Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is an IL-1–driven autoinflammatory disorder caused mainly by NLRP3 mutations. The pathogenesis of CINCA syndrome patients who carry NLRP3 mutations as somatic mosaicism has not been precisely described because of the difficulty in...

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Veröffentlicht in:	Blood 2012-08, Vol.120 (6), p.1299-1308
Hauptverfasser:	Tanaka, Takayuki, Takahashi, Kazutoshi, Yamane, Mayu, Tomida, Shota, Nakamura, Saori, Oshima, Koichi, Niwa, Akira, Nishikomori, Ryuta, Kambe, Naotomo, Hara, Hideki, Mitsuyama, Masao, Morone, Nobuhiro, Heuser, John E., Yamamoto, Takuya, Watanabe, Akira, Sato-Otsubo, Aiko, Ogawa, Seishi, Asaka, Isao, Heike, Toshio, Yamanaka, Shinya, Nakahata, Tatsutoshi, Saito, Megumu K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Carrier Proteins - genetics Carrier Proteins - physiology Cells, Cultured Cryopyrin-Associated Periodic Syndromes - drug therapy Cryopyrin-Associated Periodic Syndromes - genetics Cryopyrin-Associated Periodic Syndromes - pathology Drug Discovery - methods Hematologic and hematopoietic diseases Humans Induced Pluripotent Stem Cells - pathology Induced Pluripotent Stem Cells - physiology Infant Medical sciences Mice Mice, Inbred NOD Mice, SCID Mice, Transgenic Models, Theoretical Mosaicism Mutant Proteins - genetics Mutant Proteins - physiology NLR Family, Pyrin Domain-Containing 3 Protein
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