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Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Overview of attention for article published in Nature Genetics, April 2014
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (98th percentile)

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378 Mendeley
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Title
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
Published in
Nature Genetics, April 2014
DOI 10.1038/ng.2925
Pubmed ID
Authors

Kathryn R Taylor, Alan Mackay, Nathalène Truffaux, Yaron S Butterfield, Olena Morozova, Cathy Philippe, David Castel, Catherine S Grasso, Maria Vinci, Diana Carvalho, Angel M Carcaboso, Carmen de Torres, Ofelia Cruz, Jaume Mora, Natacha Entz-Werle, Wendy J Ingram, Michelle Monje, Darren Hargrave, Alex N Bullock, Stéphanie Puget, Stephen Yip, Chris Jones, Jacques Grill

Abstract

Diffuse intrinsic pontine gliomas (DIPGs) are highly infiltrative malignant glial neoplasms of the ventral pons that, due to their location within the brain, are unsuitable for surgical resection and consequently have a universally dismal clinical outcome. The median survival time is 9-12 months, with neither chemotherapeutic nor targeted agents showing substantial survival benefit in clinical trials in children with these tumors. We report the identification of recurrent activating mutations in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, in 21% of DIPG samples. Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP) and have been shown to constitutively activate the BMP-TGF-β signaling pathway. These mutations represent new targets for therapeutic intervention in this otherwise incurable disease.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 378 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 6 2%
France 2 <1%
Spain 2 <1%
Netherlands 1 <1%
Italy 1 <1%
United Kingdom 1 <1%
Portugal 1 <1%
Japan 1 <1%
Sweden 1 <1%
Other 0 0%
Unknown 362 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 69 18%
Researcher 66 17%
Student > Master 32 8%
Student > Bachelor 32 8%
Student > Doctoral Student 24 6%
Other 76 20%
Unknown 79 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 80 21%
Medicine and Dentistry 73 19%
Agricultural and Biological Sciences 65 17%
Neuroscience 20 5%
Pharmacology, Toxicology and Pharmaceutical Science 11 3%
Other 42 11%
Unknown 87 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 404. 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 02 January 2024.
All research outputs
#74,356
of 25,559,053 outputs
Outputs from Nature Genetics
#105
of 7,592 outputs
Outputs of similar age
#518
of 239,690 outputs
Outputs of similar age from Nature Genetics
#2
of 71 outputs
Altmetric has tracked 25,559,053 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,592 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 43.0. This one has done particularly well, scoring higher than 98% 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 239,690 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 71 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 98% of its contemporaries.