Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models

Autor: Gokce Celikyapi Erdem, Sule Erdemir, Irem Abaci, Asli K. Kirectepe Aydin, Elif Everest, Eda Tahir Turanli

Publikováno v: Genetics and Molecular Biology, Vol 40, Iss 3, Pp 688-697 (2017)

Abstract The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island,

Externí odkaz: https://doaj.org/article/9806ab04d25b4e79b525488b748e380b

A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.

Autor: Parlar K; Yeditepe University School of Medicine, Istanbul, Turkey., Tahir Turanli E; Faculty of Engineering and Natural Sciences, Molecular Biology and Genetics, Acıbadem University, Istanbul, Turkey.; Graduate School of Natural and Applied Science, Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey., Nuhoglu Kantarci E; Division of Hematology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Hacioglu A; Department of Endocrinology, School of Medicine, Erciyes University, Kayseri, Turkey., Kirectepe Aydin A; Medical Faculty, Department of Biomedical Science, Nisantasi University, Istanbul, Turkey., Ayla AY; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Voyvoda U; Graduate School of Natural and Applied Science, Department of Molecular and Translational Biomedicine, Acibadem University, Istanbul, Turkey., Ozdogan H; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Ugurlu S; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Publikováno v: Modern rheumatology case reports [Mod Rheumatol Case Rep] 2023 Dec 29; Vol. 8 (1), pp. 121-124.

A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.

Autor: Parlar, Kerem, Tahir Turanli, Eda, Nuhoglu Kantarci, Eda, Hacioglu, Aysa, Kirectepe Aydin, Asli, Ayla, Ali Yagiz, Voyvoda, Umut, Ozdogan, Huri, Ugurlu, Serdal

Publikováno v: Modern Rheumatology Case Reports; Jan2024, Vol. 8 Issue 1, p121-124, 3p

Role of genetics in pediatric rheumatology

Autor: Elif Everest, Ayse Balamir, Eda Tahir Turanli, Ozgur Kasapcopur, Asli Kirectepe Aydin

Publikováno v: Türk Pediatri Arşivi. 52:113-121

Pediatric rheumatology includes autoinflammatory monogenic diseases, autoinflammatory multifactorial diseases with complex inheritance, and diseases with uncertain clinical diagnosis or undefined conditions, even though they show signs of autoinflamm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c35b2d9e9ef948a2788352008ca823
https://doi.org/10.5152/turkpediatriars.2017.4953

Correction to: Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study

Autor: Merve Özkilinç Önen, Ozan Ozkaya, Oguz Soylemezoglu, Kubra Ozturk, Sezgin Sahin, Nuray Aktay Ayaz, Ayse Balamir, Seyit Zor, Deniz Gezgin Yıldırım, Huri Ozdogan, Selçuk Yüksel, Asli Kirectepe Aydin, Abdurrahman Tufan, Eda Tahir Turanli, Serdal Ugurlu, Rukiye Eker Omeroglu, Emire Seyahi, Amra Adrovic, Kenan Barut, Selcuk Dasdemir, Mustafa Çakan, Ilker Karacan, Ozgur Kasapcopur, Betül Sözeri, Elif Everest

The second affiliation of the corresponding author Eda Tahir Turanlı was incorrectly published as İstanbul Medeniyet University instead of Istanbul Technical University.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f269738c6412c107db8fb2b0de60c9
https://avesis.gazi.edu.tr/publication/details/73a0c837-8d23-4a35-880b-003aa90f6137/oai