Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
about
PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa BChronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesThe PAAD/PYRIN-only protein POP1/ASC2 is a modulator of ASC-mediated nuclear-factor-kappa B and pro-caspase-1 regulationComparative analysis of apoptosis and inflammation genes of mice and humansMutations in NALP12 cause hereditary periodic fever syndromesHeterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypesDe 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 diseasesThe PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathwaysThe CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signalsHeterotypic interactions among NACHT domains: implications for regulation of innate immune responsesAn autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistInterleukin-1 in the pathogenesis and treatment of inflammatory diseasesNew mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromesThe inflammasome: in memory of Dr. Jurg TschoppHorror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)The NLR gene family: a standard nomenclatureInflammasomes: too big to missBacterial peptidoglycan degrading enzymes and their impact on host muropeptide detectionNeisseria gonorrhoeae activates the proteinase cathepsin B to mediate the signaling activities of the NLRP3 and ASC-containing inflammasomePyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathwayATP binding by monarch-1/NLRP12 is critical for its inhibitory functionChronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generationAggressiveness Niche: Can It Be the Foster Ground for Cancer Metastasis Precursors?Questions and controversies in innate immune research: what is the physiological role of NLRP3?Diversity of Intestinal Macrophages in Inflammatory Bowel DiseasesNOD-Like Receptors in Infection, Immunity, and DiseasesMolecular mechanisms regulating NLRP3 inflammasome activationThe Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current ResearchPyrin- and CARD-only Proteins as Regulators of NLR FunctionsNOD-Like Receptors: Master Regulators of Inflammation and CancerPopulation genetic tools for dissecting innate immunity in humansAn Update on PYRIN Domain-Containing Pattern Recognition Receptors: From Immunity to PathologyA clear and present danger: inflammasomes DAMPing down disorders of pregnancyBeyond the NLRP3 inflammasome: autoinflammatory diseases reach adolescenceEarly detection of sensorineural hearing loss in Muckle-Wells-syndromeSingle-cell imaging of inflammatory caspase dimerization reveals differential recruitment to inflammasomes.Structural and Functional Analysis of the NLRP4 Pyrin DomainCrystal Structure of NALP3 Protein Pyrin Domain (PYD) and Its Implications in Inflammasome AssemblyStructures of the NLRP14 pyrin domain reveal a conformational switch mechanism regulating its molecular interactionsReview of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome
P2860
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P2860
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@ast
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en-gb
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@nl
type
label
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@ast
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en-gb
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@nl
prefLabel
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@ast
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en-gb
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutation of a new gene encodin ...... rome and Muckle-Wells syndrome
@en
P2093
A A Wanderer
D H Broide
H M Hoffman
J L Mueller
R D Kolodner
P2860
P2888
P3181
P356
10.1038/NG756
P407
P577
2001-11-01T00:00:00Z
P5875
P6179
1015613080