Publications:

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The role of pyroptosis in inflammatory diseases.

Frontiers In Cell And Developmental Biology

Chai, Rong R; Li, Ying Y; Shui, Linna L; Ni, Longxing L; Zhang, Ansheng A

Publication Date: 2023

Variant appearance in text: MEFV: S242R

PubMed Link: 37250902

Variant Present in the following documents:

• Main text
• fcell-11-1173235.pdf

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Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.

Cell Death & Disease

Chirita, Daria D; Bronnec, Pauline P; Magnotti, Flora F; Dalmon, Sarah S; Martin, Amandine A; Popoff, Michel M; Gerfaud-Valentin, Mathieu M; Sève, Pascal P; Belot, Alexandre A; Contis, Anne A; Duquesne, Agnes A; Nocturne, Gaetane G; Lemelle, Irene I; Georgin-Lavialle, Sophie S; Boursier, Guilaine G; Touitou, Isabelle I; Jamilloux, Yvan Y; Henry, Thomas T

Publication Date: 2023-03-25

Variant appearance in text: MEFV: S242R

PubMed Link: 36966139

Variant Present in the following documents:

• Main text
• 41419_2023_Article_5745.pdf

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Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Pediatric Rheumatology Online Journal

Li, Yandie Y; Yu, Meiping M; Lu, Meiping M

Publication Date: 2022-10-17

Variant appearance in text: FMF: S242R

PubMed Link: 36253853

Variant Present in the following documents:

• Main text
• 12969_2022_Article_728.pdf

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Frequencies of the MEFV Gene Mutations in Azerbaijan.

Balkan Journal Of Medical Genetics : Bjmg

Huseynova, L S LS; Mammadova, S N SN; Aliyeva, Kaa K

Publication Date: 2021-11

Variant appearance in text: MEFV: S242R

PubMed Link: 36249512

Variant Present in the following documents:

• Main text
• bjmg-24-033.pdf

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Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.

Cell Reports

Magnotti, Flora F; Chirita, Daria D; Dalmon, Sarah S; Martin, Amandine A; Bronnec, Pauline P; Sousa, Jeremy J; Helynck, Olivier O; Lee, Wonyong W; Kastner, Daniel L DL; Chae, Jae Jin JJ; McDermott, Michael F MF; Belot, Alexandre A; Popoff, Michel M; Sève, Pascal P; Georgin-Lavialle, Sophie S; Munier-Lehmann, Hélène H; Tran, Tu Anh TA; De Langhe, Ellen E; Wouters, Carine C; Jamilloux, Yvan Y; Henry, Thomas T

Publication Date: 2022-10-11

Variant appearance in text: FMF: S242R

PubMed Link: 36223753

Variant Present in the following documents:

• Main text
• NIHMS1843395-supplement-1.pdf
• nihms-1843395.pdf

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Pyroptosis in development, inflammation and disease.

Frontiers In Immunology

Pan, Yuhong Y; Cai, Wenjun W; Huang, Juan J; Cheng, Anchun A; Wang, Mingshu M; Yin, Zhongqiong Z; Jia, Renyong R

Publication Date: 2022

Variant appearance in text: MEFV: S242R

PubMed Link: 36189207

Variant Present in the following documents:

• Main text
• fimmu-13-991044.pdf

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Fas/CD95 Signaling Pathway in Damage-Associated Molecular Pattern (DAMP)-Sensing Receptors.

Cells

Galli, Gael G; Vacher, Pierre P; Ryffel, Bernhard B; Blanco, Patrick P; Legembre, Patrick P

Publication Date: 2022-04-24

Variant appearance in text: MEFV: S242R

PubMed Link: 35563744

Variant Present in the following documents:

• Main text
• cells-11-01438.pdf

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Molecular biology of autoinflammatory diseases.

Inflammation And Regeneration

Masumoto, Junya J; Zhou, Wei W; Morikawa, Shinnosuke S; Hosokawa, Sho S; Taguchi, Haruka H; Yamamoto, Toshihiro T; Kurata, Mie M; Kaneko, Naoe N

Publication Date: 2021-10-11

Variant appearance in text: MEFV: S242R

PubMed Link: 34635190

Variant Present in the following documents:

• Main text
• 41232_2021_Article_181.pdf

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Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

International Journal Of Molecular Sciences

Di Donato, Giulia G; d'Angelo, Debora Mariarita DM; Breda, Luciana L; Chiarelli, Francesco F

Publication Date: 2021-06-14

Variant appearance in text: MEFV: 726C>G

PubMed Link: 34198614

Variant Present in the following documents:

• Main text
• ijms-22-06360.pdf

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Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Journal Of Translational Autoimmunity

Marino, Achille A; Tirelli, Francesca F; Giani, Teresa T; Cimaz, Rolando R

Publication Date: 2020

Variant appearance in text: MEFV: S242R

PubMed Link: 32743516

Variant Present in the following documents:

• Main text
• main.pdf

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The pyrin inflammasome and the Yersinia effector interaction.

