"Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever."
Aksentijevich I. , Centola M. , Deng Z. , Sood R. , Balow J.E. Jr. , Wood G. , Zaks N. , Mansfield E. , Chen X. , Eisenberg S. , Vedula A. , Shafran N. , Raben N. , Pras E. , Pras M. , Kastner D.L. , Blake T. , Baxevanis A.D. , Robbins C. , Krizman D. , Collins F.S. , Liu P.P. , Chen X. , Shohat M. , Hamon M. , Kahan T. , Cercek A. , Rotter J.I. , Fischel-Ghodsian N. , Richards N. , Shelton D.A. , Gumucio D. , Yokoyama Y. , Mangelsdorf M. , Orsborn A. , Richards R.I. , Ricke D.O. , Buckingham J.M. , Moyzis R.K. , Deaven L.L. , Doggett N.A. more...
Cell90:797-807(1997) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus."
Papin S. , Duquesnoy P. , Cazeneuve C. , Pantel J. , Coppey-Moisan M. , Dargemont C. , Amselem S.
Hum. Mol. Genet.9:3001-3009(2000) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A candidate gene for familial Mediterranean fever."
Bernot A. , Clepet C. , Dasilva C. , Devaud C. , Petit J.-L. , Caloustian C. , Cruaud C. , Samson D. , Pulcini F. , Weissenbach J. , Heilig R. , Notanicola C. , Domingo C. , Rozenbaum M. , Benchetrit E. , Topaloglu R. , Dewalle M. , Dross C. , Hadjari P. , Dupont M. , Demaille J.G. , Touitou I. , Smaoui N. , Nedelec B. , Mery J.-P. , Chaabouni H. , Delpech M. , Grateau G. more...
Nat. Genet.17:25-31(1997) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease."
Timmann C. , Muntau B. , Kuhne K. , Gelhaus A. , Horstmann R.D.
Mutat. Res.479:235-239(2001) [PubMed] [Europe PMC] [Abstract]

"The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators."
Centola M. , Wood G. , Frucht D.M. , Galon J. , Aringer M. , Farrell C. , Kingma D.W. , Horwitz M.E. , Mansfield E. , Holland S.M. , O'Shea J.J. , Rosenberg H.F. , Malech H.L. , Kastner D.L.
Blood95:3223-3231(2000) [PubMed] [Europe PMC] [Abstract]

"Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin."
Tidow N. , Chen X. , Muller C. , Kawano S. , Gombart A.F. , Fischel-Ghodsian N. , Koeffler H.P.
Blood95:1451-1455(2000) [PubMed] [Europe PMC] [Abstract]

"The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments."
Mansfield E. , Chae J.J. , Komarow H.D. , Brotz T.M. , Frucht D.M. , Aksentijevich I. , Kastner D.L.
Blood98:851-859(2001) [PubMed] [Europe PMC] [Abstract]

"Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis."
Richards N. , Schaner P. , Diaz A. , Stuckey J. , Shelden E. , Wadhwa A. , Gumucio D.L.
J. Biol. Chem.276:39320-39329(2001) [PubMed] [Europe PMC] [Abstract]

"Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway."
Shoham N.G. , Centola M. , Mansfield E. , Hull K.M. , Wood G. , Wise C.A. , Kastner D.L.
Proc. Natl. Acad. Sci. U.S.A.100:13501-13506(2003) [PubMed] [Europe PMC] [Abstract]

"Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever."
Notarnicola C. , Didelot M.-N. , Kone-Paut I. , Seguret F. , Demaille J. , Touitou I.
Arthritis Rheum.46:2785-2793(2002) [PubMed] [Europe PMC] [Abstract]

"Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization."
Yu J.W. , Wu J. , Zhang Z. , Datta P. , Ibrahimi I. , Taniguchi S. , Sagara J. , Fernandes-Alnemri T. , Alnemri E.S.
Cell Death Differ.13:236-249(2006) [PubMed] [Europe PMC] [Abstract]

