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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions

Overview of attention for article published in BMC Medical Genomics, October 2012
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  • Good Attention Score compared to outputs of the same age (66th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

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1 X user
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2 Wikipedia pages

Citations

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11 Dimensions

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40 Mendeley
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Title
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1microdeletions
Published in
BMC Medical Genomics, October 2012
DOI 10.1186/1471-2350-13-98
Pubmed ID
Authors

Tanja Mußotter, Lan Kluwe, Josef Högel, Rosa Nguyen, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Abstract

Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 3%
Unknown 39 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 18%
Other 5 13%
Researcher 5 13%
Student > Master 4 10%
Student > Doctoral Student 3 8%
Other 6 15%
Unknown 10 25%
Readers by discipline Count As %
Medicine and Dentistry 12 30%
Biochemistry, Genetics and Molecular Biology 11 28%
Agricultural and Biological Sciences 5 13%
Neuroscience 2 5%
Business, Management and Accounting 1 3%
Other 0 0%
Unknown 9 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 08 February 2014.
All research outputs
#8,261,756
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#605
of 2,444 outputs
Outputs of similar age
#64,671
of 202,002 outputs
Outputs of similar age from BMC Medical Genomics
#9
of 40 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 74% 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 202,002 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.