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DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle

Overview of attention for article published in BMC Veterinary Research, March 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • High Attention Score compared to outputs of the same age and source (87th percentile)

Mentioned by

blogs
1 blog

Citations

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11 Dimensions

Readers on

mendeley
18 Mendeley
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1 CiteULike
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Title
DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle
Published in
BMC Veterinary Research, March 2015
DOI 10.1186/s12917-015-0366-0
Pubmed ID
Authors

Martin Peters, Irene Reber, Vidhya Jagannathan, Barbara Raddatz, Peter Wohlsein, Cord Drögemüller

Abstract

Rare diseases in livestock animals are traditionally poorly diagnosed. Other than clinical description and pathological examination, the underlying causes have, for the most part, remained unknown. A single case of congenital skin fragility in cattle was observed, necropsy, histological and ultrastructural examinations were carried out and whole genome sequencing was utilized to identify the causative mutation. A single purebred female Charolais calf with severe skin lesions was delivered full-term and died spontaneously after birth. The clinical and pathological findings exactly matched the gross description given by previous reports on epitheliogenesis imperfecta and epidermolysis bullosa (EB) in cattle. Histological and ultrastructural changes were consistent with EB junctionalis (EBJ). Genetic analysis revealed a previously unpublished ITGB4 loss-of-function mutation; the affected calf was homozygous for a 4.4 kb deletion involving exons 17 to 22, and the dam carried a single copy of the deletion indicating recessive inheritance. The homozygous mutant genotype did not occur in healthy controls of various breeds but some heterozygous carriers were found among Charolais cattle belonging to the affected herd. The mutant allele was absent in a representative sample of unrelated sires of the German Charolais population. This is the first time in which a recessively inherited ITGB4 associated EBJ has been reported in cattle. The identification of heterozygous carriers is of importance in avoiding the transmission of this defect in future. Current DNA sequencing methods offer a powerful tool for understanding the genetic background of rare diseases in domestic animals having a reference genome sequence available.

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 22%
Other 2 11%
Professor 1 6%
Researcher 1 6%
Professor > Associate Professor 1 6%
Other 1 6%
Unknown 8 44%
Readers by discipline Count As %
Veterinary Science and Veterinary Medicine 4 22%
Agricultural and Biological Sciences 3 17%
Computer Science 1 6%
Medicine and Dentistry 1 6%
Chemistry 1 6%
Other 0 0%
Unknown 8 44%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 10 March 2015.
All research outputs
#1,458,453
of 8,041,560 outputs
Outputs from BMC Veterinary Research
#112
of 1,219 outputs
Outputs of similar age
#47,182
of 205,014 outputs
Outputs of similar age from BMC Veterinary Research
#7
of 55 outputs
Altmetric has tracked 8,041,560 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,219 research outputs from this source. They receive a mean Attention Score of 2.6. This one has done particularly well, scoring higher than 90% 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 205,014 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 76% of its contemporaries.
We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.