Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome.

Jing Wu, Fei Li, Jingjing Zhang, Xiao-Dan Hao

Open access · goldAbstract read

In one paragraph

Article in Heliyon, 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

0.3field-weighted citation impact, top 27% 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, 1 citations in OpenAlex.

Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children.Eye and vision (London, England) · 2025
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

4 authors at 2 institutions in 1 country.

Jing WuInstitute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, 266021, China.

Fei LiInstitute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, 266021, China.

Jingjing ZhangEye Institute of Shandong First Medical University, Eye Hospital of Shandong First Medical University (Shandong Eye Hospital), State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, School of Ophthalmology, Shandong First Medical University, Jinan, 250021, China.

Xiao-Dan HaoInstitute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, 266021, China.

Qingdao University · CNShandong Eye Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study used four generations of a Chinese family to reveal the genetic etiology and ocular manifestation pathogenesis of Marfan syndrome (MFS) through whole genome sequencing (WGS) and metabolomics analysis. In the study, we explored the pathogenic gene variant and aqueous humor (AH) metabolites alterations of MFS. Using WGS, a novel heterozygous variant (NM_000138: c.G4192A, p.D1398 N) in the fibrilin-1 (

Indexed as

Aqueous humor metabolitesFBN1Marfan's syndromeNovel mutation

Identifiers

PMID38187261

DOI10.1016/j.heliyon.2023.e23696

PMCPMC10770601

OpenAlexW4389704857

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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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.