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Items: 1 to 20 of 99

1.
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases
Saverio La Bella, Armando Di Ludovico, Giulia Di Donato, Ozge Basaran, Seza Ozen, Marco Gattorno, Francesco Chiarelli, Luciana Breda
Front Immunol. 2023; 14: 1341680. Published online 2024 Jan 5. doi: 10.3389/fimmu.2023.1341680
PMCID:
PMC10796709
AbstractArticlePDF–1.5M
2.
Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes
Haleema S. Malik, Flora Magnotti, Nicole A. Loeven, Jose M. Delgado, Arminja N. Kettenbach, Thomas Henry, James B. Bliska
mBio. 2023 Sep-Oct; 14(5): e02066-23. Published online 2023 Oct 3. doi: 10.1128/mbio.02066-23
PMCID:
PMC10653879
AbstractArticlePDF–1.6M
3.
A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes
Qintao Wang, Taijie Jin, Shan Jian, Xu Han, Hongmei Song, Qing Zhou, Xiaomin Yu
JCI Insight. 2023 Oct 9; 8(19): e172975. Published online 2023 Oct 9. doi: 10.1172/jci.insight.172975
PMCID:
PMC10619432
AbstractArticlePDF–1.6M
4.
Post COVID recurrent fever in children with polymorphisms in the innate immunity regulator, pyrin; MEFV gene
Levi Keller, Nathan Rabinovitch
J Allergy Clin Immunol Pract. 2023 Jun; 11(6): 1943–1944. Published online 2023 Mar 9. doi: 10.1016/j.jaip.2023.02.036
PMCID:
PMC10095284
ArticlePDF–259K
5.
Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation
Daria Chirita, Pauline Bronnec, Flora Magnotti, Sarah Dalmon, Amandine Martin, Michel Popoff, Mathieu Gerfaud-Valentin, Pascal Sève, Alexandre Belot, Anne Contis, Agnes Duquesne, Gaetane Nocturne, Irene Lemelle, Sophie Georgin-Lavialle, Guilaine Boursier, Isabelle Touitou, Yvan Jamilloux, Thomas Henry
Cell Death Dis. 2023 Mar; 14(3): 213. Published online 2023 Mar 25. doi: 10.1038/s41419-023-05745-9
PMCID:
PMC10039897
AbstractArticlePDF–3.6M
6.
Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome?
Gülçin Otar Yener, İlke Aktaş, Ceren Altıntaş Meşe, Mustafa Çakan
Eur J Pediatr. 2023; 182(1): 411–417. Published online 2022 Nov 15. doi: 10.1007/s00431-022-04709-z
PMCID:
PMC9663282
AbstractArticlePDF–747K
7.
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism
Flora Magnotti, Daria Chirita, Sarah Dalmon, Amandine Martin, Pauline Bronnec, Jeremy Sousa, Olivier Helynck, Wonyong Lee, Daniel L. Kastner, Jae Jin Chae, Michael F. McDermott, Alexandre Belot, Michel Popoff, Pascal Sève, Sophie Georgin-Lavialle, Hélène Munier-Lehmann, Tu Anh Tran, Ellen De Langhe, Carine Wouters, Yvan Jamilloux, Thomas Henry
Cell Rep. Author manuscript; available in PMC 2022 Nov 2.
Published in final edited form as: Cell Rep. 2022 Oct 11; 41(2): 111472. doi: 10.1016/j.celrep.2022.111472
PMCID:
PMC9626387
AbstractArticlePDF–2.8M
8.
Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis
Hakima Missoum, Najlae Adadi, Mohammed Alami, Hamza Toufik, Abdelhakim Bouyahya, Fatima-Zahra Laarabi, Fatima Bachir, Abdellah El Maghraoui, Youssef Bakri
Pan Afr Med J. 2022; 41: 121. Published online 2022 Feb 11. doi: 10.11604/pamj.2022.41.121.30368
PMCID:
PMC9011912
AbstractArticlePDF–869K
9.
MEFV and NLRP3 Inflammasome Expression Is Attributed to Immature Macrophages and Correlates with Serum Inflammatory Proteins in Crohn´s Disease Patients
Frida Gorreja, Charles Caër, Stephen T. A. Rush, Sophia K. Forsskål, Anetta Härtlova, Maria K. Magnusson, Elinor Bexe Lindskog, Lars G. Börjesson, Mattias Block, Mary Jo Wick
Inflammation. 2022; 45(4): 1631–1650. Published online 2022 Feb 21. doi: 10.1007/s10753-022-01647-8
PMCID:
PMC8860375
AbstractArticlePDF–4.4M
10.
The PRY/SPRY domain of pyrin/TRIM20 interacts with β2-microglobulin to promote inflammasome formation
Sei Samukawa, Ryusuke Yoshimi, Yohei Kirino, Hideaki Nakajima
Sci Rep. 2021; 11: 23613. Published online 2021 Dec 8. doi: 10.1038/s41598-021-03073-6
PMCID:
PMC8654936
AbstractArticlePDF–2.6M
11.
AIM2 forms a complex with Pyrin and ZBP1 to drive PANoptosis and host defense
SangJoon Lee, Rajendra Karki, Yaqiu Wang, Lam Nhat Nguyen, Ravi C. Kalathur, Thirumala-Devi Kanneganti
Nature. Author manuscript; available in PMC 2022 Sep 1.
