Evidence map›Paper›PMID 39238827›Full record

ArticlePeerJ2024

A genetic investigation in five Chinese families with keratoconus.

Qinghong Lin, Xuejun Wang, Xiaoliao Peng, Tian Han, Ling Sun, Xiaoyu Zhang, Xingtao Zhou

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PeerJ, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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.

  1. 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

7 authors.

Qinghong Lin *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xuejun Wang *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoliao PengDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Tian HanDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Ling SunDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoyu ZhangDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xingtao ZhouDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: This study investigated the genetic characteristics of five Chinese families with keratoconus (KC). Methods: In the five families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. All KC family members ( Results: The Pentacam tomographic composite index in those affected first-degree family members of the probands showed a pathological change. Five new variants were detected in the five probands and other affected members in their families: a heterozygous missense variant g.19043832C>T (p.Ser145Asn) in the homer scaffolding protein 3 ( Conclusion: Five novel variants in

Indexed as

KeratoconusAdolescentAdultChildChinaEast Asian PeopleExome SequencingFemaleGenetic Predisposition to DiseaseHomeodomain ProteinsHumansMaleMicrotubule-Associated ProteinsMiddle AgedMutation, MissensePedigreeHomeodomain ProteinsMicrotubule-Associated ProteinsReceptor, IGF Type 1DOP1BEML6HOMER3IGF1RKeratoconusNBEAL2Variant

Identifiers

PMID39238827
PMCPMC11376248

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.