Evidence map›Paper›PMID 29977031›Full record

ArticleScientific reports2018

A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.

Fei Dong, Xueting Jin, Michelle A Boettler, Harrison Sciulli, Mones Abu-Asab, Christina Del Greco, Shurong Wang, Yueh-Chiang Hu, Maria M Campos, Shelley N Jackson and 8 more

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

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.1field-weighted citation impact, top 51% 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

6 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Functional study of SCCD pathogenic geneMolecular medicine reports · 2021
    Article
  5. The Human Tissue-Engineered Cornea (hTEC): Recent Progress.International journal of molecular sciences · 2021
    Review
  6. 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

18 authors at 10 institutions in 2 countries.

Fei DongDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Xueting JinLaboratory of Experimental Atherosclerosis, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Michelle A BoettlerDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Harrison SciulliDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Mones Abu-AsabHistopathology Facility, National Eye Institute, NIH, Bethesda, MD, USA.
Christina Del GrecoDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Shurong WangDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Yueh-Chiang HuTransgenic Animal and Genome Editing Core, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID 0000-0002-7992-0525
Maria M CamposHistopathology Facility, National Eye Institute, NIH, Bethesda, MD, USA.
Shelley N JacksonStructural Biology Core, National Institute of Drug Abuse, NIH, Baltimore, MD, USA.
Ludovic MullerStructural Biology Core, National Institute of Drug Abuse, NIH, Baltimore, MD, USA.
Amina S WoodsStructural Biology Core, National Institute of Drug Abuse, NIH, Baltimore, MD, USA.
Christian A CombsLight Microscopy Core Facility, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Jianhua ZhangDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
Michael L NickersonLaboratory of Translational Genomics, National Cancer Institute, NIH, Bethesda, MD, USA.
Howard S KruthLaboratory of Experimental Atherosclerosis, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Jayne S WeissDepartment of Ophthalmology, Pathology and Pharmacology, Louisiana State University School of Medicine, Louisiana State University Eye Center, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
Winston W KaoDepartment of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA. kaoww@ucmail.uc.edu.
University of Cincinnati · USNational Heart Lung and Blood Institute · USCincinnati Children's Hospital Medical Center · USNational Institute on Drug Abuse · USLouisiana State University · USLouisiana State University Health Sciences Center New Orleans · USLouisville Metabolic and Atherosclerosis Research Center · USNational Cancer Institute · USNational Institutes of Health · USSecond Affiliated Hospital of Jilin University · CN

Funding

Light Microscopy CoreZICHL006019 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI COMBS, CHRISTIAN · 2009 to 2025
$29.3M
Mechanism Of Cholesterol Accumulation In Human AtherosclerosisZIAHL002832 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KRUTH, HOWARD S · 2009 to 2019
$12.3M
Histopathology CoreZICEY000461 · NEI · NATIONAL EYE INSTITUTE · PI SCHNEEWEIS, DAVID · 2009 to 2022
$7.7M
Structure/Function Relationship of The Lumican GeneR01EY011845 · NEI · UNIVERSITY OF CINCINNATI · PI KAO, WINSTON W · 1999 to 2017
$5.2M
Methodology development to map and quantify imaged molecules in brain tissueZIADA000593 · NIDA · NATIONAL INSTITUTE ON DRUG ABUSE · PI WOODS, AMINA · 2013 to 2019
$3.5M
Demonstration of the specificity of receptor receptor interactionZIADA000594 · NIDA · NATIONAL INSTITUTE ON DRUG ABUSE · PI WOODS, AMINA · 2015 to 2020
$1.8M
NEI NIH HHS R01 EY011845
6 · The paper itself

Abstract

Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene. In this study, we generated a mouse line carrying Ubiad1 N100S point mutation using the CRISPR/Cas9 technique to investigate the pathogenesis of SCD. In vivo confocal microscopy revealed hyper-reflective dot-like deposits in the anterior cornea in heterozygotes and homozygotes. No significant change was found in corneal epithelial barrier function or wound healing. Electron microscopy revealed abnormal mitochondrial morphology in corneal epithelial, stromal, and endothelial cells. Mitochondrial DNA copy number assay showed 1.27 ± 0.07 fold change in homozygotes versus 0.98 ± 0.05 variation in wild type mice (P < 0.05). Lipidomic analysis indicated abnormal metabolism of glycerophosphoglycerols, a lipid class found in mitochondria. Four (34:1, 34:2, 36:2, and 44:8) of the 11 glycerophosphoglycerols species identified by mass spectrometry showed a significant increase in homozygous corneas compared with heterozygous and wild-type mouse corneas. Unexpectedly, we did not find a difference in the corneal cholesterol level between different genotypes by filipin staining or lipidomic analysis. The Ubiad1

Indexed as

Disease Models, AnimalAnimalsCorneaCorneal Dystrophies, HereditaryCRISPR-Cas SystemsDimethylallyltranstransferaseGlycerophosphatesHumansMaleMiceMicroscopy, ConfocalMicroscopy, ElectronMitochondriaPoint Mutationdiglycerol phosphateDimethylallyltranstransferaseGlycerophosphatesUbiad1 protein, mouse

Identifiers

PMID29977031
PMCPMC6033878
OpenAlexW2739188636

What OpenQuestion holds

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Registered trials

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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.