Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 Identified in an atypical autoinflammatory disorder

Arthritis and Rheumatism

Volumn 62, Issue 4, 2010, Pages 1176-1185

  Jéru, Isabelle ^a   Marlin, Sandrine ^b   Le Borgne, Gaëlle ^c   Cochet, Emmanuelle ^b   Normand, Sylvain ^d   Duquesnoy, Philippe ^e   Dastot Le Moal, Florence ^b   Cuisset, Laurence ^f   Hentgen, Véronique ^g   Fernandes Alnemri, Teresa ^h   Lecron, Jean Claude ^d   Dhote, Robin ⁱ   Grateau, Gilles ^j   Alnemri, Emad S ^h   Amselem, Serge ^a  

^a SORBONNE UNIVERSITÉ   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c INSERM   (France)

^d UNIVERSITÉ DE POITIERS   (France)

^e Assistance publique Hôpitaux de Paris   (France)

^f Centre Hospitalier de Versailles ^*  (France)

^g CENTRE HOSPITALIER DE VERSAILLES   (France)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

ⁱ UNIVERSITÉ PARIS 13   (France)

^j HÔPITAL TENON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1 ANTIBODY; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; LEUCINE;

ADULT; ARTICLE; AUTOINFLAMMATORY DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYOPYRINOPATHY; CYTOKINE RELEASE; ENZYME ACTIVATION; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC SCREENING; HEREDITARY PERIODIC FEVER; HETEROZYGOTE; HUMAN; HUMAN CELL; INFLAMMATION; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN PROCESSING; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; CARRIER PROTEINS; CELL LINE; CYTOKINES; DNA; DNA PRIMERS; FEMALE; GENETIC VARIATION; GERM-LINE MUTATION; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; INTERLEUKIN-1BETA; KIDNEY; MALE; MONOCYTES; MOTHERS; MUTATION, MISSENSE; PLASMIDS; SIBLINGS;

EID: 77950547943     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27326     Document Type: Article

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