Evidence map›Paper›PMID 37809982›Full record

ArticleHeliyon2023

Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3.

Yan-Ping Li, Ren-Juan Shen, You-Min Cheng, Qingqing Zhao, Kangxin Jin, Zi-Bing Jin, Shaodan Zhang

Open access · goldAbstract read
In one paragraph

Article in Heliyon, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 71% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

7 authors at 3 institutions in 1 country.

Yan-Ping LiLaboratory for Stem Cell & Retinal Regeneration, The Eye Hospital, Basic Medical College, Wenzhou Medical University, Wenzhou, 325027, China.
Ren-Juan ShenBeijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, 100730, China.
You-Min ChengLaboratory for Stem Cell & Retinal Regeneration, The Eye Hospital, Basic Medical College, Wenzhou Medical University, Wenzhou, 325027, China.
Qingqing ZhaoKey Laboratory of Structural Biology of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, 310030, China.
Kangxin JinBeijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, 100730, China.
Zi-Bing JinLaboratory for Stem Cell & Retinal Regeneration, The Eye Hospital, Basic Medical College, Wenzhou Medical University, Wenzhou, 325027, China.
Shaodan ZhangThe Eye Hospital of Wenzhou Medical University, National Clinical Research Center for Ocular Diseases, Glaucoma Research Institute of Wenzhou Medical University, Wenzhou, 325027, China.
Beijing Tongren Hospital · CNWenzhou Medical University · CNWestlake University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal dystrophies (IRDs) are a heterogeneous group of visual disorders caused by different pathogenic mutations in genes and regulatory sequences. The endoplasmic reticulum (ER) membrane protein complex (EMC) subunit 3 (EMC3) is the core unit of the EMC insertase that integrates the transmembrane peptides into lipid bilayers, and the function of its cytoplasmic carboxyl terminus remains to be elucidated. In this study, an insertional mutation c.768insT in the C-terminal coding region of

Indexed as

Cone rod dystrophy (CRD)DominantEMC3ER membrane protein complex (EMC)Inherited retinal dystrophy (IRD)Retinal pigment epithelia (RPE)Retinitis pigmentosa (RP)

Identifiers

PMID37809982
PMCPMC10559921
OpenAlexW4386753365

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.