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Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

Overview of attention for article published in Journal of Clinical Investigation, June 2008
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  • Above-average Attention Score compared to outputs of the same age and source (52nd percentile)

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1 Wikipedia page

Citations

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87 Dimensions

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26 Mendeley
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1 CiteULike
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Title
Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Published in
Journal of Clinical Investigation, June 2008
DOI 10.1172/jci34088
Pubmed ID
Authors

Masoud Shekarabi, Nathalie Girard, Jean-Baptiste Rivière, Patrick Dion, Martin Houle, André Toulouse, Ronald G. Lafrenière, Freya Vercauteren, Pascale Hince, Janet Laganiere, Daniel Rochefort, Laurence Faivre, Mark Samuels, Guy A. Rouleau

Abstract

Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. We report here that HSN2 is a nervous system-specific exon of the with-no-lysine(K)-1 (WNK1) gene. WNK1 mutations have previously been reported to cause pseudohypoaldosteronism type II but have not been studied in the nervous system. Given the high degree of conservation of WNK1 between mice and humans, we characterized the structure and expression patterns of this isoform in mice. Immunodetections indicated that this Wnk1/Hsn2 isoform was expressed in sensory components of the peripheral nervous system and CNS associated with relaying sensory and nociceptive signals, including satellite cells, Schwann cells, and sensory neurons. We also demonstrate that the novel protein product of Wnk1/Hsn2 was more abundant in sensory neurons than motor neurons. The characteristics of WNK1/HSN2 point to a possible role for this gene in the peripheral sensory perception deficits characterizing HSANII.

Mendeley readers

The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Switzerland 1 4%
Unknown 25 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 23%
Student > Ph. D. Student 4 15%
Student > Master 4 15%
Professor > Associate Professor 3 12%
Student > Postgraduate 2 8%
Other 4 15%
Unknown 3 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 14 54%
Medicine and Dentistry 3 12%
Biochemistry, Genetics and Molecular Biology 2 8%
Computer Science 1 4%
Engineering 1 4%
Other 0 0%
Unknown 5 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 04 November 2008.
All research outputs
#816,600
of 3,635,018 outputs
Outputs from Journal of Clinical Investigation
#1,585
of 4,202 outputs
Outputs of similar age
#25,202
of 96,307 outputs
Outputs of similar age from Journal of Clinical Investigation
#18
of 40 outputs
Altmetric has tracked 3,635,018 research outputs across all sources so far. This one has received more attention than most of these and is in the 63rd percentile.
So far Altmetric has tracked 4,202 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.1. This one is in the 41st percentile – i.e., 41% 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 96,307 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 72% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 52% of its contemporaries.