Literature DB >> 16133235

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.

Hidetoshi Takada1, Koichi Kusuhara, Akihiko Nomura, Shouichi Ohga, Mikiko Hayashi, Masutaka Furue, Toshiro Hara.   

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Year:  2005        PMID： 16133235     DOI： 10.1007/s00431-005-1750-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.

Authors:  Joost Frenkel; Marjan J A van Kempen; Wietse Kuis; Hans Kristian Ploos van Amstel
Journal:  Arthritis Rheum       Date:  2004-08

2.  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.

Authors:  Ivona Aksentijevich; Miroslawa Nowak; Mustapha Mallah; Jae Jin Chae; Wendy T Watford; Sigrun R Hofmann; Leonard Stein; Ricardo Russo; Donald Goldsmith; Peter Dent; Helene F Rosenberg; Frances Austin; Elaine F Remmers; James E Balow; Sergio Rosenzweig; Hirsh Komarow; Nitza G Shoham; Geryl Wood; Janet Jones; Nadira Mangra; Hector Carrero; Barbara S Adams; Terry L Moore; Kenneth Schikler; Hal Hoffman; Daniel J Lovell; Robert Lipnick; Karyl Barron; John J O'Shea; Daniel L Kastner; Raphaela Goldbach-Mansky
Journal:  Arthritis Rheum       Date:  2002-12

3.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Authors:  H M Hoffman; J L Mueller; D H Broide; A A Wanderer; R D Kolodner
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

4.  Infevers: an evolving mutation database for auto-inflammatory syndromes.

Authors:  Isabelle Touitou; Suzanne Lesage; Michael McDermott; Laurence Cuisset; Hal Hoffman; Catherine Dode; Nitza Shoham; Ebun Aganna; Jean-Pierre Hugot; Carol Wise; Hans Waterham; Denis Pugnere; Jacques Demaille; Cyril Sarrauste de Menthiere
Journal:  Hum Mutat       Date:  2004-09       Impact factor: 4.878

Review 5.  Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases.

Authors:  Fabio Martinon; Jürg Tschopp
Journal:  Cell       Date:  2004-05-28       Impact factor: 41.582

6.  Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist.

Authors:  Hal M Hoffman; Sanna Rosengren; David L Boyle; Jae Y Cho; Jyothi Nayar; James L Mueller; Justin P Anderson; Alan A Wanderer; Gary S Firestein
Journal:  Lancet       Date:  2004 Nov 13-19       Impact factor: 79.321
  6 in total
  1 in total

1.  A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.

Authors:  Hirokazu Kanegane; Toshiko Itazawa; Megumu Saito; Ryuta Nishikomori; Teruhiko Makino; Tadamichi Shimizu; Yuichi Adachi; Tatsutoshi Nakahata; Toshio Miyawaki
Journal:  Eur J Pediatr       Date:  2007-03-02       Impact factor: 3.183
  1 in total

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