MEFV c.2040G>T ;(p.M680I)

Variant ID: 16-3293447-C-A

NM_000243.2(MEFV):c.2040G>T;(p.M680I)

This variant was identified in 239 publications

View GRCh38 version.




Publications:


Familial Mediterranean fever with colonic lesions: A case report.

Den Open
Ariga, Hiroyuki H; Kunisaki, Reiko R; Ojima, Takeshi T; Suzuki, Satoshi S; Okada, Kenta K; Kashimura, Junya J
Publication Date: 2024-04

Variant appearance in text: FMF: M680I
PubMed Link: 37206860
Variant Present in the following documents:
  • Main text
  • DEO2-4-e246.pdf
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Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet's Disease and Refractoriness to Treatment.

Journal Of Clinical Medicine
Furuta, Yoki Y; Gushima, Ryosuke R; Naoe, Hideaki H; Honda, Munenori M; Tsuruta, Yuiko Y; Nagaoka, Katsuya K; Watanabe, Takehisa T; Tateyama, Masakuni M; Fujimoto, Nahoko N; Hirata, Shinya S; Miyagawa, Eiko E; Sakata, Komei K; Mizuhashi, Yumiko Y; Iwakura, Mikako M; Murai, Masayuki M; Matsuoka, Masao M; Komohara, Yoshihiro Y; Tanaka, Yasuhito Y
Publication Date: 2023-04-26

Variant appearance in text: FMF: M680I; rs28940580
PubMed Link: 37176572
Variant Present in the following documents:
  • Main text
  • jcm-12-03131.pdf
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Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes
Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E
Publication Date: 2023-04-18

Variant appearance in text: rs28940580
PubMed Link: 37107695
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: M680I
PubMed Link: 36966139
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5745.pdf
View BVdb publication page



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: FMF: M680I
PubMed Link: 36901385
Variant Present in the following documents:
  • Main text
  • ijerph-20-04374.pdf
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Apical fibrosis was the most common incidental pulmonary finding in a familial Mediterranean fever cohort.

Clinical Rheumatology
Şen, Nesrin N; Acer Kasman, Sevtap S; Baysal, Tamer T; Dizman, Rıdvan R; Yılmaz-Öner, Sibel S; Tezcan, Mehmet Engin ME
Publication Date: 2023-02-01

Variant appearance in text: FMF: M680I
PubMed Link: 36725780
Variant Present in the following documents:
  • Main text
  • 10067_2023_Article_6526.pdf
View BVdb publication page



Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.

Iranian Journal Of Medical Sciences
Salehzadeh, Farhad F; Pourfarzi, Farhad F; Molatefi, Rasool R; Davarnia, Behzad B; Shahbazfar, Ehsan E; Ahmadabadi, Farzad F
Publication Date: 2023-01

Variant appearance in text: MEFV: M680I
PubMed Link: 36688196
Variant Present in the following documents:
  • Main text
  • IJMS-48-43.pdf
View BVdb publication page



Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.

Current Issues In Molecular Biology
Zekry, May E ME; Sallam, Al-Aliaa M AM; AbdelHamid, Sherihan G SG; Zarouk, Waheba A WA; El-Bassyouni, Hala T HT; El-Mesallamy, Hala O HO
Publication Date: 2023-01-13

Variant appearance in text: MEFV: M680I
PubMed Link: 36661534
Variant Present in the following documents:
  • Main text
  • cimb-45-00048.pdf
View BVdb publication page



Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.

International Journal Of Rheumatic Diseases
Akcan, Mehmet Berkay MB; Albuz, Burcu B; Ozdemir, Ozturk O; Silan, Fatma F
Publication Date: 2022-12-08

Variant appearance in text: MEFV: M680I
PubMed Link: 36480443
Variant Present in the following documents:
  • Main text
  • APL-9999-0.pdf
View BVdb publication page



Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.

Internal Medicine (Tokyo, Japan)
Nakayama, Tomohiro T; Kozu, Yutaka Y
Publication Date: 2022-11-30

Variant appearance in text: FMF: Met680Ile
PubMed Link: 36450463
Variant Present in the following documents:
  • 1349-7235-62-0643.pdf
View BVdb publication page



Transient and Recurrent Pulmonary Infiltrations Associated with Familial Mediterranean Fever.

