Evidence map›Paper›PMID 31390831›Full record

ArticleJournal of clinical medicine2019

A Mutation in

Yonggoo Kim, Hye Jin You, Shin Hae Park, Man Soo Kim, Hyojin Chae, Joonhong Park, Dong Wook Jekarl, Jiyeon Kim, Ahlm Kwon, Hayoung Choi and 11 more

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

Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 36% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 5 institutions in 1 country.

Yonggoo KimDepartment of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Hye Jin YouCancer Cell and Molecular Biology Branch, Division of Cancer Biology, National Cancer Center, Gyeonggi-do 10408, Korea.
Shin Hae ParkDepartment of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Man Soo KimDepartment of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Hyojin ChaeDepartment of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Joonhong ParkDepartment of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Dong Wook JekarlDepartment of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Jiyeon KimCatholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Ahlm KwonCatholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Hayoung ChoiCatholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Yeojae KimCatholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
A Rome PaekCancer Cell and Molecular Biology Branch, Division of Cancer Biology, National Cancer Center, Gyeonggi-do 10408, Korea.
Ahwon LeeDepartment of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Jung Min KimGenoplan Korea, Inc., Seoul 06221, Korea.
Seon Young ParkDepartment of Life Systems, Sookmyung Women's University, Seoul 04312, Korea.
Yonghwan KimDepartment of Life Systems, Sookmyung Women's University, Seoul 04312, Korea.
Keehyoung JooCenter for in Silico Protein Science, Korea Institute for Advanced Study, Seoul 02455, Korea.
Jongsun JungSyntekabio Inc., Daejeon 34025, Korea.
So-Hyang ChungDepartment of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.
Jee Won MokCatholic Institutes of Visual Science, The Catholic University of Korea, Seoul 06591, Korea.
Myungshin KimDepartment of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea. microkim@catholic.ac.kr.
The Catholic University of Korea Seoul St. Mary's Hospital · KRSookmyung Women's University · KRKorea Institute for Advanced Study · KRNational Cancer Center · KRCatholic University of Korea · KR

Funding

Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education NRF-2013R1A1A2006801Korea government (MEST) No. 2008-0061987Ministry of Science, ICT & Future Planning NRF-2016R1C1B1016590
6 · The paper itself

Abstract

Corneal dystrophies (CDs) are a diverse group of inherited disorders with a heterogeneous genetic background. Here, we report the identification of a novel ZNF143 heterozygous missense mutation in three individuals of the same family with clinical and pathological features that are consistent with endothelial CD. Ophthalmologic examination revealed diffuse corneal clouding and edema with decreased endothelial cell density. Pathological findings showed increased corneal thickness due to edema of basal epithelial cells and stroma, and abnormal metaplastic endothelium with stratified epithelium-like changes. Patients' metaplastic corneal endothelial cells expressed predominantly cytokerain 7, cytokeratin 19, and E-cadherin. Although Sanger sequencing did not detect any mutation associated with endothelial CDs, whole exome sequencing identified the

Indexed as

array-comparative genomic hybridization (CGH)endothelial corneal dystrophynovel mutationposterior polymorphous corneal dystrophy (PPCD)reverse epithelial-to-mesenchymal transition (reverse EMT)three-dimensional modelingtransfectionwhole exome sequencing (WES)ZNF143 gene

Identifiers

PMID31390831
PMCPMC6723187
OpenAlexW2966661810

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.