Evidence map›Paper›PMID 38256083›Full record

ArticleInternational journal of molecular sciences2024

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an

Elisha Monson, Artur V Cideciyan, Alejandro J Roman, Alexander Sumaroka, Malgorzata Swider, Vivian Wu, Iryna Viarbitskaya, Samuel G Jacobson, Steven J Fliesler, Steven J Pittler

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

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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

10 authors at 3 institutions in 1 country.

Elisha MonsonDepartment of Optometry and Vision Science, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Artur V CideciyanCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-2018-0905
Alejandro J RomanCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-7368-3007
Alexander SumarokaCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Malgorzata SwiderCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Vivian WuCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Iryna ViarbitskayaCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Samuel G JacobsonCenter for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Steven J FlieslerDepartments of Ophthalmology and Biochemistry, and Neuroscience Graduate Program, Jacobs School of Medicine and Biomedical Sciences, State University of New York-University at Buffalo, Buffalo, NY 14203, USA.ORCID 0000-0002-2557-142X
Steven J PittlerDepartment of Optometry and Vision Science, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0002-8464-9303
Penn Presbyterian Medical Center · USUniversity of Alabama at Birmingham · USVA Western New York Healthcare System · US

Funding

Visual Phenotyping CoreP30EY003039 · NEI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Paul Douglas Gamlin · 1985 to 2026
$16.9M
Development and characterization of mouse models of RP59 DHDDS deficiencyR01EY029341 · NEI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FLIESLER, STEVEN J., PITTLER, STEVEN J · 2018 to 2021
$2.2M
NEI NIH HHS P30 EY003039NEI NIH HHS R01 EY029341NIH HHS R01 EY029341
6 · The paper itself

Abstract

Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degenerative disorders caused by mutations in over 300 genes. A single missense mutation (K42E) in the gene encoding the enzyme dehydrodolichyl diphosphate synthase (DHDDS), which is required for protein N-glycosylation in all cells and tissues, causes

Indexed as

Alkyl and Aryl TransferasesGlucosyltransferasesMembrane ProteinsRetinal DegenerationGenes, ModifierHumansMutationRetinaALG6 protein, humanAlkyl and Aryl Transferasesdehydrodolichyl diphosphate synthetaseGlucosyltransferasesMembrane ProteinsDHDDSgenetic modifierglycosylationretinitis pigmentosa

Identifiers

PMID38256083
PMCPMC10816542
OpenAlexW4390882476

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.