"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome."
Hoffman H.M. , Mueller J.L. , Broide D.H. , Wanderer A.A. , Kolodner R.D.
Nat. Genet.29:301-305(2001) [PubMed] [Europe PMC] [Abstract]

"Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis."
Aganna E. , Martinon F. , Hawkins P.N. , Ross J.B. , Swan D.C. , Booth D.R. , Lachmann H.J. , Gaudet R. , Woo P. , Feighery C. , Cotter F.E. , Thome M. , Hitman G.A. , Tschopp J. , McDermott M.F.
Arthritis Rheum.46:2445-2452(2002) [PubMed] [Europe PMC] [Abstract]

"PYPAF1: a PYRIN-containing APAF1-like protein that assembles with ASC and activates NF-kB."
Manji G.A. , Wang L. , Geddes B.J. , Brown M. , Merriam S. , Al-Garawi A. , Mak S. , Lora J.M. , Briskin M. , Jurman M. , Cao J. , DiStefano P.S. , Bertin J.
J. Biol. Chem.277:11570-11575(2002) [PubMed] [Europe PMC] [Abstract]

"CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappa B suppressive properties."
O'Connor W. Jr. , Harton J.A. , Zhu X. , Linhoff M.W. , Ting J.-P.
J. Immunol.171:6329-6333(2003) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
Submitted (2005-03) to the EMBL/GenBank/DDBJ databases

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , Atkinson A. , Cooper R. , Jones C. , Hall R.E. , Andrews T.D. , Lloyd C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Anderson F. , Andrew R.W. , Ashwell R.I.S. , Aubin K. , Babbage A.K. , Bagguley C.L. , Bailey J. , Beasley H. , Bethel G. , Bird C.P. , Bray-Allen S. , Brown J.Y. , Brown A.J. , Buckley D. , Burton J. , Bye J. , Carder C. , Chapman J.C. , Clark S.Y. , Clarke G. , Clee C. , Cobley V. , Collier R.E. , Corby N. , Coville G.J. , Davies J. , Deadman R. , Dunn M. , Earthrowl M. , Ellington A.G. , Errington H. , Frankish A. , Frankland J. , French L. , Garner P. , Garnett J. , Gay L. , Ghori M.R.J. , Gibson R. , Gilby L.M. , Gillett W. , Glithero R.J. , Grafham D.V. , Griffiths C. , Griffiths-Jones S. , Grocock R. , Hammond S. , Harrison E.S.I. , Hart E. , Haugen E. , Heath P.D. , Holmes S. , Holt K. , Howden P.J. , Hunt A.R. , Hunt S.E. , Hunter G. , Isherwood J. , James R. , Johnson C. , Johnson D. , Joy A. , Kay M. , Kershaw J.K. , Kibukawa M. , Kimberley A.M. , King A. , Knights A.J. , Lad H. , Laird G. , Lawlor S. , Leongamornlert D.A. , Lloyd D.M. , Loveland J. , Lovell J. , Lush M.J. , Lyne R. , Martin S. , Mashreghi-Mohammadi M. , Matthews L. , Matthews N.S.W. , McLaren S. , Milne S. , Mistry S. , Moore M.J.F. , Nickerson T. , O'Dell C.N. , Oliver K. , Palmeiri A. , Palmer S.A. , Parker A. , Patel D. , Pearce A.V. , Peck A.I. , Pelan S. , Phelps K. , Phillimore B.J. , Plumb R. , Rajan J. , Raymond C. , Rouse G. , Saenphimmachak C. , Sehra H.K. , Sheridan E. , Shownkeen R. , Sims S. , Skuce C.D. , Smith M. , Steward C. , Subramanian S. , Sycamore N. , Tracey A. , Tromans A. , Van Helmond Z. , Wall M. , Wallis J.M. , White S. , Whitehead S.L. , Wilkinson J.E. , Willey D.L. , Williams H. , Wilming L. , Wray P.W. , Wu Z. , Coulson A. , Vaudin M. , Sulston J.E. , Durbin R.M. , Hubbard T. , Wooster R. , Dunham I. , Carter N.P. , McVean G. , Ross M.T. , Harrow J. , Olson M.V. , Beck S. , Rogers J. , Bentley D.R. more...
Nature441:315-321(2006) [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 (2005-07) 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]

"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H. , Ye M. , Wu X.-Y. , Ren S.-X. , Zhao M. , Zhao C.-J. , Fu G. , Shen Y. , Fan H.-Y. , Lu G. , Zhong M. , Xu X.-R. , Han Z.-G. , Zhang J.-W. , Tao J. , Huang Q.-H. , Zhou J. , Hu G.-X. , Gu J. , Chen S.-J. , Chen Z. more...
Genome Res.10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]

"NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder."
Agostini L. , Martinon F. , Burns K. , McDermott M.F. , Hawkins P.N. , Tschopp J.
Immunity20:319-325(2004) [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]

