Evidence map›Paper›PMID 37510397›Full record

ArticleGenes2023

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the

Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez, Ángela Hernández-Martín, Jon Sánchez-Munárriz, José M Lezana-Rosales, Juan F Quesada-Espinosa, Miguel A Martín, Ana Arteche-López

Open access · goldAbstract readCase Reports
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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 73% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

9 authors at 4 institutions in 1 country.

Adrián González-QuintanaServicio Bioquímica Clínica/Análisis Clínicos, Hospital 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-4011-362X
Rocío Garrido-MoragaGrupo de Enfermedades Mitocondriales y Neurometabólicas, Instituto de Investigación Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.ORCID 0000-0002-2856-4399
Sara I Palencia-PérezDepartamento de Dermatología, Hospital Universitario 12 de Octubre y Universidad Complutense de Madrid, 28041 Madrid, Spain.ORCID 0000-0002-4930-0042
Ángela Hernández-MartínDepartamento de Dermatología, Hospital Infantil Universitario Niño Jesús, 28009 Madrid, Spain.
Jon Sánchez-MunárrizServicio Bioquímica Clínica/Análisis Clínicos, Hospital 12 de Octubre, 28041 Madrid, Spain.
José M Lezana-RosalesServicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0003-3510-2077
Juan F Quesada-EspinosaServicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-4420-5214
Miguel A MartínCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.ORCID 0000-0003-4741-772X
Ana Arteche-LópezServicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-4806-9774
Hospital Universitario 12 De Octubre · ESResearch Institute Hospital 12 de Octubre · ESHospital Infantil Universitario Niño Jesús · ESUniversidad Complutense de Madrid · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including

Indexed as

Keratoderma, PalmoplantarCodon, NonsenseGene Expression ProfilingGenes, Tumor SuppressorHumansInheritance PatternsMembrane ProteinsPhenotypeCodon, NonsenseMembrane ProteinsPERP protein, humanerythrokeratodemaHPOpalmoplantar keratodermaPERP

Identifiers

PMID37510397
PMCPMC10379359
OpenAlexW4385225552

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.