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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)

Mentioned by

4 patents
2 Wikipedia pages


466 Dimensions

Readers on

263 Mendeley
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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

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


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

The data shown below were compiled from readership statistics for 263 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 2%
United Kingdom 2 <1%
France 1 <1%
Canada 1 <1%
Singapore 1 <1%
Germany 1 <1%
Unknown 253 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 67 25%
Researcher 62 24%
Student > Bachelor 23 9%
Student > Master 22 8%
Professor > Associate Professor 21 8%
Other 52 20%
Unknown 16 6%
Readers by discipline Count As %
Agricultural and Biological Sciences 98 37%
Biochemistry, Genetics and Molecular Biology 54 21%
Medicine and Dentistry 44 17%
Immunology and Microbiology 18 7%
Neuroscience 5 2%
Other 16 6%
Unknown 28 11%

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 27 August 2019.
All research outputs
of 15,720,079 outputs
Outputs from Nature Genetics
of 6,451 outputs
Outputs of similar age
of 291,132 outputs
Outputs of similar age from Nature Genetics
of 65 outputs
Altmetric has tracked 15,720,079 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,451 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 33.7. This one has gotten more attention than average, scoring higher than 51% of its peers.
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 291,132 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 65 others from the same source and published within six weeks on either side of this one. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.