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A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

Overview of attention for article published in Acta Veterinaria Scandinavica, May 2015
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  • Above-average Attention Score compared to outputs of the same age (51st percentile)

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3 Facebook pages

Citations

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Title
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
Published in
Acta Veterinaria Scandinavica, May 2015
DOI 10.1186/s13028-015-0115-1
Pubmed ID
Authors

Cecilia Rohdin, Douglas Gilliam, Caroline A. O’Leary, Dennis P. O’Brien, Joan R. Coates, Gary S. Johnson, Karin Hultin Jäderlund

Abstract

Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1, each associated with a specific clinical subtype of inherited ataxia. The aim of this study was to clarify whether or not Smooth-Haired Fox Terriers with hereditary ataxia and dogs of other related breeds harbor either of the same mutations. A sub goal was to update the results of KCNJ10 genotyping in Russell group terriers. Three Smooth-Haired Fox Terriers with hereditary ataxia and two Toy Fox Terriers with a similar phenotype were all homozygous for the KCNJ10 mutation. The same mutation was also found in a heterozygous state in clinically unaffected Tenterfield Terriers (n = 5) and, in agreement with previous studies, in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers. A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as "hereditary ataxia" in Fox Terriers and "spinocerebellar ataxia with myokymia, seizures or both" in the Russell group of terriers.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 5%
Unknown 19 95%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 15%
Other 3 15%
Lecturer 2 10%
Researcher 2 10%
Student > Ph. D. Student 2 10%
Other 4 20%
Unknown 4 20%
Readers by discipline Count As %
Veterinary Science and Veterinary Medicine 8 40%
Agricultural and Biological Sciences 2 10%
Biochemistry, Genetics and Molecular Biology 2 10%
Psychology 1 5%
Neuroscience 1 5%
Other 1 5%
Unknown 5 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 2016.
All research outputs
#7,595,475
of 13,181,286 outputs
Outputs from Acta Veterinaria Scandinavica
#165
of 498 outputs
Outputs of similar age
#104,574
of 232,806 outputs
Outputs of similar age from Acta Veterinaria Scandinavica
#1
of 1 outputs
Altmetric has tracked 13,181,286 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 498 research outputs from this source. They receive a mean Attention Score of 2.6. This one has gotten more attention than average, scoring higher than 64% 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 232,806 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 51% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them