Internal Medicine (Tokyo, Japan)
Nishiyama, Miho M; Takahashi, Kiyohide K; Morizumi, Shun S; Takahashi, Yoshinobu Y; Iwamura, Shinichi S; Sumitomo, Kenya K; Nakano, Seiichi S; Shinohara, Tsutomu T
Publication Date: 2022

Variant appearance in text: MEFV: M680I
PubMed Link: 36385047
Variant Present in the following documents:
  • 1349-7235-61-3415.pdf
View BVdb publication page



Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome?

European Journal Of Pediatrics
Otar Yener, Gülçin G; Aktaş, İlke İ; Altıntaş Meşe, Ceren C; Çakan, Mustafa M
Publication Date: 2022-11-15

Variant appearance in text: MEFV: M680I
PubMed Link: 36376520
Variant Present in the following documents:
  • Main text
  • 431_2022_Article_4709.pdf
View BVdb publication page



Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.

Children (Basel, Switzerland)
Omran, Ahmed A; Abdelrahman, Ahmed A; Mohamed, Yasmine Gabr YG; Abdalla, Mohamed Osama MO; Abdel-Hamid, Eman R ER; Elfiky, Samar S
Publication Date: 2022-10-29

Variant appearance in text: MEFV: M680I
PubMed Link: 36360382
Variant Present in the following documents:
  • Main text
  • children-09-01654.pdf
View BVdb publication page



High Respiratory Tract Infection Rate in Patients With Familial Mediterranean Fever.

Cureus
Hangül, Melih M; Akman, Sema S; Koyun, Mustafa M; Akbas, Sadıka H SH
Publication Date: 2022-09

Variant appearance in text: FMF: M680I
PubMed Link: 36321013
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000029700.pdf
View BVdb publication page



Screening for Fabry's disease in a high-risk subpopulation of FMF.

European Journal Of Medical Research
Maller, Tomer T; Ben-Zvi, Ilan I; Lidar, Merav M; Livneh, Avi A
Publication Date: 2022-10-21

Variant appearance in text: MEFV: M680I
PubMed Link: 36271470
Variant Present in the following documents:
  • Main text
  • 40001_2022_Article_846.pdf
View BVdb publication page



Erysipelas-Like Erythema: A Manifestation of Severe Disease Phenotype in Pediatric Patients with Familial Mediterranean Fever.

Turkish Archives Of Pediatrics
Avar-Aydın, Pınar Özge PÖ; Ozcakar, Zeynep Birsin ZB; Aydın, Fatma F; Karakaş, Hatice Dilara HD; Çakar, Nilgün N; Yalçınkaya, Fatoş F
Publication Date: 2022-11

Variant appearance in text: MEFV: M680I
PubMed Link: 35950745
Variant Present in the following documents:
  • Main text
  • tap-57-6-599.pdf
View BVdb publication page



Inflammasome activation: from molecular mechanisms to autoinflammation.

Clinical & Translational Immunology
Lara-Reyna, Samuel S; Caseley, Emily A EA; Topping, Joanne J; Rodrigues, François F; Jimenez Macias, Jorge J; Lawler, Sean E SE; McDermott, Michael F MF
Publication Date: 2022

Variant appearance in text: MEFV: M680I
PubMed Link: 35832835
Variant Present in the following documents:
  • Main text
  • CTI2-11-e1404.pdf
View BVdb publication page



Proteomic Signatures of Monocytes in Hereditary Recurrent Fevers.

Frontiers In Immunology
Penco, Federica F; Petretto, Andrea A; Lavarello, Chiara C; Papa, Riccardo R; Bertoni, Arinna A; Omenetti, Alessia A; Gueli, Ilaria I; Finetti, Martina M; Caorsi, Roberta R; Volpi, Stefano S; Gattorno, Marco M
Publication Date: 2022

Variant appearance in text: FMF: M680I
PubMed Link: 35812440
Variant Present in the following documents:
  • Main text
  • fimmu-13-921253.pdf
View BVdb publication page



Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever.

Journal Of Clinical Immunology
Çakan, Mustafa M; Sözeri, Betül B
Publication Date: 2022-10

Variant appearance in text: MEFV: M680I
PubMed Link: 35804211
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1328.pdf
View BVdb publication page



Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

The Pan African Medical Journal
Missoum, Hakima H; Adadi, Najlae N; Alami, Mohammed M; Toufik, Hamza H; Bouyahya, Abdelhakim A; Laarabi, Fatima-Zahra FZ; Bachir, Fatima F; Maghraoui, Abdellah El AE; Bakri, Youssef Y
Publication Date: 2022

Variant appearance in text: MEFV: M680I
PubMed Link: 35480407
Variant Present in the following documents:
  • PAMJ-41-121.pdf
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The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.