Published in final edited form as: Nature. 2021 Sep; 597(7876): 415–419. Published online 2021 Sep 1. doi: 10.1038/s41586-021-03875-8
PMCID:
PMC8603942
AbstractArticlePDF–7.4M
12.
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Vahid Ziaee, Hamidreza Mahmoudi, Nima Parvaneh, Bahar Ashjaei, Soroush Shahrokh, Kambiz Kamyab Hesari, Mohammadsadegh Soltani Zangbar, Mehdi Yousefi, Sirous Zeinali, Jouni Uitto
JAMA Dermatol. 2021 Dec; 157(12): 1–6. Published online 2021 Oct 13. doi: 10.1001/jamadermatol.2021.3899
PMCID:
PMC8515259
AbstractArticle
13.
Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings
Abdullah Arpacı, Serdar Doğan, Hazal Fatma Erdoğan, Çiğdem El, Sibel Elmacıoğlu Cura
Mol Biol Rep. 2021; 48(3): 2025–2033. Published online 2021 Mar 18. doi: 10.1007/s11033-020-06040-y
PMCID:
PMC8060170
AbstractArticlePDF–465K
14.
儿童周期性发热-阿弗他口炎-咽炎-淋巴结炎综合征13例临床特点分析
黄 继谦, 叶 晓华, 杨 康康, 上官 瑶瑶, 董 翌玮, 郑 雯洁
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Feb 15; 23(2): 143–147. Chinese. doi: 10.7499/j.issn.1008-8830.2008097
PMCID:
PMC7921540
AbstractArticlePDF–1.1M
15.
Recurrent synovitis of hip and MEFV gene related arthritis in children
Farhad Salehzadeh, Mehrdad Mirzarahimi
Pediatr Rheumatol Online J. 2020; 18: 63. Published online 2020 Aug 10. doi: 10.1186/s12969-020-00456-3
PMCID:
PMC7418299
AbstractArticlePDF–494K
16.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Yong Hwan Park, Elaine F. Remmers, Wonyong Lee, Amanda K. Ombrello, Lawton K. Chung, Zhao Shilei, Deborah L. Stone, Maya I. Ivanov, Nicole A. Loeven, Karyl S. Barron, Patrycja Hoffmann, Michele Nehrebecky, Yeliz Z. Akkaya-Ulum, Erdal Sag, Banu Balci-Peynircioglu, Ivona Aksentijevich, Ahmet Gül, Charles N. Rotimi, Hua Chen, James B. Bliska, Seza Ozen, Daniel L. Kastner, Daniel Shriner, Jae Jin Chae
Nat Immunol. Author manuscript; available in PMC 2020 Dec 29.
Published in final edited form as: Nat Immunol. 2020 Aug; 21(8): 857–867. Published online 2020 Jun 29. doi: 10.1038/s41590-020-0705-6
PMCID:
PMC7381377
AbstractArticlePDF–4.3M
17.
Gene–Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever
Iris Stoler, Judith Freytag, Banu Orak, Nadine Unterwalder, Stephan Henning, Katrin Heim, Horst von Bernuth, Renate Krüger, Stefan Winkler, Patience Eschenhagen, Eva Seipelt, Marcus A. Mall, Dirk Foell, Christoph Kessel, Helmut Wittkowski, Tilmann Kallinich
Front Immunol. 2020; 11: 716. Published online 2020 Jun 11. doi: 10.3389/fimmu.2020.00716
PMCID:
PMC7325897
AbstractArticlePDF–958K
18.
Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants
Elisabeth Mulazzani, Danny Wagner, Joachim Havla, Miriam Schlüter, Ingrid Meinl, Lisa-Ann Gerdes, Tania Kümpfel
J Neuroinflammation. 2020; 17: 196. Published online 2020 Jun 20. doi: 10.1186/s12974-020-01867-5
PMCID:
PMC7306142
AbstractArticlePDF–1.2M
19.
The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis
Linqing Zhong, Wei Wang, Ji Li, Mingsheng Ma, Lijuan Gou, Changyan Wang, Zhongxun Yu, Tiannan Zhang, Yanqing Dong, Qijiao Wei, Hongmei Song
Pediatr Rheumatol Online J. 2020; 18: 38. Published online 2020 May 12. doi: 10.1186/s12969-020-00427-8
PMCID:
PMC7218505
AbstractArticlePDF–1009K
20.
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
N. Şule YAŞAR BİLGE, İsmail SARI, Dilek SOLMAZ, Soner ŞENEL, Hakan EMMUNGİL, Levent KILIÇ, Sibel YILMAZ ÖNER, Fatih YILDIZ, Sedat YILMAZ, Duygu ERSÖZLU BOZKIRLI, Müge AYDIN TUFAN, Sema YILMAZ, Veli YAZISIZ, Yavuz PEHLİVAN, Cemal BES, Gözde YILDIRIM ÇETİN, Şükran ERTEN, Emel GÖNÜLLÜ, Fezan ŞAHİN, Servet AKAR, Kenan AKSU, Umut KALYONCU, Haner DİRESKENELİ, Eren ERKEN, Bünyamin KISACIK, Mehmet SAYARLIOGLU, Muhammed ÇINAR, Timuçin KAŞİFOĞLU
Turk J Med Sci. 2019; 49(2): 472–477. Published online 2019 Apr 18. doi: 10.3906/sag-1809-100
PMCID:
PMC7018361
AbstractArticlePDF–1.3M

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