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DNA ligase IV syndrome; a review

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2016
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  • Good Attention Score compared to outputs of the same age (70th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

twitter
3 tweeters
wikipedia
2 Wikipedia pages

Citations

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48 Dimensions

Readers on

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91 Mendeley
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Title
DNA ligase IV syndrome; a review
Published in
Orphanet Journal of Rare Diseases, October 2016
DOI 10.1186/s13023-016-0520-1
Pubmed ID
Authors

Thomas Altmann, Andrew R. Gennery

Abstract

DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair DNA double stranded breaks. Ubiquitously expressed, it is required to prevent mutagenesis and apoptosis, which can result from DNA double strand breakage caused by intracellular events such as DNA replication and meiosis or extracellular events including damage by reactive oxygen species and ionising radiation.Within developing lymphocytes, DNA ligase IV is required to repair programmed DNA double stranded breaks induced during lymphocyte receptor development.Patients with hypomorphic mutations in LIG4 present with a range of phenotypes, from normal to severe combined immunodeficiency. All, however, manifest sensitivity to ionising radiation. Commonly associated features include primordial growth failure with severe microcephaly and a spectrum of learning difficulties, marrow hypoplasia and a predisposition to lymphoid malignancy. Diagnostic investigations include immunophenotyping, and testing for radiosensitivity. Some patients present with microcephaly as a predominant feature, but seemingly normal immunity. Treatment is mainly supportive, although haematopoietic stem cell transplantation has been used in a few cases.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 91 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 17 19%
Student > Master 17 19%
Researcher 14 15%
Student > Ph. D. Student 12 13%
Other 5 5%
Other 10 11%
Unknown 16 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 31 34%
Medicine and Dentistry 16 18%
Agricultural and Biological Sciences 11 12%
Chemical Engineering 2 2%
Neuroscience 2 2%
Other 11 12%
Unknown 18 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 03 September 2018.
All research outputs
#3,432,217
of 13,459,952 outputs
Outputs from Orphanet Journal of Rare Diseases
#445
of 1,486 outputs
Outputs of similar age
#78,387
of 268,094 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 35 outputs
Altmetric has tracked 13,459,952 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 1,486 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has gotten more attention than average, scoring higher than 69% 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 268,094 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 70% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.