"The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production."
Chae J.J. , Wood G. , Masters S.L. , Richard K. , Park G. , Smith B.J. , Kastner D.L.
Proc. Natl. Acad. Sci. U.S.A.103:9982-9987(2006) [PubMed] [Europe PMC] [Abstract]

"The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing."
Papin S. , Cuenin S. , Agostini L. , Martinon F. , Werner S. , Beer H.D. , Grutter C. , Grutter M. , Tschopp J.
Cell Death Differ.14:1457-1466(2007) [PubMed] [Europe PMC] [Abstract]

"Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants."
Yu J.W. , Fernandes-Alnemri T. , Datta P. , Wu J. , Juliana C. , Solorzano L. , McCormick M. , Zhang Z. , Alnemri E.S.
Mol. Cell28:214-227(2007) [PubMed] [Europe PMC] [Abstract]

"The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment."
Chae J.J. , Wood G. , Richard K. , Jaffe H. , Colburn N.T. , Masters S.L. , Gumucio D.L. , Shoham N.G. , Kastner D.L.
Blood112:1794-1803(2008) [PubMed] [Europe PMC] [Abstract]

"Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin."
Waite A.L. , Schaner P. , Hu C. , Richards N. , Balci-Peynircioglu B. , Hong A. , Fox M. , Gumucio D.L.
Exp. Biol. Med. (Maywood)234:40-52(2009) [PubMed] [Europe PMC] [Abstract]

"Pyrin Modulates the Intracellular Distribution of PSTPIP1."
Waite A.L. , Schaner P. , Richards N. , Balci-Peynircioglu B. , Masters S.L. , Brydges S.D. , Fox M. , Hong A. , Yilmaz E. , Kastner D.L. , Reinherz E.L. , Gumucio D.L.
PLoS ONE4:E6147-E6147(2009) [PubMed] [Europe PMC] [Abstract]

"The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever."
Weinert C. , Grutter C. , Roschitzki-Voser H. , Mittl P.R. , Grutter M.G.
J. Mol. Biol.394:226-236(2009) [PubMed] [Europe PMC] [Abstract]

"Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)."
Bernot A. , da Silva C. , Petit J.-L. , Cruaud C. , Caloustian C. , Castet V. , Ahmed-Arab M. , Dross C. , Dupont M. , Cattan D. , Smaoui N. , Dode C. , Pecheux C. , Nedelec B. , Medaxian J. , Rozenbaum M. , Rosner I. , Delpech M. , Grateau G. , Demaille J. , Weissenbach J. , Touitou I. more...
Hum. Mol. Genet.7:1317-1325(1998) [PubMed] [Europe PMC] [Abstract]

"Pyrin/marenostrin mutations in familial Mediterranean fever."
Booth D.R. , Gillmore J.D. , Booth S.E. , Pepys M.B. , Hawkins P.N.
QJM91:603-606(1998) [PubMed] [Europe PMC] [Abstract]

"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."
Aksentijevich I. , Torosyan Y. , Samuels J. , Centola M. , Pras E. , Chae J.J. , Oddoux C. , Wood G. , Azzaro M.P. , Palumbo G. , Giustolisi R. , Pras M. , Ostrer H. , Kastner D.L.
Am. J. Hum. Genet.64:949-962(1999) [PubMed] [Europe PMC] [Abstract]

"MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications."
Cazeneuve C. , Sarkisian T. , Pecheux C. , Dervichian M. , Nedelec B. , Reinert P. , Ayvazyan A. , Kouyoumdjian J.-C. , Ajrapetyan H. , Delpech M. , Goossens M. , Dode C. , Grateau G. , Amselem S.
Am. J. Hum. Genet.65:88-97(1999) [PubMed] [Europe PMC] [Abstract]

"Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis."
Shohat M. , Magal N. , Shohat T. , Chen X. , Dagan T. , Mimouni A. , Danon Y. , Lotan R. , Ogur G. , Sirin A. , Schlezinger M. , Halpern G.J. , Schwabe A. , Kastner D. , Rotter J.I. , Fischel-Ghodsian N.
Eur. J. Hum. Genet.7:287-292(1999) [PubMed] [Europe PMC] [Abstract]

