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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Overview of attention for article published in Nature Genetics, June 2009
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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 (85th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

patent
5 patents
wikipedia
6 Wikipedia pages

Citations

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604 Dimensions

Readers on

mendeley
335 Mendeley
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Title
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Published in
Nature Genetics, June 2009
DOI 10.1038/ng.373
Pubmed ID
Authors

Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon P Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise A Brueton, Peter C Corry, Isabelle Desguerre, Elisa Fazzi, Angels Garcia Cazorla, Blanca Gener, Ben C J Hamel, Arvid Heiberg, Matthew Hunter, Marjo S van der Knaap, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles M Lourenco, Daphna Marom, Michael F McDermott, William van der Merwe, Simona Orcesi, Julie S Prendiville, Magnhild Rasmussen, Stavit A Shalev, Doriette M Soler, Marwan Shinawi, Ronen Spiegel, Tiong Y Tan, Adeline Vanderver, Emma L Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B Stetson, David T Bonthron, Yanick J Crow

Abstract

Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 335 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 1%
United Kingdom 2 <1%
Germany 1 <1%
France 1 <1%
Singapore 1 <1%
Canada 1 <1%
Unknown 325 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 77 23%
Researcher 69 21%
Student > Bachelor 33 10%
Student > Master 25 7%
Professor > Associate Professor 22 7%
Other 59 18%
Unknown 50 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 102 30%
Biochemistry, Genetics and Molecular Biology 74 22%
Medicine and Dentistry 52 16%
Immunology and Microbiology 23 7%
Neuroscience 7 2%
Other 17 5%
Unknown 60 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 04 May 2021.
All research outputs
#3,272,447
of 22,789,076 outputs
Outputs from Nature Genetics
#3,433
of 7,187 outputs
Outputs of similar age
#12,827
of 112,512 outputs
Outputs of similar age from Nature Genetics
#28
of 58 outputs
Altmetric has tracked 22,789,076 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,187 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.0. This one is in the 47th percentile – i.e., 47% 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 112,512 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 85% of its contemporaries.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.