Human Ecology
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ACS Style

Khalil Avi Betz Heinemann; Meryem Betmezoğlu; Mahmut Cerkez Ergoren; Wayne J. Fuller. A Murder of Crows: Culling Corvids in Northern Cyprus. Human Ecology 2020, 48, 245 -249.

AMA Style

Khalil Avi Betz Heinemann, Meryem Betmezoğlu, Mahmut Cerkez Ergoren, Wayne J. Fuller. A Murder of Crows: Culling Corvids in Northern Cyprus. Human Ecology. 2020; 48 (2):245-249.

Chicago/Turabian Style

Khalil Avi Betz Heinemann; Meryem Betmezoğlu; Mahmut Cerkez Ergoren; Wayne J. Fuller. 2020. "A Murder of Crows: Culling Corvids in Northern Cyprus." Human Ecology 48, no. 2: 245-249.

Preprint content
Published: 15 October 2019
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Male infertility affects ∼7% of men in Western societies, but its causes remain poorly understood. The most clinically severe form of male infertility is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so far only few genes have been reported to cause germ cell arrest in males. To address this gap, whole exome sequencing was performed in 60 German men with complete meiotic arrest, and we identified in three unrelated men the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP, encoding meiosis 1 arresting protein. Then, with collaborators from the International Male Infertility Genomics Consortium (IMIGC), we screened a Dutch cohort comprising 99 infertile men and detected the same homozygous variant c.676dup in a man with hypospermatogenesis predominantly displaying meiotic arrest. We also identified two Portuguese men with NOA carrying likely biallelic loss-of-function (LoF) and missense variants in M1AP among men screened by the Genetics of Male Infertility Initiative (GEMINI). Moreover, we discovered a homozygous missense variant p.(Pro389Leu) in M1AP in a consanguineous Turkish family comprising five infertile men. M1AP is predominantly expressed in human and mouse spermatogonia up to secondary spermatocytes and previous studies have shown that knockout male mice are infertile due to meiotic arrest. Collectively, these findings demonstrate that both LoF and missense M1AP variants that impair its protein cause autosomal-recessive meiotic arrest, non-obstructive azoospermia and male infertility. In view of the evidence from several independent groups and populations, M1AP should be included in the growing list of validated NOA genes.

ACS Style

Margot J. Wyrwoll; Şehime G. Temel; Liina Nagirnaja; Manon S. Oud; Alexandra M. Lopes; Godfried W. Van Der Heijden; Nadja Rotte; Joachim Wistuba; Marius Wöste; Susanne Ledig; Henrike Krenz; Roos M. Smits; Filipa Carvalho; João Gonçalves; Daniela Fietz; Burcu Türkgenç; Mahmut C. Ergören; Murat Çetinkaya; Murad Başar; Semra Kahraman; Adrian Pilatz; Albrecht Röpke; Martin Dugas; Sabine Kliesch; Nina Neuhaus; Kenneth I. Aston; Donald F. Conrad; Joris A. Veltman; Corinna Friedrich; Frank Tüttelmann; GEMINI Consortium. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. 2019, 803346 .

AMA Style

Margot J. Wyrwoll, Şehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. Van Der Heijden, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, João Gonçalves, Daniela Fietz, Burcu Türkgenç, Mahmut C. Ergören, Murat Çetinkaya, Murad Başar, Semra Kahraman, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann, GEMINI Consortium. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. . 2019; ():803346.

Chicago/Turabian Style

Margot J. Wyrwoll; Şehime G. Temel; Liina Nagirnaja; Manon S. Oud; Alexandra M. Lopes; Godfried W. Van Der Heijden; Nadja Rotte; Joachim Wistuba; Marius Wöste; Susanne Ledig; Henrike Krenz; Roos M. Smits; Filipa Carvalho; João Gonçalves; Daniela Fietz; Burcu Türkgenç; Mahmut C. Ergören; Murat Çetinkaya; Murad Başar; Semra Kahraman; Adrian Pilatz; Albrecht Röpke; Martin Dugas; Sabine Kliesch; Nina Neuhaus; Kenneth I. Aston; Donald F. Conrad; Joris A. Veltman; Corinna Friedrich; Frank Tüttelmann; GEMINI Consortium. 2019. "Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility." , no. : 803346.

Review article
Published: 03 July 2019 in Medical Oncology
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BRCA1 is involved in double-strand DNA damage repair pathways, and mutations in the gene are associated with hereditary breast and ovarian cancers. With great help of the development of high-throughput DNA sequencing techniques numerous single-nucleotide polymorphisms (SNPs) and insertion deletion (Indel) mutations are detected on both coding and non-coding/regulatory regions of the BRCA1. Mutations may cause pathogenic or benign changes on the protein function or affect its expression. In the last decade, use of genetic screening tests to detect mutations on such genes has become greatly popular. However, it is very important to know the effect of the detected mutations, which is mostly possible by the use of predictive softwares, and also the related family history to be able to correctly analyse the screening results and to inform the patient. Therefore, use of in silico and in vitro techniques to score the pathogenicity of detected variants on genes like BRCA1 is now of great importance. Otherwise, results obtained from screening tests and family history cannot be analysed precisely.

ACS Style

Gulten Tuncel; Mahmut Çerkez Ergören. Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening. Medical Oncology 2019, 36, 71 .

AMA Style

Gulten Tuncel, Mahmut Çerkez Ergören. Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening. Medical Oncology. 2019; 36 (8):71.

Chicago/Turabian Style

Gulten Tuncel; Mahmut Çerkez Ergören. 2019. "Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening." Medical Oncology 36, no. 8: 71.

