Publications:

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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: H478Y

PubMed Link: 36966139

Variant Present in the following documents:

• Main text
• 41419_2023_Article_5745.pdf

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Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.

International Journal Of Environmental Research And Public Health

Gallego, Elisa E; Arias-Merino, Greta G; Sánchez-Díaz, Germán G; Villaverde-Hueso, Ana A; Posada de la Paz, Manuel M; Alonso-Ferreira, Verónica V

Publication Date: 2023-02-28

Variant appearance in text: MEFV: H478Y

PubMed Link: 36901385

Variant Present in the following documents:

• ijerph-20-04374.pdf

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Neurological Face of Familial Mediterranean Fever.

Turkish Archives Of Pediatrics

Bektaş, Polat Cengiz PC; Kavas Tufan, Aslı A; Çetin, Nuran N; Yarar, Coşkun C; Carman, Kürşat Bora KB

Publication Date: 2022-09

Variant appearance in text: FMF: H478Y

PubMed Link: 35866324

Variant Present in the following documents:

• Main text
• tap-57-5-511.pdf

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Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Turkish Journal Of Medical Sciences

Sarı, Alper A; Bodakçi, Erdal E; Armağan, Berkan B; Satış, Hasan H; Ataş, Nuh N; Yaşar Bilge, Nazife Şule NŞ; Bilici Salman, Reyhan R; Yardımcı, Gözde Kübra GK; Babaoğlu, Hakan H; Kılıç, Levent L; Öztürk, Mehmet Akif MA; Haznedaroğlu, Şeminur Ş; Göker, Berna B; Kalyoncu, Umut U; Kaşifoğlu, Timuçin T; Tufan, Abdurrahman A

Publication Date: 2021-08-30

Variant appearance in text: MEFV: H478Y

PubMed Link: 33726481

Variant Present in the following documents:

• Main text
• turkjmedsci-51-1695.pdf

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Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Turkish Journal Of Medical Sciences

Tufan, Abdurrahman A; Lachmann, Helen J HJ

Publication Date: 2020-11-03

Variant appearance in text: MEFV: H478Y

PubMed Link: 32806879

Variant Present in the following documents:

• Main text
• turkjmedsci-50-1591.pdf

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: FMF: H478Y

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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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: His478Tyr

PubMed Link: 31456795

Variant Present in the following documents:

• Main text
• fimmu-10-01745.pdf

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Analysis of microRNAs in familial Mediterranean fever.

Plos One

Amarilyo, Gil G; Pillar, Nir N; Ben-Zvi, Ilan I; Weissglas-Volkov, Daphna D; Zalcman, Jonatan J; Harel, Liora L; Livneh, Avi A; Shomron, Noam N

Publication Date: 2018

Variant appearance in text: MEFV: H478Y

PubMed Link: 29787577

Variant Present in the following documents:

• pone.0197829.pdf

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The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family.

Human Genome Variation

Mejtoute, Touhami T; Sayel, Hanane H; El-Akhal, Jamila J; Moufid, Fatima Z FZ; Bouguenouch, Laila L; El Bouchikhi, Ihssane I; Hida, Mustapha M; Couissi, Driss D; Ouldim, Karim K

Publication Date: 2017

Variant appearance in text: MEFV: H478Y

PubMed Link: 28690860

Variant Present in the following documents:

• hgv201723.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: His478Tyr

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

Frontiers In Immunology

Özen, Seza S; Batu, Ezgi Deniz ED; Demir, Selcan S

Publication Date: 2017

Variant appearance in text: FMF: H478Y

PubMed Link: 28386255

Variant Present in the following documents:

• Main text

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The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

Balkan Journal Of Medical Genetics : Bjmg

Battal, F F; Silan, F F; Topaloğlu, N N; Aylanç, H H; Yıldırım, Ş Ş; Köksal Binnetoğlu, F F; Tekin, M M; Kaymaz, N N; Ozdemir, O O

Publication Date: 2016-12-01

Variant appearance in text: FMF: His478Tyr

PubMed Link: 28289585

Variant Present in the following documents:

• Main text
• bjmg-2016-0032.pdf

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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: MEFV: H478Y

PubMed Link: 27270401

Variant Present in the following documents:

• nihms774451.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MEFV: H478Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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In silico analysis of single nucleotide polymorphism (SNP) in human TNF-α gene.

Meta Gene

Dabhi, Brijesh B; Mistry, Kinnari N KN

Publication Date: 2014-12

Variant appearance in text: rs104895105

PubMed Link: 25606441

Variant Present in the following documents:

• Main text
• main.pdf

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The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion

Keklik, Muzaffer M; Unal, Ali A; Sivgin, Serdar S; Kontas, Olgun O; Eroglu, Eray E; Yilmaz, Semih S; Kaynar, Leylagul L; Eser, Bulent B; Cetin, Mustafa M

Publication Date: 2014-09

Variant appearance in text: MEFV: H478Y

PubMed Link: 25332561

Variant Present in the following documents:

• Main text

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A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

Bmc Medical Genetics

Dogan, Hasan H; Akdemir, Fatih F; Tasdemir, Sener S; Atis, Omer O; Diyarbakir, Eda E; Yildirim, Rahsan R; Emet, Mucahit M; Ikbal, Mevlit M

Publication Date: 2014-07-01

Variant appearance in text: MEFV: H478Y

PubMed Link: 24980720

Variant Present in the following documents:

• 1471-2350-15-74.pdf

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The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.

Plos One

Jéru, Isabelle I; Hentgen, Véronique V; Cochet, Emmanuelle E; Duquesnoy, Philippe P; Le Borgne, Gaëlle G; Grimprel, Emmanuel E; Stojanovic, Katia Stankovic KS; Karabina, Sonia S; Grateau, Gilles G; Amselem, Serge S

Publication Date: 2013

Variant appearance in text: MEFV: H478Y

PubMed Link: 23844200

Variant Present in the following documents:

• pone.0068431.pdf

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Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

The Open Rheumatology Journal

Etem, Ebru Onalan EO; Etem, Ebru E; Deveci, Sukriye Derya SD; Erol, Deniz D; Yuce, Huseyin H; Elyas, Halit H

Publication Date: 2010-01-29

Variant appearance in text: MEFV: H478Y

PubMed Link: 20177433

Variant Present in the following documents:

• TORJ-4-1.pdf

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Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Arthritis And Rheumatism

Booty, Matthew G MG; Chae, Jae Jin JJ; Masters, Seth L SL; Remmers, Elaine F EF; Barham, Beverly B; Le, Julie M JM; Barron, Karyl S KS; Holland, Steve M SM; Kastner, Daniel L DL; Aksentijevich, Ivona I

Publication Date: 2009-06

Variant appearance in text: MEFV: H478Y

PubMed Link: 19479870

Variant Present in the following documents:

• Main text

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