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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Overview of attention for article published in Nature Genetics, January 2012
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  • 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

twitter
6 tweeters
wikipedia
1 Wikipedia page
googleplus
1 Google+ user
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1 research highlight platform

Citations

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165 Dimensions

Readers on

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135 Mendeley
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Title
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Published in
Nature Genetics, January 2012
DOI 10.1038/ng.1084
Pubmed ID
Authors

Beverley H Anderson, Paul R Kasher, Josephine Mayer, Marcin Szynkiewicz, Emma M Jenkinson, Sanjeev S Bhaskar, Jill E Urquhart, Sarah B Daly, Jonathan E Dickerson, James O'Sullivan, Elisabeth Oppliger Leibundgut, Joanne Muter, Ghada M H Abdel-Salem, Riyana Babul-Hirji, Peter Baxter, Andrea Berger, Luisa Bonafé, Janice E Brunstom-Hernandez, Johannes A Buckard, David Chitayat, Wui K Chong, Duccio M Cordelli, Patrick Ferreira, Joel Fluss, Ewan H Forrest, Emilio Franzoni, Caterina Garone, Simon R Hammans, Gunnar Houge, Imelda Hughes, Sebastien Jacquemont, Pierre-Yves Jeannet, Rosalind J Jefferson, Ram Kumar, Georg Kutschke, Staffan Lundberg, Charles M Lourenço, Ramesh Mehta, Sakkubai Naidu, Ken K Nischal, Luís Nunes, Katrin Õunap, Michel Philippart, Prab Prabhakar, Sarah R Risen, Raphael Schiffmann, Calvin Soh, John B P Stephenson, Helen Stewart, Jon Stone, John L Tolmie, Marjo S van der Knaap, Jose P Vieira, Catheline N Vilain, Emma L Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C Lovell, Stefan Meyer, John H Livingston, Gabriela M Baerlocher, Graeme C M Black, Gillian I Rice, Yanick J Crow

Abstract

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 135 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 3 2%
United Kingdom 1 <1%
Australia 1 <1%
France 1 <1%
Canada 1 <1%
Spain 1 <1%
Portugal 1 <1%
Unknown 126 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 29 21%
Student > Ph. D. Student 28 21%
Student > Master 13 10%
Student > Bachelor 9 7%
Student > Doctoral Student 8 6%
Other 35 26%
Unknown 13 10%
Readers by discipline Count As %
Medicine and Dentistry 42 31%
Agricultural and Biological Sciences 40 30%
Biochemistry, Genetics and Molecular Biology 30 22%
Neuroscience 3 2%
Pharmacology, Toxicology and Pharmaceutical Science 1 <1%
Other 3 2%
Unknown 16 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 11 July 2012.
All research outputs
#1,521,778
of 11,252,870 outputs
Outputs from Nature Genetics
#2,566
of 5,766 outputs
Outputs of similar age
#36,926
of 263,584 outputs
Outputs of similar age from Nature Genetics
#46
of 90 outputs
Altmetric has tracked 11,252,870 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,766 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.5. This one has gotten more attention than average, scoring higher than 55% 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 263,584 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 90 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.