Evidence map›Paper›PMID 34064633›Full record

ArticleGenes2021

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.

Daniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, Sabina Barresi, Naomi De Luca, Simone Pizzi, Iria Neri, Claudio Graziano, Diletta Trojan, Diego Ponzin and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.8field-weighted citation impact, top 34% 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

10 citing papers in PubMed, 10 citations in OpenAlex.

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  10. Identification of a novel homozygousFrontiers in genetics · 2022
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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

13 authors at 4 institutions in 1 country.

Daniele CastigliaLaboratory of Molecular and Cell Biology, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0003-3501-6742
Paola FortugnoLaboratory of Molecular and Cell Biology, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0002-0151-6477
Angelo Giuseppe CondorelliGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-1502-5852
Sabina BarresiGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-7307-388X
Naomi De LucaLaboratory of Molecular and Cell Biology, IDI-IRCCS, 00167 Rome, Italy.
Simone PizziGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Iria NeriDepartment of Experimental, Diagnostic and Specialty Medicine, Division of Dermatology, S. Orsola-Malpighi University Hospital, 40138 Bologna, Italy.
Claudio GrazianoMedical Genetics, S. Orsola-Malpighi University Hospital, 40138 Bologna, Italy.ORCID 0000-0003-3875-6869
Diletta TrojanTreviso Tissue Bank Foundation, 31100 Treviso, Italy.ORCID 0000-0002-9003-9421
Diego PonzinThe Veneto Eye Bank Foundation, 30174 Venice, Italy.ORCID 0000-0002-6038-3977
Sabrina RossiPathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Giovanna ZambrunoGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Bambino Gesù Children's Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITVeneto Eye Bank Foundation · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332. JEB patients also present mucosal involvement, including painful corneal lesions. Recurrent corneal abrasions may lead to corneal opacities and visual impairment. Current treatments are merely supportive. We report a novel JEB phenotype distinguished by the complete resolution of skin fragility in infancy and persistent ocular involvement with unremitting and painful corneal abrasions. Biallelic

Indexed as

PhenotypeAmnionCell AdhesionCell Adhesion MoleculesCells, CulturedChild, PreschoolCorneal Dystrophies, HereditaryEpidermolysis Bullosa, JunctionalEpithelium, CornealFemaleHumansKalininKeratinocytesMutationOphthalmic SolutionsSkinCell Adhesion MoleculesKalininOphthalmic Solutionscorneal erosionshypomorphic LAMB3 allelekeratinocyte adhesionlaminin-332 assembly

Identifiers

PMID34064633
PMCPMC8151857
OpenAlexW3162503316

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.