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Open Access 01-12-2015 | Research

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

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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

Abstract

Background

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.

Methods

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).

Results

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.

Conclusions

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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Title: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
Authors: Wenping Cai
Beizhan Jiang
Tienan Feng
Jinfeng Xue
Jianhua Yang
Zhenghu Chen
Junjun Liu
Rongbin Wei
Shangfeng Liu
Shouliang Zhao
Xiaoping Wang
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0285-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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