Evidence map›Paper›PMID 26062705›Full record

ArticleOrphanet journal of rare diseases2015

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

Wenping Cai, Beizhan Jiang, Tienan Feng, Jinfeng Xue, Jianhua Yang, Zhenghu Chen, Junjun Liu, Rongbin Wei, Shouliang Zhao, Xiaoping Wang and 1 more

Erratum issuedOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 1 country.

Wenping CaiDepartment of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. wenpingcai@126.com.
Beizhan JiangLaboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai, 200072, P. R. China. jiangbeizhan@tongji.edu.cn.
Tienan FengSchool of Life sciences and Technology, Tongji University, Shanghai, 200065, P. R. China. tienan_feng@126.com.
Jinfeng XueState Key Laboratory of Medical Genetics, Central South University, Changsha, 410078, P. R. China. xuejinfeng@sklmg.edu.cn.
Jianhua YangDepartment of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. jianhuay@bcm.edu.
Zhenghu ChenDepartment of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. chenzhenghu111@163.com.
Junjun LiuDepartment of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. ljj19931202@163.com.
Rongbin WeiDepartment of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. ljj19931202@163.com.
Shouliang ZhaoDepartment of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. slzhao@tongji.edu.cn.
Xiaoping WangLaboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai, 200072, P. R. China. wxp990@hotmail.com.
Shangfeng LiuDepartment of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. shangfengliufudan@163.com.
Shanghai Tenth People's Hospital · CNTongji University · CNHuashan Hospital · CNCentral South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWhite 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.

methodsSequence 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).

resultsConstruction 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.

conclusionsOur 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.

Indexed as

AdultCell LineHumansLeukokeratosis, Hereditary MucosalMaleMutationPedigreeSequence Analysis, RNA

Identifiers

PMID26062705
PMCPMC4474461
OpenAlexW2135115768

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.