Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell–Based Phenotype Dissection

Arthritis and Rheumatology

Volumn 69, Issue 2, 2017, Pages 447-459

  Kawasaki, Yuri ^a   Oda, Hirotsugu ^a,b   Ito, Jun ^a   Niwa, Akira ^a   Tanaka, Takayuki ^a   Hijikata, Atsushi ^c   Seki, Ryosuke ^d   Nagahashi, Ayako ^a   Osawa, Mitsujiro ^a   Asaka, Isao ^a   Watanabe, Akira ^a   Nishimata, Shigeo ^e   Shirai, Tsuyoshi ^c   Kawashima, Hisashi ^e   Ohara, Osamu ^b,f   Nakahata, Tatsutoshi ^a   Nishikomori, Ryuta ^a   Heike, Toshio ^a   Saito, Megumu K ^a  

^a KYOTO UNIVERSITY   (Japan)

^b Institute of Physical and Chemical Research   (Japan)

^c NAGAHAMA INSTITUTE OF BIO SCIENCE AND TECHNOLOGY   (Japan)

^d NIPPON SHINYAKU CO LTD   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

^f KAZUSA DNA RESEARCH INSTITUTE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; INTERLEUKIN 10; INTERLEUKIN 12P70; INTERLEUKIN 18; INTERLEUKIN 1BETA; INTERLEUKIN 33; INTERLEUKIN 6; INTERLEUKIN 8; NLRC4 PROTEIN; PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; NLRC4 PROTEIN, HUMAN;

ARTICLE; CELL DIFFERENTIATION; CELL LINEAGE; CHILD; CINCA SYNDROME; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONTROLLED STUDY; DISEASE COURSE; GENE MUTATION; GENETIC SCREENING; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; INDUCED PLURIPOTENT STEM CELL; JAPANESE (PEOPLE); MACROPHAGE; MALE; MONOCYTE; PATHOPHYSIOLOGY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKIN FIBROBLAST; SOMATIC CELL; SOMATIC MUTATION; WHOLE EXOME SEQUENCING; CASE REPORT; GENETICS; MUTATION; NEWBORN;

CALCIUM-BINDING PROTEINS; CARD SIGNALING ADAPTOR PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE;

EID: 85010877091     PISSN: 23265191     EISSN: 23265205     Source Type: Journal    
DOI: 10.1002/art.39960     Document Type: Article

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