Evidence map›Paper›PMID 37239394›Full record

ArticleGenes2023

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.

Jasmine Y Serpen, William Presley, Adelyn Beil, Stephen T Armenti, Kayla Johnson, Shahzad I Mian, Jeffrey W Innis, Lev Prasov

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

Article in Genes, 2023. 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, top 87% 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, 0 citations in OpenAlex.

  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

8 authors at 1 institution in 1 country.

Jasmine Y SerpenDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.
William PresleyDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Adelyn BeilDepartment of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
Stephen T ArmentiDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.
Kayla JohnsonDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.
Shahzad I MianDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.
Jeffrey W InnisDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Lev PrasovDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.ORCID 0000-0002-6635-1116
University of Michigan · US

Funding

VIVARIUM MODULEP30EY007003 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI David Antonetti · 1987 to 2026
$17.6M
PREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3M
Defining the genetic landscape of nanophthalmos and the role of MYRFK08EY032098 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PRASOV, LEV · 2021 to 2025
$1.2M
NEI NIH HHS K08 EY032098NEI NIH HHS K08EY032098NEI NIH HHS P30 EY007003NIGMS NIH HHS T32 GM007544NIGMS NIH HHS T32GM007544Wellcome Trust
6 · The paper itself

Abstract

Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel syndrome featuring progressive epithelial and anterior stromal opacification in a brother and sister and their mildly affected father, with all three family members having sensorineural hearing loss and two also with tracheomalacia/laryngomalacia. All carried a 1.2 Mb deletion at chromosome 13q12.11, with no other noteworthy co-segregating variants identified on clinical exome or chromosomal microarray. RNAseq analysis from an affected corneal epithelial sample from the proband's brother revealed downregulation of

Indexed as

Hearing Loss, SensorineuralLaryngomalaciaFemaleHumansMaleMicroarray AnalysisProtein Serine-Threonine KinasesSiblingsSyndromeTumor Suppressor ProteinsLATS2 protein, humanProtein Serine-Threonine KinasesTumor Suppressor Proteins13q12.11 microdeletioncorneal opacificationhearing lossIFT88laryngomalaciaLATS2SMAD signalingtracheomalaciaXPO4ZDHHC20

Identifiers

PMID37239394
PMCPMC10218699
OpenAlexW4367627057

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.