International Journal Of Molecular Sciences
Giat, Eitan E; Ben-Zvi, Ilan I; Lidar, Merav M; Livneh, Avi A
Publication Date: 2022-04-02

Variant appearance in text: MEFV: M680I
PubMed Link: 35409316
Variant Present in the following documents:
  • Main text
  • ijms-23-03956.pdf
View BVdb publication page



The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Frontiers In Genetics
Pace, Nikolai Paul NP; Mintoff, Dillon D; Borg, Isabella I
Publication Date: 2022

Variant appearance in text: MEFV: M680I
PubMed Link: 35401657
Variant Present in the following documents:
  • Main text
  • fgene-13-861241.pdf
View BVdb publication page



A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.

International Journal Of Molecular Sciences
Galozzi, Paola P; Negm, Ola O; Bindoli, Sara S; Tighe, Patrick P; Sfriso, Paolo P; Punzi, Leonardo L
Publication Date: 2022-02-05

Variant appearance in text: MEFV: M680I
PubMed Link: 35163749
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.

International Journal Of Molecular Sciences
Galozzi, Paola P; Negm, Ola O; Bindoli, Sara S; Tighe, Patrick P; Sfriso, Paolo P; Punzi, Leonardo L
Publication Date: 2022-02-05

Variant appearance in text: MEFV: M680I
PubMed Link: 35163749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.

Frontiers In Pediatrics
Öztürk, Kübra K; Coşkuner, Taner T; Baglan, Esra E; Sönmez, Hafize Emine HE; Yener, Gülçin Otar GO; Çakmak, Figen F; Demirkan, Fatma Gül FG; Tanatar, Ayşe A; Karadag, Serife Gül SG; Ozdel, Semanur S; Demir, Ferhat F; Çakan, Mustafa M; Aktay Ayaz, Nuray N; Sözeri, Betül B
Publication Date: 2021

Variant appearance in text: MEFV: M680I
PubMed Link: 35127599
Variant Present in the following documents:
  • Main text
  • fped-09-805919.pdf
View BVdb publication page



Prediction of More Severe MEFV Gene Mutations in Childhood.

Turkish Archives Of Pediatrics
Güneş-Yılmaz, Seviye S; Kasap-Demir, Belde B; Soyaltın, Eren E; Erfidan, Gökçen G; Özdemir-Şimşek, Özgür Ö; Arslansoyu-Çamlar, Seçil S; Alaygut, Demet D; Mutlubaş, Fatma F
Publication Date: 2021-11

Variant appearance in text: FMF: M680I
PubMed Link: 35110061
Variant Present in the following documents:
  • Main text
  • tap-56-6-610.pdf
View BVdb publication page



Global Meta-Analysis on the Association between Behcet Syndrome and Polymorphisms from the HLA Class I (A, B, and C) and Class II (DRB1, DQB1, and DPB1) Genes.

Disease Markers
Capittini, Cristina C; Rebuffi, Chiara C; Lenti, Marco Vincenzo MV; Di Sabatino, Antonio A; Tinelli, Carmine C; Martinetti, Miryam M; De Silvestri, Annalisa A
Publication Date: 2021

Variant appearance in text: MEFV: M680I
PubMed Link: 34938376
Variant Present in the following documents:
  • DM2021-9348697.pdf
View BVdb publication page



A case of aortic dissection in familial Mediterranean fever.

Journal Of Cardiology Cases
Malik, Asmara A; Malik, Jahanzeb J; Javaid, Muhammad M; Khan, Hamid Sharif HS; Mohsin, Muhammad M; Shoaib, Muhammad M
Publication Date: 2021-12

Variant appearance in text: FMF: M680I
PubMed Link: 34917214
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PRY/SPRY domain of pyrin/TRIM20 interacts with β2-microglobulin to promote inflammasome formation.

Scientific Reports
Samukawa, Sei S; Yoshimi, Ryusuke R; Kirino, Yohei Y; Nakajima, Hideaki H
Publication Date: 2021-12-08

Variant appearance in text: MEFV: M680I
PubMed Link: 34880353
Variant Present in the following documents:
  • Main text
View BVdb publication page



Innate-Immunity Genes in Obesity.

