Browsing by Author "Akin, Haluk"

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    Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
    (Springer Heidelberg, 2022-01-31) Dundar, Munis; Fahrioglu, Umut; Yildiz, Saliha Handan; Bakir-Gungor, Burcu; Temel, Sehime Gulsun; Akin, Haluk; Artan, Sevilhan; Cora, Tulin; Sahin, Feride Iffet; Dursun, Ahmet; Sezer, Ozlem; Gurkan, Hakan; Erdogan, Murat; Gunduz, C. Nur Semerci; Bisgin, Atil; Ozdemir, Ozturk; Ulgenalp, Ayfer; Percin, E. Ferda; Yildirim, Malik Ejder; Tekes, Selahaddin; Bagis, Haydar; Yuce, Huseyin; Duman, Nilgun; Bozkurt, Gokay; Yararbas, Kanay; Yildirim, Mahmut Selman; Arman, Ahmet; Mihci, Ercan; Eraslan, Serpil; Altintas, Zuhal Mert; Aymelek, Huri Sema; Ruhi, Hatice Ilgin; Tatar, Abdulgani; Ergoren, Mahmut Cerkez; Cetin, G. Ozan; Altunoglu, Umut; Caglayan, Ahmet Okay; Yuksel, Berrin; Ozkul, Yusuf; Saatci, Cetin; Kenanoglu, Sercan; Karasu, Nilgun; Dundar, Bilge; Ozcelik, Firat; Demir, Mikail; Siniksaran, Betul Seyhan; Kulak, Hande; Kiranatlioglu, Kubra; Baysal, Kubra; Kazimli, Ulviyya; Akalin, Hilal; Dundar, Ayca; Boz, Mehmet; Bayram, Arslan; Subasioglu, Asli; Colak, Fatma Kurt; Karaduman, Neslihan; Gunes, Meltem Cerrah; Kandemir, Nefise; Aynekin, Busra; Emekli, Rabia; Sahin, Izem Olcay; Ozdemir, Sevda Yesim; Onal, Muge Gulcihan; Senel, Abdurrahman Soner; Poyrazoglu, Muammer Hakan; Kisaarslan, Ayse Nur Pac; Gursoy, Sebnem; Baskol, Mevlut; Calis, Mustafa; Demir, Huseyin; Zararsiz, Gozde Erturk; Erdogan, Mujgan Ozdemir; Elmas, Muhsin; Solak, Mustafa; Ulu, Memnune Sena; Thahir, Adam; Aydin, Zafer; Atasever, Umut; Sag, Sebnem Ozemri; Aliyeva, Lamiya; Alemdar, Adem; Dogan, Berkcan; Erguzeloglu, Cemre Ornek; Kaya, Niyazi; Ozkinay, Ferda; Cogulu, Ozgur; Durmaz, Asude; Onay, Huseyin; Karaca, Emin; Durmaz, Burak; Aykut, Ayca; Cilingir, Oguz; Aras, Beyhan Durak; Gokalp, Ebru Erzurumluoglu; Arslan, Serap; Temena, Arda; Haziyeva, Konul; Kocagil, Sinem; Bas, Hasan; Susam, Ezgi; Keklikci, Ali Riza; Sarac, Elif; Kocak, Nadir; Nergiz, Suleyman; Terzi, Yunus Kasim; Dincer, Selin Akad; Baskin, Esra Sidika; Genc, Gunes Cakmak; Bahadir, Oguzhan; Sanri, Aslihan; Yigit, Serbulent; Tozkir, Hilmi; Yalcintepe, Sinem; Ozkayin, Nese; Kiraz, Aslihan; Balta, Burhan; Gonen, Gizem Akinci; Kurt, E. Emre; Ceylan, Gulay Gulec; Ceylan, Ahmet Cevdet; Erten, Sukran; Bozdogan, Sevcan Tug; Boga, Ibrahim; Yilmaz, Mustafa; Silan, Fatma; Kocabey, Mehmet; Koc, Altug; Cankaya, Tufan; Bora, Elcin; Bozkaya, Ozlem Giray; Ercal, Derya; Ergun, Mehmet Ali; Ergun, Sezen Guntekin; Duman, Yesim Sidar; Beyazit, Serife Busra; Uzel, Veysiye Hulya; Em, Serda; Cevik, Muhammer Ozgur; Eroz, Recep; Demirtas, Mercan; Firat, Cem Koray; Kabayegit, Zehra Manav; Altan, Mustafa; Mardan, Lamiya; Sayar, Ceyhan; Tumer, Sait; Turkgenc, Burcu; Karakoyun, Hilal Keskin; Tunc, Betul; Kuru, Seda; Zamani, Aysegul; Geckinli, Bilgen Bilge; Ates, Esra Arslan; Clark, Ozden Altiok; Toylu, Asli; Coskun, Mert; Nur, Banu; Bilge, Ilmay; Bayramicli, Oya Uygur; Emmungil, Hakan; Komesli, Zeynep; Zeybel, Mujdat; Gurakan, Figen; Tasdemir, Mehmet; Kebudi, Rejin; Karabulut, Halil Gurhan; Tuncali, Timur; Kutlay, Nuket Yurur; Kahraman, Cigdem Yuce; Onder, Nerin Bahceciler; Beyitler, Ilke; Kavukcu, Salih; Tulay, Pinar; Tosun, Ozgur; Tuncel, Gulten; Mocan, Gamze; Kale, Hamdi; Uyguner, Zehra Oya; Acar, Aynur; Altinay, Mert; Erdem, Levent; TEMEL, ŞEHİME GÜLSÜN; ÖZEMRİ SAĞ, ŞEBNEM; ALIYEVA, LAMIYA; ALEMDAR, ADEM; DOĞAN, BERKCAN; Ergüzeloğlu, Cemre Örnek; Kaya, Niyazi; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Anabilim Dalı.; 0000-0001-8061-8131; AAG-8385-2021; AAH-8355-2021; CCG-4609-2022; HIZ-7332-2022; AAD-5249-2020; EXQ-7887-2022; FEL-0562-2022
    Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.