Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature-Reference-Cited by-同舟云学术

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Published:2012-09-23 Issue:11 Volume:44 Page:1243-1248
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Rice Gillian I,Kasher Paul R,Forte Gabriella M A,Mannion Niamh M,Greenwood Sam M,Szynkiewicz Marcin,Dickerson Jonathan E,Bhaskar Sanjeev S,Zampini Massimiliano,Briggs Tracy A,Jenkinson Emma M,Bacino Carlos A,Battini Roberta,Bertini Enrico,Brogan Paul A,Brueton Louise A,Carpanelli Marialuisa,De Laet Corinne,de Lonlay Pascale,del Toro Mireia,Desguerre Isabelle,Fazzi Elisa,Garcia-Cazorla Àngels,Heiberg Arvid,Kawaguchi Masakazu,Kumar Ram,Lin Jean-Pierre S-M,Lourenco Charles M,Male Alison M,Marques Wilson,Mignot Cyril,Olivieri Ivana,Orcesi Simona,Prabhakar Prab,Rasmussen Magnhild,Robinson Robert A,Rozenberg Flore,Schmidt Johanna L,Steindl Katharina,Tan Tiong Y,van der Merwe William G,Vanderver Adeline,Vassallo Grace,Wakeling Emma L,Wassmer Evangeline,Whittaker Elizabeth,Livingston John H,Lebon Pierre,Suzuki Tamio,McLaughlin Paul J,Keegan Liam P,O'Connell Mary A,Lovell Simon C,Crow Yanick J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2414.pdf

Reference52 articles.

1. Crow, Y.J. & Livingston, J.H. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Dev. Med. Child Neurol. 50, 410–416 (2008).

2. Lebon, P. et al. Intrathecal synthesis of interferon-α in infants with progressive familial encephalopathy. J. Neurol. Sci. 84, 201–208 (1988).

3. Crow, Y.J. et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat. Genet. 38, 917–920 (2006).

4. Crow, Y.J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat. Genet. 38, 910–916 (2006).

5. Rice, G.I. et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat. Genet. 41, 829–832 (2009).

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