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

Overview of attention for article published in Nature Genetics, March 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (83rd percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
8 tweeters
wikipedia
1 Wikipedia page
f1000
1 research highlight platform

Citations

dimensions_citation
318 Dimensions

Readers on

mendeley
292 Mendeley
citeulike
1 CiteULike
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Title
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Published in
Nature Genetics, March 2014
DOI 10.1038/ng.2933
Pubmed ID
Authors

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

Abstract

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome and of other undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer gain of function such that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.

Twitter Demographics

The data shown below were collected from the profiles of 8 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 292 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 6 2%
Spain 1 <1%
France 1 <1%
Germany 1 <1%
Unknown 283 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 70 24%
Student > Ph. D. Student 57 20%
Student > Bachelor 32 11%
Student > Master 25 9%
Student > Doctoral Student 21 7%
Other 59 20%
Unknown 28 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 82 28%
Biochemistry, Genetics and Molecular Biology 63 22%
Medicine and Dentistry 55 19%
Immunology and Microbiology 37 13%
Neuroscience 8 3%
Other 12 4%
Unknown 35 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 8. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 July 2015.
All research outputs
#2,631,108
of 16,071,681 outputs
Outputs from Nature Genetics
#3,278
of 6,494 outputs
Outputs of similar age
#32,826
of 194,593 outputs
Outputs of similar age from Nature Genetics
#47
of 68 outputs
Altmetric has tracked 16,071,681 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,494 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 34.2. This one is in the 49th percentile – i.e., 49% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 194,593 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 83% of its contemporaries.
We're also able to compare this research output to 68 others from the same source and published within six weeks on either side of this one. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.