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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
MEFV
gene.
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999 Apr;64(4):949-62.
PubMed citation
Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol. 2003 Sep;18(9):853-9. Epub 2003 Jun 27. Review.
PubMed citation
Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9982-7. Epub 2006 Jun 19.
PubMed citation
Delibaş A, Oner A, Balci B, Demircin G, Bulbul M, Bek K, Erdoğan O, Baysun S, Yilmaz E. Genetic risk factors of amyloidogenesis in familial Mediterranean fever. Am J Nephrol. 2005 Sep-Oct;25(5):434-40. Epub 2005 Aug 23.
PubMed citation
Entrez
Gene
Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003 Apr;48(4):1149-55.
PubMed citation
Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, Kastner DL. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood. 2001 Aug 1;98(3):851-9.
PubMed citation
Medlej-Hashim M, Delague V, Chouery E, Salem N, Rawashdeh M, Lefranc G, Loiselet J, Mégarbané A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet. 2004 Feb 10;5:4.
PubMed citation
Mikula M, Buller A, Sun W, Strom CM. Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. Genet Med. 2008 May;10(5):349-52. doi: 10.1097/GIM.0b013e3181723cc8.
PubMed citation
Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008 Jun;29(6):803-8. doi: 10.1002/humu.20720.
PubMed citation
Notarnicola C, Didelot MN, Koné-Paut I, Seguret F, Demaille J, Touitou I. Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever. Arthritis Rheum. 2002 Oct;46(10):2785-93.
PubMed citation
OMIM:
FAMILIAL MEDITERRANEAN FEVER
GENE
Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, Grütter C, Grütter M, Tschopp J. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ. 2007 Aug;14(8):1457-66. Epub 2007 Apr 13.
PubMed citation
Rabinovitch E, Harats D, Yaron P, Luvish T, Lidar M, Kedem R, Shaish A, Ben-Dov I, Livneh A. Familial Mediterranean fever gene and protection against asthma. Ann Allergy Asthma Immunol. 2007 Dec;99(6):517-21. doi: 10.1016/S1081-1206(10)60380-8.
PubMed citation
Ross JJ. Goats, germs, and fever: Are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis? Med Hypotheses. 2007;68(3):499-501. Epub 2006 Sep 26.
PubMed citation
Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, Danon Y, Halpern GJ, Lifshitz Y, Shohat M. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet. 2000 Apr;8(4):307-10.
PubMed citation
Telatar M, Grody WW. Molecular genetic testing for familial Mediterranean fever. Mol Genet Metab. 2000 Sep-Oct;71(1-2):256-60. Review.
PubMed citation
Yepiskoposyan L, Harutyunyan A. Population genetics of familial Mediterranean fever: a review. Eur J Hum Genet. 2007 Sep;15(9):911-6. Epub 2007 Jun 13. Review.
PubMed citation
Yu JW, Fernandes-Alnemri T, Datta P, Wu J, Juliana C, Solorzano L, McCormick M, Zhang Z, Alnemri ES. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007 Oct 26;28(2):214-27.
PubMed citation
Reviewed: September 2008
Published: May 13, 2013
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