Immunological Reviews

Malik, Haleema S HS; Bliska, James B JB

Publication Date: 2020-09

Variant appearance in text: MEFV: S242R

PubMed Link: 32721043

Variant Present in the following documents:

• Main text

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The pyrin inflammasome in host-microbe interactions.

Current Opinion In Microbiology

Loeven, Nicole A NA; Medici, Natasha P NP; Bliska, James B JB

Publication Date: 2020-04

Variant appearance in text: FMF: S242R

PubMed Link: 32120337

Variant Present in the following documents:

• Main text

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First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis.

Rheumatology (Oxford, England)

Kiyota, Masatomo M; Oya, Masafumi M; Ayano, Masahiro M; Niiro, Hiroaki H; Iwasaki, Takeshi T; Fujiwara, Minako M; Oda, Yoshinao Y; Fujimoto, Kyoko K; Ida, Hiroaki H

Publication Date: 2020-09-01

Variant appearance in text: MEFV: 726C>G

PubMed Link: 31998953

Variant Present in the following documents:

• Main text
• keaa005.pdf

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: MEFV: 726C>G; Ser242Arg

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

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Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.

Rheumatology (Oxford, England)

Kacar, Mark M; Pathak, Shelly S; Savic, Sinisa S

Publication Date: 2019-11-01

Variant appearance in text: MEFV: S242R

PubMed Link: 31769858

Variant Present in the following documents:

• Main text

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Current and future advances in genetic testing in systemic autoinflammatory diseases.

Rheumatology (Oxford, England)

Schnappauf, Oskar O; Aksentijevich, Ivona I

Publication Date: 2019-11-01

Variant appearance in text: MEFV: S242R

PubMed Link: 31769854

Variant Present in the following documents:

• Main text

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Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.

Frontiers In Immunology

Figueras-Nart, Ignasi I; Mascaró, José M JM; Solanich, Xavier X; Hernández-Rodríguez, José J

Publication Date: 2019

Variant appearance in text: FMF: S242R

PubMed Link: 31736939

Variant Present in the following documents:

• Main text
• fimmu-10-02448.pdf

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Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.

Embo Molecular Medicine

Magnotti, Flora F; Lefeuvre, Lucie L; Benezech, Sarah S; Malsot, Tiphaine T; Waeckel, Louis L; Martin, Amandine A; Kerever, Sébastien S; Chirita, Daria D; Desjonqueres, Marine M; Duquesne, Agnès A; Gerfaud-Valentin, Mathieu M; Laurent, Audrey A; Sève, Pascal P; Popoff, Michel-Robert MR; Walzer, Thierry T; Belot, Alexandre A; Jamilloux, Yvan Y; Henry, Thomas T

Publication Date: 2019-11-07

Variant appearance in text: FMF: S242R

PubMed Link: 31589380

Variant Present in the following documents:

• Main text

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The Pyrin Inflammasome in Health and Disease.

Frontiers In Immunology

Schnappauf, Oskar O; Chae, Jae Jin JJ; Kastner, Daniel L DL; Aksentijevich, Ivona I

Publication Date: 2019

Variant appearance in text: MEFV: Ser242Arg

PubMed Link: 31456795

Variant Present in the following documents:

• Main text
• fimmu-10-01745.pdf

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Complexity of familial Mediterranean fever genetics.

European Journal Of Rheumatology

İlgen, Ufuk U

Publication Date: 2020-01

Variant appearance in text: FMF: S242R

PubMed Link: 31329540

Variant Present in the following documents:

• Main text

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Mechanisms of Inflammation in Neutrophil-Mediated Skin Diseases.

Frontiers In Immunology

Marzano, Angelo V AV; Ortega-Loayza, Alex G AG; Heath, Michael M; Morse, Daniel D; Genovese, Giovanni G; Cugno, Massimo M

Publication Date: 2019

Variant appearance in text: MEFV: S242R

PubMed Link: 31139187

Variant Present in the following documents:

• Main text
• fimmu-10-01059.pdf

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Dynamics of Inflammatory Response in Autoinflammatory Disorders: Autonomous and Hyperinflammatory States.

Frontiers In Immunology

Gül, Ahmet A

Publication Date: 2018

Variant appearance in text: FMF: Ser242Arg

PubMed Link: 30386349

Variant Present in the following documents:

• Main text
• fimmu-09-02422.pdf

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Autoinflammation due to homozygous S208 MEFV mutation.

