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A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome

Overview of attention for article published in BMC Medical Genomics, June 2014
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Title
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome
Published in
BMC Medical Genomics, June 2014
DOI 10.1186/1471-2350-15-68
Pubmed ID
Authors

Yasutaka Ueda, Rodrigo T Calado, Anna Norberg, Sachiko Kajigaya, Göran Roos, Eva Hellstrom-Lindberg, Neal S Young

Abstract

Telomeres are repeated sequences (the hexanucleotide TTAGGG in vertebrates) located at chromosome ends of eukaryotes, protecting DNA from end joining or degradation. Telomeres become shorter with each cell cycle, but telomerase, a ribonucleoprotein complex, alleviates this attrition. The telomerase RNA component (TERC) is an essential element of telomerase, serving as a template for telomere elongation. The H/ACA domain of TERC is indispensable for telomere biogenesis. Mutations in the telomerase components allow accelerated telomere loss, resulting in various disease manifestations, including bone marrow failure. To date, this is the first detailed report of an H-box mutation in TERC that is related to human disease.

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X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
India 1 3%
Sri Lanka 1 3%
Unknown 32 91%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 23%
Student > Ph. D. Student 6 17%
Student > Postgraduate 5 14%
Lecturer 3 9%
Student > Doctoral Student 3 9%
Other 7 20%
Unknown 3 9%
Readers by discipline Count As %
Medicine and Dentistry 9 26%
Agricultural and Biological Sciences 8 23%
Biochemistry, Genetics and Molecular Biology 5 14%
Immunology and Microbiology 4 11%
Psychology 1 3%
Other 3 9%
Unknown 5 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 19 June 2014.
All research outputs
#22,759,802
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#208,877
of 242,775 outputs
Outputs of similar age from BMC Medical Genomics
#39
of 43 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 1st percentile – i.e., 1% 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 242,775 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.