"Inflammasome components NALP 1 and 3 Show distinct but separate Expression profiles in human tissues suggesting a site-specific role in the inflammatory response."
Kummer J.A. , Broekhuizen R. , Everett H. , Agostini L. , Kuijk L. , Martinon F. , van Bruggen R. , Tschopp J.
J. Histochem. Cytochem.55:443-452(2007) [PubMed] [Europe PMC] [Abstract]

"Osteoblasts express NLRP3, a nucleotide-binding domain and leucine-rich repeat region containing receptor implicated in bacterially induced cell death."
McCall S.H. , Sahraei M. , Young A.B. , Worley C.S. , Duncan J.A. , Ting J.P. , Marriott I.
J. Bone Miner. Res.23:30-40(2008) [PubMed] [Europe PMC] [Abstract]

"Novel role of PKR in inflammasome activation and HMGB1 release."
Lu B. , Nakamura T. , Inouye K. , Li J. , Tang Y. , Lundbaeck P. , Valdes-Ferrer S.I. , Olofsson P.S. , Kalb T. , Roth J. , Zou Y. , Erlandsson-Harris H. , Yang H. , Ting J.P. , Wang H. , Andersson U. , Antoine D.J. , Chavan S.S. , Hotamisligil G.S. , Tracey K.J. more...
Nature488:670-674(2012) [PubMed] [Europe PMC] [Abstract]

"Selective inhibition of the NLRP3 inflammasome by targeting to promyelocytic leukemia protein in mouse and human."
Lo Y.H. , Huang Y.W. , Wu Y.H. , Tsai C.S. , Lin Y.C. , Mo S.T. , Kuo W.C. , Chuang Y.T. , Jiang S.T. , Shih H.M. , Lai M.Z.
Blood121:3185-3194(2013) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of NALP3 protein pyrin domain (PYD) and its implications in inflammasome assembly."
Bae J.Y. , Park H.H.
J. Biol. Chem.286:39528-39536(2011) [PubMed] [Europe PMC] [Abstract]

"New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes."
Dode C. , Le Du N. , Cuisset L. , Letourneur F. , Berthelot J.-M. , Vaudour G. , Meyrier A. , Watts R.A. , Scott D.G.I. , Nicholls A. , Granel B. , Frances C. , Garcier F. , Edery P. , Boulinguez S. , Domergues J.-P. , Delpech M. , Grateau G.
Am. J. Hum. Genet.70:1498-1506(2002) [PubMed] [Europe PMC] [Abstract]

"Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes."
Feldmann J. , Prieur A.-M. , Quartier P. , Berquin P. , Certain S. , Cortis E. , Teillac-Hamel D. , Fischer A. , de Saint Basile G.
Am. J. Hum. Genet.71:198-203(2002) [PubMed] [Europe PMC] [Abstract]

"De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases."
Aksentijevich I. , Nowak M. , Mallah M. , Chae J.J. , Watford W.T. , Hofmann S.R. , Stein L. , Russo R. , Goldsmith D. , Dent P. , Rosenberg H.F. , Austin F. , Remmers E.F. , Balow J.E. Jr. , Rosenzweig S. , Komarow H. , Shoham N.G. , Wood G. , Jones J. , Mangra N. , Carrero H. , Adams B.S. , Moore T.L. , Schikler K. , Hoffman H. , Lovell D.J. , Lipnick R. , Barron K. , O'Shea J.J. , Kastner D.L. , Goldbach-Mansky R. more...
Arthritis Rheum.46:3340-3348(2002) [PubMed] [Europe PMC] [Abstract]

"Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P."
Hoffman H.M. , Gregory S.G. , Mueller J.L. , Tresierras M. , Broide D.H. , Wanderer A.A. , Kolodner R.D.
Hum. Genet.112:209-216(2003) [PubMed] [Europe PMC] [Abstract]

"Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1."
Frenkel J. , van Kempen M.J. , Kuis W. , van Amstel H.K.
Arthritis Rheum.50:2719-2720(2004) [PubMed] [Europe PMC] [Abstract]

"Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene."
Arostegui J.I. , Aldea A. , Modesto C. , Rua M.J. , Argueelles F. , Gonzalez-Ensenat M.A. , Ramos E. , Rius J. , Plaza S. , Vives J. , Yaguee J.
Arthritis Rheum.50:4045-4050(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU."
Neven B. , Callebaut I. , Prieur A.-M. , Feldmann J. , Bodemer C. , Lepore L. , Derfalvi B. , Benjaponpitak S. , Vesely R. , Sauvain M.J. , Oertle S. , Allen R. , Morgan G. , Borkhardt A. , Hill C. , Gardner-Medwin J. , Fischer A. , de Saint Basile G.
Blood103:2809-2815(2004) [PubMed] [Europe PMC] [Abstract]

"A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy."
Stojanov S. , Weiss M. , Lohse P. , Belohradsky B.H.
Pediatrics114:E124-E127(2004) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin."
Shalev S.A. , Sprecher E. , Indelman M. , Hujirat Y. , Bergman R. , Rottem M.
Int. Arch. Allergy Immunol.143:190-193(2007) [PubMed] [Europe PMC] [Abstract]