Annals Of The Rheumatic Diseases

Hong, Ying Y; Standing, Ariane S I ASI; Nanthapisal, Sira S; Sebire, Neil N; Jolles, Stephen S; Omoyinmi, Ebun E; Verstegen, Ruud Hj RH; Brogan, Paul A PA; Eleftheriou, Despina D

Publication Date: 2019-04

Variant appearance in text: MEFV: S242R

PubMed Link: 30355575

Variant Present in the following documents:

• Main text

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Intracellular Antiviral Immunity.

Advances In Virus Research

Bottermann, Maria M; James, Leo C LC

Publication Date: 2018

Variant appearance in text: FMF: S242R

PubMed Link: 29551141

Variant Present in the following documents:

• Main text

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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.

Annals Of The Rheumatic Diseases

Moghaddas, Fiona F; Llamas, Rafael R; De Nardo, Dominic D; Martinez-Banaclocha, Helios H; Martinez-Garcia, Juan J JJ; Mesa-Del-Castillo, Pablo P; Baker, Paul J PJ; Gargallo, Vanessa V; Mensa-Vilaro, Anna A; Canna, Scott S; Wicks, Ian P IP; Pelegrin, Pablo P; Arostegui, Juan I JI; Masters, Seth L SL

Publication Date: 2017-12

Variant appearance in text: MEFV: S242R

PubMed Link: 28835462

Variant Present in the following documents:

• Main text

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Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Rheumatic Diseases Clinics Of North America

Oda, Hirotsugu H; Kastner, Daniel L DL

Publication Date: 2017-08

Variant appearance in text: FMF: Ser242Arg

PubMed Link: 28711137

Variant Present in the following documents:

• Main text

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Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.

Frontiers In Pharmacology

Fenini, Gabriele G; Contassot, Emmanuel E; French, Lars E LE

Publication Date: 2017

Variant appearance in text: FMF: S242R

PubMed Link: 28588486

Variant Present in the following documents:

• Main text
• fphar-08-00278.pdf

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: MEFV: S242R

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

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The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

Frontiers In Immunology

de Torre-Minguela, Carlos C; Mesa Del Castillo, Pablo P; Pelegrín, Pablo P

Publication Date: 2017

Variant appearance in text: FMF: S242R

PubMed Link: 28191008

Variant Present in the following documents:

• Main text
• fimmu-08-00043.pdf

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What do we know about the inflammasome in humans?

Brain Pathology (Zurich, Switzerland)

Amin, Jay J; Boche, Delphine D; Rakic, Sonja S

Publication Date: 2017-03

Variant appearance in text: MEFV: S242R

PubMed Link: 27997042

Variant Present in the following documents:

• Main text

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Lessons from characterization and treatment of the autoinflammatory syndromes.

Current Opinion In Rheumatology

Aksentijevich, Ivona I; McDermott, Michael F MF

Publication Date: 2017-03

Variant appearance in text: FMF: S242R

PubMed Link: 27906774

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MEFV: S242R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Site-specific phosphorylation and microtubule dynamics control Pyrin inflammasome activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gao, Wenqing W; Yang, Jieling J; Liu, Wang W; Wang, Yupeng Y; Shao, Feng F

Publication Date: 2016-08-16

Variant appearance in text: FMF: S242R

PubMed Link: 27482109

Variant Present in the following documents:

• Main text

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A dRAStic RHOAdblock of Pyrin inflammasome activation.

Nature Immunology

Dorfleutner, Andrea A; Stehlik, Christian C

Publication Date: 2016-07-19

Variant appearance in text: FMF: Ser242Arg

PubMed Link: 27434003

Variant Present in the following documents:

• Main text

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Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.

Nature Immunology

Park, Yong Hwan YH; Wood, Geryl G; Kastner, Daniel L DL; Chae, Jae Jin JJ

Publication Date: 2016-08

Variant appearance in text: FMF: Ser242Arg

PubMed Link: 27270401

Variant Present in the following documents:

• Main text
• nihms774451.pdf

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Autoinflammatory Skin Disorders: The Inflammasomme in Focus.

Trends In Molecular Medicine

Gurung, Prajwal P; Kanneganti, Thirumala-Devi TD

Publication Date: 2016-07

Variant appearance in text: FMF: S242R

PubMed Link: 27267764

Variant Present in the following documents:

• Main text

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S100A12 is a novel molecular marker differentiating systemic-onset juvenile idiopathic arthritis from other causes of fever of unknown origin.

Arthritis And Rheumatism

Wittkowski, Helmut H; Frosch, Michael M; Wulffraat, Nico N; Goldbach-Mansky, Raphaela R; Kallinich, Tilmann T; Kuemmerle-Deschner, Jasmin J; Frühwald, Michael C MC; Dassmann, Sandra S; Pham, Tuyet-Hang TH; Roth, Johannes J; Foell, Dirk D

Publication Date: 2008-12

Variant appearance in text: MEFV: S242R

PubMed Link: 19035478

Variant Present in the following documents:

• Main text

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