dc.contributor.author | Dundar, Munis | |
dc.contributor.author | Fahrioglu, Umut | |
dc.contributor.author | Yildiz, Saliha Handan | |
dc.contributor.author | Bakir-Gungor, Burcu | |
dc.contributor.author | Temel, Sehime Gulsun | |
dc.contributor.author | Akin, Haluk | |
dc.contributor.author | Erdem, Levent | |
dc.date.accessioned | 2022-11-04T19:55:26Z | |
dc.date.available | 2022-11-04T19:55:26Z | |
dc.date.issued | 2022 | |
dc.identifier.issn | 1438-793X | |
dc.identifier.issn | 1438-7948 | |
dc.identifier.uri | https://doi.org/10.1007/s10142-021-00819-3 | |
dc.identifier.uri | http://hdl.handle.net/11446/4525 | |
dc.description.abstract | 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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Springer Heidelberg | en_US |
dc.relation.ispartof | Functional & Integrative Genomics | en_US |
dc.identifier.doi | 10.1007/s10142-021-00819-3 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Familial Mediterranean fever | en_US |
dc.subject | Genotype-phenotype correlations | en_US |
dc.subject | MEFV | en_US |
dc.subject | National Genetics Consortium | en_US |
dc.subject | Familial Mediterranean Fever | en_US |
dc.subject | Protein Asc | en_US |
dc.subject | Kappa-B | en_US |
dc.subject | Mutations | en_US |
dc.subject | Pyrin | en_US |
dc.subject | Autoinflammation | en_US |
dc.subject | Associations | en_US |
dc.subject | Amyloidosis | en_US |
dc.subject | Prevalence | en_US |
dc.subject | Activation | en_US |
dc.title | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium | en_US |
dc.type | article | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.volume | 22 | en_US |
dc.identifier.startpage | 291 | en_US |
dc.identifier.endpage | 315 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.department-temp | [Dundar, Munis; 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; Sarac, Elif; Bahadir, Oguzhan] Erciyes Univ, Fac Med, Dept Med Genet, TR-38039 Kayseri, Turkey; [Fahrioglu, Umut] Near East Univ, Fac Med, Dept Med Biol, CY-99138 Nicosia, Cyprus; [Fahrioglu, Umut; Ergoren, Mahmut Cerkez; Tulay, Pinar; Tuncel, Gulten] Near East Univ, DESAM Inst, CY-99138 Nicosia, Cyprus; [Fahrioglu, Umut] Near East Univ, Genet & Canc Diag Res Ctr, Ctr Excellence, CY-99138 Nicosia, Cyprus; [Yildiz, Saliha Handan; Erdogan, Mujgan Ozdemir; Elmas, Muhsin; Solak, Mustafa] Afyonkarahisar Hlth Sci Univ, Fac Med, Dept Med Genet, TR-03030 Afyon, Turkey; [Bakir-Gungor, Burcu; Thahir, Adam; Aydin, Zafer; Atasever, Umut] Abdullah Gul Univ, Fac Engn & Nat Sci, Dept Comp Engn, TR-38080 Kayseri, Turkey; [Temel, Sehime Gulsun; Sag, Sebnem Ozemri; Aliyeva, Lamiya; Dogan, Berkcan; Kaya, Niyazi] Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16059 Bursa, Turkey; [Temel, | en_US |
dc.authorid | yuksel, berrin/0000-0001-7107-1939 | |
dc.authorid | Dundar, Munis/0000-0003-0969-4611 | |
dc.authorid | Dogan, Berkcan/0000-0001-8061-8131 | |
dc.authorid | Geckinli, Bilge/0000-0003-0317-5677 | |
dc.authorid | Taşdemir, Mehmet/0000-0002-5579-6339 | |
dc.authorid | yuce kahraman, cigdem/0000-0003-1957-9596 | |
dc.authorid | Kebudi, Rejin/0000-0003-4344-8174 | |
dc.identifier.pmid | 35098403 | en_US |
dc.identifier.scopus | 2-s2.0-85124087398 | en_US |
dc.identifier.wos | WOS:000748447100001 | en_US |
dc.authorwosid | yuksel, berrin/AAB-5080-2019 | |
dc.authorwosid | Dundar, Munis/B-3150-2011 | |
dc.authorwosid | Geckinli, Bilge/AGY-3825-2022 | |
dc.authorwosid | Dogan, Berkcan/AAD-5249-2020 | |
dc.authorwosid | Ergoren, Mahmut Cerkez/AAZ-6885-2021 | |
dc.authorwosid | Dincer, Selin Akad/AAC-8356-2020 | |
dc.authorwosid | Taşdemir, Mehmet/AAT-5621-2021 | |
dc.authorscopusid | 57206339176 | |
dc.authorscopusid | 36674876400 | |
dc.authorscopusid | 55956865200 | |
dc.authorscopusid | 25932029800 | |
dc.authorscopusid | 6507885442 | |
dc.authorscopusid | 7003907434 | |
dc.authorscopusid | 6602003464 | |