"MEFV mutations in Turkish patients suffering from familial Mediterranean fever."
Akar N. , Misiroglu M. , Yalcinkaya F. , Akar E. , Cakar N. , Tumer N. , Akcakus M. , Tastan H. , Matzner Y.
Hum. Mutat.15:118-119(2000) [PubMed] [Europe PMC] [Abstract]

"The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?"
Ben-Chetrit E. , Lerer I. , Malamud E. , Domingo C. , Abeliovich D.
Hum. Mutat.15:385-386(2000) [PubMed] [Europe PMC] [Abstract]

"Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity."
Domingo C. , Touitou I. , Bayou A. , Ozen S. , Notarnicola C. , Dewalle M. , Demaille J. , Buades R. , Sayadat C. , Levy M. , Ben-Chetrit E.
Eur. J. Hum. Genet.8:242-246(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever."
Dode C. , Pecheux C. , Cazeneuve C. , Cattan D. , Dervichian M. , Goossens M. , Delpech M. , Amselem S. , Grateau G.
Am. J. Med. Genet.92:241-246(2000) [PubMed] [Europe PMC] [Abstract]

"The genetic basis of autosomal dominant familial Mediterranean fever."
Booth D.R. , Gillmore J.D. , Lachmann H.J. , Booth S.E. , Bybee A. , Soytuerk M. , Akar S. , Pepys M.B. , Tunca M. , Hawkins P.N.
QJM93:217-221(2000) [PubMed] [Europe PMC] [Abstract]

"The spectrum of familial mediterranean fever (FMF) mutations."
Touitou I.
Eur. J. Hum. Genet.9:473-483(2001) [PubMed] [Europe PMC] [Abstract]

"Is the Ala138Gly alteration of MEFV gene important for amyloidosis?"
Akar E. , Yalcinkaya F. , Akar N.
Hum. Mutat.17:71-71(2001) [PubMed] [Europe PMC] [Abstract]

"I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?"
Aldea A. , Casademont J. , Arostegui J.I. , Rius J. , Maso M. , Vives J. , Yague J.
Hum. Mutat.20:148-150(2002) [PubMed] [Europe PMC] [Abstract]

"A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?"
Aldea A. , Campistol J.M. , Arostegui J.I. , Rius J. , Maso M. , Vives J. , Yaguee J.
Am. J. Med. Genet. A124:67-73(2004) [PubMed] [Europe PMC] [Abstract]

"The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus."
Aldea A. , Calafell F. , Arostegui J.I. , Lao O. , Rius J. , Plaza S. , Maso M. , Vives J. , Buades J. , Yaguee J.
Hum. Mutat.23:399-399(2004) [PubMed] [Europe PMC] [Abstract]

"Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations."
Medlej-Hashim M. , Serre J.-L. , Corbani S. , Saab O. , Jalkh N. , Delague V. , Chouery E. , Salem N. , Loiselet J. , Lefranc G. , Megarbane A.
Eur. J. Med. Genet.48:412-420(2005) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)."
Goulielmos G.N. , Fragouli E. , Aksentijevich I. , Sidiropoulos P. , Boumpas D.T. , Eliopoulos E.
Biochem. Biophys. Res. Commun.345:1326-1332(2006) [PubMed] [Europe PMC] [Abstract]

"Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey."
Yesilada E. , Taskapan H. , Gulbay G.
Gene511:371-374(2012) [PubMed] [Europe PMC] [Abstract]

"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease."
Stoffels M. , Szperl A. , Simon A. , Netea M.G. , Plantinga T.S. , van Deuren M. , Kamphuis S. , Lachmann H.J. , Cuppen E. , Kloosterman W.P. , Frenkel J. , van Diemen C.C. , Wijmenga C. , van Gijn M. , van der Meer J.W.
Ann. Rheum. Dis.73:455-461(2014) [PubMed] [Europe PMC] [Abstract]