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Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2015
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Title
Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
Published in
Orphanet Journal of Rare Diseases, June 2015
DOI 10.1186/s13023-015-0285-y
Pubmed ID
Authors

Wenping Cai, Beizhan Jiang, Tienan Feng, Jinfeng Xue, Jianhua Yang, Zhenghu Chen, Junjun Liu, Rongbin Wei, Shangfeng Liu, Shouliang Zhao, Xiaoping Wang

Abstract

White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling. Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq). Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced. Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.

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X Demographics

The data shown below were collected from the profiles of 3 X users 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 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Other 1 8%
Lecturer 1 8%
Student > Doctoral Student 1 8%
Student > Bachelor 1 8%
Student > Ph. D. Student 1 8%
Other 2 17%
Unknown 5 42%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 25%
Medicine and Dentistry 2 17%
Agricultural and Biological Sciences 1 8%
Unknown 6 50%
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 13 June 2015.
All research outputs
#15,336,434
of 22,811,321 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,793
of 2,615 outputs
Outputs of similar age
#156,668
of 266,811 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#26
of 38 outputs
Altmetric has tracked 22,811,321 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,615 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% 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 266,811 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 38 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.