Original article
Published: 12 April 2019 in Molecular Biology Reports
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Vitamin D is an important molecule to keep teeth, bones and muscles healthy. It is obtained from diet, supplements and primarily from exposure to sunlight. In recent years, vitamin D deficiency is recognised as a worldwide health problem, which results in disturbances in mineral metabolism and skeletal problems. Deficiency might be caused due to sedentary lifestyle, insufficient diet, age as well as some polymorphisms in the VDR gene. In this study the four most common VDR polymorphisms (rs1544410 (BsmI), rs731236 (TaqI), rs7975232 (ApaI) and rs2228570 (FokI)) are investigated in a cohort of Turkish Cypriots and aimed to detect any possible links between low serum vitamin D levels and these variants. The rs2228570 (FokI) variant but not others were shown to have a significant association with decreased serum vitamin D levels in the Turkish Cypriot population.

ACS Style

Gulten Tuncel; Sehime Gulsun Temel; Mahmut Cerkez Ergoren. Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots. Molecular Biology Reports 2019, 46, 3349 -3355.

AMA Style

Gulten Tuncel, Sehime Gulsun Temel, Mahmut Cerkez Ergoren. Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots. Molecular Biology Reports. 2019; 46 (3):3349-3355.

Chicago/Turabian Style

Gulten Tuncel; Sehime Gulsun Temel; Mahmut Cerkez Ergoren. 2019. "Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots." Molecular Biology Reports 46, no. 3: 3349-3355.

Clinical trial
Published: 14 November 2018 in International Journal of Biological Macromolecules
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Cardiovascular diseases, particularly coronary artery disease (CAD) and myocardial infarction, are the leading cause of death among people worldwide. CAD is exceedingly complex in its interplay of environment and genetics, with numerous genetic loci contributing to its heritability. Here, we aim at looking into the effects of the NOS3 c.894G>T and 27-bp VNTR polymorphisms on susceptibility to CAD in a population of Turkish Cypriots, at seeing whether these effects correlate with plasma lipid levels and at predicting the functional consequences of each polymorphism tested. A total of 50 subjects with CAD and 100 otherwise healthy subjects were included in the present case–control study. Genomic DNA was extracted from peripheral blood samples, and the two NOS3 polymorphisms were determined by restriction endonuclease analysis of PCR amplicons. Complementary methods of statistical analysis and computational modeling were employed accordingly to achieve the aims above. Our findings show that the 27-bp VNTR polymorphic locus, but not the c.894G>T polymorphic locus, is associated with CAD and that it may regulate NOS3 pre-mRNA splicing in a length-dependent manner. Overall, along with additional, yet-to-be ascertained susceptibility markers the 27-bp VNTR 4a/4b marker may be employed in risk stratification in community-level screening for CAD among Turkish Cypriots.

ACS Style

Kerem Teralı; Mahmut Çerkez Ergören. The contribution of NOS3 variants to coronary artery disease: A combined genetic epidemiology and computational biochemistry perspective. International Journal of Biological Macromolecules 2018, 123, 494 -499.

AMA Style

Kerem Teralı, Mahmut Çerkez Ergören. The contribution of NOS3 variants to coronary artery disease: A combined genetic epidemiology and computational biochemistry perspective. International Journal of Biological Macromolecules. 2018; 123 ():494-499.

Chicago/Turabian Style

Kerem Teralı; Mahmut Çerkez Ergören. 2018. "The contribution of NOS3 variants to coronary artery disease: A combined genetic epidemiology and computational biochemistry perspective." International Journal of Biological Macromolecules 123, no. : 494-499.

Journal article
Published: 07 November 2018 in International Journal of Biological Macromolecules
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The ACE INDEL gene polymorphisms are strongly associated with CAD. Therefore, the present study was undertaken to investigate the relationship between ACE INDEL polymorphism and CAD in Turkish Cypriots whose are expected to have Mediterranean-style diet. 273 Turkish Cypriot descent volunteer subjects (186 controls and 87 CAD patients) participated in this study. Genotyping for the ACE INDEL polymorphism was performed by PCR-RFLP analysis. Biochemical parameters except the glucose and triglyceride lipid level were all within normal limits. Glucose level was found significant (p = 0.019) and triglyceride level was observed at the borderline for significance (p = 0.050) in participants according to WHO guidelines. With the respect to the genotype and allele distributions of ACE INDEL, the results showed statistically significant in CAD patients (p = 0.034) and not significant (p = 0.190) in controls. Haplotype analysis showed that D allele was more frequent in patients compared to controls. Thus, there is a statistically significant association with CAD disease with DD genotypes (p = 0.030) in Turkish Cypriot population. The results indicated that ACE INDEL polymorphism is an important predictor of coronary artery disease in Turkish Cypriots. Although 47% of the studied Turkish Cypriot population carry the D allele (p = 0.07), protocols should be developed for prevention strategies immediately.

ACS Style

Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Izel Yilmaz; Haluk Barbaros Oral. The use of ACE INDEL polymorphism as a biomarker of coronary artery disease (CAD) in humans with Mediterranean-style diet. International Journal of Biological Macromolecules 2018, 123, 576 -580.

AMA Style

Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Izel Yilmaz, Haluk Barbaros Oral. The use of ACE INDEL polymorphism as a biomarker of coronary artery disease (CAD) in humans with Mediterranean-style diet. International Journal of Biological Macromolecules. 2018; 123 ():576-580.

Chicago/Turabian Style

Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Izel Yilmaz; Haluk Barbaros Oral. 2018. "The use of ACE INDEL polymorphism as a biomarker of coronary artery disease (CAD) in humans with Mediterranean-style diet." International Journal of Biological Macromolecules 123, no. : 576-580.