Evidence map›Paper›PMID 35315300›Full record

ArticleOphthalmic genetics2022

Confirmation of association of

Charlene H Choo, Doug D Chung, Kaitlyn V Ledwitch, Alexa Kassels, Jens Meiler, Anthony J Aldave

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2022. 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
0.1field-weighted citation impact, top 56% 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.

  1. Review
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

6 authors at 1 institution in 2 countries.

Charlene H ChooStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.ORCID 0000-0001-8626-4004
Doug D ChungStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Kaitlyn V LedwitchCenter for Structural Biology, Vanderbilt University, Nashville, Tennessee, USA.
Alexa KasselsStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Jens MeilerCenter for Structural Biology, Vanderbilt University, Nashville, Tennessee, USA.
Anthony J AldaveStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Vanderbilt University · US

Funding

Vision Research Core at UCLAP30EY000331 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Gregory Darin Field, DAVID S WILLIAMS · 1985 to 2026
$16.8M
Decrypting Variants of Uncertain Significance in Long-QT SyndromeR01HL122010 · NHLBI · VANDERBILT UNIVERSITY · PI GEORGE, ALFRED L., SANDERS, CHARLES R · 2014 to 2025
$15.5M
Topological Energetics and the Cellular Quality Control of Integral Membrane ProteinsR01GM129261 · NIGMS · TRUSTEES OF INDIANA UNIVERSITY · PI SCHLEBACH, JONATHAN PATRICK · 2018 to 2022
$1.5M
Personalized Structural Biology: Enabling Exome Interpretation in Undiagnosed DiseasesR01LM013434 · NLM · VANDERBILT UNIVERSITY · PI CAPRA, JOHN ANTHONY, MEILER, JENS · 2021 to 2024
$1.4M
NEI NIH HHS P30 EY000331NHLBI NIH HHS R01 HL122010NIGMS NIH HHS R01 GM129261NLM NIH HHS R01 LM013434
6 · The paper itself

Abstract

purposeTo provide the initial confirmation of the c.1772C>T (p.Ser591Phe) mutation in the transforming growth factor-

methodsOphthalmologic examination of the proband was performed with slit lamp biomicroscopy. Saliva was collected as a source of DNA for screening all 17 exons of

resultsSlit lamp examination of the 38-year-old proband revealed a clear cornea right eye and unilateral, discrete, and branching lattice lines in the anterior and mid-stroma of the central cornea left eye. Screening of

conclusionsThe p.Ser591Phe mutation in

Indexed as

Amyloid Neuropathies, FamilialCorneal Dystrophies, HereditaryExtracellular Matrix ProteinsTransforming Growth FactorsAdultbetaIG-H3 ProteinDNA Mutational AnalysisFemaleHumansMaleMutationMutation, MissensePedigreeTransforming Growth Factor betabetaIG-H3 ProteinExtracellular Matrix ProteinsTransforming Growth Factor betaTransforming Growth Factorsasymmetric LCDLattice corneal dystrophy (LCD)transforming growth factor-unilateral LCD

Identifiers

PMID35315300
PMCPMC9463079
OpenAlexW4220901287

What OpenQuestion holds

Textmetadata
LicenceTDM
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.