Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling-Reference-Cited by-同舟云学术

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Published:2014-03-30 Issue:5 Volume:46 Page:503-509
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Rice Gillian I,del Toro Duany Yoandris,Jenkinson Emma M,Forte Gabriella M A,Anderson Beverley H,Ariaudo Giada,Bader-Meunier Brigitte,Baildam Eileen M,Battini Roberta,Beresford Michael W,Casarano Manuela,Chouchane Mondher,Cimaz Rolando,Collins Abigail E,Cordeiro Nuno J V,Dale Russell C,Davidson Joyce E,De Waele Liesbeth,Desguerre Isabelle,Faivre Laurence,Fazzi Elisa,Isidor Bertrand,Lagae Lieven,Latchman Andrew R,Lebon Pierre,Li Chumei,Livingston John H,Lourenço Charles M,Mancardi Maria Margherita,Masurel-Paulet Alice,McInnes Iain B,Menezes Manoj P,Mignot Cyril,O'Sullivan James,Orcesi Simona,Picco Paolo P,Riva Enrica,Robinson Robert A,Rodriguez Diana,Salvatici Elisabetta,Scott Christiaan,Szybowska Marta,Tolmie John L,Vanderver Adeline,Vanhulle Catherine,Vieira Jose Pedro,Webb Kate,Whitney Robyn N,Williams Simon G,Wolfe Lynne A,Zuberi Sameer M,Hur Sun,Crow Yanick J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2933.pdf

Reference29 articles.

1. Gresser, I., Tovey, M.G., Maury, C. & Chouroulinkov, I. Lethality of interferon preparations for newborn mice. Nature 258, 76–78 (1975).

2. Gresser, I. et al. Progressive glomerulonephritis in mice treated with interferon preparations at birth. Nature 263, 420–422 (1976).

3. Gresser, I. et al. Interferon-induced disease in mice and rats. Ann. NY Acad. Sci. 350, 12–20 (1980).

4. Crow, Y.J. Type I interferonopathies: a novel set of inborn errors of immunity. Ann. NY Acad. Sci. 1238, 91–98 (2011).

5. 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).

Cited by 468 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Innate immune response to double-stranded RNA in American heritage chicken breeds;Poultry Science;2024-02

2. Contrasting functions of ATP hydrolysis by MDA5 and LGP2 in viral RNA sensing;Journal of Biological Chemistry;2024-02

3. Innate immune responses to RNA: sensing and signaling;Frontiers in Immunology;2024-01-25

4. Harnessing ADAR-Mediated Site-Specific RNA Editing in Immune-Related Disease: Prediction and Therapeutic Implications;International Journal of Molecular Sciences;2023-12-26

5. TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor;American Journal of Medical Genetics Part A;2023-12-22