Journal Of Personalized Medicine
Mikhailova, Svetlana V SV; Ivanoshchuk, Dinara E DE
Publication Date: 2021-11-14

Variant appearance in text: rs28940580
PubMed Link: 34834553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease.

Gastroenterology Research And Practice
Sahin, S S; Gulec, D D; Günay, S S; Cekic, C C
Publication Date: 2021

Variant appearance in text: FMF: M680I
PubMed Link: 34819953
Variant Present in the following documents:
  • Main text
  • GRP2021-5538150.pdf
View BVdb publication page



Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021.

Pediatric Rheumatology Online Journal
Publication Date: 2021-11-08

Variant appearance in text: FMF: M680I
PubMed Link: 34749725
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Assessment of Selected miRNA Profile in Familial Mediterranean Fever.

Biomed Research International
Kahraman, Cigdem Yuce CY; Egin, Mehmet Ertugrul ME; Tatar, Abdulgani A; Turkez, Hasan H; Mardinoglu, Adil A
Publication Date: 2021

Variant appearance in text: FMF: M680I
PubMed Link: 34692839
Variant Present in the following documents:
  • Main text
  • BMRI2021-6495700.pdf
View BVdb publication page



Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever.

Medicina (Kaunas, Lithuania)
Siligato, Rossella R; Gembillo, Guido G; Calabrese, Vincenzo V; Conti, Giovanni G; Santoro, Domenico D
Publication Date: 2021-10-01

Variant appearance in text: MEFV: Met680Ile
PubMed Link: 34684086
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.

Frontiers In Pediatrics
Yücel, Burcu Bozkaya BB; Aydog, Ozlem O; Nalcacioglu, Hulya H; Yılmaz, Ayşegül A
Publication Date: 2021

Variant appearance in text: MEFV: M680I
PubMed Link: 34568239
Variant Present in the following documents:
  • Main text
  • fped-09-710501.pdf
View BVdb publication page



Deep Dive Into Familial Mediterranean Fever in a Child Without Fever.

Cureus
Jaiswal, Vikash V; Sarfraz, Zouina Z; Paul, Trissa T; Jarullah, Furqan Ahmad FA; Zakhary, Christine C
Publication Date: 2021-08

Variant appearance in text: FMF: M680I
PubMed Link: 34527456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colchicine - an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants.

Pediatric Rheumatology Online Journal
Welzel, Tatjana T; Wildermuth, Anna L AL; Deschner, Norbert N; Benseler, Susanne M SM; Kuemmerle-Deschner, Jasmin B JB
Publication Date: 2021-09-14

Variant appearance in text: FMF: M680I
PubMed Link: 34521435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

Journal Of Clinical Medicine
Arici, Zehra Serap ZS; Romano, Micol M; Piskin, David D; Guzel, Ferhat F; Sahin, Sezgin S; Berard, Roberta A RA; Yilmaz, Mahmut I MI; Demirkaya, Erkan E
Publication Date: 2021-08-10

Variant appearance in text: MEFV: M680I
PubMed Link: 34441808
Variant Present in the following documents:
  • Main text
  • jcm-10-03511.pdf
View BVdb publication page



Cardiovascular Sequelae and Genetics of Familial Mediterranean Fever: A Literature Review.

Pulse (Basel, Switzerland)
Malik, Jahanzeb J; Shabbir, Asma A; Nazir, Atif A
Publication Date: 2021-06

Variant appearance in text: MEFV: M680I
PubMed Link: 34307203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of quality of life and its associations with clinical parameters in pediatric patients with familial Mediterranean fever.

Northern Clinics Of Istanbul
Yildirim, Deniz Gezgin DG; Bakkaloglu, Sevcan Azime SA; Acar, A Sebnem Soysal ASS; Celik, Bulent B; Buyan, Necla N
Publication Date: 2021

Variant appearance in text: MEFV: M680I
PubMed Link: 34222806
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2040G>T
PubMed Link: 34198614
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Frontiers In Immunology
Guzel, Ferhat F; Romano, Micol M; Keles, Erdi E; Piskin, David D; Ozen, Seza S; Poyrazoglu, Hakan H; Kasapcopur, Ozgur O; Demirkaya, Erkan E
Publication Date: 2021

Variant appearance in text: MEFV: M680I; rs28940580
PubMed Link: 34177904
Variant Present in the following documents:
  • Main text
  • fimmu-12-666273.pdf
View BVdb publication page